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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
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
increased neutrophil cell number	Nav2^em1(IMPC)Tcp	HOM	Early adult	2.46×10^-05
small kidney	Nav2^em1(IMPC)Tcp	HOM	Early adult	0.00
hyperactivity	Nav2^em1(IMPC)Tcp	HOM	Early adult	6.89×10^-07
decreased exploration in new environment	Nav2^em1(IMPC)Tcp	HOM	Early adult	5.96×10^-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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 Whole Body Dorso Ventral

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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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 (496 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	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Huntington Disease-Like 2	Subcortical dementia, Apathy, Anxiety, Dementia, Inertia, Irritability, Memory impairment, Action...	OMIM:606438
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinuria, Anemia, Cognitive impairment, Hyperlysinemia	OMIM:238700
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Hyposmia, Decreased motor nerve conduction velocity, Head tremor, Intention tremor, ...	OMIM:613724
Schizophrenia 15	Hyperactivity	OMIM:613950
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Huntington Disease	Decreased body mass index, Suicidal ideation, Apathy, Anxiety, Irritability, Memory impairment, M...	ORPHA:399
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Huntington Disease-Like 2	Dystonia, Dementia, Memory impairment, Weight loss	ORPHA:98934
Intellectual Developmental Disorder, Autosomal Recessive 37	Aggressive behavior, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Aggressive behavior, Hyperactivity	ORPHA:356996
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Bardet-Biedl Syndrome 19	Hyposmia, Rod-cone dystrophy, Obesity	OMIM:615996
Glycine Encephalopathy 1	Hyperglycinemia, Hyperactivity, Restlessness, Irritability, Hyperglycinuria, Aggressive behavior,...	OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity	OMIM:619031
Bardet-Biedl Syndrome 17	Macular atrophy, Cone/cone-rod dystrophy, Cognitive impairment, Hyposmia, Retinal degeneration, B...	OMIM:615994
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response	OMIM:617028
Smith-Magenis syndrome	Self-mutilation, Hyperactivity	DECIPHER:8
Hyperostosis Cranialis Interna	Facial palsy, Optic atrophy, Hyposmia, Anosmia	OMIM:144755
Pulmonary Blastoma	Weight loss	ORPHA:64741
Body Mass Index Quantitative Trait Locus 19	Anosmia, Hyposmia, Obesity	OMIM:617885
Hartnup Disorder	Emotional lability, Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperac...	OMIM:234500
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Anosmia, Hyposmia, 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
Young-Onset Parkinson Disease	Apathy, Cognitive impairment, Anxiety, Dementia, Abnormal autonomic nervous system physiology, Fr...	ORPHA:2828
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
Hyperprolinemia, Type I	Hyperactivity, Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Aggressive behavior, Hyperglycinuria	OMIM:239500
Parkinson Disease 8, Autosomal Dominant	Dementia, Hyposmia, Resting tremor	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	Apathy, Dementia, Hyposmia, Mental deterioration, Orthostatic hypotension due to autonomic dysfun...	ORPHA:411602
Perry Syndrome	Tremor, Dementia, Apathy, Weight loss	ORPHA:178509
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Anosmia, Hyposmia, Bifid nose	OMIM:614838
Kufor-Rakeb Syndrome	Torticollis, Dementia, Hyposmia, Tremor, Anosmia, Aggressive behavior, Dystonia	OMIM:606693
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Peroxisome Biogenesis Disorder 9B	Anosmia, Rod-cone dystrophy, Total anosmia	OMIM:614879
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic disc pallor, Decreased motor nerve conduction velocity, Anosmia, Optic atrophy, Axonal dege...	OMIM:601152
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Spinocerebellar Ataxia 48	Anxiety, Cachexia, Irritability, Tremor, Mental deterioration, Dystonia	OMIM:618093
Chondrodysplasia Punctata 1, X-Linked Recessive	Anosmia, Short nose, Short nasal septum, Depressed nasal bridge	OMIM:302950
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia, Abnormal cranial nerve morphology	ORPHA:2057
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Carcinoma Of Esophagus	Weight loss, Obesity	ORPHA:70482
