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Gene: Npc2 MGI:1915213

Gene Summary

Name:

NPC intracellular cholesterol transporter 2

Synonyms:

HE1, 2700012J19Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
small adrenal glands		Npc2^{tm1e.1(EUCOMM)Wtsi}	HET		Early adult	0.00
increased circulating potassium level		Npc2^{tm1e.1(EUCOMM)Wtsi}	HET		Early adult	2.52×10^-15

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Human diseases caused by Npc2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Npc2 (1 diseases)
Human diseases predicted to be associated with Npc2 (984 diseases)

The table below shows human diseases associated to Npc2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Niemann-Pick Disease, Type C2		Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Pulmonary fibrosis	OMIM:607625

The table below shows human diseases predicted to be associated to Npc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin...	OMIM:615615
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ...	OMIM:615214
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr...	OMIM:619924
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel...	OMIM:615592
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim...	ORPHA:98769
Spinocerebellar Ataxia 43	Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,...	OMIM:617018
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre...	OMIM:616053
Surfactant Metabolism Dysfunction, Pulmonary, 4	Failure to thrive, Intraalveolar phospholipid accumulation	OMIM:300770
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Spinocerebellar Ataxia 37	Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Part...	OMIM:618261
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation	ORPHA:217012
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech	OMIM:160120
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Cerebellar hypoplasia, Tremor, Ataxia	OMIM:213000
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Spinocerebellar Ataxia Type 38	Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction	ORPHA:423296
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Leukocytosis, Splenome...	OMIM:618042
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
Cerebellar Ataxia, Cayman Type	Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia...	ORPHA:94122
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar...	OMIM:615268
Huntington Disease-Like 2	Chorea, Gait disturbance, Involuntary movements, Cerebral cortical atrophy, Dystonia, Parkinsonis...	ORPHA:98934
Spinocerebellar Ataxia 41	Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia	OMIM:616410
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia...	OMIM:300400
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Spinocerebellar Ataxia Type 37	Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Gait dis...	ORPHA:363710
Autosomal Spastic Paraplegia Type 30	Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax...	ORPHA:101010
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection...	OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Failure to thrive, Interlobular septal thickening, Absen...	OMIM:265120
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne...	OMIM:619281
Spinocerebellar Ataxia 38	Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai...	OMIM:615957
Immunodeficiency 102	Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc...	OMIM:301082
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss, Abnormal circulating ...	ORPHA:747
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata...	OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait...	OMIM:615768
Spinocerebellar Ataxia Type 12	Bradykinesia, Cerebral atrophy, Tremor by anatomical site, Poor fine motor coordination, Cerebell...	ORPHA:98762
Immunodeficiency 52	Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod...	OMIM:617514
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Dystonia 23	Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Gait disturbance, Head tremor, L...	OMIM:614860
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria	OMIM:617917
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst...	OMIM:610245
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten...	ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia	Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo...	ORPHA:314978
Spinocerebellar Ataxia Type 35	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb...	ORPHA:276193
Spinocerebellar Ataxia 35	Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell...	OMIM:613908
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c...	OMIM:619510
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve...	ORPHA:284332
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Cerebral atrophy, Hepatomegaly, Neuronal loss in central nervous system, Sp...	OMIM:615924
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Pseudohypoaldosteronism	OMIM:145260
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo...	OMIM:604326
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parki...	OMIM:618093
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Cerebellar vermis atrophy, Chorea,...	ORPHA:248111
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616187
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia, Pseudohypoaldosteronism	OMIM:614495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai...	OMIM:616948
Spinocerebellar Ataxia 18	Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria	OMIM:607458
Spinocerebellar Ataxia 31	Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:117210
Interstitial Lung And Liver Disease	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Intraalveolar phospholipid accu...	OMIM:615486
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Lichtenstein-Knorr Syndrome	Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti...	OMIM:616291
Migraine, Familial Hemiplegic, 1	Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Spastic Ataxia 2, Autosomal Recessive	Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro...	OMIM:611302
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns...	ORPHA:423275
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Elevated circulating C-reactiv...	OMIM:620565
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys...	OMIM:613101
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria	OMIM:617584
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,...	OMIM:241600
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Hepatomegaly, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis ...	OMIM:616719
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c...	OMIM:308240
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall...	OMIM:607317
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid...	ORPHA:98763
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidit...	OMIM:609161
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor...	OMIM:302500
Autosomal Recessive Spastic Paraplegia Type 67	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebral cortical atrophy...	ORPHA:401820
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr...	OMIM:619802
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia, ...	OMIM:222700
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys...	OMIM:615362
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus	OMIM:618876
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Leuko...	ORPHA:470
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign...	ORPHA:79262
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta...	OMIM:610185
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul...	OMIM:212050
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ...	OMIM:213200
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Scissor gait, Spasticity, ...	ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria	OMIM:608029
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis	OMIM:125370
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia, Pseudohypoaldosteronism	OMIM:614496
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Increased circulating renin level, Hyponatremia, Hyperkalemia, Hyperaldosteronism	OMIM:620126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a...	OMIM:600802
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ...	ORPHA:464440
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia...	ORPHA:251282
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait	OMIM:616921
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Increased circulating renin level, Hyponatremia, Hyperkalemia, Hyperaldosteronism	OMIM:620125
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function, Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor f...	ORPHA:512260
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia	ORPHA:309169
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Spinocerebellar Ataxia, Autosomal Recessive 17	Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ...	OMIM:616127
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance...	OMIM:617145
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Reduced ...	OMIM:616050
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus	OMIM:616494
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of CD3-posit...	ORPHA:276
Spinocerebellar Ataxia 11	Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G...	OMIM:604432
Dystonia 27	Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bradykinesia, Babinski sign, Cerebral atrophy, Apraxia, Falls, Spasticity, Cerebellar atrophy, Ga...	OMIM:300423
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia...	ORPHA:284324
