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Gene: Nav2 MGI:2183691

Gene Summary

Name:

neuron navigator 2

Synonyms:

Unc53H2, Rainb1, RAINB2, 5330421F07Rik, HELAD1, POMFIL2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
small kidney	Nav2^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased exploration in new environment	Nav2^em1(IMPC)Tcp	HOM	Early adult	5.96×10^-08
increased neutrophil cell number	Nav2^em1(IMPC)Tcp	HOM	Early adult	2.44×10^-05
increased circulating aspartate transaminase level	Nav2^em1(IMPC)Tcp	HOM	Early adult	1.38×10^-07
abnormal skin morphology	Nav2^em1(IMPC)Tcp	HOM	Early adult	0.00
hyperactivity	Nav2^em1(IMPC)Tcp	HOM	Early adult	6.89×10^-07

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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.

Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

74 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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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.

Human diseases associated with Nav2 (0 diseases)
Human diseases predicted to be associated with Nav2 (492 diseases)

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	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Huntington Disease-Like 2	Inertia, Weight loss, Apathy, Dementia, Dystonia, Action tremor, Subcortical dementia, Anxiety, I...	OMIM:606438
Hyperlysinemia, Type I	Hyperlysinemia, Hyperactivity, Hyperlysinuria, Cognitive impairment, Anemia	OMIM:238700
Schizophrenia 15	Hyperactivity	OMIM:613950
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Huntington Disease	Aggressive behavior, Memory impairment, Weight loss, Suicidal ideation, Anxiety, Apathy, Irritabi...	ORPHA:399
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Huntington Disease-Like 2	Dementia, Dystonia, Memory impairment, Weight loss	ORPHA:98934
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Head tremor, Intention tremor, Hyposmia	OMIM:613724
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Bardet-Biedl Syndrome 19	Rod-cone dystrophy, Obesity, Hyposmia	OMIM:615996
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Aggressive behavior	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior	ORPHA:356996
Smith-Magenis syndrome	Hyperactivity, Self-mutilation	DECIPHER:8
Glycine Encephalopathy	Hyperactivity, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Restlessness, Hyp...	OMIM:605899
Bardet-Biedl Syndrome 17	Rod-cone dystrophy, Cognitive impairment, Hyposmia, Cone/cone-rod dystrophy, Retinal degeneration...	OMIM:615994
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety	OMIM:619031
Hyperostosis Cranialis Interna	Optic atrophy, Anosmia, Hyposmia, Facial palsy	OMIM:144755
Body Mass Index Quantitative Trait Locus 19	Obesity, Anosmia, Hyposmia	OMIM:617885
Pulmonary Blastoma	Weight loss	ORPHA:64741
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Emotional lability	OMIM:617028
Hyperprolinemia, Type I	Prolinuria, Hyperactivity, Aggressive behavior, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria	OMIM:239500
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Obesity, Anosmia, Hyposmia	OMIM:610628
Young-Onset Parkinson Disease	Cognitive impairment, Hyposmia, Frontal lobe dementia, Abnormal autonomic nervous system physiolo...	ORPHA:2828
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
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
Hartnup Disorder	Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity disorder, Emotional la...	OMIM:234500
Parkinson Disease 8, Autosomal Dominant	Dementia, Resting tremor, Hyposmia	OMIM:607060
Tuberculosis	Weight loss	ORPHA:3389
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia	ORPHA:1135
Musk, Inability To Smell	Anosmia	OMIM:254150
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hyposmia, Resting tremor, Apat...	ORPHA:411602
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Peroxisome Biogenesis Disorder 9B	Rod-cone dystrophy, Anosmia	OMIM:614879
Perry Syndrome	Tremor, Apathy, Dementia, Weight loss	ORPHA:178509
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Anosmia, Bifid nose, Hyposmia	OMIM:614838
Kufor-Rakeb Syndrome	Aggressive behavior, Hyposmia, Torticollis, Dementia, Tremor, Anosmia, Dystonia	OMIM:606693
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Self-injurious behavior, Agitation	OMIM:619970
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Anosmia, Axonal dege...	OMIM:601152
