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Gene: Lpin2 MGI:1891341

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Gene Summary

Name:
lipin 2
Synonyms:
2610511G02Rik

Order Alleles

IMPC Data Collections

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
increased mean platelet volume Lpin2tm1b(KOMP)Wtsi HOM Early adult 1.31×10-12
preweaning lethality, incomplete penetrance Lpin2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased prepulse inhibition Lpin2tm1b(KOMP)Wtsi HOM Early adult 1.27×10-09
decreased mean corpuscular hemoglobin concentration Lpin2tm1b(KOMP)Wtsi HOM Early adult 6.50×10-05
decreased hemoglobin content Lpin2tm1b(KOMP)Wtsi HOM Early adult 2.72×10-05
hydrometra Lpin2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased red blood cell distribution width Lpin2tm1b(KOMP)Wtsi HOM Early adult 6.43×10-05
enlarged lymph nodes Lpin2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin Lpin2tm1b(KOMP)Wtsi HOM Early adult 3.15×10-06

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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 Hind Leg and Hip

11 Images

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Histopathology

Images

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Lpin2 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.

The table below shows human diseases associated to Lpin2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... ORPHA:77297

The table below shows human diseases predicted to be associated to Lpin2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Ataxia, Anemia ORPHA:2802
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Positive Romberg sign, Cerebellar atrophy, Ataxia, Myoclonus, Babinski sign, Anisocytosis, Cerebe... OMIM:301310
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... OMIM:616860
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
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
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Hypochromic anemia, Anisocytosis, Macrothrombocy... ORPHA:67044
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Upper limb postural tr... ORPHA:98769
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ata... OMIM:616053
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Ataxia-Pancytopenia Syndrome
Babinski sign, Distal sensory impairment, Anemia, Pancytopenia, Impaired vibration sensation in t... OMIM:159550
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatomegaly, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis ... OMIM:616719
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Cogwheel... ORPHA:363710
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr... ORPHA:3203
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Macrocytic dyserythropoietic a... OMIM:224120
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
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... ORPHA:98762
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Reduced beta-hexosamin... ORPHA:309169
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:607317
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyr... OMIM:615924
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:611302
Ceroid Lipofuscinosis, Neuronal, 5
Vacuolated lymphocytes, Dysdiadochokinesis, Cerebellar atrophy, Limb tremor, Ataxia, Loss of ambu... OMIM:256731
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Cerebellar vermis atrophy, Gait ataxia, Dilated ... OMIM:213200
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Glutathione Synthetase Deficiency
Neutropenia, Spastic tetraparesis, Intention tremor, Ataxia, Hemolytic anemia, Reduced glutathion... OMIM:266130
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Glut1 Deficiency Syndrome 2
Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia OMIM:612126
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Decreased liver function, Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor f... ORPHA:512260
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Anemia, Increased mean corpuscular volum... ORPHA:98870
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Anemia, Unsteady gait, Myoclonus, Hypoglycemia OMIM:610090
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Cerebellar atrophy, Gait disturbance, Unsteady gait... ORPHA:2585
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrophy, Gait ata... OMIM:615362
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Spherocytosis, Hypochromia, Reticulocytosis, Increased circulating l... ORPHA:71275
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Cerebellar dentate... OMIM:213600
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... OMIM:618090
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Hereditary Methemoglobinemia
Hypertonia, Spasticity, Athetosis, Cerebellar atrophy, Limb dystonia, Spastic tetraplegia, Methem... ORPHA:621
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Anemia, Chronic neutropenia, Dystonia, Thrombocytopenia, Spastic tetraplegia, Cerebel... OMIM:619302
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Aceruloplasminemia
Limb ataxia, Akinesia, Hypochromic microcytic anemia, Torticollis, Abnormal pancreas morphology, ... ORPHA:48818
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parkinsonism, D... OMIM:618093
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Sea-blue histiocytosis, Hepatomegaly, Anemia, Bone-marrow foam cells, Decre... OMIM:607616
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar... ORPHA:521406
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment, Difficulty walking OMIM:615048
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Myoclonus, Hypocholestero... OMIM:610539
Infantile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Chorea, Spasticity, Tremor, Poor fine moto... ORPHA:79263
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Cerebellar hypoplasia, Tremor, Ataxia, Limb dystonia OMIM:620270
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Rigidity, Dystonia, Loss of ambulation, Splenomegaly, Thrombocytopenia, Hem... OMIM:615010
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Impaired tandem gait, Dysme... OMIM:619028
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Impai... OMIM:208920
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... OMIM:616795
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Decreased mean ... ORPHA:231226
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypertonia, Hepatomegaly, Anisocytosis OMIM:604273
Hypermanganesemia With Dystonia 1
Bradykinesia, Decreased liver function, Steppage gait, Cirrhosis, Elevated circulating hepatic tr... OMIM:613280
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Cerebellar atrophy, Limb dyston... ORPHA:71517
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Cerebellar atrophy, Gait disturbance, Ac... OMIM:300423
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity... OMIM:607346
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reducta... OMIM:250800
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Cerebellar atrophy, Titubation, Increased circulating lactate dehydrogenase concentration... OMIM:619405