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs...	OMIM:607271
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Incr...	OMIM:610600
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic...	OMIM:128230
Ceroid Lipofuscinosis, Neuronal, 5	Dysdiadochokinesis, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Ataxia, Loss of a...	OMIM:256731
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Limb dystonia, Obesity, Ataxia, Cerebellar hypoplasia	OMIM:620270
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria	OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 10	Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte...	OMIM:613728
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s...	OMIM:617225
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Gait disturbance	OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ...	OMIM:614831
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,...	OMIM:615386
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Cerebellar dentate...	OMIM:213600
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga...	OMIM:618090
Cyanide-Induced Parkinsonism-Dystonia	Bradykinesia, Falls, Resting tremor, Subcortical cerebral atrophy, Shuffling gait, Cerebral corti...	ORPHA:306692
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Neurodegeneration With Brain Iron Accumulation 7	Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of am...	OMIM:617916
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Cerebral cortical atrophy, Rigidity, Dystonia, Weight loss	OMIM:606438
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Hyponatr...	OMIM:614736
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Steppage gait, Global brain atrophy, Spastic dysarthria, Impaired distal proprioception, Cerebell...	ORPHA:94124
Dystonia 22, Juvenile-Onset	Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph...	OMIM:620453
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Absent isohemagglutinin level, Increased circulating antibody level,...	OMIM:615559
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor, Loss of ambulation	OMIM:182980
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ...	ORPHA:453521
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Partial absence of specific anti...	OMIM:620430
Spinocerebellar Ataxia Type 17	Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Spasticity, Neuronal loss...	ORPHA:98759
Primary Dystonia, Dyt13 Type	Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu...	ORPHA:98807
Cerebellar Ataxia, Cayman Type	Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor...	OMIM:601238
Urocanase Deficiency	Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria	OMIM:276880
Autosomal Spastic Paraplegia Type 58	Tip-toe gait, Babinski sign, Cerebral atrophy, Torticollis, Erratic myoclonus, Fasciculations, Ch...	ORPHA:397946
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi...	OMIM:117360
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Difficulty walking, Distal sensory impairment, Tremor	OMIM:615048
Peroxisome Biogenesis Disorder 8B	Decreased liver function, Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ata...	OMIM:614877
Familial Hyperaldosteronism Type Ii	Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G...	ORPHA:404
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Impaired tandem gait, Dysme...	OMIM:619028
Spinocerebellar Ataxia 50	Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi...	OMIM:620158
Dystonia 3, Torsion, X-Linked	Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hyperchloremia, Pseudohypoaldosteronism	OMIM:614492
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu...	ORPHA:98764
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Spinocerebellar Ataxia 19	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity...	OMIM:607346
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S...	ORPHA:403
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Chorea, Spasticity, Tremor, Cerebellar atrophy, Poor fine motor coordination, B...	ORPHA:79263
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Cerebellar atrophy, Craniofacial dystonia, Limb dyston...	ORPHA:71517
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Chorea, Truncal ...	OMIM:208920
Pseudohypoparathyroidism, Type Ii	Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypo...	OMIM:203330
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ...	OMIM:616795
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re...	ORPHA:60033
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ...	OMIM:137440
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circulatin...	OMIM:177735
Barth Syndrome	Hypochromic microcytic anemia, Recurrent bronchitis, Failure to thrive, Elevated monolysocardioli...	OMIM:302060
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Neuroectodermal Melanolysosomal Disease	Hypertonia, Spasticity, Tremor, Subcortical cerebral atrophy, Cerebral cortical atrophy, Rigidity...	ORPHA:33445
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Cereb...	OMIM:607250
Huntington Disease-Like 1	Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebellar atrophy, Frequent ...	ORPHA:157941
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid...	ORPHA:454887
Tremor, Hereditary Essential, 1	Action tremor, Hand tremor, Postural tremor	OMIM:190300
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyponatremia, Hypera...	OMIM:264350
Corticosterone Methyloxidase Type I Deficiency	Increased circulating renin level, Hyponatremia, Hyperkalemia, Decreased circulating aldosterone ...	OMIM:203400
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor...	ORPHA:1170
Huntington Disease	Bradykinesia, Babinski sign, Cerebral atrophy, Difficulty walking, Decreased body mass index, Gai...	ORPHA:399
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Weight loss	ORPHA:1164
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:600363
Dystonia 28, Childhood-Onset	Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ...	OMIM:617284
Spinocerebellar Ataxia Type 2	Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Gait at...	ORPHA:98756
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic...	OMIM:615157
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent fall...	ORPHA:216873
Alexander Disease Type I	Cachexia, Spasticity, Cerebellar atrophy, Failure to thrive, Ataxia, Abnormal pyramidal sign, Pal...	ORPHA:363717
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Global brain atrophy, Chorea, Tremor, Cerebellar atrophy, Act...	OMIM:619738
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait	ORPHA:284271
Spinocerebellar Ataxia 27B, Late-Onset	Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia	OMIM:620174
Spinocerebellar Ataxia, Autosomal Recessive 18	Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer...	OMIM:616204
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Chiari type I malformation, Tremor, Rigidity, Dystonia, Ataxia	OMIM:617836
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Cerebral atrophy, Resting tremor, Tremor, Shuff...	OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Unsteady gait, Ataxia, Dysmetria	OMIM:619405
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Atypical Juvenile Parkinsonism	Bradykinesia, Akinesia, Inability to walk, Resting tremor, Brain atrophy, Shuffling gait, Gait at...	ORPHA:391411
Behr Syndrome	Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Progressive...	OMIM:210000
Glycosylphosphatidylinositol Biosynthesis Defect 15	Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cerebellar hypop...	OMIM:617810
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Small for gestational age	OMIM:278780
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular hype...	ORPHA:70589
Spinocerebellar Ataxia, Autosomal Recessive 32	Bradykinesia, Limb ataxia, Torticollis, Atrophy/Degeneration affecting the brainstem, Cerebellar ...	OMIM:619862
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Splenomegaly, Bronchiectasis, Reduced circulating alpha-1-antitrypsin concen...	OMIM:613490
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
X-Linked Intellectual Disability, Hedera Type	Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ...	ORPHA:93952
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor	OMIM:158580
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss...	ORPHA:79127
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone...	OMIM:618883
Pgm3-Cdg	Increased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat...	ORPHA:443811
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Interstitial Lung Disease 1	Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava...	OMIM:619611
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy...	ORPHA:352403
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida...	ORPHA:139485
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Spinocerebellar Ataxia Type 29	Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi...	ORPHA:208513
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou...	OMIM:242860
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar...	ORPHA:98773
Spinocerebellar Ataxia 5	Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto...	OMIM:600224
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Dystonia 11, Myoclonic	Writer's cramp, Tremor, Torticollis, Myoclonus	OMIM:159900
Ataxia-Oculomotor Apraxia 4	Oculomotor apraxia, Atrophy/Degeneration affecting the brainstem, Tetraplegia, Cerebellar atrophy...	OMIM:616267
Juvenile Amyotrophic Lateral Sclerosis	Chorea, Cachexia, Head titubation, Ataxia, Opisthotonus, Amyotrophic lateral sclerosis, Tip-toe g...	ORPHA:300605
