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
small kidney Nav2em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Nav2em1(IMPC)Tcp HOM Early adult 5.96×10-08
increased neutrophil cell number Nav2em1(IMPC)Tcp HOM Early adult 2.44×10-05
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
hyperactivity Nav2em1(IMPC)Tcp HOM   Early adult 6.89×10-07

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.

Gross Pathology and Tissue Collection


8 Images

Eye Morphology

Images Ophthalmoscopy

74 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Huntington Disease-Like 2
Inertia, Weight loss, Apathy, Dementia, Dystonia, Action tremor, Subcortical dementia, Anxiety, I... OMIM:606438
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Hyperlysinuria, Cognitive impairment, Anemia OMIM:238700
Schizophrenia 15
Hyperactivity OMIM:613950
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Huntington Disease
Aggressive behavior, Memory impairment, Weight loss, Suicidal ideation, Anxiety, Apathy, Irritabi... ORPHA:399
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Huntington Disease-Like 2
Dementia, Dystonia, Memory impairment, Weight loss ORPHA:98934
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Intention tremor, Hyposmia OMIM:613724
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Bardet-Biedl Syndrome 19
Rod-cone dystrophy, Obesity, Hyposmia OMIM:615996
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Restlessness, Hyp... OMIM:605899
Bardet-Biedl Syndrome 17
Rod-cone dystrophy, Cognitive impairment, Hyposmia, Cone/cone-rod dystrophy, Retinal degeneration... OMIM:615994
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Hyperostosis Cranialis Interna
Optic atrophy, Anosmia, Hyposmia, Facial palsy OMIM:144755
Body Mass Index Quantitative Trait Locus 19
Obesity, Anosmia, Hyposmia OMIM:617885
Pulmonary Blastoma
Weight loss ORPHA:64741
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Emotional lability OMIM:617028
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Aggressive behavior, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Anosmia, Hyposmia OMIM:610628
Young-Onset Parkinson Disease
Cognitive impairment, Hyposmia, Frontal lobe dementia, Abnormal autonomic nervous system physiolo... ORPHA:2828
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Hartnup Disorder
Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity disorder, Emotional la... OMIM:234500
Parkinson Disease 8, Autosomal Dominant
Dementia, Resting tremor, Hyposmia OMIM:607060
Weight loss ORPHA:3389
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Musk, Inability To Smell
Anosmia OMIM:254150
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hyposmia, Resting tremor, Apat... ORPHA:411602
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Anosmia OMIM:614879
Perry Syndrome
Tremor, Apathy, Dementia, Weight loss ORPHA:178509
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Bifid nose, Hyposmia OMIM:614838
Kufor-Rakeb Syndrome
Aggressive behavior, Hyposmia, Torticollis, Dementia, Tremor, Anosmia, Dystonia OMIM:606693
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Aural Atresia, Congenital
Hyposmia OMIM:607842
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Anosmia, Axonal dege... OMIM:601152
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Spinocerebellar Ataxia 48
Anxiety, Cachexia, Tremor, Mental deterioration, Irritability, Dystonia OMIM:618093
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nasal septum, Anosmia, Short nose OMIM:302950
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Abnormal cranial nerve morphology, Anosmia ORPHA:2057
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Increa... OMIM:261600
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity, Anosmia, Hyposmia OMIM:243000
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Morning glory anomaly, Abnormal fifth cranial nerve morphology... ORPHA:91412
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Diencephalic Syndrome
Cachexia, Decreased body weight, Optic atrophy ORPHA:1672
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Dementia, Weight loss OMIM:605543
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Agitation ORPHA:100973
Riboflavin Transporter Deficiency
Aggressive behavior, Abnormal autonomic nervous system physiology, Cachexia, Tremor, Abnormal cra... ORPHA:97229
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Anosmia, Wide nasal bridge OMIM:210745
Mulibrey Nanism
Cachexia, Wide nasal bridge ORPHA:2576
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Increased urinary disaccharide excretion OMIM:248510
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Cognitive impairment, Weight loss, Optic disc pallor, Opisthotonus, Generaliz... ORPHA:216866
Johnson Neuroectodermal Syndrome
Choanal atresia, Failure to thrive, Anosmia, Bulbous nose, Facial palsy ORPHA:2316
Idiopathic Achalasia
