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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
abnormal skin morphology	Nav2^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased exploration in new environment	Nav2^em1(IMPC)Tcp	HOM	Early adult	5.64×10^-08
increased neutrophil cell number	Nav2^em1(IMPC)Tcp	HOM	Early adult	2.44×10^-05
hyperactivity	Nav2^em1(IMPC)Tcp	HOM	Early adult	6.89×10^-07
increased circulating aspartate transaminase level	Nav2^em1(IMPC)Tcp	HOM	Early adult	1.38×10^-07
small kidney	Nav2^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased thigmotaxis	Nav2^em1(IMPC)Tcp	HOM	Early adult	4.70×10^-05

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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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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body 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 (500 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
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia	OMIM:238700
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Hyposmia, Intentio...	OMIM:613724
Schizophrenia 15	Hyperactivity	OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Huntington Disease-Like 2	Subcortical dementia, Depression, Weight loss, Irritability, Dementia, Dystonia, Memory impairmen...	OMIM:606438
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ...	ORPHA:66624
Huntington Disease-Like 2	Memory impairment, Dystonia, Dementia, Weight loss	ORPHA:98934
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Huntington Disease	Bradyphrenia, Depression, Abnormality of the sense of smell, Weight loss, Irritability, Hostility...	ORPHA:399
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp...	OMIM:605899
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoac...	OMIM:234500
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi...	OMIM:615994
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur...	OMIM:239500
Hyperostosis Cranialis Interna	Hyposmia, Optic atrophy, Anosmia, Facial palsy	OMIM:144755
Pulmonary Blastoma	Weight loss	ORPHA:64741
Bardet-Biedl Syndrome 19	Hyposmia, Rod-cone dystrophy, Obesity, Cone/cone-rod dystrophy	OMIM:615996
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Anosmia, Obesity	OMIM:617885
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas...	OMIM:261600
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia	OMIM:602079
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Anosmia, Obesity	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
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Chronic Hiccup	Depression, Weight loss	ORPHA:396
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
Tuberculosis	Weight loss	ORPHA:3389
Perry Syndrome	Tremor, Depression, Dementia, Weight loss	ORPHA:178509
Parkinson Disease 8, Autosomal Dominant	Hyposmia, Resting tremor, Dementia	OMIM:607060
Young-Onset Parkinson Disease	Short attention span, Tremor, Depression, Frontal lobe dementia, Dementia, Abnormal autonomic ner...	ORPHA:2828
Hereditary Late-Onset Parkinson Disease	Resting tremor, Mental deterioration, Weight loss, Depression, Dementia, Low frustration toleranc...	ORPHA:411602
Kleine-Levin Syndrome	Confusion, Depression, Irritability, Transient global amnesia, Cognitive impairment, Parosmia	ORPHA:33543
Musk, Inability To Smell	Anosmia	OMIM:254150
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Oromandibular Dystonia	Torticollis, Generalized dystonia, Abnormality of the nose, Weight loss, Blepharospasm, Depressio...	ORPHA:93958
Spinocerebellar Ataxia 48	Cachexia, Tremor, Depression, Irritability, Dystonia, Mental deterioration	OMIM:618093
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Bifid nose	OMIM:614838
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Peroxisome Biogenesis Disorder 9B	Rod-cone dystrophy, Anosmia, Total anosmia	OMIM:614879
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia, Axonal dege...	OMIM:601152
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia, Abnormal cranial nerve morphology	ORPHA:2057
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory anomaly, Abnormality of t...	ORPHA:91412
Kufor-Rakeb Syndrome	Torticollis, Tremor, Anosmia, Dementia, Dystonia, Hyposmia	OMIM:606693
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Pigmentary retinopathy, Cogni...	ORPHA:216866
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Abnormal autonomic nervous system physiology, Anosmia, Abnormal nerve conduction velocity	OMIM:243000
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh...	OMIM:619827
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:612702
Juvenile Huntington Disease	Depression, Weight loss, Irritability, Dementia, Dystonia	ORPHA:248111
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Dementia, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Mulibrey Nanism	Wide nasal bridge, Cachexia	ORPHA:2576
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge, Frontalis muscle weakness	OMIM:210745
Idiopathic Achalasia	Weight loss	ORPHA:930