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Tremor, Dystonia, Myoclonus	OMIM:619651
Interstitial Lung Disease 2	Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Usual inter...	OMIM:178500
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556030
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Tremor, Ataxia	OMIM:618951
Liddle Syndrome 2	Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia	OMIM:618126
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Axonal degeneration, Fasciculations, Tetraplegia, Hyperlipidemia, Gait...	OMIM:604484
Isaacs Syndrome	Fasciculations, Distal sensory impairment, Weight loss	ORPHA:84142
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence...	OMIM:607594
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp...	OMIM:619846
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep...	ORPHA:158057
Spinocerebellar Ataxia, Autosomal Recessive 7	Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax...	OMIM:609270
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary interstitial morpholog...	OMIM:616414
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Cerebral atrophy, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe...	OMIM:617435
Spinocerebellar Ataxia 44	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria	OMIM:617691
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebral atrophy, Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, I...	ORPHA:137898
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Axonal degeneration, ...	OMIM:302800
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrophy, Dystonia, D...	ORPHA:330050
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:619466
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Antalgic...	OMIM:620546
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Impaired proprioception, Progressive cerebellar ataxia, Positi...	OMIM:277460
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism	OMIM:128235
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F...	ORPHA:2590
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc...	OMIM:183090
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Primary Dystonia, Dyt2 Type	Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt...	ORPHA:99657
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Ciliary Dyskinesia, Primary, 21	Bronchiectasis, Recurrent pneumonia, Atelectasis	OMIM:615294
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo...	OMIM:616726
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Brain atrophy, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cer...	ORPHA:306669
Stxbp1-Related Encephalopathy	Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia	ORPHA:599373
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Peroxisome Biogenesis Disorder 5B	Decreased liver function, Oculomotor apraxia, Tremor, Cerebellar atrophy, Ataxia, Unsteady gait, ...	OMIM:614867
Pulmonary Blastoma	Weight loss	ORPHA:64741
Lower Motor Neuron Syndrome With Late-Adult Onset	Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa...	ORPHA:276435
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi...	OMIM:612387
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Bare Lymphocyte Syndrome, Type I	Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis	OMIM:604571
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Craniofacial...	ORPHA:420492
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:601859
Spinocerebellar Ataxia 4	Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb...	OMIM:600223
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cerebral atrophy, Cirrhosis, Hepatomegaly, Neuronal loss in central nervous...	ORPHA:363400
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Tremor, Ataxia, Gait disturbance	ORPHA:101075
Spinocerebellar Ataxia, Autosomal Recessive 11	Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia	OMIM:614229
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Spinocerebellar Ataxia 34	Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Int...	OMIM:133190
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Babinski sign, Impaired proprioception, Cerebral atrophy, Impaired vibration sensa...	OMIM:615491
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L...	ORPHA:277
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus	OMIM:614018
Urocanic Aciduria	Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia	ORPHA:210128
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Spinocerebellar Ataxia Type 36	Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at...	ORPHA:276198
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Tremor, Dystonia, Ataxia, Splenomegaly, Choreoathetosis	OMIM:612126
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Cutaneous abscess, Eosinophilia...	OMIM:243700
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal...	OMIM:606159
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Abnormally low T cell receptor excision circle level, Lymphopenia, Recurrent bronchopu...	OMIM:242700
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign	OMIM:612016
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spa...	ORPHA:329284
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia	OMIM:618637
Spinocerebellar Ataxia 6	Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ...	OMIM:183086
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Tremor, Myoclonus	OMIM:613608
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Dyston...	ORPHA:64753
Leukodystrophy, Hypomyelinating, 6	Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath...	OMIM:612438
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p...	OMIM:608768
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc...	OMIM:618534
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce...	OMIM:240500
Parkinson Disease 17	Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ...	OMIM:618049
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Tremor, Ataxia, Gait disturbance	ORPHA:101078
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Cerebral atrophy, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkins...	OMIM:300894
Hypermanganesemia With Dystonia 2	Tip-toe gait, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scissor ...	OMIM:617013
Intellectual Developmental Disorder, X-Linked 104	Cerebral cortical atrophy, Spasticity, Tremor, Ataxia	OMIM:300983
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:615872
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia	OMIM:620133
Liddle Syndrome 1	Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia	OMIM:177200
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Spinocerebellar Ataxia Type 19/22	Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca...	ORPHA:98772
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Cerebral cortical atrophy, Dystonia, Ataxi...	OMIM:607694
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,...	OMIM:613239
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia, Failure to thrive	ORPHA:477673
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Impaired distal v...	OMIM:300623
Hypophosphatasia	Hypercalcemia, Failure to thrive in infancy, Emphysema, Anemia	ORPHA:436
Ataxia-Telangiectasia-Like Disorder 1	Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque...	OMIM:604391
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Christianson Syndrome	Truncal ataxia, Neuronal loss in central nervous system, Cachexia, Cerebellar atrophy, Gait ataxi...	ORPHA:85278
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	ORPHA:221139
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ...	ORPHA:251274
X-Linked Charcot-Marie-Tooth Disease Type 3	Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen...	ORPHA:101077
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Slender build, Ataxia, Weight loss	OMIM:613662
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp...	OMIM:608233
Spastic Paraplegia 39, Autosomal Recessive	Babinski sign, Atrophy of the spinal cord, Cerebellar atrophy, Gait disturbance, Ataxia, Progress...	OMIM:612020
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,...	ORPHA:542310
Parathyroid Carcinoma	Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism	OMIM:608266
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss	ORPHA:178509
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive p...	ORPHA:231580
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor...	OMIM:261640
Immunodeficiency 68	B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Cerebral atrophy, Inability to walk, Truncal ataxia, Spa...	OMIM:618877
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria	ORPHA:98771
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration	OMIM:201910
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Difficulty walking, Tongue fasciculations, Tremor, Frequent falls, Myoclonus, Degeneration of ant...	OMIM:159950
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration, Hyperparathyroidism	OMIM:620366
Hsd10 Disease	Frontotemporal cerebral atrophy, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic p...	ORPHA:391417
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Failure to thrive, Weight loss, Gait ataxia	OMIM:612075
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cere...	ORPHA:529665
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
4H Leukodystrophy	Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Upp...	ORPHA:289494
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss...	ORPHA:101
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio...	OMIM:607454
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, ...	OMIM:616505