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Spinocerebellar Ataxia 48	Anxiety, Cachexia, Tremor, Mental deterioration, Irritability, Dystonia	OMIM:618093
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short nasal septum, Anosmia, Short nose	OMIM:302950
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Abnormal cranial nerve morphology, Anosmia	ORPHA:2057
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Phenylketonuria	Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Increa...	OMIM:261600
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity, Anosmia, Hyposmia	OMIM:243000
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Marcus-Gunn Syndrome	Abnormality of the sense of smell, Morning glory anomaly, Abnormal fifth cranial nerve morphology...	ORPHA:91412
Carcinoma Of Esophagus	Obesity, Weight loss	ORPHA:70482
Intellectual Developmental Disorder, X-Linked 109	Impulsivity, Hyperactivity, Aggressive behavior, Agitation	OMIM:309548
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:612702
Diencephalic Syndrome	Cachexia, Decreased body weight, Optic atrophy	ORPHA:1672
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Dementia, Weight loss	OMIM:605543
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Agitation	ORPHA:100973
Riboflavin Transporter Deficiency	Aggressive behavior, Abnormal autonomic nervous system physiology, Cachexia, Tremor, Abnormal cra...	ORPHA:97229
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Frontalis muscle weakness, Anosmia, Wide nasal bridge	OMIM:210745
Mulibrey Nanism	Cachexia, Wide nasal bridge	ORPHA:2576
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Increased urinary disaccharide excretion	OMIM:248510
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Cognitive impairment, Weight loss, Optic disc pallor, Opisthotonus, Generaliz...	ORPHA:216866
Johnson Neuroectodermal Syndrome	Choanal atresia, Failure to thrive, Anosmia, Bulbous nose, Facial palsy	ORPHA:2316
Idiopathic Achalasia	Weight loss	ORPHA:930
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:244200
Oromandibular Dystonia	Blepharospasm, Weight loss, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Gen...	ORPHA:93958
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Optic atrophy, Failure to thrive, Prolonged brainstem auditory evok...	OMIM:616881
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Progressive neurologic deterioration, Weight loss	OMIM:612075
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, ...	OMIM:609541
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Juvenile Huntington Disease	Dystonia, Irritability, Dementia, Weight loss	ORPHA:248111
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Tay-Sachs Disease	Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia, Cherry red spot of the...	OMIM:272800
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper...	OMIM:619827
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Mental deterioration	OMIM:615924
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Anosmia, Hyposmia, Choanal atresia	OMIM:147950
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Optic atrop...	ORPHA:320406
Hereditary Central Diabetes Insipidus	Irritability, Weight loss	ORPHA:30925
Morm Syndrome	Hyperactivity, Aggressive behavior, Micropenis	ORPHA:75858
Gm2 Gangliosidosis, Ab Variant	Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie...	ORPHA:309246
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Refsum Disease, Classic	Retinal degeneration, Rod-cone dystrophy, Anosmia	OMIM:266500
Gorlin Syndrome	Abnormality of the sense of smell, Wide nasal bridge	ORPHA:377
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:301008
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia	OMIM:614880
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Increased level of gamma-aminobutyri...	OMIM:271980
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting, Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hyp...	OMIM:618314
Septo-Optic Dysplasia Spectrum	Obesity, Anosmia, Septo-optic dysplasia, Optic nerve hypoplasia	ORPHA:3157
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Anosmia, Hyposmia	OMIM:308700
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:614897
Chronic Hiccup	Weight loss	ORPHA:396
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Isaacs Syndrome	Weight loss	ORPHA:84142
Kallmann Syndrome With Spastic Paraplegia	Anosmia, Eunuchoid habitus	OMIM:308750
Non-Functioning Paraganglioma	Cranial nerve compression, Weight loss, Paraganglioma of head and neck, Tremor, Hypertensive reti...	ORPHA:94080