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri...	OMIM:616881
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm...	ORPHA:98818
Johnson Neuroectodermal Syndrome	Facial palsy, Choanal atresia, Bulbous nose, Anosmia, Failure to thrive	ORPHA:2316
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:244200
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ...	OMIM:609541
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Progressive neurologic deterioration, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re...	ORPHA:320406
Hereditary Central Diabetes Insipidus	Irritability, Weight loss	ORPHA:30925
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Anosmia, Choanal atresia	OMIM:147950
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Cachexia, Tremor, Abnormality of macular pigmentation, Abnormal ...	ORPHA:97229
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced b...	ORPHA:100924
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Gorlin Syndrome	Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Refsum Disease, Classic	Rod-cone dystrophy, Anosmia, Retinal degeneration	OMIM:266500
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S...	OMIM:615516
Septo-Optic Dysplasia Spectrum	Optic nerve hypoplasia, Septo-optic dysplasia, Anosmia, Obesity	ORPHA:3157
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia	OMIM:614880
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che...	ORPHA:309246
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Hyposmia, Anosmia	OMIM:308700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:614897
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Anosmia	OMIM:308750
Isaacs Syndrome	Weight loss	ORPHA:84142
Polyendocrine-Polyneuropathy Syndrome	Dystonia, Abnormality of the sense of smell	OMIM:616113
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Tay-Sachs Disease	Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia	OMIM:272800
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s...	OMIM:147250
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Central Diabetes Insipidus	Depression, Failure to thrive, Weight loss	ORPHA:178029
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Failure...	OMIM:617864
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Attrv30M Amyloidosis	Vitreous floaters, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Torticollis, Oculogyric crisis, Limb tremor, Nasal congestion, Chor...	OMIM:608643
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Refsum Disease	Retinopathy, Abnormality of retinal pigmentation, Anosmia	ORPHA:773
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Perry Syndrome	Tremor, Frontotemporal dementia, Depression, Weight loss, Dystonia	OMIM:168605
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Holoprosencephaly	Aplasia/Hypoplasia involving the nose, Anteverted nares, Failure to thrive in infancy, Choanal at...	ORPHA:2162
Hydrolethalus	Abnormality of the sense of smell	ORPHA:2189
Isolated Succinate-Coq Reductase Deficiency	Progressive psychomotor deterioration, Weight loss, Pigmentary retinopathy, Irritability, Dementi...	ORPHA:3208
Gerstmann-Straussler Disease	Tremor, Depression, Memory impairment, Weight loss, Dementia, Emotional lability	OMIM:137440
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypertensive retinopathy, Tremor, Cranial nerve compression, Weig...	ORPHA:94080
Leber Optic Atrophy	Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb...	OMIM:535000
Superficial Siderosis	Partial anosmia, Anosmia, Abnormality of the vestibulocochlear nerve, Abnormality of the brachial...	ORPHA:247245
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility	OMIM:266265
Trigeminal Neuralgia	Peripheral demyelination, Cranial nerve compression, Allodynia, Depression	ORPHA:221091
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Retinoschisis, Action tremor	OMIM:615651
Kallmann Syndrome	Hyposmia, Tremor, Anosmia, Obesity	ORPHA:478
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:228300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Huntington Disease-Like 1	Depression, Weight loss, Dementia, Cognitive impairment, Memory impairment	ORPHA:157941
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms	ORPHA:391307
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Meningioma	Papilledema, Facial palsy, Neurofibroma, Obesity, Abnormality of the sense of smell, Memory impai...	ORPHA:2495
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Decreased numb...	ORPHA:298
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Moynahan Syndrome	Cachexia	ORPHA:2574
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
8Q21.11 Microdeletion Syndrome	Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell	ORPHA:284160
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Weight loss	ORPHA:388
Congenital Tufting Enteropathy	Choanal atresia, Optic disc coloboma, Weight loss, Irritability, Failure to thrive	ORPHA:92050
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Dystonia	ORPHA:702