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Abnormality of the sense of smell, Choanal atresia, Morn...	ORPHA:91412
Phenylketonuria	Increased level of hippuric acid in urine, Self-mutilation, Hyperphenylalaninemia, Hyperactivity,...	OMIM:261600
Intellectual Developmental Disorder, X-Linked 109	Impulsivity, Aggressive behavior, Hyperactivity, Agitation	OMIM:309548
Indifference To Pain, Congenital, Autosomal Recessive	Anosmia, Abnormal autonomic nervous system physiology, Hyposmia, Abnormal nerve conduction velocity	OMIM:243000
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Fraxe Intellectual Disability	Aggressive behavior, Hyperactivity, Impulsivity, Agitation	ORPHA:100973
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:612702
Diencephalic Syndrome	Optic atrophy, Decreased body weight, Cachexia	ORPHA:1672
Parkinson Disease 4, Autosomal Dominant	Dementia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Weight loss	OMIM:605543
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Riboflavin Transporter Deficiency	Abnormal cranial nerve morphology, Optic disc pallor, Cachexia, Abnormal autonomic nervous system...	ORPHA:97229
Mannosidosis, Beta A, Lysosomal	Aggressive behavior, Hyperactivity, Increased urinary disaccharide excretion	OMIM:248510
Mulibrey Nanism	Cachexia, Wide nasal bridge	ORPHA:2576
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Frontalis muscle weakness, Wide nasal bridge	OMIM:210745
Classic Pantothenate Kinase-Associated Neurodegeneration	Cognitive impairment, Pigmentary retinopathy, Optic disc pallor, Generalized dystonia, Opisthoton...	ORPHA:216866
Idiopathic Achalasia	Weight loss	ORPHA:930
Johnson Neuroectodermal Syndrome	Choanal atresia, Failure to thrive, Facial palsy, Bulbous nose, Anosmia	ORPHA:2316
Leukodystrophy, Hypomyelinating, 13	Irritability, Failure to thrive, Exaggerated startle response, Prolonged brainstem auditory evoke...	OMIM:616881
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Oromandibular Dystonia	Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Laryngeal dystonia, Abnormality ...	ORPHA:93958
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:244200
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni...	OMIM:202700
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Motor axonal neuropathy, Sensory axonal neuropathy, Optic disc pallor, Exaggerated startle respon...	OMIM:609541
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Progressive neurologic deterioration, Cachexia, Weight loss, Failure to thrive	OMIM:612075
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Mental deterioration, Hyperactivity	OMIM:615924
Juvenile Huntington Disease	Dystonia, Dementia, Irritability, Weight loss	ORPHA:248111
Tay-Sachs Disease	Apathy, Dementia, Cherry red spot of the macula, Exaggerated startle response, Psychomotor deteri...	OMIM:272800
Morm Syndrome	Aggressive behavior, Hyperactivity, Micropenis	ORPHA:75858
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve ...	ORPHA:320406
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Memory impairment, Self-inj...	OMIM:619827
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Anosmia, Choanal atresia, Hyposmia	OMIM:147950
Hereditary Central Diabetes Insipidus	Irritability, Weight loss	ORPHA:30925
Gm2 Gangliosidosis, Ab Variant	Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety, Cherry red spot of the mac...	ORPHA:309246
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Refsum Disease, Classic	Anosmia, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Gorlin Syndrome	Abnormality of the sense of smell, Wide nasal bridge	ORPHA:377
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Elevated circulating gamma-am...	OMIM:271980
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia	OMIM:614880
Septo-Optic Dysplasia Spectrum	Anosmia, Septo-optic dysplasia, Optic nerve hypoplasia, Obesity	ORPHA:3157
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Hyperactivity, Renal magnesium wasting, Hypokalemia, Renal potassium wasting, S...	OMIM:618314
Landau-Kleffner Syndrome	Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Memory impa...	ORPHA:98818
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Anosmia, Hyposmia, Eunuchoid habitus	OMIM:308700
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Chronic Hiccup	Weight loss	ORPHA:396
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:614897
