Gene Summary

neuron navigator 2
Unc53H2,  Rainb1,  RAINB2,  5330421F07Rik,  HELAD1,  POMFIL2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
hyperactivity Nav2em1(IMPC)Tcp HOM   Early adult 6.85×10-07
increased neutrophil cell number Nav2em1(IMPC)Tcp HOM Early adult 2.44×10-05
abnormal skin morphology Nav2em1(IMPC)Tcp HOM Early adult 0.00
increased circulating aspartate transaminase level Nav2em1(IMPC)Tcp HOM Early adult 1.38×10-07
small kidney Nav2em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Nav2em1(IMPC)Tcp HOM Early adult 6.66×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

74 Images


XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection


8 Images

Human diseases caused by Nav2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nav2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Bardet-Biedl Syndrome 19
Obesity, Rod-cone dystrophy, Hyposmia OMIM:615996
Dermoid Cysts, Familial Frontonasal
Papilledema, Nasal congestion, Deviated nasal septum, Anosmia, Wide nasal bridge OMIM:600679
Huntington Disease-Like 2
Apathy, Action tremor, Anxiety, Weight loss, Dystonia, Irritability, Dementia OMIM:606438
Huntington Disease
Bradyphrenia, Apathy, Abnormality of the sense of smell, Mental deterioration, Anxiety, Decreased... ORPHA:399
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Huntington Disease-Like 2
Weight loss, Dystonia, Memory impairment, Dementia ORPHA:98934
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Hyposmia, Orthostatic hypotension, Peripheral axonal degeneration, Decreased... OMIM:608720
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Intention tremor, Head tremor, Hyposmia OMIM:613724
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Hyposmia, Cognitive impairment, Cone/cone-rod dystrophy... OMIM:615994
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Body Mass Index Quantitative Trait Locus 19
Obesity, Anosmia, Hyposmia OMIM:617885
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Anosmia, Hyposmia OMIM:144755
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Anosmia, Hyposmia OMIM:610628
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Young-Onset Parkinson Disease
Apathy, Abnormal autonomic nervous system physiology, Hyposmia, Cognitive impairment, Anxiety, Pa... ORPHA:2828
Pulmonary Blastoma
Weight loss ORPHA:64741
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Weight loss ORPHA:3389
Musk, Inability To Smell
Anosmia OMIM:254150
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Hyperglycinuria, Hyperactivity, Hyperprolinemia, Aggressive behavior OMIM:239500
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Parkinson Disease 8, Autosomal Dominant
Dementia, Resting tremor, Hyposmia OMIM:607060
Peroxisome Biogenesis Disorder 9B
Anosmia, Rod-cone dystrophy OMIM:614879
Hereditary Late-Onset Parkinson Disease
Apathy, Dementia, Resting tremor, Hyposmia, Orthostatic hypotension due to autonomic dysfunction,... ORPHA:411602
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Perry Syndrome
Tremor, Weight loss, Apathy, Dementia ORPHA:178509
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia OMIM:302950
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614838
Kufor-Rakeb Syndrome
Torticollis, Hyposmia, Tremor, Aggressive behavior, Dystonia, Anosmia, Dementia OMIM:606693
Glycine Encephalopathy
Hyperglycinuria, Hyperactivity, Hyperglycinemia, Aggressive behavior, Irritability OMIM:605899
Aural Atresia, Congenital
Hyposmia OMIM:607842
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... OMIM:601152
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Abnormal cranial nerve morphology, Anosmia ORPHA:2057
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Anosmia, Abnormal autonomic nervous system physiology, Hyposmia OMIM:243000
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Hyperactivity, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Attention deficit hypera... OMIM:261600
Morm Syndrome
Hyperactivity, Aggressive behavior, Micropenis ORPHA:75858
Spinocerebellar Ataxia 48
Mental deterioration, Cachexia, Anxiety, Tremor, Dystonia, Irritability OMIM:618093
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Morning glory anomaly, Abnormal fifth cranial nerve morphology... ORPHA:91412
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity OMIM:619970
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Anosmia, Wide nasal bridge OMIM:210745
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Cachexia, Trem... ORPHA:97229
Mulibrey Nanism
Cachexia, Wide nasal bridge ORPHA:2576
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology, Dementia OMIM:605543