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Acute hepatic f...	ORPHA:254881
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Cerebellar hypoplasia	OMIM:619556
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig...	ORPHA:53351
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela...	OMIM:301000
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Waddling gait, Inability to walk	OMIM:616269
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating androstenedione concentration, Increased serum testosterone l...	ORPHA:90791
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Pelizaeus-Merzbacher Disease	Global brain atrophy, Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, ...	OMIM:312080
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentrat...	OMIM:201810
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Diffuse...	ORPHA:363654
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ab...	OMIM:618060
Familial Dyskinesia And Facial Myokymia	Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus	ORPHA:324588
Hypermanganesemia With Dystonia 1	Bradykinesia, Decreased liver function, Steppage gait, Cirrhosis, Elevated circulating hepatic tr...	OMIM:613280
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti...	OMIM:606693
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid...	ORPHA:99750
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ...	OMIM:606703
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Inability to walk, Writer's cramp...	OMIM:128100
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Tremor, Prolonged neonatal jaundice	ORPHA:79234
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Abnormality of the liver	OMIM:614307
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:79238
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ...	ORPHA:352649
Familial Nasal Acilia	Bronchiectasis, Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respi...	ORPHA:922
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Inability to walk, Spasticity, Frequent falls, Gait disturbance, Opisthotonus, Weig...	ORPHA:216866
Perry Syndrome	Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Short stepped shuf...	OMIM:168605
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased ci...	ORPHA:171876
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Gait disturbance, Abnor...	OMIM:300957
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Myoclonus	OMIM:615400
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig...	ORPHA:240085
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma, Hypophosphatemia, Pulmonary fibrosis	OMIM:618913
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hemophagocytosis, Decreased circulating antibody level, Thrombocytopenia, Splenomegaly, R...	ORPHA:540
Rhizomelic Chondrodysplasia Punctata, Type 2	Failure to thrive, Decreased circulating plasmalogen concentration	OMIM:222765
Non-Specific Early-Onset Epileptic Encephalopathy	Cerebral atrophy, Difficulty walking, Limb hypertonia, Brain atrophy, Spasticity, Tremor, Involun...	ORPHA:442835
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Babinski sign, Positive Romberg sign, Dysdiadochokinesis, Cerebellar atrophy, Gait disturbance, I...	OMIM:301310
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Familial Glucocorticoid Deficiency	Hyperkalemia, Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidi...	ORPHA:361
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma...	ORPHA:90793
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly...	OMIM:612782
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Tremor, Rigidity, Dystonia, Loss of ambulation, Splenomegaly	OMIM:615010
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums...	OMIM:619911
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Frontotemporal cerebral atrophy, Global brai...	OMIM:612953
Idiopathic Achalasia	Weight loss	ORPHA:930
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxi...	OMIM:614381
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir...	ORPHA:169154
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Spinocerebellar Ataxia Type 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Cerebellar v...	ORPHA:458803
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, Decreased ...	ORPHA:90790
Hemophagocytic Lymphohistiocytosis, Familial, 2	Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocyto...	OMIM:603553
Neurodegeneration With Brain Iron Accumulation 4	Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrapyramidal motor ...	OMIM:614298
Wilson Disease	Cirrhosis, Difficulty walking, Elevated circulating hepatic transaminase concentration, Jaundice,...	ORPHA:905
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Spinocerebellar Ataxia Type 8	Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ...	ORPHA:98760
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi...	ORPHA:96
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Resting t...	ORPHA:247234
Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia, Decreased circulating aldosterone ...	ORPHA:427
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia,...	ORPHA:282166
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased circulating renin level, Abnormal magnesium concentration, Increased serum prostaglandi...	OMIM:241150
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism, Hypokalemia	OMIM:188580
Riboflavin Transporter Deficiency	Cachexia, Tremor, Cerebral cortical atrophy, Ataxia, Myoclonus	ORPHA:97229
Oromandibular Dystonia	Hyperkinetic movements, Torticollis, Lingual dystonia, Blepharospasm, Limb dystonia, Weight loss,...	ORPHA:93958
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ...	OMIM:219080
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography...	ORPHA:90003
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma...	ORPHA:70594
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Impaired distal vibration sensation, Spasticity, Gait disturb...	OMIM:616586
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast...	OMIM:300055
Spinocerebellar Ataxia, Autosomal Recessive 31	Cerebral atrophy, Tremor, Dystonia, Ataxia, Cerebellar hypoplasia, Choreoathetosis	OMIM:619422
Atypical Rett Syndrome	Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Spasticity, Tremor, Gai...	ORPHA:3095
Myopathy With Extrapyramidal Signs	Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnorm...	OMIM:615673
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Impaired tactile sensation, Brain atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:619092
Pelizaeus-Merzbacher Disease	Cachexia, Spasticity, Gait disturbance, Cerebral cortical atrophy, Dystonia, Ataxia, Failure to t...	ORPHA:702
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Failure to thrive, Recurrent pneumonia, Recurrent upper re...	ORPHA:60032
Migraine, Familial Hemiplegic, 2	Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme...	OMIM:602481
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia, Hyperphosphat...	ORPHA:2239
Oculopharyngodistal Myopathy	Difficulty walking, Paraplegia, Vocal cord paresis, Loss of ambulation, Weight loss	ORPHA:98897
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum...	OMIM:202010
Immunodeficiency 96	Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-...	OMIM:619774
Neuronal Intranuclear Inclusion Disease	Tremor, Gait disturbance, Rigidity, Ataxia, Somatic sensory dysfunction	OMIM:603472
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ...	OMIM:601198
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor...	OMIM:606002
Isolated Succinate-Coq Reductase Deficiency	Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Lower limb hypertonia, Ataxia, L...	ORPHA:3208
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Emphysema, Bronchitis, Bronchiectasis, Reduced circulating alpha-1-antitrypsin conc...	ORPHA:60
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Late-Infantile/Juvenile Krabbe Disease	Acroparesthesia, Difficulty walking, Lower limb spasticity, Impaired tactile sensation, Tetrapleg...	ORPHA:206443
Spinocerebellar Ataxia 27A	Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Gait ataxia, Postural tremor, ...	OMIM:193003
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:65682
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Weight loss	ORPHA:391
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Atrophy/Degeneration affecting the brainstem, Impaired distal vibration sensation, ...	ORPHA:99027
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Elevated circulating creatinine concentration, Elevated circulat...	ORPHA:79126
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Ataxia, Athetosis	OMIM:617106
Aceruloplasminemia	Limb ataxia, Akinesia, Torticollis, Abnormal pancreas morphology, Abnormal dentate nucleus morpho...	ORPHA:48818
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebral atrophy, Hypertonia, Limb hypertonia, Tremor, Cerebellar atrophy, Athetosis, Dystonia, A...	OMIM:617710
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Obesity, Parkins...	ORPHA:3077
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Tremor, Episodic ataxia, Dystonia, Myoclonus, Choreoathetosis, Small for gestat...	OMIM:312170
Neuroferritinopathy	Bradykinesia, Babinski sign, Caudate atrophy, Difficulty walking, Writer's cramp, Leg dystonia, R...	ORPHA:157846
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia	OMIM:218030
Developmental And Epileptic Encephalopathy 46	Cerebral atrophy, Failure to thrive, Tremor, Limb hypertonia	OMIM:617162
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Anemia, Thrombocytopenia, Lymphopenia, Pulmonary fibrosis	OMIM:620365