Perry Syndrome	Apathy, Suicidal ideation, Anxiety, Frontotemporal dementia, Tremor, Dystonia, Weight loss	OMIM:168605
Isaacs Syndrome	Weight loss	ORPHA:84142
Non-Functioning Paraganglioma	Tremor, Cranial nerve compression, Paraganglioma, Paraganglioma of head and neck, Panic attack, H...	ORPHA:94080
Polyendocrine-Polyneuropathy Syndrome	Abnormality of the sense of smell, Dystonia	OMIM:616113
Kallmann Syndrome With Spastic Paraplegia	Anosmia, Eunuchoid habitus	OMIM:308750
Solitary Median Maxillary Central Incisor	Choanal atresia, Pyriform aperture stenosis, Midnasal stenosis, Anosmia, Abnormal nasopharynx mor...	OMIM:147250
Stiff Person Spectrum Disorder	Emotional lability, Agoraphobia, Anxiety, Exaggerated startle response	ORPHA:3198
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Congenital Hypothyroidism	Anosmia, Optic atrophy, Anxiety, Depressed nasal ridge	ORPHA:442
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Short nose, Abnormal nostril morphology	ORPHA:1295
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Attrv30M Amyloidosis	Vitreous floaters, Abnormal autonomic nervous system physiology, 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
Central Diabetes Insipidus	Anxiety, Weight loss, Failure to thrive	ORPHA:178029
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	Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity	ORPHA:101039
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Aromatic L-Amino Acid Decarboxylase Deficiency	Emotional lability, Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Ir...	OMIM:608643
Holoprosencephaly	Depressed nasal tip, Absent nares, Aplasia/Hypoplasia involving the nose, Cognitive impairment, F...	ORPHA:2162
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Irritability, Optic nerve hypoplasia, Failure to thrive	OMIM:617864
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Hydrolethalus	Abnormality of the sense of smell	ORPHA:2189
Leber Optic Atrophy	Optic neuropathy, Postural tremor, Central retinal vessel vascular tortuosity, Leber optic atroph...	OMIM:535000
Christianson Syndrome	Abnormality of the nose, Cachexia, Dystonia, Conspicuously happy disposition	ORPHA:85278
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Motor deterioration, Dementia, Irritability, Progressive psychomotor dete...	ORPHA:3208
Immunodeficiency 32B	Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp...	OMIM:226990
Leukoencephalopathy With Ataxia	Optic neuropathy, Retinoschisis, Action tremor, Chorioretinal atrophy, Choroidal neovascularization	OMIM:615651
Gerstmann-Straussler Disease	Emotional lability, Dementia, Memory impairment, Tremor, Aggressive behavior, Weight loss	OMIM:137440
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Superficial Siderosis	Cognitive impairment, Partial anosmia, Dementia, Memory impairment, Abnormality of the brachial n...	ORPHA:247245
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Transient hyperphenylalaninemia, Aggressive behavior, Hyperactivity	OMIM:612716
Kallmann Syndrome	Tremor, Anosmia, Hyposmia, Obesity	ORPHA:478
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Short-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased ...	OMIM:609136
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Intellectual Developmental Disorder, X-Linked 107	Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity	OMIM:301013
Meningioma	Emotional lability, Transient global amnesia, Papilledema, Cognitive impairment, Memory impairmen...	ORPHA:2495
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Ciliary Dyskinesia, Primary, 1	Anosmia, Recurrent bronchitis, Chronic rhinitis, Nasal polyposis	OMIM:244400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:228300
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased sensory nerve conduction velocity, Dementia, Cachexia, Peripheral axonal neuropathy, De...	ORPHA:298
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Hyperactivity, Abnormal aggressive, impulsive or violent ...	ORPHA:3077
Citrullinemia Type Ii	Enuresis, Abnormal eating behavior, Hypoproteinemia, Hyperactivity, Restlessness, Acute hyperammo...	ORPHA:247585
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Self-injurious behavior, Nephrolithiasis, Aggressive behavior, Hyperactivity	OMIM:620023
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior, Imp...	OMIM:620141
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Cranial nerve compression, Paraganglioma...	ORPHA:276621