Mannosidosis, Beta A, Lysosomal
Increased urinary disaccharide excretion, Hyperactivity, Aggressive behavior OMIM:248510
Johnson Neuroectodermal Syndrome
Failure to thrive, Bulbous nose, Choanal atresia, Facial palsy, Anosmia ORPHA:2316
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Opisthotonus, Cognitive impairment, Pigmentary retinopathy, Optic disc pallor... ORPHA:216866
Oromandibular Dystonia
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Abnormality of the nose, Limb d... ORPHA:93958
Idiopathic Achalasia
Weight loss ORPHA:930
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hypertriglyceridemia, Hyperactivity OMIM:615924
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Progressive neurologic deterioration, Cachexia OMIM:612075
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Hyposmia OMIM:147950
Juvenile Huntington Disease
Weight loss, Dystonia, Irritability, Dementia ORPHA:248111
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100083
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis, Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-bit... OMIM:619827
Refsum Disease, Classic
Rod-cone dystrophy, Anosmia, Retinal degeneration OMIM:266500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Cognitive impairment, Nephropathy, Focal segmental glomerulosclerosis, Re... OMIM:617056
Tay-Sachs Disease
Apathy, Exaggerated startle response, Cherry red spot of the macula, Psychomotor deterioration, D... OMIM:272800
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Hereditary Central Diabetes Insipidus
Weight loss, Irritability ORPHA:30925
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Sensory axonal neuropathy, Optic atrophy, Optic disc pallor, Motor ... OMIM:609541
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cherry red spot of the macu... ORPHA:309246
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Peripheral axonal neuropathy, Optic atrophy, Optic disc pallor, Dec... ORPHA:320406
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity, Polyuria, Self-biting, Renal potassium wasting, Renal... OMIM:618314
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Elevated urinary 4-hydroxybutyric acid, Anxiety, Elevated... OMIM:271980
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Septo-optic dysplasia, Obesity, Anosmia ORPHA:3157
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chronic Hiccup
Weight loss ORPHA:396
Johnson Neuroectodermal Syndrome
Facial palsy, Anosmia, Choanal stenosis OMIM:147770
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Midnasal stenosis, ... OMIM:147250
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior ORPHA:2382
Perry Syndrome
Apathy, Frontotemporal dementia, Anxiety, Tremor, Suicidal ideation, Weight loss, Dystonia OMIM:168605
Isaacs Syndrome
Weight loss ORPHA:84142
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Obesity, Papilledema, Abnormal emotion/affect beha... ORPHA:238624
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Anosmia, Hyposmia OMIM:308700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Non-Functioning Paraganglioma
Cranial nerve compression, Hypertensive retinopathy, Paraganglioma of head and neck, Paragangliom... ORPHA:94080
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Congenital Hypothyroidism
Optic atrophy, Anxiety, Anosmia, Depressed nasal ridge ORPHA:442
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormality of the nares, Short nose, Anosmia ORPHA:1295
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Anosmia OMIM:308750
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation, Anosmia ORPHA:773
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Attention defic... ORPHA:98818
Attrv30M Amyloidosis
Weight loss, Vitreous floaters, Abnormal autonomic nervous system physiology ORPHA:85447
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hyposmia, Cognitive impairment, Ret... ORPHA:2162
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Abnormality of the sense of smell ORPHA:2189
Central Diabetes Insipidus
Failure to thrive, Weight loss, Anxiety ORPHA:178029
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy,... OMIM:535000
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Christianson Syndrome
Abnormality of the nose, Cachexia, Conspicuously happy disposition, Dystonia ORPHA:85278
Ichthyosis And Male Hypogonadism
Anosmia, Rod-cone dystrophy, Polyneuritis OMIM:308200
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior OMIM:612716
Kallmann Syndrome
Tremor, Obesity, Anosmia, Hyposmia ORPHA:478
Superficial Siderosis