X-Linked Adrenoleukodystrophy	Hyperactivity, Neurogenic bladder, Aggressive behavior, Dementia, Disinhibition, Attention defici...	ORPHA:43
Graves Disease, Susceptibility To, 1	Irritability, Weight loss	OMIM:275000
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou...	ORPHA:449291
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Anosmia, Chronic rhinitis	OMIM:244400
Pfapa Syndrome	Recurrent pharyngitis, Weight loss	ORPHA:42642
Christianson Syndrome	Dystonia, Cachexia, Abnormality of the nose	ORPHA:85278
Gm1 Gangliosidosis	Generalized dystonia, Depressed nasal bridge, Broad nasal tip, Abnormal retinal vascular morpholo...	ORPHA:354
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Cachexia	ORPHA:1389
Mcdonough Syndrome	Underdeveloped nasal alae, Cachexia, Prominent nose	ORPHA:2471
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Cachexia, Progressive ...	ORPHA:206436
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss	OMIM:613239
Rhabdoid Tumor	Irritability, Weight loss	ORPHA:69077
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Anteverted nares, Underdeveloped nasal alae, ...	ORPHA:438216
Glossopharyngeal Neuralgia	Cranial nerve compression, Schwannoma, Depression, Weight loss, Abnormal glossopharyngeal nerve m...	ORPHA:221098
Isolated Follicle Stimulating Hormone Deficiency	Anosmia	ORPHA:52901
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Wilson Disease	Dystonia, Decreased nerve conduction velocity, Tremor, Hand tremor, Dementia, Limb dystonia, Hypo...	OMIM:277900
Focal Myositis	Weight loss	ORPHA:48918
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Fatal Familial Insomnia	Dementia, Abnormal autonomic nervous system physiology, Weight loss	OMIM:600072
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Anteverted nares, Failure to thrive in infancy, Cachexia, Prominent nose, Prominent nasal bridge,...	OMIM:616801
Flynn-Aird Syndrome	Rod-cone dystrophy, Cachexia, Dementia	ORPHA:2047
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Cachexia, Head titubation, Opisthotonus, Arm dystonia, Retrocollis, Dystonia, Oro...	ORPHA:300605
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Heparan sulfate excreti...	OMIM:252920
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Moebius Syndrome	Facial palsy, Abnormality of the sense of smell	ORPHA:570
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevated circulating...	OMIM:619644
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Depression	OMIM:620114
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Bone Dysplasia, Lethal Holmgren Type	Anteverted nares, Failure to thrive, Depressed nasal ridge, Weight loss	ORPHA:1842
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopeni...	ORPHA:760
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anorexia	ORPHA:1302
Waardenburg Syndrome, Type 2E	Anosmia, Hypopigmentation of the fundus, Ocular albinism	OMIM:611584
Follicular Lymphoma	Weight loss	ORPHA:545
Stiff-Person Syndrome	Depression, Exaggerated startle response, Opisthotonus	OMIM:184850
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac...	OMIM:610042
8P11.2 Deletion Syndrome	Anosmia, Retinal dystrophy, Depressed nasal bridge	ORPHA:251066
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ...	ORPHA:276621
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu...	ORPHA:36238
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine...	OMIM:609727
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Pleural Mesothelioma	Weight loss	ORPHA:50251
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hyposmia, Anosmia, Absent nares, Single naris	ORPHA:2250
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Tremor, Optic atrophy, Depression, Memory imp...	ORPHA:845
Benign Schwannoma	Nasal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cran...	ORPHA:252164
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Anteverted nares, Depressed nasal bridge	OMIM:617301
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Wide nasal bridge, Cachexia	ORPHA:1438
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Amoebiasis Due To Free-Living Amoebae	Hyposmia, Irritability, Confusion, Facial palsy	ORPHA:68
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Convex nasal ridge, Cachexia, Weight loss	ORPHA:1979
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy, Cognitive impairment, Short nose, Failure to thrive	OMIM:617527
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Holocarboxylase Synthetase Deficiency	Irritability, Weight loss	ORPHA:79242
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica...	OMIM:207800
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Prominent nasal tip, ...	OMIM:615574
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Facial diplegia, Cachexia, Dystonia	OMIM:618186
Renpenning Syndrome	Broad columella, Cachexia, Prominent nose	ORPHA:3242
Kaposi Sarcoma	Abnormal retinal morphology, Weight loss	ORPHA:33276
Takayasu Arteritis	Retinopathy, Weight loss	ORPHA:3287
Wilson Disease	Depression, Failure to thrive, Increased body weight, Weight loss	ORPHA:905
