Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Nav2em1(IMPC)Tcp HOM Early adult 1.38×10-07
abnormal skin morphology Nav2em1(IMPC)Tcp HOM Early adult 0.00
increased neutrophil cell number Nav2em1(IMPC)Tcp HOM Early adult 2.46×10-05
small kidney Nav2em1(IMPC)Tcp HOM Early adult 0.00
hyperactivity Nav2em1(IMPC)Tcp HOM   Early adult 6.89×10-07
decreased exploration in new environment Nav2em1(IMPC)Tcp HOM Early adult 5.96×10-08

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


8 Images

Eye Morphology

Images Ophthalmoscopy

74 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Nav2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
Matching phenotypes Source
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Intestinal carcinoid, Weight loss ORPHA:97278
Tropical Pancreatitis
Weight loss ORPHA:103918
Q Fever
Weight loss ORPHA:781
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
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
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
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
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
Chorioretinitis, Weight loss ORPHA:31204
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
Weight loss ORPHA:221
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