Weight loss ORPHA:930
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Oromandibular Dystonia
Blepharospasm, Weight loss, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Gen... ORPHA:93958
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Failure to thrive, Prolonged brainstem auditory evok... OMIM:616881
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Progressive neurologic deterioration, Weight loss OMIM:612075
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, ... OMIM:609541
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100083
Juvenile Huntington Disease
Dystonia, Irritability, Dementia, Weight loss ORPHA:248111
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Tay-Sachs Disease
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia, Cherry red spot of the... OMIM:272800
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... OMIM:619827
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Mental deterioration OMIM:615924
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Hyposmia, Choanal atresia OMIM:147950
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Optic atrop... ORPHA:320406
Hereditary Central Diabetes Insipidus
Irritability, Weight loss ORPHA:30925
Morm Syndrome
Hyperactivity, Aggressive behavior, Micropenis ORPHA:75858
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy, Anosmia OMIM:266500
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Increased level of gamma-aminobutyri... OMIM:271980
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting, Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hyp... OMIM:618314
Septo-Optic Dysplasia Spectrum
Obesity, Anosmia, Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Anosmia, Hyposmia OMIM:308700
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Chronic Hiccup
Weight loss ORPHA:396
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Isaacs Syndrome
Weight loss ORPHA:84142
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Eunuchoid habitus OMIM:308750
Non-Functioning Paraganglioma
Cranial nerve compression, Weight loss, Paraganglioma of head and neck, Tremor, Hypertensive reti... ORPHA:94080
Solitary Median Maxillary Central Incisor
Choanal atresia, Midnasal stenosis, Anosmia, Pyriform aperture stenosis, Abnormal nasopharynx mor... OMIM:147250
Perry Syndrome
Frontotemporal dementia, Weight loss, Suicidal ideation, Apathy, Tremor, Anxiety, Dystonia OMIM:168605
Johnson Neuroectodermal Syndrome
Choanal stenosis, Anosmia, Facial palsy OMIM:147770
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Anosmia, Short nose ORPHA:1295
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge, Optic atrophy, Anxiety ORPHA:442
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety ORPHA:3198
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Vitreous floaters, Weight loss ORPHA:85447
Refsum Disease
Retinopathy, Anosmia, Abnormality of retinal pigmentation ORPHA:773
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Central Diabetes Insipidus
Failure to thrive, Weight loss, Anxiety ORPHA:178029
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Absent nares, Aplasia/Hypoplasia involving the nose, Retinopathy, Cognitive impairment, Depressed... ORPHA:2162
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb tremor, Limb dystonia, Torticollis, Choreoathet... OMIM:608643
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior ORPHA:101039
Abnormality of the sense of smell ORPHA:2189
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Postural tremor, Leber optic atrophy, ... OMIM:535000
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Christianson Syndrome
Conspicuously happy disposition, Cachexia, Dystonia, Abnormality of the nose ORPHA:85278
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Exaggerated startle response, Irritability, Optic nerve hypoplasia OMIM:617864
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Motor deterioration, Dementia, Irritability, Pigmentary retinopathy, Progressive psy... ORPHA:3208
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Gerstmann-Straussler Disease
Aggressive behavior, Weight loss, Emotional lability, Dementia, Tremor, Memory impairment OMIM:137440
Superficial Siderosis
Cognitive impairment, Dementia, Partial anosmia, Anosmia, Abnormality of the brachial nerve plexu... ORPHA:247245
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Retinoschisis, Chorioretinal atrophy, Action tremor, Optic neuropathy OMIM:615651
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior OMIM:612716
Kallmann Syndrome
Tremor, Obesity, Anosmia, Hyposmia ORPHA:478
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Cognitive impairment, Papilledema, Facial palsy, Neurofibromas, Emotional lability, Abnormality o... ORPHA:2495
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Decreased motor nerve conduction velocity, Cachexia, Dementia, Decreased sensory ner... ORPHA:298