Cognitive impairment, Memory impairment, Partial anosmia, Abnormality of the brachial nerve plexu... ORPHA:247245
Gerstmann-Straussler Disease
Memory impairment, Tremor, Aggressive behavior, Emotional lability, Weight loss, Dementia OMIM:137440
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... ORPHA:298
Isolated Succinate-Coq Reductase Deficiency
Progressive psychomotor deterioration, Pigmentary retinopathy, Motor deterioration, Weight loss, ... ORPHA:3208
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Transient global amnesia, Cognitive impairment, Abnormality of the sense of smell, Papilledema, M... ORPHA:2495
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Absent brainstem auditory responses, Short-segment aganglionic megacolon, Aganglioni... OMIM:609136
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis OMIM:244400
Benign Schwannoma
Allodynia, Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnorma... ORPHA:252164
Moynahan Syndrome
Cachexia ORPHA:2574
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Wide nose, Underdeveloped nasal alae ORPHA:284160
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Hypertensive retinopathy, Paraganglioma of head and neck, Paragangliom... ORPHA:276621
Hirschsprung Disease
Weight loss, Aganglionic megacolon, Failure to thrive in infancy ORPHA:388
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss OMIM:613239
Huntington Disease-Like 1
Weight loss, Dementia, Memory impairment, Cognitive impairment ORPHA:157941
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Optic atrophy, Choreoathetosis, Dystonia ORPHA:702
Graves Disease, Susceptibility To, 1
Weight loss, Irritability OMIM:275000
Pfapa Syndrome
Weight loss, Recurrent pharyngitis ORPHA:42642
Hodgkin Lymphoma
Weight loss ORPHA:98293
Gm1 Gangliosidosis
Retinopathy of prematurity, Failure to thrive, Abnormal retinal vascular morphology, Depressed na... ORPHA:354
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Anxiety, Neutrophilia OMIM:266265
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Congenital Tufting Enteropathy
Failure to thrive, Optic disc coloboma, Choanal atresia, Weight loss, Irritability ORPHA:92050
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short nose ORPHA:1389
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Mcdonough Syndrome
Cachexia, Prominent nose, Underdeveloped nasal alae ORPHA:2471
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Fatal Familial Insomnia
Weight loss, Abnormal autonomic nervous system physiology, Dementia OMIM:600072
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
X-Linked Creatine Transporter Deficiency
Self-mutilation, Cachexia, Athetosis, Dystonia, Aganglionic megacolon ORPHA:52503
Infantile Krabbe Disease
Failure to thrive, Decreased nerve conduction velocity, Cherry red spot of the macula, Opisthoton... ORPHA:206436
Wilson Disease
Decreased nerve conduction velocity, Hand tremor, Hyposmia, Tremor, Limb dystonia, Dystonia, Deme... OMIM:277900
Bone Dysplasia, Lethal Holmgren Type
Anteverted nares, Failure to thrive, Weight loss, Depressed nasal ridge ORPHA:1842
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Rhabdoid Tumor
Weight loss, Irritability ORPHA:69077
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Focal Myositis
Weight loss ORPHA:48918
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, He... ORPHA:91547
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophag... OMIM:619644
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Flynn-Aird Syndrome
Cachexia, Rod-cone dystrophy, Dementia ORPHA:2047
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Axial dystonia, Opisthotonus, Retrocollis, Cognitive impairment, Cachexia... ORPHA:300605
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Bulbous nose, Cachexia, Prominent nose, Anteverted nares, Prominent nasal bridge, Failure to thri... OMIM:616801
Glossopharyngeal Neuralgia
Cranial nerve compression, Anxiety, Schwannoma, Weight loss, Abnormal glossopharyngeal nerve morp... ORPHA:221098
Moebius Syndrome
Abnormality of the sense of smell, Facial palsy ORPHA:570
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia, Retinal dystrophy ORPHA:251066
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Conspicuously happy disposition, Self-injurious behavior, Severe failure to thrive, Cachexia, Enl... ORPHA:371364
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Mast Cell Sarcoma
Weight loss ORPHA:66661
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Hereditary Pheochromocytoma-Paraganglioma
Cranial nerve compression, Hypertensive retinopathy, Paraganglioma of head and neck, Paragangliom... ORPHA:29072