Moynahan Syndrome	Cachexia	ORPHA:2574
8Q21.11 Microdeletion Syndrome	Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose	ORPHA:284160
Hirschsprung Disease	Failure to thrive in infancy, Aganglionic megacolon, Weight loss	ORPHA:388
Intellectual Developmental Disorder, Autosomal Recessive 38	Self-mutilation, Aggressive behavior, Hyperactivity	OMIM:615516
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Dystonia	ORPHA:702
Congenital Tufting Enteropathy	Choanal atresia, Irritability, Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Trigeminal Neuralgia	Cranial nerve compression, Allodynia, Peripheral demyelination, Episodic paroxysmal anxiety	ORPHA:221091
Huntington Disease-Like 1	Cognitive impairment, Dementia, Memory impairment, Weight loss	ORPHA:157941
Adult Idiopathic Neutropenia	Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Pfapa Syndrome	Recurrent pharyngitis, Weight loss	ORPHA:42642
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Anxiety, Reduction of neutrophil motility	OMIM:266265
Hodgkin Lymphoma	Weight loss	ORPHA:98293
Graves Disease, Susceptibility To, 1	Irritability, Weight loss	OMIM:275000
Gm1 Gangliosidosis	Broad nasal tip, Depressed nasal bridge, Abnormal retinal vascular morphology, Cognitive impairme...	ORPHA:354
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Immunodeficiency 14B, Autosomal Recessive	Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis	OMIM:619281
X-Linked Creatine Transporter Deficiency	Self-mutilation, Cachexia, Aganglionic megacolon, Athetosis, Dystonia	ORPHA:52503
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Cachexia	ORPHA:1389
Mcdonough Syndrome	Prominent nose, Underdeveloped nasal alae, Cachexia	ORPHA:2471
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss	OMIM:613239
Isolated Follicle Stimulating Hormone Deficiency	Anosmia	ORPHA:52901
Infantile Krabbe Disease	Psychomotor deterioration, Progressive neurologic deterioration, Decreased nerve conduction veloc...	ORPHA:206436
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad nasal tip, Anxiety, Underdeveloped nasal alae, Anteverted nares, Exaggerated startle respon...	ORPHA:438216
Rhabdoid Tumor	Irritability, Weight loss	ORPHA:69077
Relapsing Fever	Acute kidney injury, Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopeni...	ORPHA:91547
X-Linked Adrenoleukodystrophy	Hyperactivity, Neurogenic bladder, Disinhibition, Cognitive impairment, Attention deficit hyperac...	ORPHA:43
Wilson Disease	Limb dystonia, Hand tremor, Dementia, Decreased nerve conduction velocity, Hyposmia, Tremor, Dyst...	OMIM:277900
Fatal Familial Insomnia	Dementia, Abnormal autonomic nervous system physiology, Weight loss	OMIM:600072
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Flynn-Aird Syndrome	Rod-cone dystrophy, Dementia, Cachexia	ORPHA:2047
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa...	OMIM:608203
Focal Myositis	Weight loss	ORPHA:48918
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic s...	OMIM:619644
Juvenile Amyotrophic Lateral Sclerosis	Retrocollis, Axial dystonia, Cognitive impairment, Cachexia, Head titubation, Oromandibular dysto...	ORPHA:300605
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Apathy, Dystonia	OMIM:272750
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Prominent nasal bridge, Failure to thrive in infancy, Cachexia, Anteverted nares, Bulbous nose, P...	OMIM:616801
Stiff-Person Syndrome	Agoraphobia, Anxiety, Opisthotonus, Exaggerated startle response	OMIM:184850
Moebius Syndrome	Facial palsy, Abnormality of the sense of smell	ORPHA:570
Glossopharyngeal Neuralgia	Anxiety, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Schwannoma, Weigh...	ORPHA:221098
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Herpes Simplex Virus Encephalitis	Leukocytosis, Alcoholism, Elevated circulating C-reactive protein concentration, Neutrophilia, Hy...	ORPHA:1930
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Prominent nasal bridge, Conspicuously happy disposition, Cachexia, Anteverted nares, Enlarged nar...	ORPHA:371364
Bone Dysplasia, Lethal Holmgren Type	Anteverted nares, Depressed nasal ridge, Weight loss, Failure to thrive	ORPHA:1842
Hereditary Pheochromocytoma-Paraganglioma	Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Cranial nerve compression, Paraganglioma...	ORPHA:29072
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Follicular Lymphoma	Weight loss	ORPHA:545
Polyarteritis Nodosa	Sensory axonal neuropathy, Polyneuritis, Weight loss	ORPHA:767