Solitary Median Maxillary Central Incisor	Choanal atresia, Midnasal stenosis, Anosmia, Pyriform aperture stenosis, Abnormal nasopharynx mor...	OMIM:147250
Perry Syndrome	Frontotemporal dementia, Weight loss, Suicidal ideation, Apathy, Tremor, Anxiety, Dystonia	OMIM:168605
Johnson Neuroectodermal Syndrome	Choanal stenosis, Anosmia, Facial palsy	OMIM:147770
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Anosmia, Short nose	ORPHA:1295
Congenital Hypothyroidism	Anosmia, Depressed nasal ridge, Optic atrophy, Anxiety	ORPHA:442
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Stiff Person Spectrum Disorder	Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety	ORPHA:3198
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Vitreous floaters, Weight loss	ORPHA:85447
Refsum Disease	Retinopathy, Anosmia, Abnormality of retinal pigmentation	ORPHA:773
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response	OMIM:618201
Central Diabetes Insipidus	Failure to thrive, Weight loss, Anxiety	ORPHA:178029
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Holoprosencephaly	Absent nares, Aplasia/Hypoplasia involving the nose, Retinopathy, Cognitive impairment, Depressed...	ORPHA:2162
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb tremor, Limb dystonia, Torticollis, Choreoathet...	OMIM:608643
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior	ORPHA:101039
Hydrolethalus	Abnormality of the sense of smell	ORPHA:2189
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Postural tremor, Leber optic atrophy, ...	OMIM:535000
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp...	OMIM:226990
Christianson Syndrome	Conspicuously happy disposition, Cachexia, Dystonia, Abnormality of the nose	ORPHA:85278
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Exaggerated startle response, Irritability, Optic nerve hypoplasia	OMIM:617864
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Motor deterioration, Dementia, Irritability, Pigmentary retinopathy, Progressive psy...	ORPHA:3208
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss, Emotional lability, Dementia, Tremor, Memory impairment	OMIM:137440
Superficial Siderosis	Cognitive impairment, Dementia, Partial anosmia, Anosmia, Abnormality of the brachial nerve plexu...	ORPHA:247245
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Retinoschisis, Chorioretinal atrophy, Action tremor, Optic neuropathy	OMIM:615651
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior	OMIM:612716
Kallmann Syndrome	Tremor, Obesity, Anosmia, Hyposmia	ORPHA:478
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety	OMIM:301013
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Meningioma	Cognitive impairment, Papilledema, Facial palsy, Neurofibromas, Emotional lability, Abnormality o...	ORPHA:2495
Mitochondrial Neurogastrointestinal Encephalomyopathy	Weight loss, Decreased motor nerve conduction velocity, Cachexia, Dementia, Decreased sensory ner...	ORPHA:298
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Ciliary Dyskinesia, Primary, 1	Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis	OMIM:244400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Abnormal autonomic nervous system physiology, Torticollis, Aganglionic megacolon, Absent brainste...	OMIM:609136
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:228300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ...	ORPHA:3077
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Aggressive behavior, Impulsivity, Attention deficit hyperactivity disorder, Hydron...	OMIM:620141
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
8Q21.11 Microdeletion Syndrome	Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose	ORPHA:284160
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Moynahan Syndrome	Cachexia	ORPHA:2574
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Episodic paroxysmal anxiety, Cranial nerve compression, Weight loss, Pa...	ORPHA:276621
Citrullinemia Type Ii	Hyperactivity, Aggressive behavior, Memory impairment, Irritability, Acute hyperammonemia, Hypopr...	ORPHA:247585
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Weight loss	ORPHA:388
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-injurious behavior	OMIM:620023
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Optic atrophy, Choreoathetosis, Cachexia, Dystonia	ORPHA:702