Polyarteritis Nodosa
Weight loss, Sensory axonal neuropathy, Polyneuritis ORPHA:767
Waardenburg Syndrome, Type 2E
Ocular albinism, Anosmia, Hypopigmentation of the fundus OMIM:611584
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Hyposmia ORPHA:2250
Follicular Lymphoma
Weight loss ORPHA:545
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anxiety, Anosmia OMIM:619718
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... ORPHA:760
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Broad nasal tip, Anxiety, Underdeveloped nasal alae, Anteverted nar... ORPHA:438216
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Cachexia, Dystonia OMIM:618186
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Progressive neurologic deteriora... OMIM:252920
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Aggressive behavior, Irritability ORPHA:391307
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Convex nasal ridge ORPHA:1979
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Micropenis OMIM:618504
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Pleural Mesothelioma
Weight loss ORPHA:50251
X-Linked Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Hyperactivity, Cognitive impairment, Attention deficit hyp... ORPHA:43
Stiff-Person Syndrome
Agoraphobia, Anxiety, Exaggerated startle response, Opisthotonus OMIM:184850
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon, Wide nasal bridge ORPHA:1438
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Nocturia, Urinary urgency, Urinary hesitancy, Neonatal hyperbilirubinemia, Urinary... OMIM:609727
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Aicardi-Goutieres Syndrome 9
Failure to thrive, Self-mutilation, Chorioretinal atrophy, Optic atrophy, Weight loss, Dystonia, ... OMIM:619487
Kaposi Sarcoma
Abnormal retinal morphology, Weight loss ORPHA:33276
Renpenning Syndrome
Cachexia, Prominent nose, Broad columella ORPHA:3242
Wilson Disease
Increased body weight, Weight loss, Failure to thrive, Aggressive behavior ORPHA:905
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Hyperhistidinemia, Histidinuria, Hyperactivity ORPHA:2157
Takayasu Arteritis
Retinopathy, Weight loss ORPHA:3287
Holocarboxylase Synthetase Deficiency
Weight loss, Irritability ORPHA:79242
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Irritability, Hyposmia ORPHA:68
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Anosmia OMIM:613266
Glycine Encephalopathy With Normal Serum Glycine
Anteverted nares, Depressed nasal bridge, Exaggerated startle response, Optic atrophy OMIM:617301
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... ORPHA:54251
Tetrasomy 12P
Anteverted nares, Cachexia, Short nose ORPHA:884
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Abnormality of the optic nerve ORPHA:3226
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Decreased nerve conduction velocity ORPHA:1933
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response, Cognitive impairment, Optic atrophy, Short nose OMIM:617527
Weight loss ORPHA:69078
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Weight loss, Rhinitis ORPHA:507
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Allodynia, Cachexia, Weight loss, Dementia OMIM:603041
Weight loss ORPHA:668
Cap Polyposis
Weight loss ORPHA:160148
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Weight loss, Orthostatic hypotension due to autonomic dysfunction,... ORPHA:330001
Rett Syndrome
Cachexia, Motor deterioration, Dystonia OMIM:312750
Bullous Pemphigoid
Weight loss ORPHA:703
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Laryngeal dystonia, Mental deterioration, Limb dystonia, Emotional lability, Weight loss, Bradyph... ORPHA:2388
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Thymic Carcinoma
Weight loss ORPHA:99868
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis OMIM:614204
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Immunodeficiency 27A
Weight loss OMIM:209950
Tay-Sachs Disease
Laryngeal dystonia, Exaggerated startle response, Cherry red spot of the macula, Anxiety, Memory ... ORPHA:845
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hand tremor, Small for gestational age ORPHA:424
Neuroblastoma, Susceptibility To, 1
Horner syndrome, Ganglioneuroma, Weight loss, Failure to thrive OMIM:256700
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Wide nasal bridge ORPHA:2774
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Hyposmia OMIM:618653
Adrenocortical Carcinoma
Anxiety, Panic attack, Increased body weight, Weight loss, Irritability ORPHA:1501