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge, Retinal dystrophy	ORPHA:251066
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia, Anxiety	OMIM:619718
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Waardenburg Syndrome, Type 2E	Anosmia, Ocular albinism, Hypopigmentation of the fundus	OMIM:611584
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anosmia, Single naris, Hyposmia, Absent nares	ORPHA:2250
Pleural Mesothelioma	Weight loss	ORPHA:50251
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Hypouri...	ORPHA:760
Benign Schwannoma	Abnormality of the twelfth cranial nerve, Abnormal cranial nerve morphology, Vestibular schwannom...	ORPHA:252164
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Depressed nasal bridge, Anteverted nares	OMIM:617301
Developmental And Epileptic Encephalopathy 49	Prominent nose, Exaggerated startle response, Optic atrophy, Anxiety	OMIM:617281
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Hyperactivity, Progressive neurologic deterioration, Aggressi...	OMIM:252920
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Ring Chromosome 10 Syndrome	Wide nasal bridge, Cachexia, Aganglionic megacolon	ORPHA:1438
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Convex nasal ridge, Weight loss	ORPHA:1979
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cognitive impairment, Short nose, Failure to thrive, Exaggerated startle response, Optic atrophy	OMIM:617527
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Urinary hesitancy, Urinary incontinence, Urinary urgency, Nocturia, Neonatal hyper...	OMIM:609727
Aicardi-Goutieres Syndrome 9	Self-mutilation, Irritability, Failure to thrive, Optic atrophy, Chorioretinal atrophy, Dystonia,...	OMIM:619487
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Kaposi Sarcoma	Abnormal retinal morphology, Weight loss	ORPHA:33276
Holocarboxylase Synthetase Deficiency	Irritability, Weight loss	ORPHA:79242
Renpenning Syndrome	Prominent nose, Broad columella, Cachexia	ORPHA:3242
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Dystonia, Cachexia, Facial diplegia	OMIM:618186
Wilson Disease	Weight loss, Aggressive behavior, Failure to thrive, Increased body weight	ORPHA:905
Takayasu Arteritis	Retinopathy, Weight loss	ORPHA:3287
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Amoebiasis Due To Free-Living Amoebae	Facial palsy, Hyposmia, Irritability	ORPHA:68
Histidinemia	Hyperhistidinemia, Hyperactivity, Histidinuria	ORPHA:2157
Waardenburg Syndrome, Type 4C	Anosmia, Aganglionic megacolon	OMIM:613266
Deafness-Lymphedema-Leukemia Syndrome	Abnormal optic nerve morphology, Weight loss	ORPHA:3226
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Tay-Sachs Disease	Anxiety, Memory impairment, Cherry red spot of the macula, Tremor, Exaggerated startle response, ...	ORPHA:845
Tetrasomy 12P	Short nose, Cachexia, Anteverted nares	ORPHA:884
Leishmaniasis	Rhinitis, Weight loss	ORPHA:507
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain...	ORPHA:54251
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
Plaa-Associated Neurodevelopmental Disorder	Short nose, Failure to thrive, Exaggerated startle response, Optic atrophy, Dystonia	ORPHA:521426
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Dementia, Cachexia, Allodynia, Weight loss	OMIM:603041
Cap Polyposis	Weight loss	ORPHA:160148
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia	ORPHA:1933
Bullous Pemphigoid	Weight loss	ORPHA:703
Sandhoff Disease	Cherry red spot of the macula, Exaggerated startle response, Orthostatic hypotension, Progressive...	OMIM:268800
Osteosarcoma	Weight loss	ORPHA:668
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Staphylococcal Necrotizing Pneumonia	Leukocytosis, Leukopenia, Alcoholism, Elevated circulating C-reactive protein concentration, Neut...	ORPHA:36238
Asparagine Synthetase Deficiency	Exaggerated startle response, Failure to thrive	OMIM:615574
Thymic Carcinoma	Weight loss	ORPHA:99868
Rett Syndrome	Motor deterioration, Cachexia, Dystonia	OMIM:312750
Choreoacanthocytosis	Mental deterioration, Laryngeal dystonia, Bradyphrenia, Head-banging, Emotional lability, Limb dy...	ORPHA:2388
Immunodeficiency 27A	Weight loss	OMIM:209950
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Neuroblastoma, Susceptibility To, 1	Ganglioneuroma, Horner syndrome, Weight loss, Failure to thrive	OMIM:256700
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia, Obesity	OMIM:618653