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis OMIM:244400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Abnormal autonomic nervous system physiology, Torticollis, Aganglionic megacolon, Absent brainste... OMIM:609136
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Impulsivity, Attention deficit hyperactivity disorder, Hydron... OMIM:620141
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose ORPHA:284160
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Moynahan Syndrome
Cachexia ORPHA:2574
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Episodic paroxysmal anxiety, Cranial nerve compression, Weight loss, Pa... ORPHA:276621
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Memory impairment, Irritability, Acute hyperammonemia, Hypopr... ORPHA:247585
Hirschsprung Disease
Aganglionic megacolon, Failure to thrive in infancy, Weight loss ORPHA:388
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-injurious behavior OMIM:620023
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Optic atrophy, Choreoathetosis, Cachexia, Dystonia ORPHA:702
Trigeminal Neuralgia
Allodynia, Episodic paroxysmal anxiety, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Congenital Tufting Enteropathy
Weight loss, Irritability, Failure to thrive, Optic disc coloboma, Choanal atresia ORPHA:92050
Graves Disease, Susceptibility To, 1
Irritability, Weight loss OMIM:275000
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Pfapa Syndrome
Recurrent pharyngitis, Weight loss ORPHA:42642
Hodgkin Lymphoma
Weight loss ORPHA:98293
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Anxiety OMIM:266265
Huntington Disease-Like 1
Cognitive impairment, Memory impairment, Dementia, Weight loss ORPHA:157941
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Gm1 Gangliosidosis
Cognitive impairment, Depressed nasal ridge, Weight loss, Optic atrophy, Failure to thrive, Depre... ORPHA:354
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short nose ORPHA:1389
Mcdonough Syndrome
Underdeveloped nasal alae, Cachexia, Prominent nose ORPHA:2471
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Isolated Follicle Stimulating Hormone Deficiency
Anosmia ORPHA:52901
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss OMIM:613239
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Cachexia, Psychomotor deterioratio... ORPHA:206436
Wilson Disease
Hyposmia, Limb dystonia, Hand tremor, Dementia, Tremor, Decreased nerve conduction velocity, Dyst... OMIM:277900
Rhabdoid Tumor
Irritability, Weight loss ORPHA:69077
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Acute kidney injury, Neutrophilia, Hematuria, Elev... ORPHA:91547
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Cognitive impairment, Urinary bladder sphincter dysfunction, ... ORPHA:43
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Underdeveloped nasal alae, Exaggerated startle response, Wide nasal bridge, Broad nasal tip, Ante... ORPHA:438216
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Dementia, Weight loss OMIM:600072
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Flynn-Aird Syndrome
Rod-cone dystrophy, Cachexia, Dementia ORPHA:2047
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Focal Myositis
Weight loss ORPHA:48918
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... OMIM:619644
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Cognitive impairment, Opisthotonus, Cachexia, Axial dystonia, Head titubation, Oroma... ORPHA:300605
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Apathy, Dystonia, Dementia OMIM:272750
Moebius Syndrome
Abnormality of the sense of smell, Facial palsy ORPHA:570
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Prominent nose, Cachexia, Anteverted nares, Bulbous nose, Prominent... OMIM:616801
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Weight loss, Schwannoma, A... ORPHA:221098
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety OMIM:184850
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Herpes Simplex Virus Encephalitis
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, ... ORPHA:1930
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Failure to thrive, Depressed nasal ridge, Anteverted nares ORPHA:1842
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Episodic paroxysmal anxiety, Cranial nerve compression, Weight loss, Re... ORPHA:29072
Mast Cell Sarcoma
Weight loss ORPHA:66661
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Follicular Lymphoma
Weight loss ORPHA:545
Polyarteritis Nodosa
Polyneuritis, Sensory axonal neuropathy, Weight loss ORPHA:767
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Enlarged naris, Self-injurious behavior, Wide nasal bridge, Cachexia, Severe failure to thrive, A... ORPHA:371364
8P11.2 Deletion Syndrome
Retinal dystrophy, Depressed nasal bridge, Anosmia ORPHA:251066
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Anxiety OMIM:619718