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu... ORPHA:98764
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Anemia, Tremor, Gait disturbance, Type I diabetes mellitus, Aplasia/Hypoplasia of the... ORPHA:1192
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cerebellar hypop... OMIM:617810
Aceruloplasminemia
Anemia, Torticollis, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Cogwhee... OMIM:604290
Behr Syndrome
Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Progressive spasticity, Cerebel... OMIM:210000
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Rigidity, Ataxia, Cerebellar hypoplasia, Abnormal cerebellar verm... ORPHA:33445
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Hepatomegaly, Spasticity, T... ORPHA:363400
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Increased circulating lactate dehydrogenase concentration, Acu... OMIM:278000
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Splenom... OMIM:603552
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Glutamate-Cysteine Ligase Deficiency
Jaundice, Reticulocytosis, Ataxia, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Chiari type I malformation, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Peroxisome Biogenesis Disorder 5B
Decreased liver function, Oculomotor apraxia, Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, ... OMIM:614867
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro... ORPHA:137898
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Hemolytic anemia, Decreased lecithin cholesterol acyl transferase level, No... OMIM:245900
Classic Galactosemia
Jaundice, Elevated circulating hepatic transaminase concentration, Gait imbalance, Hepatomegaly, ... ORPHA:79239
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Tetraplegia, Leukocytos... OMIM:618278
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Decreased glucosephosphate isomerase level, Spontaneous hemolytic crise... OMIM:613470
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Impaired proprioception, Progressive cerebellar ataxia, Positi... OMIM:277460
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616494
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Action tremor, Dystonia, ... OMIM:619738
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Myopathy With Extrapyramidal Signs
Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnorm... OMIM:615673
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Hypospadias, Thrombocytopenia, Cryptorchidism OMIM:611209
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... OMIM:609270
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Hepati... ORPHA:848
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Abnormal circulating enzyme concentratio... ORPHA:2590
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Cryptorchidism, Thrombocytopenia, Hypospadias OMIM:616737
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Paraparesis, Ataxia, Leukopenia, Thrombocy... ORPHA:27
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Tremor, Athetosis, Cerebellar atrophy, Dystonia, Ataxia, Thrombocyto... OMIM:617710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Chorea, Hemiplegia/hemiparesis, Dystonia, Thrombocytopenia, C... ORPHA:289916
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Abnormality of the liver, Reduced alph... OMIM:614307
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrophy, Dystonia ORPHA:330050
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Elevated circulating alanine aminotransferase concentration, A... OMIM:615558
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Limb ataxia, Broad-based gait, Truncal ataxia, Cerebellar vermis atrophy, Persistence of hemoglob... OMIM:617101
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Acute hepatic f... ORPHA:254881
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa... OMIM:224100
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath... OMIM:612438
Coach Syndrome 3
Portal fibrosis, Ataxia, Anemia, Oculomotor apraxia OMIM:619113
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Sensory ataxia, Gait ataxia, Elevated hemoglobin A1c, Type I d... OMIM:616192
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dyst... OMIM:617435
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Oculomotor apraxia, Elongated superior ce... ORPHA:370022
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101075
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, ... OMIM:616505
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Glutathionuria
Reduced tissue gamma-glutamyltransferase activity, Reduced gamma-glutamyltransferase level, Dysdi... OMIM:231950
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Dyston... ORPHA:64753
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Rosaï-Dorfman Disease
Paraplegia, Anemia, Paresthesia ORPHA:158014
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Post... OMIM:607694
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cere... ORPHA:529665
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Extramedullary hemat... ORPHA:231222
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Spasticity, Tremor, Gait disturbance, At... ORPHA:100
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Splenom... OMIM:613313
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Impaired distal v... OMIM:300623
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,... ORPHA:542310
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101078
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypersegmentation of neutrophil nuclei, Dysmetria, Macrocytic anemia OMIM:615578
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Abnormal glucose homeostasis, ... ORPHA:90117
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Prolonged neonatal jaundice, Tremor, Biliary tract abnormality ORPHA:79234
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellit... OMIM:606069
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p... OMIM:608768
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Abnor... ORPHA:101070
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, N... OMIM:615285
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolytic anemia ORPHA:713
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia OMIM:613101
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Pancytopenia, Right hemiplegia, Tremor, Cerebellar atrophy, Loss of ambulation, Ataxia, M... OMIM:607426
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Difficulty walking, Lower limb spasticity, Impaired tactile sensation, Abnormal ... ORPHA:206443
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi... ORPHA:96
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Hypogonadism, Crypto... OMIM:620501
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Neutropenia, Acute... ORPHA:158057
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ab... OMIM:618060
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal circulating enzyme concentration or activity ORPHA:51208
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly, Hypospadias OMIM:222470
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... OMIM:615438