Trigeminal Neuralgia	Allodynia, Episodic paroxysmal anxiety, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Congenital Tufting Enteropathy	Weight loss, Irritability, Failure to thrive, Optic disc coloboma, Choanal atresia	ORPHA:92050
Graves Disease, Susceptibility To, 1	Irritability, Weight loss	OMIM:275000
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Pfapa Syndrome	Recurrent pharyngitis, Weight loss	ORPHA:42642
Hodgkin Lymphoma	Weight loss	ORPHA:98293
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Anxiety	OMIM:266265
Huntington Disease-Like 1	Cognitive impairment, Memory impairment, Dementia, Weight loss	ORPHA:157941
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Gm1 Gangliosidosis	Cognitive impairment, Depressed nasal ridge, Weight loss, Optic atrophy, Failure to thrive, Depre...	ORPHA:354
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis	OMIM:619281
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Short nose	ORPHA:1389
Mcdonough Syndrome	Underdeveloped nasal alae, Cachexia, Prominent nose	ORPHA:2471
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Isolated Follicle Stimulating Hormone Deficiency	Anosmia	ORPHA:52901
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss	OMIM:613239
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Optic atrophy, Cachexia, Psychomotor deterioratio...	ORPHA:206436
Wilson Disease	Hyposmia, Limb dystonia, Hand tremor, Dementia, Tremor, Decreased nerve conduction velocity, Dyst...	OMIM:277900
Rhabdoid Tumor	Irritability, Weight loss	ORPHA:69077
Relapsing Fever	Increased total bilirubin, Leukopenia, Anemia, Acute kidney injury, Neutrophilia, Hematuria, Elev...	ORPHA:91547
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Cognitive impairment, Urinary bladder sphincter dysfunction, ...	ORPHA:43
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Underdeveloped nasal alae, Exaggerated startle response, Wide nasal bridge, Broad nasal tip, Ante...	ORPHA:438216
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology, Dementia, Weight loss	OMIM:600072
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Cachexia, Athetosis, Dystonia, Self-mutilation	ORPHA:52503
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Flynn-Aird Syndrome	Rod-cone dystrophy, Cachexia, Dementia	ORPHA:2047
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Focal Myositis	Weight loss	ORPHA:48918
Immunodeficiency 91 And Hyperinflammation	Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife...	OMIM:619644
Juvenile Amyotrophic Lateral Sclerosis	Retrocollis, Cognitive impairment, Opisthotonus, Cachexia, Axial dystonia, Head titubation, Oroma...	ORPHA:300605
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Apathy, Dystonia, Dementia	OMIM:272750
Moebius Syndrome	Abnormality of the sense of smell, Facial palsy	ORPHA:570
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Prominent nose, Cachexia, Anteverted nares, Bulbous nose, Prominent...	OMIM:616801
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Weight loss, Schwannoma, A...	ORPHA:221098
Stiff-Person Syndrome	Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety	OMIM:184850
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Herpes Simplex Virus Encephalitis	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, ...	ORPHA:1930
Bone Dysplasia, Lethal Holmgren Type	Weight loss, Failure to thrive, Depressed nasal ridge, Anteverted nares	ORPHA:1842
Hereditary Pheochromocytoma-Paraganglioma	Adrenal pheochromocytoma, Episodic paroxysmal anxiety, Cranial nerve compression, Weight loss, Re...	ORPHA:29072
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Follicular Lymphoma	Weight loss	ORPHA:545
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Enlarged naris, Self-injurious behavior, Wide nasal bridge, Cachexia, Severe failure to thrive, A...	ORPHA:371364
8P11.2 Deletion Syndrome	Retinal dystrophy, Depressed nasal bridge, Anosmia	ORPHA:251066
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia, Anxiety	OMIM:619718
Waardenburg Syndrome, Type 2E	Hypopigmentation of the fundus, Anosmia, Ocular albinism	OMIM:611584
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Absent nares, Single naris, Anosmia, Hyposmia	ORPHA:2250
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h...	ORPHA:760
Neuropathy, Congenital Hypomyelinating, 3	Facial diplegia, Cachexia, Dystonia	OMIM:618186
Benign Schwannoma	Allodynia, Scleral schwannoma, Nasal polyposis, Schwannoma, Abnormality of the twelfth cranial ne...	ORPHA:252164
Pleural Mesothelioma	Weight loss	ORPHA:50251