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Adrenocortical Carcinoma	Anxiety, Irritability, Panic attack, Increased body weight, Weight loss	ORPHA:1501
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
Thymic Neuroendocrine Tumor	Neuroendocrine neoplasm, Pancreatic islet cell adenoma, Carcinoid tumor, Weight loss	ORPHA:97289
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Wide nasal bridge	ORPHA:2774
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono...	ORPHA:98849
Charge Syndrome	Depressed nasal bridge, Abnormal cranial nerve morphology, Choanal atresia, Facial palsy, Chorior...	ORPHA:138
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Leukocytosis, Elevated circulating C-reactive protein c...	ORPHA:829
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Tremor, Prominent nose, Aggressive behavior, Obesity	ORPHA:85293
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Eosinophilic Gastroenteritis	Allergic rhinitis, Weight loss	ORPHA:2070
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
X-Linked Agammaglobulinemia	Weight loss, Failure to thrive	ORPHA:47
Occipital Horn Syndrome	Abnormality of the sense of smell	ORPHA:198
Chronic Beryllium Disease	Weight loss	ORPHA:133
Argininemia	Oroticaciduria, Hyperammonemia, Hyperactivity, Diaminoaciduria, Irritability, Hyperargininemia	OMIM:207800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Secondary Short Bowel Syndrome	Aganglionic megacolon, Weight loss, Failure to thrive	ORPHA:95427
Xfe Progeroid Syndrome	Cachexia, Failure to thrive, Convex nasal ridge, Attenuation of retinal blood vessels, Optic atrophy	OMIM:610965
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Pemphigus Vulgaris	Weight loss	ORPHA:704
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	Exaggerated startle response, Optic atrophy, Retinal detachment, Retinal dysplasia	OMIM:253800
Majeed Syndrome	Cachexia, Weight loss, Failure to thrive	ORPHA:77297
Fryns-Smeets-Thiry Syndrome	Prominent nasal bridge, Narrow nasal bridge, Cachexia	ORPHA:2058
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Emotional lability, Sensory axonal neuropathy, Cognitive impairment, Retinal pigment epithelial m...	OMIM:607459
Aredyld Syndrome	Cachexia, Abnormal nasal morphology	ORPHA:1133
Nephroblastoma	Weight loss	ORPHA:654
Felty Syndrome	Rhinitis, Recurrent pharyngitis, Weight loss	ORPHA:47612
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Obesity, Short nose, Wide nasal bridge, Weight loss	ORPHA:251071
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
Giant Cell Arteritis	Recurrent pharyngitis, Optic atrophy, Epistaxis, Weight loss	ORPHA:397
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Increased prop...	OMIM:617099
Leopard Syndrome 1	Hyposmia, Depressed nasal ridge	OMIM:151100
19Q13.11 Microdeletion Syndrome	Underdeveloped nasal alae, Broad columella, Cachexia, Failure to thrive	ORPHA:217346
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Gm1 Gangliosidosis Type 1	Broad nasal tip, Cherry red spot of the macula, Exaggerated startle response, Depressed nasal bri...	ORPHA:79255
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Yao Syndrome	Weight loss	OMIM:617321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Lynch Syndrome	Anxiety, Memory impairment, Irritability, Weight loss	ORPHA:144
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Short Syndrome	Wide nasal bridge, Weight loss	ORPHA:3163
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
Symptomatic Form Of Hfe-Related Hemochromatosis	Apathy, Weight loss	ORPHA:465508
Acrodermatitis Enteropathica	Emotional lability, Weight loss, Failure to thrive	ORPHA:37
Rheumatoid Arthritis	Weight loss	OMIM:180300
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Familial Colorectal Cancer Type X	Anxiety, Memory impairment, Irritability, Weight loss	ORPHA:440437
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Celiac Disease, Susceptibility To, 1	Anxiety, Weight loss, Failure to thrive	OMIM:212750
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Loeffler Endocarditis	Weight loss	ORPHA:75566
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Anteverted nares, Midline defect of the nose, Cachexia, Abnormality of retinal pigmentation	ORPHA:1969
Seckel Syndrome	Cognitive impairment, Cachexia, Convex nasal ridge	ORPHA:808
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Wolman Disease	Cachexia	ORPHA:75233