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a...	ORPHA:572
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertonia, Tremor, Gait disturbance, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebe...	ORPHA:1192
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park...	OMIM:619725
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Generalized cerebral atrophy/...	ORPHA:36387
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hyperaldosteronism	ORPHA:369929
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase...	OMIM:308230
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia	ORPHA:682
Tremor, Nystagmus, And Duodenal Ulcer	Abnormal cerebellum morphology, Kinetic tremor, Tremor	OMIM:190310
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Fatal Familial Insomnia	Neuronal loss in central nervous system, Ataxia, Weight loss, Myoclonus	OMIM:600072
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ...	OMIM:615830
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:86893
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Cerebral cortical ...	OMIM:615530
Addison Disease	Delayed puberty, Hyperkalemia, Primary testicular failure, Hypoparathyroidism, Hyperuricemia, Adr...	ORPHA:85138
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Mohr-Tranebjaerg Syndrome	Babinski sign, Global brain atrophy, Oromandibular dystonia, Generalized dystonia, Inability to w...	ORPHA:52368
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hyperkalemia, Adrenocorticotropic horm...	ORPHA:289548
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo...	OMIM:610978
Charcot-Marie-Tooth Disease And Deafness	Steppage gait, Tremor, Distal sensory impairment, Gait disturbance	OMIM:118300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co...	OMIM:615954
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Akinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medi...	ORPHA:411602
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ...	OMIM:618056
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Tremor, Gait disturbance, Cerebellar dysplasia, Upper limb spasticity, Ov...	ORPHA:457240
Immunodeficiency 89 And Autoimmunity	Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ...	OMIM:619632
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, A...	ORPHA:786
Acute Adrenal Insufficiency	Delayed puberty, Hyperkalemia, Hyperuricemia, Adrenal hypoplasia, Androgen insufficiency, Increas...	ORPHA:95409
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections	ORPHA:3348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebral atrophy, Hyperkinetic movements, Difficulty walking, Inability to walk, Elevated circula...	OMIM:615356
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hyperkalemia, Adrenocorticotropic horm...	ORPHA:168558
Mirage Syndrome	Hyperkalemia, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased testicular size, Hypo...	OMIM:617053
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Axia...	ORPHA:240071
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation	ORPHA:209335
Jaberi-Elahi Syndrome	Inability to walk, Broad-based gait, Appendicular spasticity, Dandy-Walker malformation, Cerebell...	OMIM:617988
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 32	Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Choreoathetosis	OMIM:617664
Chronic Hiccup	Weight loss	ORPHA:396
Common Variable Immunodeficiency	Emphysema, Recurrent bronchitis, Bronchiectasis, Splenomegaly, Lymphopenia, Pneumonia, Failure to...	ORPHA:1572
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss	ORPHA:2198
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Reduced circulating cortisol-binding globulin concentration...	OMIM:611489
X-Linked Creatine Transporter Deficiency	Hypertonia, Chorea, Cachexia, Athetosis, Dystonia, Ataxia	ORPHA:52503
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Granulomatosis With Polyangiitis	Pleuritis, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage fluid neutrophil propo...	OMIM:608710
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Spasticity, Tremor, Gait disturbance, Fa...	ORPHA:100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ...	OMIM:301074
Rett Syndrome	Truncal ataxia, Spasticity, Cachexia, Gait apraxia, Gait ataxia, Cerebral cortical atrophy, Dystonia	OMIM:312750
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cerebral atrophy, Hypertonia, Global brain atrophy, Inability to walk, Cachexia, Spasticity, Fail...	OMIM:616801
Saccharopinuria	Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia	ORPHA:3124
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Gait disturbance	ORPHA:157973
Rhabdoid Tumor	Hemiplegia, Neoplasm of the liver, Cerebral palsy, Weight loss	ORPHA:69077
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Flynn-Aird Syndrome	Impaired pain sensation, Cachexia, Cerebral cortical atrophy, Ataxia	ORPHA:2047
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Babinski sign, Cerebral atrophy, Tremor, Gait disturbance, Spastic paraplegia	ORPHA:83629
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia...	ORPHA:1501
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, B lymphocytopenia, Decreased proportion of naive T cells...	OMIM:619381
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:100024
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot...	ORPHA:79102
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Panhypogammaglobulinemia, Pancytopenia, Abnormal natural killer cell count, Abnormal lymp...	ORPHA:79124
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Neuronal loss in central nervous system, Tremor, Rigidity, Dystonia...	OMIM:168600
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Babinski sign, Atrophy/Degeneration involving the spinal cord, Broad-based gait, Impaired distal ...	OMIM:607459
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v...	ORPHA:447753
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ...	OMIM:619574
Pyruvate Dehydrogenase Deficiency	Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign, ...	ORPHA:765
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Resting tremor, Spasticity, Limb dystonia, Cerebral cortical atrophy, Rigidity, Parkins...	OMIM:616840
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Global brain atrophy, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, D...	OMIM:168601
Meier-Gorlin Syndrome 4	Failure to thrive, Emphysema	OMIM:613804
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Ce...	OMIM:620327
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis	OMIM:233910
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:66661
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Ataxia, Myoclonus	OMIM:607876
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Oromotor apraxia, Tremor, Failure to thr...	ORPHA:300536
Liddle Syndrome	Hypokalemia	ORPHA:526
Xeroderma Pigmentosum, Complementation Group F	Brain atrophy, Decreased body weight, Tremor, Ataxia	OMIM:278760
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism	OMIM:260540
Tay-Sachs Disease	Global brain atrophy, Inability to walk, Ankle clonus, Fasciculations, Incoordination, Decerebrat...	ORPHA:845
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Follicular Lymphoma	Splenomegaly, Weight loss, Abnormal peritoneum morphology	ORPHA:545
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Aicardi-Goutieres Syndrome 9	Cerebral atrophy, Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:619487
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Neoplasm of the adrenal gland, Decreased circulating renin level, Glucocortocoid-ins...	ORPHA:231625
Amyotrophic Lateral Sclerosis	Babinski sign, Fasciculations, Cachexia, Spasticity, Motor neuron atrophy, Neurodegeneration, Par...	ORPHA:803
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:42642
Developmental And Epileptic Encephalopathy 4	Cerebral atrophy, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Pleural Mesothelioma	Hepatomegaly, Weight loss	ORPHA:50251
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Prima...	ORPHA:189427
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Ataxia	ORPHA:1933
Neuropathy, Congenital Hypomyelinating, 3	Babinski sign, Cachexia, Spasticity, Cerebellar atrophy, Dystonia	OMIM:618186
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Hypertonia	ORPHA:1389
Gm1 Gangliosidosis	Abnormality of extrapyramidal motor function, Decerebrate rigidity, Spasticity, Tremor, Gait dist...	ORPHA:354
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	OMIM:214700
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Tremor, Olivopontocerebellar atrophy, Rigidity, Ataxia, Parkinsonism...	OMIM:146500
3-Methylglutaconic Aciduria, Type Viib	Cerebral atrophy, Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxi...	OMIM:616271
Coenzyme Q10 Deficiency, Primary, 1	Right hemiplegia, Tremor, Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Loss of ambulatio...	OMIM:607426
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Nasal polyposis, Asplenia, Bronchiec...	OMIM:244400
Renal Hypoplasia, Bilateral	Hyperkalemia, Hyponatremia, Cryptorchidism	ORPHA:97362
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy...	OMIM:617675
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Ovarian neoplasm, Hypokalemia, Glucocortocoid-insensitive prim...	ORPHA:231632
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Emphysema, Hypercholesterolemia, Abnormality of the pulmonary artery	ORPHA:363618
Hypomagnesemia 2, Renal	Hypomagnesemia, Hypokalemia	OMIM:154020
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis	ORPHA:96181