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Dystonia, Ataxia, Elevated hemoglobin A1c, Cerebellar hypoplasia, Type I diabetes m... OMIM:616113
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Dystonia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Ne... ORPHA:79312
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar vermis atrophy, Spasticity, Tremor, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... OMIM:614381
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Tremor, Hyperinsulinemic hypogl... ORPHA:276608
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Dystonia, ... OMIM:616271
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Subacute Inflammatory Demyelinating Polyneuropathy
Steppage gait, Difficulty walking, Distal sensory impairment, Positive Romberg sign, Tremor, Leuk... ORPHA:206594
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Difficulty walking, Limb hypertonia, Abnormal circulating enzyme concentra... ORPHA:572798
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Abnormality of the lymphatic system, Thrombocytopenia, Hypospadias ORPHA:487796
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level, Anemia OMIM:618838
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Syndromic Diarrhea
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytosis ORPHA:84064
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... ORPHA:158061
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Ataxia, Cerebellar hypoplasia OMIM:619556
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Spasticity, Tremor, Gai... ORPHA:3095
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Cerebellar atrophy, Intention tremor, Action tremor, Gait ataxia, Unsteady g... OMIM:254900
Pelizaeus-Merzbacher Disease
Writer's cramp, Inability to walk, Broad-based gait, Cerebellar vermis atrophy, Tremor, Intention... OMIM:312080
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Wilson Disease
Cirrhosis, Difficulty walking, Elevated circulating hepatic transaminase concentration, Jaundice,... ORPHA:905
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Pontocerebellar atrophy, Oculomotor apraxia, Chorea, Tremor... OMIM:606002
Lesch-Nyhan Syndrome
Hemiplegia/hemiparesis, Spasticity, Anemia ORPHA:510
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk... OMIM:128100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
D-Glyceric Aciduria
Abnormal circulating enzyme concentration or activity, Chorea, Spasticity, Myoclonus, Increased c... ORPHA:941
Mevalonic Aciduria
Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Progressive ce... OMIM:610377
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Anemia OMIM:603278
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level, Anemia OMIM:618835
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentrati... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level, Anemia OMIM:618839
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Difficulty walking, Elevated circulating hepatic transaminase concentra... ORPHA:309854
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Resting t... ORPHA:247234
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme... OMIM:602481
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Hypertonia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Tetraplegia, ... OMIM:267700
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl... OMIM:619151
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, Normochromic anemia, Macro... OMIM:615512
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Wolfram Syndrome 1
Megaloblastic anemia, Tremor, Sideroblastic anemia, Ataxia, Thrombocytopenia, Diabetes mellitus OMIM:222300
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemo... ORPHA:158048
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:264580
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Splenomegaly, Hepatic failure ORPHA:75233
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired distal vibration sensation, Gait ataxia, Action tremor, Head titubation, A... ORPHA:99027
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Hypochromic micro... ORPHA:66634
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hyperkinetic movements, Difficulty walking, Inability to walk, Elevated circulating hepatic trans... OMIM:615356
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent... ORPHA:167
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic par... OMIM:300894
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Ly... OMIM:602450
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Myoclonic spasms, Frequent falls, Rigidity, Opisthotonus, D... OMIM:184850
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hypertension, Increased ... ORPHA:824
Poretti-Boltshauser Syndrome
Cerebellar cyst, Oculomotor apraxia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated ... OMIM:615960
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ... OMIM:618056
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Extramedul... ORPHA:231214
Hoyeraal-Hreidarsson Syndrome
Hypertonia, Anemia, Abnormal leukocyte morphology, Ataxia, Thrombocytopenia, Cerebellar hypoplasia ORPHA:3322
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar ve... OMIM:212065
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:614298
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration,... ORPHA:263455
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Anemia, Spastic tetraparesis, Gait disturbance, Glycosuri... ORPHA:436271
Insulinoma
Hyperinsulinemia, Abnormality of pain sensation, Tremor, Nonketotic hypoglycemia, Recurrent hypog... ORPHA:97279
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Choreoathetosis OMIM:617664
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... ORPHA:79277
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Abetalipoproteinemia
Steatorrhea, Elevated circulating hepatic transaminase concentration, Positive Romberg sign, Gait... ORPHA:14
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Oculomotor apra... ORPHA:1454
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Trichothiodystrophy 6, Nonphotosensitive
Decreased mean corpuscular volume, Increased HbA2 hemoglobin, Broad-based gait OMIM:616943
Tay-Sachs Disease
Inability to walk, Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Tremor, Pr... ORPHA:845
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Tremor, Gait disturbance, Ataxia, Splenomegaly,... OMIM:214500
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Anemia, Hypochromic microcytic anemia, Cholestasis, Porta... ORPHA:440713
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute myeloid... OMIM:260400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Cryptorchidism, Microcytic anemia, Hypospadias ORPHA:98791
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, A... OMIM:275350
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Tremor, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopenia, Microangiopathi... OMIM:274150
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Cerebellar atrophy, Anemia, Neutropenia OMIM:619835