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Acute Promyelocytic Leukemia	Epistaxis, Weight loss	ORPHA:520
Beta-Ketothiolase Deficiency	Apathy, Weight loss	ORPHA:134
Ménétrier Disease	Weight loss	ORPHA:2494
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess	OMIM:612852
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Poems Syndrome	Papilledema, Weight loss	ORPHA:2905
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Reduced renal corticomedullary differentiation, Hyperactivity	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	Neuroendocrine neoplasm, Carcinoid tumor, Weight loss	ORPHA:100085
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Optic atrophy, Cachexia	ORPHA:220295
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Polymyositis	Weight loss	ORPHA:732
Cockayne Syndrome	Retinal hemorrhage, Retinal atrophy, Cognitive impairment, Pigmentary retinopathy, Decreased nerv...	ORPHA:191
Malignant Atrophic Papulosis	Abnormal optic nerve morphology, Weight loss	ORPHA:679
Hermansky-Pudlak Syndrome	Abnormal optic nerve morphology, Epistaxis, Ocular albinism, Weight loss	ORPHA:79430
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Weight loss	ORPHA:183
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:3243
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Familial Mediterranean Fever	Leukocytosis, Stage 5 chronic kidney disease, Elevated circulating amyloid A, Nephrotic syndrome,...	OMIM:249100
Al Amyloidosis	Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto...	ORPHA:85443
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Granulomatosis With Polyangiitis	Concave nasal ridge, Retinal hemorrhage, Weight loss	OMIM:608710
Pneumocystosis	Weight loss	ORPHA:723
Neuroendocrine Tumor Of Stomach	Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100075
Refractory Celiac Disease	Weight loss	ORPHA:398063
Charge Syndrome	Self-mutilation, Choanal atresia, Facial palsy, Anosmia, Retinal coloboma	OMIM:214800
Lacrimoauriculodentodigital Syndrome	Anosmia, Choanal atresia	ORPHA:2363
Imerslund-Gräsbeck Syndrome	Weight loss, Failure to thrive	ORPHA:35858
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Bannayan-Riley-Ruvalcaba Syndrome	Short nose, Cachexia, Anteverted nares, Wide nose, Abnormal optic nerve morphology	ORPHA:109
Polycythemia Vera	Epistaxis, Weight loss	ORPHA:729
3-Hydroxy-3-Methylglutaric Aciduria	Apathy, Weight loss	ORPHA:20
Lysosomal Acid Lipase Deficiency	Cognitive impairment, Cachexia, Failure to thrive, Psychomotor deterioration, Weight loss	ORPHA:275761
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity	ORPHA:813
Renal Nutcracker Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension, Weight loss	ORPHA:71273
Lymphoid Interstitial Pneumonia	Weight loss, Failure to thrive	ORPHA:79128
Simple Cryoglobulinemia	Progressive neurologic deterioration, Weight loss	ORPHA:91139
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Weight loss, Failure to thrive	ORPHA:199299
Trisomy 18	Cognitive impairment, Short nose, Choanal atresia, Cachexia, Abnormality of retinal pigmentation	ORPHA:3380
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Familial Glucocorticoid Deficiency	Weight loss, Failure to thrive	ORPHA:361
Thyrotoxic Periodic Paralysis	Tremor, Abnormality of peripheral nerve conduction, Weight loss, Obesity	ORPHA:79102
Osteootohepatoenteric Syndrome	Weight loss, Failure to thrive	OMIM:619377
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Primary Myelofibrosis	Cachexia	ORPHA:824
Isolated Permanent Neonatal Diabetes Mellitus	Retinopathy, Peripheral axonal neuropathy, Weight loss, Failure to thrive	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, Facial palsy, Weight loss	OMIM:164310
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Norrie Disease	Abnormal retinal vascular morphology, Anxiety, Retinal detachment, Cachexia, Irritability, Failur...	ORPHA:649
Behçet Disease	Optic neuritis, Irritability, Memory impairment, Retrobulbar optic neuritis, Retinopathy, Weight ...	ORPHA:117
Thymoma	Weight loss	ORPHA:99867
Cystic Echinococcosis	Weight loss	ORPHA:400
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Nijmegen Breakage Syndrome	Prominent nasal bridge, Cachexia, Mental deterioration, Convex nasal ridge, Prominent nose, Depre...	ORPHA:647
Cushing Syndrome Due To Ectopic Acth Secretion	Emotional lability, Pancreatic endocrine tumor, Suicidal ideation, Small intestine carcinoid, Tru...	ORPHA:99889