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Medullary Thyroid Carcinoma
Weight loss, Pheochromocytoma ORPHA:1332
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss, Pancreatic islet cell adenoma, Carcinoid tumor ORPHA:97289
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Weight loss, Failure to thrive in infancy ORPHA:171876
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Exaggerated startle response, Optic atrophy, Short nose, Dystonia ORPHA:521426
Charge Syndrome
Depressed nasal bridge, Optic atrophy, Abnormal cranial nerve morphology, Choanal atresia, Facial... ORPHA:138
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1302
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal circu... ORPHA:829
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Sandhoff Disease
Orthostatic hypotension, Progressive psychomotor deterioration, Exaggerated startle response, Che... OMIM:268800
Eosinophilic Fasciitis
Weight loss ORPHA:3165
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Tremor, Prominent nose, Aggressive behavior, Obesity ORPHA:85293
Eosinophilic Gastroenteritis
Allergic rhinitis, Weight loss ORPHA:2070
Xfe Progeroid Syndrome
Failure to thrive, Convex nasal ridge, Cachexia, Attenuation of retinal blood vessels, Optic atrophy OMIM:610965
Chronic Beryllium Disease
Weight loss ORPHA:133
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Aganglionic megacolon ORPHA:95427
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Choanal atresia, Anosmia OMIM:603457
Oroticaciduria, Hyperactivity, Hyperammonemia, Hyperargininemia, Diaminoaciduria, Irritability OMIM:207800
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
19Q13.11 Microdeletion Syndrome
Failure to thrive, Underdeveloped nasal alae, Cachexia, Broad columella ORPHA:217346
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Fryns-Smeets-Thiry Syndrome
Cachexia, Prominent nasal bridge, Narrow nasal bridge ORPHA:2058
8P23.1 Microdeletion Syndrome
Short nose, Obesity, Weight loss, Prominent nasal bridge, Wide nasal bridge ORPHA:251071
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cognitive impairment, Retinal pigment epithelial mottling, Sensory axonal neuropathy, Peripheral ... OMIM:607459
Pemphigus Vulgaris
Weight loss ORPHA:704
Felty Syndrome
Weight loss, Rhinitis, Recurrent pharyngitis ORPHA:47612
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Elevated circulating C-reactive protein concentrati... OMIM:617099
Weight loss ORPHA:654
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Aredyld Syndrome
Abnormal nasal morphology, Cachexia ORPHA:1133
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Giant Cell Arteritis
Optic atrophy, Weight loss, Epistaxis, Recurrent pharyngitis ORPHA:397
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Staphylococcal Necrotizing Pneumonia
Leukopenia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:36238
Familial Gestational Hyperthyroidism
Weight loss, Hand tremor ORPHA:99819
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Short Syndrome
Weight loss, Wide nasal bridge ORPHA:3163
Yao Syndrome
Weight loss OMIM:617321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Familial Colorectal Cancer Type X
Weight loss, Anxiety, Irritability, Memory impairment ORPHA:440437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Exaggerated startle response, Retinal dysplasia OMIM:253800
Lynch Syndrome
Weight loss, Anxiety, Irritability, Memory impairment ORPHA:144
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Apathy ORPHA:465508
Seckel Syndrome
Cachexia, Convex nasal ridge, Cognitive impairment ORPHA:808
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Reduced renal corticomedullary differentiation, Emotional lability OMIM:620047
Rheumatoid Arthritis
Weight loss OMIM:180300
Legius Syndrome
Nephrolithiasis, Hyperactivity, Male urethral meatus stenosis, Cognitive impairment, Acute monocy... ORPHA:137605
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Acrodermatitis Enteropathica
Failure to thrive, Weight loss, Emotional lability ORPHA:37
Loeffler Endocarditis
Weight loss ORPHA:75566
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anteverted nares, Cachexia, Midline defect of the nose, Abnormality of retinal pigmentation ORPHA:1969
Wolman Disease
Cachexia ORPHA:75233
Poems Syndrome
Papilledema, Weight loss ORPHA:2905
Ménétrier Disease
Weight loss ORPHA:2494
Igg4-Related Aortitis
Weight loss ORPHA:449400
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly OMIM:612852
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss, Anxiety OMIM:212750
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Weight loss, Carcinoid tumor ORPHA:100085