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Progressive neurologic deterioration, Splenomegaly, Heparan s...	OMIM:252920
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Exaggerated startle response, Depressed nasal bridge, Anteverted nares	OMIM:617301
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Wide nasal bridge	ORPHA:1438
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Convex nasal ridge, Weight loss	ORPHA:1979
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Hyperactivity, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia, Urin...	OMIM:609727
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Cognitive impairment, Optic atrophy, Short nose, Failure to thrive	OMIM:617527
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Kaposi Sarcoma	Abnormal retinal morphology, Weight loss	ORPHA:33276
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Holocarboxylase Synthetase Deficiency	Irritability, Weight loss	ORPHA:79242
Aicardi-Goutieres Syndrome 9	Weight loss, Optic atrophy, Failure to thrive, Chorioretinal atrophy, Irritability, Dystonia, Sel...	OMIM:619487
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Wilson Disease	Failure to thrive, Aggressive behavior, Weight loss, Increased body weight	ORPHA:905
Renpenning Syndrome	Broad columella, Cachexia, Prominent nose	ORPHA:3242
Takayasu Arteritis	Retinopathy, Weight loss	ORPHA:3287
Amoebiasis Due To Free-Living Amoebae	Irritability, Hyposmia, Facial palsy	ORPHA:68
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Waardenburg Syndrome, Type 4C	Aganglionic megacolon, Anosmia	OMIM:613266
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Deafness-Lymphedema-Leukemia Syndrome	Abnormal optic nerve morphology, Weight loss	ORPHA:3226
Tetrasomy 12P	Cachexia, Anteverted nares, Short nose	ORPHA:884
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Decreased nerve conduction velocity	ORPHA:1933
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C-reactive protein conce...	ORPHA:54251
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Leishmaniasis	Rhinitis, Weight loss	ORPHA:507
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Liposarcoma	Weight loss	ORPHA:69078
Cap Polyposis	Weight loss	ORPHA:160148
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Weight loss, Allodynia, Cachexia, Dementia, Slender build	OMIM:603041
Tay-Sachs Disease	Exaggerated startle response, Optic atrophy, Tremor, Dystonia, Laryngeal dystonia, Anxiety, Memor...	ORPHA:845
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	ORPHA:330001
Osteosarcoma	Weight loss	ORPHA:668
Bullous Pemphigoid	Weight loss	ORPHA:703
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Short nose, Failure to thrive, Dystonia	ORPHA:521426
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Cherry red spot of the macula, Progressive...	OMIM:268800
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Al...	ORPHA:36238
Thymic Carcinoma	Weight loss	ORPHA:99868
Sandhoff Disease, Infantile Form	Exaggerated startle response, Cherry red spot of the macula	ORPHA:309155
Asparagine Synthetase Deficiency	Failure to thrive, Exaggerated startle response	OMIM:615574
Rett Syndrome	Motor deterioration, Cachexia, Dystonia	OMIM:312750
Choreoacanthocytosis	Hair-pulling, Blepharospasm, Limb dystonia, Abnormal autonomic nervous system physiology, Self-mu...	ORPHA:2388
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Hyposmia	OMIM:618653
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Immunodeficiency 27A	Weight loss	OMIM:209950
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Horner syndrome, Ganglioneuroma, Weight loss	OMIM:256700
Adrenocortical Carcinoma	Anxiety, Weight loss, Panic attack, Irritability, Increased body weight	ORPHA:1501
Generalized Pseudohypoaldosteronism Type 1	Recurrent upper and lower respiratory tract infections, Failure to thrive in infancy, Weight loss	ORPHA:171876
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Wide nasal bridge	ORPHA:2774
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Thymic Neuroendocrine Tumor	Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm, Weight loss	ORPHA:97289
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Psoriasis 14, Pustular	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:614204
Medullary Thyroid Carcinoma	Weight loss, Pheochromocytoma	ORPHA:1332
Cryptogenic Organizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis	ORPHA:1302