Mucolipidosis Type Ii	Cognitive impairment, Depressed nasal bridge, 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
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Irritability	OMIM:618367
Aicardi-Goutieres Syndrome 7	Dystonia, Irritability, Weight loss	OMIM:615846
Acute Adrenal Insufficiency	Orthostatic hypotension, Weight loss, Failure to thrive	ORPHA:95409
Schwartz-Jampel Syndrome	Prominent nasal bridge, Blepharospasm, Anxiety, Cachexia, Irritability, Decreased body weight	ORPHA:800
Insulin-Resistance Syndrome Type B	Decreased body weight, Abnormality of body weight, Weight loss, Increased body weight	ORPHA:2298
Whipple Disease	Cachexia	ORPHA:3452
African Trypanosomiasis	Optic neuritis, Apathy, Papilledema, Anxiety, Irritability, Tremor, Aggressive behavior, Choreoat...	ORPHA:3385
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive	ORPHA:1018
Cystinosis, Nephropathic	Failure to thrive in infancy, Pigmentary retinopathy, Retinal pigment epithelial mottling, Progre...	OMIM:219800
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Pancreatoblastoma	Weight loss	ORPHA:677
Granulomatosis With Polyangiitis	Retinopathy, Epistaxis, Abnormality of the nose, Weight loss	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
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
Camurati-Engelmann Disease	Slender build, Cachexia, Facial palsy, Optic nerve compression, Optic atrophy	ORPHA:1328
Pyomyositis	Weight loss	ORPHA:764
Zollinger-Ellison Syndrome	Neuroendocrine neoplasm, Glucagonoma, Weight loss	ORPHA:913
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Pheochromocytoma, Insulinoma, Pulmonary carcinoid tumor, Cranial nerv...	ORPHA:652
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Tropical Pancreatitis	Weight loss	ORPHA:103918
Q Fever	Weight loss	ORPHA:781
Grfoma	Pheochromocytoma, Intestinal carcinoid, Weight loss	ORPHA:97261
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Abnormality...	ORPHA:91500
Caroli Disease	Weight loss	ORPHA:53035
Hepatocellular Carcinoma	Emotional lability, Weight loss	ORPHA:88673
Microsporidiosis	Rhinitis, Cachexia, 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
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Chorioretinitis, Weight loss	OMIM:181000
Alveolar Echinococcosis	Weight loss	ORPHA:284
Addison Disease	Orthostatic hypotension, Weight loss, Failure to thrive	ORPHA:85138
Brucellosis	Small for gestational age, Failure to thrive, Abnormality of the peripheral nervous system, Chori...	ORPHA:1304
Yellow Fever	Acute kidney injury, Leukocytosis, Renal insufficiency, Elevated circulating creatine kinase conc...	ORPHA:99829
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Fanconi Anemia	Choanal atresia, Aganglionic megacolon, Weight loss	ORPHA:84
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Stickler Syndrome	Slender build, Short nose, Retinal detachment, Cachexia, Anteverted nares, Abnormal vitreous humo...	ORPHA:828
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss	ORPHA:91347
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Postinfectious Vasculitis	Retinal vasculitis, Abnormality of the peripheral nervous system, Weight loss	ORPHA:48435
Multiple Myeloma	Weight loss	ORPHA:29073
Immunodeficiency 31C	Weight loss	OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Rat-Bite Fever	Weight loss	ORPHA:31205
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive	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, Cachexia, Spontaneous, recurrent epistaxis	ORPHA:2072
Somatostatinoma	Weight loss	ORPHA:97283
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Broad nasal tip, Short nose, Anteverted nares, Exaggerated startle response, Wide nasa...	OMIM:619522
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Narrow nasal tip, Convex nasal ridge, Severe failure to thrive, Na...	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	Retinal detachment, Slender build, Cachexia	ORPHA:558
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Proteus Syndrome	Cachexia, Abnormality of retinal pigmentation, Anteverted nares, Retinal nonattachment, Chorioret...	ORPHA:744
Dermatomyositis	Weight loss	ORPHA:221
Sarcoidosis	Facial palsy, Abnormal nasal mucosa morphology, Weight loss	ORPHA:797
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive	ORPHA:90794
Kikuchi-Fujimoto Disease

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Gene: Nav2 MGI:2183691

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Eye Morphology

Human diseases caused by Nav2 mutations