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar ve...	OMIM:212065
Holocarboxylase Synthetase Deficiency	Ataxia, Weight loss	ORPHA:79242
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta...	ORPHA:131
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel...	OMIM:613179
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Weight loss, Myoclonus	OMIM:256700
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:298
Progressive Supranuclear Palsy	Bradykinesia, Falls, Neuronal loss in central nervous system, Tremor, Blepharospasm, Cerebral cor...	ORPHA:683
Netherton Syndrome	Recurrent respiratory infections, Emphysema	ORPHA:634
Moynahan Syndrome	Cachexia	ORPHA:2574
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebral atrophy, Babinski sign, Resting tremor, Atrophy/Degeneration affecting the brainstem, Sp...	ORPHA:314404
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal lower motor neuron morphology, Abnormal mesentery morphology, Abnormality of t...	ORPHA:93941
Typhoid	Hypertonia, Hepatomegaly, Tremor, Ataxia, Splenomegaly	ORPHA:99745
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in females, Abnormal circ...	ORPHA:90794
Birk-Landau-Perez Syndrome	Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Paraplegia, Positive Romberg sign, Truncal ataxia, Tremor, Spasticity, Intention tre...	OMIM:105210
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy...	ORPHA:94093
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Global brain atrophy, Torticollis, Brain atrophy, Tremor, Cerebellar edema, Rigidity, Ataxia, Tet...	OMIM:617186
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Hepatomegaly, Emphysema, Splenomegaly	ORPHA:36412
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Oculomotor apra...	ORPHA:1454
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Tremor, Cere...	ORPHA:572798
Supranuclear Palsy, Progressive, 1	Bradykinesia, Cerebral atrophy, Senile plaques, Akinesia, Gait imbalance, Retrocollis, Falls, Axi...	OMIM:601104
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Global brain atrophy, Akinesia, Abnormality of extrapyramidal motor ...	OMIM:234200
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu...	ORPHA:158061
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Frontotemporal cerebral atrophy, Spasticity, Parkinsonism with favorable response t...	ORPHA:199351
Wolman Disease	Steatorrhea, Hepatomegaly, Cachexia, Splenomegaly, Hepatic failure	ORPHA:75233
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba...	ORPHA:90795
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Hypokalemia	OMIM:604278
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Choreoacanthocytosis	Chorea, Lingual dystonia, Limb dystonia, Head titubation, Splenomegaly, Impaired vibratory sensat...	ORPHA:2388
Pseudomyxoma Peritonei	Weight loss, Abnormal peritoneum morphology	ORPHA:26790
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Liposarcoma	Weight loss, Paresthesia	ORPHA:69078
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hypokalemia	OMIM:618314
Glossopharyngeal Neuralgia	Dysesthesia, Vocal cord paralysis, Chiari type I malformation, Weight loss	ORPHA:221098
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Neoplasm of the pancreas, Abnormal peritoneum morphology, Cachexia, Weight loss	ORPHA:83469
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Abnormal spleen morphology, Bilia...	ORPHA:284
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Niemann-Pick Disease Type C	Chorea, Limb dystonia, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Jaundice, Axial dystonia, Tre...	ORPHA:646
Klatskin Tumor	Jaundice, Hepatomegaly, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Familial Colorectal Cancer Type X	Hypertonia, Neoplasm of the pancreas, Hepatocellular carcinoma, Gait disturbance, Hemiplegia/hemi...	ORPHA:440437
Infantile Krabbe Disease	Lower limb spasticity, Ankle clonus, Decerebrate rigidity, Spasticity, Cachexia, Hyperesthesia, F...	ORPHA:206436
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Abnormal...	ORPHA:320
O'Sullivan-Mcleod Syndrome	Fasciculations, Tremor, Atrophy of the spinal cord	ORPHA:99965
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Peripheral Primitive Neuroectodermal Tumor	Abnormal superior cerebellar peduncle morphology, Neoplasm of the pancreas, Jaundice, Torticollis...	ORPHA:370348
Nelson Syndrome	Anterior hypopituitarism, Secondary hypercortisolism, Diabetes insipidus, Adrenocorticotropic hor...	ORPHA:199244
Triosephosphate Isomerase Deficiency	Cerebral atrophy, Jaundice, Cholelithiasis, Spasticity, Tremor, Prolonged neonatal jaundice, Fail...	OMIM:615512
Cystinosis	Delayed puberty, Hypokalemia, Nephrogenic diabetes insipidus, Hypothyroidism, Hypophosphatemia, T...	ORPHA:213
Citrullinemia Type Ii	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Panc...	ORPHA:247585
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria	OMIM:618527
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pancytopenia, Pleural effusi...	OMIM:181000
Congenital Tracheomalacia	Pneumothorax, Pneumonia, Emphysema, Bronchiectasis, Failure to thrive, Pulmonary hypoplasia, Part...	ORPHA:95430
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hepatomegaly, Weight loss	ORPHA:1842
Beta-Ketothiolase Deficiency	Hepatomegaly, Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss	ORPHA:134
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Pallidal degeneration, Rigidit...	ORPHA:25
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Spastic hemipare...	ORPHA:20
Immunodeficiency 27A	Hepatosplenomegaly, Splenomegaly, Weight loss	OMIM:209950
Focal Myositis	Weight loss	ORPHA:48918
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Leishmaniasis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight loss	ORPHA:507
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Abnormal lymphocyte physiology, Impaired T cell...	ORPHA:1830
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ...	OMIM:618213
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tip-toe gait, Babinski sign, Hypertonia, Difficulty walking, Inability to walk, Impaired tactile ...	ORPHA:466768
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema	OMIM:219100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio...	ORPHA:95699
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Hyponatremia, Primary adrenal insufficiency, Adrenal calcific...	ORPHA:275761
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Kaposi Sarcoma	Abnormality of the liver, Abnormality of the spleen, Weight loss	ORPHA:33276
Celiac Disease, Susceptibility To, 1	Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Ataxia, ...	OMIM:212750
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Gait disturbance	ORPHA:2774
Vipoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Hypokalemia, Adrenocortical a...	ORPHA:97282
Eosinophilic Fasciitis	Weight loss, Paresthesia	ORPHA:3165
Metachromatic Leukodystrophy	Tip-toe gait, Incoordination, Decerebrate rigidity, Tremor, Progressive spasticity, Hemobilia, Fr...	ORPHA:512
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th...	OMIM:614576
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hand tremor, Small for gestational age, Weight loss	ORPHA:424
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Tremor, Failure to thrive, Ataxia, Splenomegaly	OMIM:201100
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
East Syndrome	Increased circulating renin level, Hypokalemia, Hypomagnesemia, Hyperaldosteronism	ORPHA:199343
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Peritoneal Cystic Mesothelioma	Weight loss, Peritonitis	ORPHA:168816
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Steatorrhea, Cachexia	ORPHA:3217
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:400
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Hypertonia, Elevated circulating hepatic transaminase concentration, Resting tremor...	ORPHA:254892
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Anemia, Hemosiderin-laden macrophages in bronchoalveolar flu...	OMIM:233450
Malignant Peritoneal Mesothelioma	Weight loss, Peritonitis	ORPHA:168811
Mcdonough Syndrome	Cachexia	ORPHA:2471
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Meier-Gorlin Syndrome 6	Failure to thrive, Recurrent respiratory infections, Emphysema, Small for gestational age	OMIM:616835
Erdheim-Chester Disease	Xanthelasma, Abnormal cerebellum morphology, Ataxia, Weight loss, Retroperitoneal fibrosis	ORPHA:35687
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema	OMIM:123700
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Aicardi-Goutieres Syndrome 7	Cerebral atrophy, Hypertonia, Hepatomegaly, Limb hypertonia, Lower limb spasticity, Tetraplegia, ...	OMIM:615846
Secondary Short Bowel Syndrome	Failure to thrive, Steatorrhea, Cholestasis, Weight loss	ORPHA:95427
Neuroblastoma	Antalgic gait, Ataxia, Weight loss, Myoclonus	ORPHA:635
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism	OMIM:613090
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Nephroblastoma	Neoplasm of the liver, Weight loss	ORPHA:654
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Steatorrhea, Weight loss	ORPHA:92050
Lymphangioleiomyomatosis	Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly...	ORPHA:538
Majeed Syndrome	Hepatomegaly, Cachexia, Failure to thrive, Splenomegaly, Weight loss	ORPHA:77297
Whipple Disease	Hepatomegaly, Cachexia, Ataxia, Splenomegaly, Myoclonus, Abnormal pyramidal sign	ORPHA:3452
Oculopharyngodistal Myopathy 1	Difficulty walking, Brain atrophy, Tremor, Ataxia, Weight loss	OMIM:164310
Polymyositis	Hepatomegaly, Weight loss, Gait disturbance	ORPHA:732