X-Linked Creatine Transporter Deficiency	Athetosis, Aganglionic megacolon, Cachexia, Dystonia	ORPHA:52503
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Waardenburg Syndrome, Type 4C	Aganglionic megacolon, Anosmia	OMIM:613266
Aicardi-Goutieres Syndrome 9	Optic atrophy, Chorioretinal atrophy, Weight loss, Irritability, Dystonia, Failure to thrive	OMIM:619487
Deafness-Lymphedema-Leukemia Syndrome	Abnormal optic nerve morphology, Weight loss	ORPHA:3226
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ...	ORPHA:29072
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Weight loss, Dementia, Slender build, Allodynia	OMIM:603041
Tetrasomy 12P	Short nose, Anteverted nares, Cachexia	ORPHA:884
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Anteverted nares, Prominent nasal bridge, Cachexia, Wide nasal bridge, Severe failure to thrive, ...	ORPHA:371364
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Leishmaniasis	Rhinitis, Weight loss	ORPHA:507
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Liposarcoma	Weight loss	ORPHA:69078
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Dystonia, Short nose, Failure to thrive	ORPHA:521426
Cap Polyposis	Weight loss	ORPHA:160148
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia, Obesity	OMIM:618653
Bullous Pemphigoid	Weight loss	ORPHA:703
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia	ORPHA:1933
Sandhoff Disease	Cherry red spot of the macula, Exaggerated startle response, Progressive psychomotor deterioratio...	OMIM:268800
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Charge Syndrome	Depressed nasal bridge, Facial palsy, Choanal atresia, Anosmia, Optic atrophy, Chorioretinal colo...	ORPHA:138
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Osteosarcoma	Weight loss	ORPHA:668
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy, Prominent nose	OMIM:617281
Thymic Carcinoma	Weight loss	ORPHA:99868
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Wide nasal bridge, Obesity, Weight loss, Attention deficit hyperactivity ...	ORPHA:251071
Giant Cell Arteritis	Epistaxis, Recurrent pharyngitis, Optic atrophy, Depression, Weight loss	ORPHA:397
Rett Syndrome	Motor deterioration, Cachexia, Dystonia	OMIM:312750
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ganglioneuroma, Horner syndrome, Weight loss	OMIM:256700
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Immunodeficiency 27A	Weight loss	OMIM:209950
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
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	Wide nasal bridge, Cachexia	ORPHA:2774
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Thymic Neuroendocrine Tumor	Neuroendocrine neoplasm, Carcinoid tumor, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia	OMIM:619718
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Depression, Weight loss, Dimin...	OMIM:607459
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Chronic Beryllium Disease	Weight loss	ORPHA:133
Eosinophilic Gastroenteritis	Allergic rhinitis, Weight loss	ORPHA:2070
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Optic atrophy, Confusion, Cachexia	ORPHA:220295
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Pemphigus Vulgaris	Weight loss	ORPHA:704
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Occipital Horn Syndrome	Abnormality of the sense of smell	ORPHA:198
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Secondary Short Bowel Syndrome	Failure to thrive, Aganglionic megacolon, Weight loss	ORPHA:95427
Xfe Progeroid Syndrome	Cachexia, Optic atrophy, Failure to thrive, Convex nasal ridge, Attenuation of retinal blood vessels	OMIM:610965
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Lynch Syndrome	Depression, Weight loss, Irritability, Attention deficit hyperactivity disorder, Memory impairment	ORPHA:144
Bosma Arhinia Microphthalmia Syndrome	Anosmia, Choanal atresia, Aplasia of the nose	OMIM:603457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia	OMIM:253800
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Prominent nasal bridge, Cachexia	ORPHA:2058
Nephroblastoma	Weight loss	ORPHA:654
Aredyld Syndrome	Abnormal nasal morphology, Cachexia	ORPHA:1133
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Familial Colorectal Cancer Type X	Depression, Weight loss, Irritability, Attention deficit hyperactivity disorder, Memory impairment	ORPHA:440437
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
Felty Syndrome	Recurrent pharyngitis, Rhinitis, Weight loss	ORPHA:47612
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Emotional lability, Hyperactivity	OMIM:620047
19Q13.11 Microdeletion Syndrome	Failure to thrive, Broad columella, Cachexia, Underdeveloped nasal alae	ORPHA:217346
Leopard Syndrome 1	Hyposmia, Depressed nasal ridge	OMIM:151100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
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
Adrenocortical Carcinoma	Irritability, Increased body weight, Weight loss	ORPHA:1501
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Self-mutilation of tong...	ORPHA:2388