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Charge Syndrome	Optic atrophy, Facial palsy, Depressed nasal bridge, Anosmia, Chorioretinal coloboma, Abnormal cr...	ORPHA:138
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reactive protein c...	ORPHA:829
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Eosinophilic Gastroenteritis	Weight loss, Allergic rhinitis	ORPHA:2070
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
X-Linked Intellectual Disability, Cabezas Type	Aggressive behavior, Prominent nose, Cachexia, Tremor, Obesity	ORPHA:85293
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Occipital Horn Syndrome	Abnormality of the sense of smell	ORPHA:198
Chronic Beryllium Disease	Weight loss	ORPHA:133
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Secondary Short Bowel Syndrome	Failure to thrive, Aganglionic megacolon, Weight loss	ORPHA:95427
Xfe Progeroid Syndrome	Convex nasal ridge, Optic atrophy, Cachexia, Attenuation of retinal blood vessels, Failure to thrive	OMIM:610965
Bosma Arhinia Microphthalmia Syndrome	Anosmia, Aplasia of the nose, Choanal atresia	OMIM:603457
Pemphigus Vulgaris	Weight loss	ORPHA:704
Carney-Stratakis Syndrome	Weight loss, Paraganglioma	ORPHA:97286
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Argininemia	Hyperactivity, Oroticaciduria, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Irritability	OMIM:207800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Exaggerated startle response, Tremor	OMIM:618056
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Retinal dysplasia, Exaggerated startle response, Optic atrophy	OMIM:253800
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Cachexia, Prominent nasal bridge	ORPHA:2058
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cognitive impairment, Weight loss, Retinal pigment epithelial mottling, Emotional lability, Demen...	OMIM:607459
Aredyld Syndrome	Abnormal nasal morphology, Cachexia	ORPHA:1133
8P23.1 Microdeletion Syndrome	Weight loss, Wide nasal bridge, Short nose, Obesity, Prominent nasal bridge	ORPHA:251071
Felty Syndrome	Rhinitis, Recurrent pharyngitis, Weight loss	ORPHA:47612
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote...	OMIM:617099
Nephroblastoma	Weight loss	ORPHA:654
Leopard Syndrome 1	Depressed nasal ridge, Hyposmia	OMIM:151100
Giant Cell Arteritis	Epistaxis, Optic atrophy, Recurrent pharyngitis, Weight loss	ORPHA:397
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
19Q13.11 Microdeletion Syndrome	Broad columella, Failure to thrive, Cachexia, Underdeveloped nasal alae	ORPHA:217346
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Depressed nasal bridge, Broad nasal tip, Dystonia, Cherry red spot ...	ORPHA:79255
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Yao Syndrome	Weight loss	OMIM:617321
Lynch Syndrome	Irritability, Memory impairment, Weight loss, Anxiety	ORPHA:144
Short Syndrome	Weight loss, Wide nasal bridge	ORPHA:3163
Symptomatic Form Of Hemochromatosis Type 1	Apathy, Weight loss	ORPHA:465508
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
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
Rheumatoid Arthritis	Weight loss	OMIM:180300
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Familial Colorectal Cancer Type X	Irritability, Memory impairment, Weight loss, Anxiety	ORPHA:440437
Acrodermatitis Enteropathica	Emotional lability, Failure to thrive, Weight loss	ORPHA:37
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Loeffler Endocarditis	Weight loss	ORPHA:75566
Celiac Disease, Susceptibility To, 1	Failure to thrive, Weight loss, Anxiety	OMIM:212750
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia, Anteverted nares, Midline defect of the nose	ORPHA:1969
Seckel Syndrome	Cachexia, Convex nasal ridge, Cognitive impairment	ORPHA:808
Wolman Disease	Cachexia	ORPHA:75233
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Ménétrier Disease	Weight loss	ORPHA:2494
Beta-Ketothiolase Deficiency	Apathy, Weight loss	ORPHA:134
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abscess	OMIM:612852
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Acute Promyelocytic Leukemia	Epistaxis, Weight loss	ORPHA:520
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Poems Syndrome	Papilledema, Weight loss	ORPHA:2905
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperactivity, Emotional lability	OMIM:620047
Bronchial Neuroendocrine Tumor	Pulmonary carcinoid tumor, Weight loss	ORPHA:97287
Klatskin Tumor	Weight loss	ORPHA:99978
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Weight loss	ORPHA:370348