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Hepatic necrosis, Ataxia, ... OMIM:127550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Reticulocyt... ORPHA:300298
Typhoid
Hypertonia, Hepatomegaly, Tremor, Ataxia, Splenomegaly ORPHA:99745
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Glucose intolerance, Inability to walk, Leukemia, Dysdiadochokines... OMIM:208900
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Spastic hemipare... ORPHA:20
Jaberi-Elahi Syndrome
Inability to walk, Appendicular spasticity, Broad-based gait, Dandy-Walker malformation, Cerebell... OMIM:617988
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ... OMIM:619574
Niemann-Pick Disease Type C
Chorea, Limb dystonia, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Jaundice, Axial dystonia, Tre... ORPHA:646
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormal natural... ORPHA:79124
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Tremor, Nystagmus, And Duodenal Ulcer
Abnormal cerebellum morphology, Kinetic tremor, Tremor OMIM:190310
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Abnormal circulating enzyme concentration or activity, Chorea, Tremor, Athe... ORPHA:25
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Gait disturb... OMIM:616586
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v... ORPHA:447753
Pancreatic And Cerebellar Agenesis
Anemia, Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Cerebellar agenesis, Agenesis o... OMIM:609069
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Akinesia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:234200
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropenia, ... OMIM:557000
Wilson Disease
Portal fibrosis, Parkinsonism with favorable response to dopaminergic medication, Limb dystonia, ... OMIM:277900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus OMIM:620365
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anem... OMIM:617591
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Anemia, Pancytopenia, Tremor, Thromboc... OMIM:251100
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Anemia OMIM:611489
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... OMIM:617675
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Anemia, Spastic tetraparesis, Cerebral palsy, Paraparesis, Dystonia, Spastic ataxia, Generalized ... OMIM:620358
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Positive Romberg sign, Intention tre... OMIM:105210
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce... OMIM:615486
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Tremor, Cerebellar atroph... OMIM:620327
Tafro Syndrome
Hepatomegaly, Anemia, Leukocytosis, Increased circulating lactate dehydrogenase concentration, He... ORPHA:457077
Metachromatic Leukodystrophy
Tip-toe gait, Abnormal circulating enzyme concentration or activity, Incoordination, Decerebrate ... ORPHA:512
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Myoclonus OMIM:607876
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Babinski sign, Hypertonia, Cirrhosis, Spasticity, Tremor, Glycosuria, Exocrine pancreatic insuffi... OMIM:616539
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Tremor, Ataxia, Splenomegaly, Low alkaline phosphatase OMIM:201100
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Macrocytic anemia, Anemia of inadequate production, Increased circulating lactate dehyd... OMIM:105600
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Lead Poisoning
Abnormal T cell morphology, Anemia, Poor gross motor coordination, Poor fine motor coordination, ... ORPHA:330015
Citrullinemia Type Ii
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Panc... ORPHA:247585
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
O'Sullivan-Mcleod Syndrome
Fasciculations, Eosinophilia, Tremor ORPHA:99965
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Hypertonia, Elevated circulating hepatic transaminase concentration, Glucose intole... ORPHA:254892
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Epididymitis, N... OMIM:300755
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Olivopontocerebellar atrophy, Rigidity, Ataxia, Parkinsonism OMIM:146500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Hypoplasia of penis, Male pseudohermaphroditism, Abnormality of the male genitalia, Abnor... ORPHA:847
Thymoma
Aplastic anemia, Prostate neoplasm, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Tangier Disease
Hypertriglyceridemia, Anemia, Impaired temperature sensation, Hepatosplenomegaly, Thrombocytopeni... ORPHA:31150
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Throm... OMIM:612199
Tick-Borne Encephalitis
Hyperkinetic movements, Elevated circulating hepatic transaminase concentration, Tongue fascicula... ORPHA:297
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Reduced sepiapterin re... OMIM:612716
Dpagt1-Cdg
Hypertonia, Akinesia, Elevated circulating hepatic transaminase concentration, Inability to walk,... ORPHA:86309
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Hepatoc... OMIM:276700
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, S... OMIM:301040
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168600
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Oculogyric crisis, Chorea, Extrapyramida... ORPHA:94093
Aicardi-Goutières Syndrome
Hypertonia, Difficulty walking, Elevated circulating hepatic transaminase concentration, Chronic ... ORPHA:51
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Hypertonia, Jaundice, Tremor, Clonus, Dystonia, Neutropenia OMIM:617248
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Micropenis OMIM:614083
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Maturity-onset diabetes of the young, Oculogyric crisis, Tremor, Cerebral palsy, Park... ORPHA:1578
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
African Trypanosomiasis
Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Jaundice, Hep... ORPHA:3385
Supranuclear Palsy, Progressive, 1
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Tremor, Limb dystonia... OMIM:601104
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Thrombocytopenia-Absent Radius Syndrome
Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia OMIM:274000
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Alkaptonuria
Prostatitis, Hemolytic anemia, Methemoglobinemia ORPHA:56
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... ORPHA:77297
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Fatigable weakness of skeletal muscles, Abnormal scrota... ORPHA:284339
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum, Unilateral crypt... OMIM:618280
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Hydrolethalus Syndrome 1
Stillbirth, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus OMIM:236680
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Cryptorchidism OMIM:194190
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Neu-Laxova Syndrome 1
Stillbirth, Cryptorchidism, Neonatal death, Bifid uterus OMIM:256520
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Pallister-Killian Syndrome
Stillbirth, Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, S... OMIM:601803
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649