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Yao Syndrome	Weight loss	OMIM:617321
Acrodermatitis Enteropathica	Emotional lability, Failure to thrive, Weight loss	ORPHA:37
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-...	OMIM:617099
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Short Syndrome	Wide nasal bridge, Weight loss	ORPHA:3163
X-Linked Intellectual Disability, Cabezas Type	Tremor, Obesity, Cachexia, Prominent nose	ORPHA:85293
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Celiac Disease, Susceptibility To, 1	Depression, Failure to thrive, Weight loss	OMIM:212750
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
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Loeffler Endocarditis	Weight loss	ORPHA:75566
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Midline defect of the nose, Cachexia	ORPHA:1969
Wolman Disease	Cachexia	ORPHA:75233
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Seckel Syndrome	Cognitive impairment, Convex nasal ridge, Cachexia	ORPHA:808
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Acute Promyelocytic Leukemia	Epistaxis, Weight loss	ORPHA:520
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia	ORPHA:293173
Ménétrier Disease	Weight loss	ORPHA:2494
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Granulomatosis With Polyangiitis	Concave nasal ridge, Nasal mucosa vasculitis, Retinal hemorrhage, Weight loss	OMIM:608710
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Poems Syndrome	Papilledema, Weight loss	ORPHA:2905
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Weight loss	ORPHA:370348
Bronchial Neuroendocrine Tumor	Pulmonary carcinoid tumor, Weight loss	ORPHA:97287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Primary Hepatic Neuroendocrine Carcinoma	Neuroendocrine neoplasm, Carcinoid tumor, Weight loss	ORPHA:100085
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration	OMIM:612852
Malignant Atrophic Papulosis	Abnormal optic nerve morphology, Weight loss	ORPHA:679
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip...	ORPHA:191
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Polymyositis	Weight loss	ORPHA:732
Pneumocystosis	Weight loss	ORPHA:723
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Weight loss	ORPHA:183
Hermansky-Pudlak Syndrome	Ocular albinism, Abnormal optic nerve morphology, Epistaxis, Weight loss	ORPHA:79430
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Refractory Celiac Disease	Weight loss	ORPHA:398063
Klatskin Tumor	Weight loss	ORPHA:99978
Al Amyloidosis	Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto...	ORPHA:85443
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Lacrimoauriculodentodigital Syndrome	Anosmia, Choanal atresia	ORPHA:2363
Neuroendocrine Tumor Of Stomach	Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100075
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Cachexia, Abnormal optic nerve morphology, Short nose	ORPHA:109
Polycythemia Vera	Epistaxis, Weight loss	ORPHA:729
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:199299
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Whipple Disease	Cachexia, Depression	ORPHA:3452
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Lysosomal Acid Lipase Deficiency	Psychomotor deterioration, Cachexia, Weight loss, Cognitive impairment, Failure to thrive	ORPHA:275761
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Trisomy 18	Abnormality of retinal pigmentation, Choanal atresia, Cachexia, Cognitive impairment, Short nose	ORPHA:3380
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Behçet Disease	Confusion, Retrobulbar optic neuritis, Weight loss, Irritability, Optic neuritis, Memory impairme...	ORPHA:117
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Primary Myelofibrosis	Cachexia	ORPHA:824
Simple Cryoglobulinemia	Progressive neurologic deterioration, Weight loss	ORPHA:91139
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Thyrotoxic Periodic Paralysis	Tremor, Obesity, Abnormality of peripheral nerve conduction, Weight loss	ORPHA:79102
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Charge Syndrome	Facial palsy, Anosmia, Choanal atresia, Retinal coloboma	OMIM:214800
Nijmegen Breakage Syndrome	Depressed nasal bridge, Prominent nasal bridge, Cachexia, Prominent nose, Attention deficit hyper...	ORPHA:647
Riddle Syndrome	Emotional lability, Recurrent sinusitis, Weight loss	ORPHA:420741
Oculopharyngodistal Myopathy 1	Tremor, Facial palsy, Weight loss	OMIM:164310
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Failure to thrive, Retinopathy, Weight loss	ORPHA:99885
Multiple Endocrine Neoplasia Type 1	Short attention span, Confusion, Pancreatic endocrine tumor, Cranial nerve compression, Insulinom...	ORPHA:652
Beta-Ketothiolase Deficiency	Weight loss	ORPHA:134
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Thymoma	Weight loss	ORPHA:99867
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Cystic Echinococcosis	Weight loss	ORPHA:400