Gm1 Gangliosidosis Type 1
Broad nasal tip, Depressed nasal bridge, Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Klatskin Tumor
Weight loss ORPHA:99978
Cockayne Syndrome
Action tremor, Convex nasal ridge, Decreased nerve conduction velocity, Retinal degeneration, Abn... ORPHA:191
Acute Promyelocytic Leukemia
Weight loss, Epistaxis ORPHA:520
Beta-Ketothiolase Deficiency
Weight loss, Apathy ORPHA:134
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Retinopathy, Cachexia ORPHA:220295
Malignant Atrophic Papulosis
Weight loss, Abnormality of the optic nerve ORPHA:679
Bronchial Neuroendocrine Tumor
Weight loss, Pulmonary carcinoid tumor ORPHA:97287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Hermansky-Pudlak Syndrome
Weight loss, Abnormality of the optic nerve, Epistaxis, Ocular albinism ORPHA:79430
Sweet Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Sterile absces... ORPHA:3243
Weight loss ORPHA:732
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Familial Mediterranean Fever
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocyt... OMIM:249100
Granulomatosis With Polyangiitis
Weight loss, Concave nasal ridge, Retinal hemorrhage OMIM:608710
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Nasal polyposis ORPHA:183
Al Amyloidosis
Abnormal autonomic nervous system physiology, Weight loss, Autonomic erectile dysfunction, Postur... ORPHA:85443
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Refractory Celiac Disease
Weight loss ORPHA:398063
Charge Syndrome
Self-mutilation, Retinal coloboma, Choanal atresia, Facial palsy, Anosmia OMIM:214800
Polycythemia Vera
Weight loss, Epistaxis ORPHA:729
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia ORPHA:2363
Weight loss ORPHA:723
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Wide nose, Short nose, Abnormality of the optic nerve, Anteverted nares ORPHA:109
Neuroendocrine Tumor Of Stomach
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss, Paraganglioma ORPHA:100075
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Weight loss ORPHA:370348
Simple Cryoglobulinemia
Weight loss, Progressive neurologic deterioration ORPHA:91139
Silver-Russell Syndrome
Obesity, Failure to thrive in infancy, Cachexia ORPHA:813
Trisomy 18
Abnormality of retinal pigmentation, Cognitive impairment, Cachexia, Short nose, Choanal atresia ORPHA:3380
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cognitive impairment, Cachexia, Psychomotor deterioration, Weight loss ORPHA:275761
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Budd-Chiari Syndrome
Weight loss ORPHA:131
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Weight loss, Failure to thrive ORPHA:199299
Renal Nutcracker Syndrome
Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology ORPHA:71273
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Isolated Permanent Neonatal Diabetes Mellitus
Retinopathy, Weight loss, Failure to thrive, Peripheral axonal neuropathy ORPHA:99885
Primary Myelofibrosis
Cachexia ORPHA:824
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Apathy ORPHA:20
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Oculopharyngodistal Myopathy 1
Tremor, Facial palsy, Weight loss OMIM:164310
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Riddle Syndrome
Recurrent sinusitis, Weight loss, Emotional lability ORPHA:420741
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Nijmegen Breakage Syndrome
Convex nasal ridge, Mental deterioration, Depressed nasal bridge, Cachexia, Prominent nose, Promi... ORPHA:647
Behçet Disease
Optic neuritis, Retinopathy, Memory impairment, Retrobulbar optic neuritis, Weight loss, Irritabi... ORPHA:117
Norrie Disease
Failure to thrive, Remnants of the hyaloid vascular system, Self-injurious behavior, Abnormal ret... ORPHA:649
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Mucolipidosis Type Ii
Depressed nasal bridge, Weight loss, Cognitive impairment ORPHA:576
Weight loss ORPHA:99867
Cystic Echinococcosis
Weight loss ORPHA:400
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Atypical pulmonary carcinoid tumor, Neuroendocrine neoplasm, Emotional labilit... ORPHA:99889
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Insulin-Resistance Syndrome Type B
Increased body weight, Weight loss, Decreased body weight, Abnormality of body weight ORPHA:2298
Thyrotoxic Periodic Paralysis
Tremor, Weight loss, Obesity ORPHA:79102
Reactive Arthritis
Weight loss, Cognitive impairment ORPHA:29207
African Trypanosomiasis
Apathy, Optic neuritis, Papilledema, Anxiety, Tremor, Choreoathetosis, Aggressive behavior, Weigh... ORPHA:3385