Primary Hepatic Neuroendocrine Carcinoma	Carcinoid tumor, Neuroendocrine neoplasm, Weight loss	ORPHA:100085
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Cachexia, Optic atrophy	ORPHA:220295
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Polymyositis	Weight loss	ORPHA:732
Cockayne Syndrome	Pigmentary retinopathy, Retinal hemorrhage, Retinal arteriolar constriction, Convex nasal ridge, ...	ORPHA:191
Malignant Atrophic Papulosis	Abnormal optic nerve morphology, Weight loss	ORPHA:679
Hermansky-Pudlak Syndrome	Epistaxis, Abnormal optic nerve morphology, Weight loss, Ocular albinism	ORPHA:79430
Sweet Syndrome	Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Elevat...	ORPHA:3243
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Familial Mediterranean Fever	Nephrotic syndrome, Stage 5 chronic kidney disease, Neutrophilia, Elevated circulating C-reactive...	OMIM:249100
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Weight loss	ORPHA:183
Al Amyloidosis	Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction, Weight loss, Postur...	ORPHA:85443
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Granulomatosis With Polyangiitis	Retinal hemorrhage, Concave nasal ridge, Weight loss	OMIM:608710
Pneumocystosis	Weight loss	ORPHA:723
Charge Syndrome	Retinal coloboma, Choanal atresia, Anosmia, Self-mutilation, Facial palsy	OMIM:214800
Neuroendocrine Tumor Of Stomach	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss, Paraganglioma	ORPHA:100075
Lacrimoauriculodentodigital Syndrome	Anosmia, Choanal atresia	ORPHA:2363
Refractory Celiac Disease	Weight loss	ORPHA:398063
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Cachexia, Short nose, Anteverted nares, Abnormal optic nerve morphology	ORPHA:109
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Polycythemia Vera	Epistaxis, Weight loss	ORPHA:729
Silver-Russell Syndrome	Cachexia, Failure to thrive in infancy, Obesity	ORPHA:813
Lysosomal Acid Lipase Deficiency	Cognitive impairment, Weight loss, Cachexia, Psychomotor deterioration, Failure to thrive	ORPHA:275761
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:199299
Simple Cryoglobulinemia	Progressive neurologic deterioration, Weight loss	ORPHA:91139
3-Hydroxy-3-Methylglutaric Aciduria	Apathy, Weight loss	ORPHA:20
Thyrotoxic Periodic Paralysis	Tremor, Obesity, Abnormality of peripheral nerve conduction, Weight loss	ORPHA:79102
Trisomy 18	Cognitive impairment, Cachexia, Abnormality of retinal pigmentation, Short nose, Choanal atresia	ORPHA:3380
Solitary Fibrous Tumor/Hemangiopericytoma	Weight loss	ORPHA:2126
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Primary Myelofibrosis	Cachexia	ORPHA:824
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Retinopathy, Peripheral axonal neuropathy, Weight loss	ORPHA:99885
Riddle Syndrome	Emotional lability, Recurrent sinusitis, Weight loss	ORPHA:420741
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Oculopharyngodistal Myopathy 1	Tremor, Weight loss, Facial palsy	OMIM:164310
Norrie Disease	Self-injurious behavior, Optic atrophy, Cachexia, Abnormal chorioretinal morphology, Failure to t...	ORPHA:649
Behçet Disease	Retinopathy, Weight loss, Optic neuritis, Retrobulbar optic neuritis, Irritability, Memory impair...	ORPHA:117
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Thymoma	Weight loss	ORPHA:99867
Cystic Echinococcosis	Weight loss	ORPHA:400
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Nijmegen Breakage Syndrome	Convex nasal ridge, Prominent nose, Cachexia, Depressed nasal bridge, Mental deterioration, Promi...	ORPHA:647
Cushing Syndrome Due To Ectopic Acth Secretion	Memory impairment, Suicidal ideation, Weight loss, Anxiety, Pancreatic endocrine tumor, Atypical ...	ORPHA:99889
Mucolipidosis Type Ii	Depressed nasal bridge, Cognitive impairment, Weight loss	ORPHA:576
Reactive Arthritis	Cognitive impairment, Weight loss	ORPHA:29207
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Aicardi-Goutieres Syndrome 7	Irritability, Dystonia, Weight loss	OMIM:615846
Acute Adrenal Insufficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:95409
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight	ORPHA:2298
Schwartz-Jampel Syndrome	Blepharospasm, Decreased body weight, Cachexia, Anxiety, Irritability, Prominent nasal bridge	ORPHA:800
Whipple Disease	Cachexia	ORPHA:3452
African Trypanosomiasis	Aggressive behavior, Weight loss, Papilledema, Apathy, Choreoathetosis, Optic neuritis, Tremor, A...	ORPHA:3385