Eosinophilic Gastroenteritis	Steatorrhea, Weight loss	ORPHA:2070
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Intention tremor, F...	OMIM:208900
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:3226
X-Linked Agammaglobulinemia	Failure to thrive, Hepatitis, Weight loss	ORPHA:47
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Spastic tetraplegia, Cachexia, Severe failure to thrive, Hyperesthesia	ORPHA:371364
Osteootohepatoenteric Syndrome	Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Fail...	OMIM:619377
Wild Type Attr Amyloidosis	Impaired vibratory sensation, Hepatomegaly, Weight loss	ORPHA:330001
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor...	OMIM:612716
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Aplas...	ORPHA:83471
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of the pancreas, T...	ORPHA:69665
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Helix Syndrome	Hypermagnesemia, Hypokalemia, Hyperparathyroidism	OMIM:617671
Ciliary Dyskinesia, Primary, 20	Absent outer dynein arms, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent ...	OMIM:615067
Cutis Laxa, Autosomal Recessive, Type Ic	Emphysema, Atelectasis, Accessory spleen, Hypoplasia of the thymus, Recurrent pneumonia, Pulmonar...	OMIM:613177
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Elevated circulating hepatic transaminase concentration, Abnormality of the pancre...	ORPHA:54251
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Portal hypertension, ...	ORPHA:465508
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Graves Disease	Weight loss	OMIM:275000
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Hypokalemia	OMIM:175500
Aggressive Systemic Mastocytosis	Decreased liver function, Portal hypertension, Hepatosplenomegaly, Weight loss, Hypersplenism	ORPHA:98850
Eosinophilic Granulomatosis With Polyangiitis	Hemiplegia/hemiparesis, Weight loss, Central nervous system degeneration, Gait disturbance	ORPHA:183
Giant Cell Arteritis	Ataxia, Weight loss, Hepatic failure, Paresthesia	ORPHA:397
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Pancreatic hypoplasia, Reduced pancreatic beta cells, Failure to thrive, Ataxia, Weight ...	ORPHA:99885
Rajab Interstitial Lung Disease With Brain Calcifications 1	Abnormal pulmonary interstitial morphology, Emphysema, Anemia, Pancytopenia, Hypocalcemia, Unconj...	OMIM:613658
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:276621
Nocardiosis	Pneumothorax, Liver abscess, Emphysema, Pleuritis, Pleural effusion, Weight loss, Pneumonia, Cuta...	ORPHA:31204
Takayasu Arteritis	Weight loss	ORPHA:3287
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity, Tremor, Broad-based gait	ORPHA:85293
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Weight loss, Increased circulating cortisol level	ORPHA:97289
Renpenning Syndrome	Cachexia	ORPHA:3242
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Cap Polyposis	Weight loss	ORPHA:160148
Osteosarcoma	Weight loss	ORPHA:668
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Babinski sign, Hypertonia, Cirrhosis, Brain atrophy, Spasticity, Tremor, Failure to thrive, Exocr...	OMIM:616539
Chronic Beryllium Disease	Weight loss	ORPHA:133
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss	ORPHA:1332
Cronkhite-Canada Syndrome	Cachexia, Hepatomegaly, Splenomegaly	ORPHA:2930
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Increased circulating renin ...	OMIM:607364
Bronchial Neuroendocrine Tumor	Hepatomegaly, Weight loss, Hepatic failure, Increased circulating cortisol level	ORPHA:97287
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Hyponatremia, Hyperkalemia, Diabetes mellitus	ORPHA:544482
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Primary hyperaldosteronism, Decreased circulating renin level, Hypokalemia	OMIM:615474
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr...	ORPHA:171
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Peritoneal abscess, Hepatosple...	ORPHA:1333
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema	ORPHA:90349
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Primary Myelofibrosis	Hepatomegaly, Cachexia, Portal hypertension, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:33577
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Thyroid crisis...	ORPHA:91347
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Vici Syndrome	Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4...	OMIM:242840
Ellis Van Creveld Syndrome	Acute leukemia, Failure to thrive, Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati...	OMIM:613095
African Trypanosomiasis	Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Jaundice, Hep...	ORPHA:3385
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Biliary tract neoplasm, Cholecystitis, Weight l...	ORPHA:100086
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema	OMIM:614816
Fabry Disease	Abnormal circulating lipid concentration, Emphysema, Anemia, Hyperlipidemia, Left ventricular hyp...	ORPHA:324
Aredyld Syndrome	Cachexia, Hepatomegaly, Splenomegaly	ORPHA:1133
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss	ORPHA:86884
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Early Infantile Epileptic Encephalopathy	Spasticity, Tremor, Cerebellar atrophy, Episodic ataxia, Failure to thrive, Dystonia, Diffuse cer...	ORPHA:1934
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Riddle Syndrome	Gait disturbance, Poor hand-eye coordination, Ataxia, Weight loss, Clumsiness	ORPHA:420741
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight loss, Pancreatic ...	ORPHA:103918
Sarcoidosis	Pneumothorax, Hepatomegaly, Emphysema, Anemia, Chylothorax, Abnormal nasal mucosa morphology, Ple...	ORPHA:797
Bullous Pemphigoid	Weight loss	ORPHA:703
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Hyperkalemia, Elevated serum 11-deoxycortiso...	OMIM:201750
Polyarteritis Nodosa	Weight loss	ORPHA:767
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:100080
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	ORPHA:466650
Cockayne Syndrome	Cerebral atrophy, Hypertonia, Difficulty walking, Elevated circulating hepatic transaminase conce...	ORPHA:191
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Spasticity, Ataxia	ORPHA:220295
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Weight loss, Hepa...	ORPHA:139402
Felty Syndrome	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:47612
Tetrasomy 12P	Cachexia	ORPHA:884
Neonatal Marfan Syndrome	Emphysema, Small for gestational age	ORPHA:284979
Refractory Celiac Disease	Elevated circulating hepatic transaminase concentration, Weight loss, Abnormal spleen physiology	ORPHA:398063
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:29072
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Increased circulating renin level, Hypokalemia, Hypomagnesemia, Hyperaldosteronism	OMIM:612780
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss, Paresthesia	ORPHA:729
Lynch Syndrome	Hypertonia, Neoplasm of the pancreas, Hepatocellular carcinoma, Gait disturbance, Hemiplegia/hemi...	ORPHA:144
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Hypophosphatemia, Hypocalc...	ORPHA:411634
Systemic Capillary Leak Syndrome	Pancreatitis, Weight loss	ORPHA:188
Solitary Fibrous Tumor	Neoplasm of the liver, Weight loss, Abnormal peritoneum morphology	ORPHA:2126
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala...	OMIM:227810
Xfe Progeroid Syndrome	Cachexia, Failure to thrive, Elevated circulating hepatic transaminase concentration, Poor coordi...	OMIM:610965
Poems Syndrome	Hepatomegaly, Hyperesthesia, Splenomegaly, Weight loss, Paresthesia	ORPHA:2905
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Adult-Onset Still Disease	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight loss,...	ORPHA:829
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased cir...	OMIM:601678
Pituitary Adenoma 4, Acth-Secreting	Increased circulating ACTH level, Pituitary adenoma, Hypokalemia	OMIM:219090
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Incr...	ORPHA:96253
Rabson-Mendenhall Syndrome	Increased serum testosterone level, Hypokalemia, Hypothyroidism, Precocious puberty, Increased C-...	ORPHA:769
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:100082
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Yao Syndrome	Weight loss	OMIM:617321
Immunodeficiency 58	Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr...	OMIM:618131
Late-Onset Isolated Acth Deficiency	Failure to thrive, Decreased circulating cortisol level, Hepatitis, Weight loss	ORPHA:199299
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Emphysema, Anemia, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothor...	OMIM:130050
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal sensory impairment, Cachexia, Slender build, Weight loss, Hypoesthesia	OMIM:603041
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating ACTH level, Neuroendocrine neoplasm, Pancreatic endocrine tumor, Pheochromo...	ORPHA:99889
Somatostatinoma	Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysfunction, Hepatom...	ORPHA:97283
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97278
Lymphoid Interstitial Pneumonia	Failure to thrive, Hepatomegaly, Weight loss	ORPHA:79128
Loeffler Endocarditis	Weight loss	ORPHA:75566
Meier-Gorlin Syndrome 1	Failure to thrive, Emphysema, Small for gestational age	OMIM:224690
Pancreatoblastoma	Jaundice, Pancreatic calcification, Weight loss	ORPHA:677
Acrodermatitis Enteropathica	Cerebral cortical atrophy, Failure to thrive, Weight loss	ORPHA:37
Q Fever	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Spleno...	ORPHA:781