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Acute Adrenal Insufficiency
Orthostatic hypotension, Weight loss, Failure to thrive ORPHA:95409
Whipple Disease
Cachexia ORPHA:3452
Aicardi-Goutieres Syndrome 7
Weight loss, Dystonia, Irritability OMIM:615846
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Schwartz-Jampel Syndrome
Decreased body weight, Blepharospasm, Cachexia, Anxiety, Prominent nasal bridge, Irritability ORPHA:800
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Retinopathy, Pigmentary retinopathy, Progressive neurologic ... OMIM:219800
Weight loss ORPHA:677
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Hepatosplenomegaly, Elevated urin... OMIM:260920
Granulomatosis With Polyangiitis
Abnormality of the nose, Retinopathy, Weight loss, Epistaxis ORPHA:900
Ileal Neuroendocrine Tumor
Weight loss, Small intestine carcinoid ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss, Small intestine carcinoid ORPHA:100077
Caroli Disease
Weight loss ORPHA:53035
Camurati-Engelmann Disease
Slender build, Cachexia, Optic atrophy, Optic nerve compression, Facial palsy ORPHA:1328
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Weight loss, Abnormality of the optic nerve ORPHA:79078
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Familial Thrombocytosis
Weight loss ORPHA:71493
Weight loss ORPHA:764
Zollinger-Ellison Syndrome
Neuroendocrine neoplasm, Weight loss, Glucagonoma ORPHA:913
Q Fever
Weight loss ORPHA:781
Intestinal carcinoid, Weight loss ORPHA:97278
Tropical Pancreatitis
Weight loss ORPHA:103918
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Mac... ORPHA:91500
Weight loss, Intestinal carcinoid, Pheochromocytoma ORPHA:97261
Alveolar Echinococcosis
Weight loss ORPHA:284
Cachexia, Weight loss, Rhinitis ORPHA:2552
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Glucagonoma, Carcinoid tumor, Intestinal carcinoid, Pheochromocytoma, ... ORPHA:652
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Addison Disease
Orthostatic hypotension, Weight loss, Failure to thrive ORPHA:85138
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Weight loss, Chorioretinitis OMIM:181000
Failure to thrive, Small for gestational age, Chorioretinitis, Abnormality of the peripheral nerv... ORPHA:1304
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Ganglioneuroma, Weight loss ORPHA:97282
Yellow Fever
Neutrophilia, Leukocytosis, Hyperbilirubinemia, Elevated circulating creatine kinase concentratio... ORPHA:99829
Stickler Syndrome
Slender build, Depressed nasal ridge, Depressed nasal bridge, Cachexia, Retinal detachment, Short... ORPHA:828
Fanconi Anemia
Weight loss, Choanal atresia, Aganglionic megacolon ORPHA:84
Tsh-Secreting Pituitary Adenoma
Tremor, Weight loss ORPHA:91347
Hepatocellular Carcinoma
Weight loss, Emotional lability ORPHA:88673
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Castleman Disease
Weight loss ORPHA:160
Erdheim-Chester Disease
Weight loss ORPHA:35687
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Emotional lability, Leukopenia, Elevated circulating cr... ORPHA:99827
Postinfectious Vasculitis
Retinal vasculitis, Abnormality of the peripheral nervous system, Weight loss ORPHA:48435
Rat-Bite Fever
Weight loss ORPHA:31205
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Multiple Myeloma
Weight loss ORPHA:29073
Hutchinson-Gilford Progeria Syndrome
Convex nasal ridge, Narrow nasal tip, Severe failure to thrive, Weight loss, Narrow nasal ridge, ... ORPHA:740
Malt Lymphoma
Weight loss ORPHA:52417
Juvenile Polyposis Of Infancy
Depressed nasal bridge, Cachexia ORPHA:79076
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Bulbous nose, Exaggerated startle response, Broad nasal tip, Long nose, Short nose, Anteverted na... OMIM:619522
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Spontaneous, recurrent epistaxis, Cachexia ORPHA:2072
Weight loss ORPHA:97283
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Weight loss, Chorioretinitis ORPHA:31204
Weight loss ORPHA:97280
Marfan Syndrome
Slender build, Cachexia, Retinal detachment ORPHA:558
Parathyroid Carcinoma
Weight loss ORPHA:143
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Optic disc pallor, Exaggerated startle response ORPHA:438213
Proteus Syndrome
Abnormality of retinal pigmentation, Depressed nasal bridge, Cachexia, Retinal nonattachment, Thi... ORPHA:744
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Weight loss ORPHA:221
Facial palsy, Weight loss, Abnormal nasal mucosa morphology ORPHA:797
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Kikuchi-Fujimoto Disease
Weight loss