Mucolipidosis Type Ii	Depressed nasal bridge, Cognitive impairment, Weight loss	ORPHA:576
Norrie Disease	Narrow nasal bridge, Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyalo...	ORPHA:649
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response	OMIM:618367
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Schwartz-Jampel Syndrome	Prominent nasal bridge, Cachexia, Blepharospasm, Irritability, Attention deficit hyperactivity di...	ORPHA:800
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss	ORPHA:20
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration, Anor...	ORPHA:99827
Acute Adrenal Insufficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:95409
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Aicardi-Goutieres Syndrome 7	Irritability, Dystonia, Weight loss	OMIM:615846
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Reactive Arthritis	Cognitive impairment, Weight loss	ORPHA:29207
Cystinosis, Nephropathic	Failure to thrive in infancy, Progressive neurologic deterioration, Retinal pigment epithelial mo...	OMIM:219800
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic endocrine tumor, Increased body weight, Weight loss, Pulmonary carcinoid tumor, Trunca...	ORPHA:99889
Brucellosis	Small for gestational age, Abnormality of the peripheral nervous system, Weight loss, Depression,...	ORPHA:1304
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Granulomatosis With Polyangiitis	Retinopathy, Abnormality of the nose, Epistaxis, Weight loss	ORPHA:900
Pancreatoblastoma	Weight loss	ORPHA:677
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, We...	ORPHA:91500
Familial Thrombocytosis	Weight loss	ORPHA:71493
African Trypanosomiasis	Papilledema, Tremor, Weight loss, Choreoathetosis, Irritability, Optic neuritis, Delirium	ORPHA:3385
Camurati-Engelmann Disease	Facial palsy, Cachexia, Optic atrophy, Optic nerve compression, Slender build	ORPHA:1328
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Abnormal optic nerve morphology, Weight loss	ORPHA:79078
Pyomyositis	Weight loss	ORPHA:764
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Microsporidiosis	Rhinitis, Cachexia, Weight loss	ORPHA:2552
Tropical Pancreatitis	Weight loss	ORPHA:103918
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Q Fever	Weight loss	ORPHA:781
Caroli Disease	Weight loss	ORPHA:53035
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Zollinger-Ellison Syndrome	Neuroendocrine neoplasm, Glucagonoma, Weight loss	ORPHA:913
Alveolar Echinococcosis	Weight loss	ORPHA:284
Addison Disease	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:85138
Primary Sclerosing Cholangitis	Depression, Weight loss	ORPHA:171
Sarcoidosis, Susceptibility To, 1	Chorioretinitis, Optic neuropathy, Weight loss	OMIM:181000
Castleman Disease	Weight loss	ORPHA:160
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Grfoma	Pheochromocytoma, Intestinal carcinoid, Weight loss	ORPHA:97261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Fanconi Anemia	Aganglionic megacolon, Choanal atresia, Weight loss	ORPHA:84
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Glucagonoma	Depression, Weight loss	ORPHA:97280
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Stickler Syndrome	Retinal detachment, Anteverted nares, Depressed nasal bridge, Cachexia, Depressed nasal ridge, Ab...	ORPHA:828
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss	ORPHA:91347
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Anteverted nares, Broad nasal tip, Long nose, Bulbous nose, Wide na...	OMIM:619522
Yellow Fever	Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Le...	ORPHA:99829
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Postinfectious Vasculitis	Retinal vasculitis, Abnormality of the peripheral nervous system, Weight loss	ORPHA:48435
Malt Lymphoma	Weight loss	ORPHA:52417
Immunodeficiency 31C	Weight loss	OMIM:614162
Multiple Myeloma	Weight loss	ORPHA:29073
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Marfan Syndrome	Retinal detachment, Attention deficit hyperactivity disorder, Slender build, Cachexia	ORPHA:558
Rat-Bite Fever	Weight loss	ORPHA:31205
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Juvenile Polyposis Of Infancy	Depressed nasal bridge, Cachexia	ORPHA:79076
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Papilledema, Cachexia	ORPHA:2072
Hutchinson-Gilford Progeria Syndrome	Narrow nasal tip, Narrow nasal ridge, Weight loss, Abnormal nasal tip morphology, Severe failure ...	ORPHA:740
Nocardiosis	Chorioretinitis, Weight loss	ORPHA:31204
Somatostatinoma	Weight loss	ORPHA:97283
Parathyroid Carcinoma	Weight loss	ORPHA:143
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Dystonia	ORPHA:438213
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss

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Gene: Nav2 MGI:2183691

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Gross Pathology and Tissue Collection

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Eye Morphology

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Human diseases caused by Nav2 mutations