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Keutel Syndrome	Recurrent bronchitis, Peripheral pulmonary artery stenosis, Emphysema, Pulmonary artery hypoplasia	OMIM:245150
Rheumatoid Arthritis	Weight loss	OMIM:180300
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Hepatosplenomegaly, Weight loss	ORPHA:85450
Ménétrier Disease	Weight loss	ORPHA:2494
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:67
Simple Cryoglobulinemia	Spontaneous pain sensation, Weight loss, Viral hepatitis, Paresthesia	ORPHA:91139
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Abnormality of thyroid physiology, Hypophosphatemia, Hypokalemia	ORPHA:411629
Familial Thrombocytosis	Splenomegaly, Weight loss, Paresthesia	ORPHA:71493
Mercury Poisoning	Hypokalemia	ORPHA:330021
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Hypertonia, Oculomotor apraxia, Broad-based gait, Cholelithiasis, Cachexia, Spastic ...	ORPHA:2072
Malignant Atrophic Papulosis	Peritonitis, Weight loss, Pain insensitivity	ORPHA:679
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss	ORPHA:90362
Short Syndrome	Weight loss	ORPHA:3163
Bartter Syndrome Type 4	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	ORPHA:89938
Pneumocystosis	Weight loss	ORPHA:723
Behçet Disease	Pancreatitis, Gait disturbance, Hemiparesis, Ataxia, Splenomegaly, Weight loss, Abnormal pyramida...	ORPHA:117
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism	OMIM:602522
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Al Amyloidosis	Abnormality of the liver, Hepatomegaly, Weight loss	ORPHA:85443
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97261
Gitelman Syndrome	Delayed puberty, Hypermagnesemia, Neoplasm of the pancreas, Maternal diabetes, Hypokalemia, Hypoc...	ORPHA:358
Niemann-Pick Disease, Type C2	Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Pulmonary fibrosis	OMIM:607625
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypokalemia, Hypocalce...	ORPHA:699
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Weight loss, Hepatic failure	ORPHA:100075
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Pemphigus Vulgaris	Weight loss	ORPHA:704
Gitelman Syndrome	Delayed puberty, Hypokalemia, Hypomagnesemia, Increased circulating renin level	OMIM:263800
Silver-Russell Syndrome	Cachexia, Obesity, Failure to thrive in infancy	ORPHA:813
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Glucagonoma	Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Intermittent jaund...	ORPHA:97280
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Weight loss	OMIM:613673
Pancreatic Triacylglycerol Lipase Deficiency	Steatorrhea, Exocrine pancreatic insufficiency, Weight loss	ORPHA:309031
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypocalcemia, Hyponatremia, Calcinosis, Hypokalemia	OMIM:617913
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Brucellosis	Liver abscess, Hepatomegaly, Small for gestational age, Chorea, Failure to thrive, Splenomegaly, ...	ORPHA:1304
Mucolipidosis Type Ii	Splenomegaly, Hepatosplenomegaly, Inability to walk, Weight loss	ORPHA:576
Marfan Syndrome	Emphysema, Cachexia, Spontaneous pneumothorax, Slender build, Pulmonary artery dilatation	ORPHA:558
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:98849
Insulin-Resistance Syndrome Type B	Increased body weight, Decreased body weight, Abnormality of body weight, Biliary cirrhosis, Weig...	ORPHA:2298
Trisomy 18	Chiari malformation, Cachexia, Hypertonia	ORPHA:3380
Cystinosis, Nephropathic	Delayed puberty, Male hypogonadism, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nit...	OMIM:219800
Autosomal Dominant Cutis Laxa	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema, Bronchiolitis	ORPHA:90348
Andersen Cardiodysrhythmic Periodic Paralysis	Hyperthyroidism, Hypokalemia	OMIM:170390
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Waddling gait, Slender build, Ataxia, Splenomegaly	ORPHA:1328
Microsporidiosis	Pancreatitis, Cholangitis, Cachexia, Biliary tract abnormality, Abnormality of the spleen, Perito...	ORPHA:2552
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis	OMIM:236680
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Stevens-Johnson Syndrome	Acute hepatic failure, Pancreatitis, Elevated circulating hepatic transaminase concentration, Wei...	ORPHA:36426
Thymoma	Weight loss	ORPHA:99867
Toxic Epidermal Necrolysis	Acute hepatic failure, Pancreatitis, Elevated circulating hepatic transaminase concentration, Wei...	ORPHA:537
Kikuchi-Fujimoto Disease	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ataxia, Splenomegaly, Weig...	ORPHA:50918
Doors Syndrome	Adrenal hyperplasia, Congenital hypothyroidism	ORPHA:79500
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased cir...	OMIM:241200
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Marfan Syndrome	Pneumothorax, Pulmonary artery dilatation, Emphysema	OMIM:154700
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Castleman Disease	Jaundice, Weight loss	ORPHA:160
Multiple Myeloma	Splenomegaly, Weight loss, Paresthesia	ORPHA:29073
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Schwartz-Jampel Syndrome	Hypertonia, Cachexia, Blepharospasm, Decreased body weight, Gait disturbance	ORPHA:800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Cachexia, Splenomegaly, Failure to thriv...	ORPHA:37042
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema	OMIM:614437
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Extrahepatic cholestasis, Weight loss, H...	ORPHA:100078
Zollinger-Ellison Syndrome	Jaundice, Extrahepatic cholestasis, Weight loss, Increased circulating cortisol level	ORPHA:913
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypokal...	ORPHA:534
Immunodeficiency 31C	Hepatomegaly, Splenomegaly, Weight loss	OMIM:614162
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Granulomatosis With Polyangiitis	Hemiplegia, Pancreatitis, Weight loss	ORPHA:900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Rat-Bite Fever	Pancreatitis, Weight loss	ORPHA:31205
Igg4-Related Kidney Disease	Decreased liver function, Pancreatitis, Sclerosing cholangitis, Abnormal mesentery morphology, We...	ORPHA:449395
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Weight loss	ORPHA:85408
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Leprechaunism	Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Central hypothyroidism, Hyperal...	ORPHA:508
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Emphysema, Unilateral lung agenesis	ORPHA:500150
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Pyomyositis	Weight loss	ORPHA:764
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Systemic Lupus Erythematosus	Chorea, Weight loss	ORPHA:536
Fanconi Anemia	Abnormality of the liver, Weight loss	ORPHA:84
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Parathyroid Carcinoma	Pancreatitis, Weight loss, Pancreatic adenocarcinoma	ORPHA:143
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Weight loss	ORPHA:60025
Marburg Hemorrhagic Fever	Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,...	ORPHA:99826
22Q11.2 Deletion Syndrome	Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Impaired T cell function	ORPHA:567
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Insulinoma, Weight loss, Primary hypercortisolism, Increased circulatin...	ORPHA:652
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia	OMIM:619573
Seckel Syndrome	Cachexia	ORPHA:808
Norrie Disease	Hypertonia, Cachexia, Clonus, Cerebral cortical atrophy, Failure to thrive, Aplasia/Hypoplasia of...	ORPHA:649
Postinfectious Vasculitis	Weight loss, Viral hepatitis	ORPHA:48435
Malt Lymphoma	Weight loss	ORPHA:52417
Reactive Arthritis	Weight loss	ORPHA:29207
Viss Syndrome	Pneumothorax, Pulmonary artery aneurysm, Emphysema, Failure to thrive, Right ventricular hypertro...	OMIM:619472
Scorpion Envenomation	Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP concentration, ...	ORPHA:466677
Distal Renal Tubular Acidosis	Hypokalemia	ORPHA:18
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Shuffling gait, Weight loss	ORPHA:740
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Weight loss	ORPHA:79078
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:221
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Proximal Renal Tubular Acidosis	Bicarbonaturia, Hypokalemia	ORPHA:47159
Nijmegen Breakage Syndrome	Cachexia	ORPHA:647
Digeorge Syndrome	Anemia, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly	OMIM:188400
Stickler Syndrome	Hemiplegia/hemiparesis, Cachexia, Slender build	ORPHA:828
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss	ORPHA:91500
Proteus Syndrome	Cachexia, Splenomegaly	ORPHA:744
Tropical Endomyocardial Fibrosis	Cachexia, Hepatomegaly, Splenomegaly	ORPHA:75565
Vascular Ehlers-Danlos Syndrome	Cryptorchidism, Hypokalemia	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Npc2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Npc2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.	NPJ systems biology and applications (May 2021)	Npc2^{tm1e(EUCOMM)Wtsi}	PMC8163790

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MGI Allele	Allele Type	Produced
Npc2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells
Npc2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Npc2^{tm1e.1(EUCOMM)Wtsi}	Promoter excision from Targeted, non-conditional allele	Mice, Tissue
Npc2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Npc2 MGI:1915213

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Pathology and Tissue Collection

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X-ray

X-ray

Human diseases caused by Npc2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data