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.

Phenotype Allele Zygosity Sex Life Stage
Bone marrow - MPATH pathological process term hyperplasia Lpin2tm1b(KOMP)Wtsi HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Lpin2tm1b(KOMP)Wtsi HOM Early adult
Sternum - MPATH pathological process term fibro-osseous lesion Lpin2tm1b(KOMP)Wtsi HOM Early adult
Skeletal muscle - MPATH pathological process term multifocal muscle regeneration Lpin2tm1b(KOMP)Wtsi HOM Early adult
Skeletal muscle - MPATH pathological process term dystrophy Lpin2tm1b(KOMP)Wtsi HOM Early adult
Spleen - MPATH pathological process term hyperplasia Lpin2tm1b(KOMP)Wtsi HOM Early adult
Heart - MPATH pathological process term fibrosis Lpin2tm1b(KOMP)Wtsi HOM Early adult
Sternum - MPATH pathological process term hyperplasia Lpin2tm1b(KOMP)Wtsi HOM Early adult
Brain - MPATH pathological process term neuritis Lpin2tm1b(KOMP)Wtsi HOM Early adult
Bone marrow - MPATH pathological process term hypoplasia Lpin2tm1b(KOMP)Wtsi HOM Early adult

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 Lpin2.

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

Title Journal IMPC Allele PubMed ID
Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation. The Journal of experimental medicine (December 2016) Lpin2tm1b(KOMP)Wtsi PMC5294860

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lpin2tm43131(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lpin2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Lpin2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lpin2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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