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Cystinosis, Nephropathic	Retinopathy, Weight loss, Retinal pigment epithelial mottling, Progressive neurologic deteriorati...	OMIM:219800
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Pancreatoblastoma	Weight loss	ORPHA:677
Granulomatosis With Polyangiitis	Epistaxis, Retinopathy, Weight loss, Abnormality of the nose	ORPHA:900
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Jejunal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100077
Familial Thrombocytosis	Weight loss	ORPHA:71493
Camurati-Engelmann Disease	Optic nerve compression, Optic atrophy, Cachexia, Slender build, Facial palsy	ORPHA:1328
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal optic nerve morphology, Optic nerve compression, Weight loss	ORPHA:79078
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Pyomyositis	Weight loss	ORPHA:764
Zollinger-Ellison Syndrome	Glucagonoma, Neuroendocrine neoplasm, Weight loss	ORPHA:913
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Multiple Endocrine Neoplasia Type 1	Cranial nerve compression, Weight loss, Pancreatic endocrine tumor, Intestinal carcinoid, Pheochr...	ORPHA:652
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Tropical Pancreatitis	Weight loss	ORPHA:103918
Q Fever	Weight loss	ORPHA:781
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Macular edema, Weight loss, Choroidal neovascularization, Abnormality of ret...	ORPHA:91500
Grfoma	Intestinal carcinoid, Weight loss, Pheochromocytoma	ORPHA:97261
Caroli Disease	Weight loss	ORPHA:53035
Hepatocellular Carcinoma	Emotional lability, Weight loss	ORPHA:88673
Microsporidiosis	Cachexia, Rhinitis, Weight loss	ORPHA:2552
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Castleman Disease	Weight loss	ORPHA:160
Alveolar Echinococcosis	Weight loss	ORPHA:284
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Chorioretinitis, Weight loss	OMIM:181000
Addison Disease	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:85138
Brucellosis	Chorioretinitis, Weight loss, Small for gestational age, Failure to thrive, Abnormality of the pe...	ORPHA:1304
Yellow Fever	Anuria, Renal insufficiency, Acute kidney injury, Hyperbilirubinemia, Neutrophilia, Elevated circ...	ORPHA:99829
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Fanconi Anemia	Aganglionic megacolon, Weight loss, Choanal atresia	ORPHA:84
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Cachexia, Failure to thrive in infancy	ORPHA:37042
Stickler Syndrome	Depressed nasal ridge, Cachexia, Short nose, Depressed nasal bridge, Anteverted nares, Retinal de...	ORPHA:828
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss	ORPHA:91347
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Postinfectious Vasculitis	Retinal vasculitis, Weight loss, Abnormality of the peripheral nervous system	ORPHA:48435
Immunodeficiency 31C	Weight loss	OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Rat-Bite Fever	Weight loss	ORPHA:31205
Multiple Myeloma	Weight loss	ORPHA:29073
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Malt Lymphoma	Weight loss	ORPHA:52417
Juvenile Polyposis Of Infancy	Depressed nasal bridge, Cachexia	ORPHA:79076
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Spontaneous, recurrent epistaxis, Cachexia	ORPHA:2072
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Wide nasal bridge, Short nose, Broad nasal tip, Anteverted nares, L...	OMIM:619522
Somatostatinoma	Weight loss	ORPHA:97283
Hutchinson-Gilford Progeria Syndrome	Convex nasal ridge, Narrow nasal ridge, Weight loss, Narrow nasal tip, Severe failure to thrive, ...	ORPHA:740
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Nocardiosis	Chorioretinitis, Weight loss	ORPHA:31204
Glucagonoma	Weight loss	ORPHA:97280
Parathyroid Carcinoma	Weight loss	ORPHA:143
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Optic disc pallor, Dystonia	ORPHA:438213
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Marfan Syndrome	Slender build, Cachexia, Retinal detachment	ORPHA:558
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Proteus Syndrome	Retinal hamartoma, Cachexia, Abnormality of retinal pigmentation, Depressed nasal bridge, Retinal...	ORPHA:744
Dermatomyositis	Weight loss	ORPHA:221
Sarcoidosis	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	ORPHA:50918
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921

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Gene: Nav2 MGI:2183691

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Nav2 mutations