Waardenburg Syndrome, Type 2E
Hypopigmentation of the fundus, Anosmia, Ocular albinism OMIM:611584
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Single naris, Anosmia, Hyposmia ORPHA:2250
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... ORPHA:760
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Cachexia, Dystonia OMIM:618186
Benign Schwannoma
Allodynia, Scleral schwannoma, Nasal polyposis, Schwannoma, Abnormality of the twelfth cranial ne... ORPHA:252164
Pleural Mesothelioma
Weight loss ORPHA:50251
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration, Splenomegaly, Heparan s... OMIM:252920
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response, Depressed nasal bridge, Anteverted nares OMIM:617301
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Wide nasal bridge ORPHA:1438
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Convex nasal ridge, Weight loss ORPHA:1979
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Hyperactivity, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia, Urin... OMIM:609727
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Optic atrophy, Short nose, Failure to thrive OMIM:617527
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Kaposi Sarcoma
Abnormal retinal morphology, Weight loss ORPHA:33276
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Holocarboxylase Synthetase Deficiency
Irritability, Weight loss ORPHA:79242
Aicardi-Goutieres Syndrome 9
Weight loss, Optic atrophy, Failure to thrive, Chorioretinal atrophy, Irritability, Dystonia, Sel... OMIM:619487
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Wilson Disease
Failure to thrive, Aggressive behavior, Weight loss, Increased body weight ORPHA:905
Renpenning Syndrome
Broad columella, Cachexia, Prominent nose ORPHA:3242
Takayasu Arteritis
Retinopathy, Weight loss ORPHA:3287
Amoebiasis Due To Free-Living Amoebae
Irritability, Hyposmia, Facial palsy ORPHA:68
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Anosmia OMIM:613266
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Deafness-Lymphedema-Leukemia Syndrome
Abnormal optic nerve morphology, Weight loss ORPHA:3226
Tetrasomy 12P
Cachexia, Anteverted nares, Short nose ORPHA:884
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Decreased nerve conduction velocity ORPHA:1933
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C-reactive protein conce... ORPHA:54251
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Rhinitis, Weight loss ORPHA:507
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Weight loss ORPHA:69078
Cap Polyposis
Weight loss ORPHA:160148
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Allodynia, Cachexia, Dementia, Slender build OMIM:603041
Tay-Sachs Disease
Exaggerated startle response, Optic atrophy, Tremor, Dystonia, Laryngeal dystonia, Anxiety, Memor... ORPHA:845
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... ORPHA:330001
Weight loss ORPHA:668
Bullous Pemphigoid
Weight loss ORPHA:703
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Short nose, Failure to thrive, Dystonia ORPHA:521426
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Cherry red spot of the macula, Progressive... OMIM:268800
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Al... ORPHA:36238
Thymic Carcinoma
Weight loss ORPHA:99868
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cherry red spot of the macula ORPHA:309155
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Rett Syndrome
Motor deterioration, Cachexia, Dystonia OMIM:312750
Hair-pulling, Blepharospasm, Limb dystonia, Abnormal autonomic nervous system physiology, Self-mu... ORPHA:2388
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Hyposmia OMIM:618653
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Immunodeficiency 27A
Weight loss OMIM:209950
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Horner syndrome, Ganglioneuroma, Weight loss OMIM:256700
Adrenocortical Carcinoma
Anxiety, Weight loss, Panic attack, Irritability, Increased body weight ORPHA:1501
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Failure to thrive in infancy, Weight loss ORPHA:171876
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Wide nasal bridge ORPHA:2774
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Thymic Neuroendocrine Tumor
Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm, Weight loss ORPHA:97289
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:614204
Medullary Thyroid Carcinoma
Weight loss, Pheochromocytoma ORPHA:1332
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1302
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Charge Syndrome
Optic atrophy, Facial palsy, Depressed nasal bridge, Anosmia, Chorioretinal coloboma, Abnormal cr... ORPHA:138
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reactive protein c... ORPHA:829
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Eosinophilic Gastroenteritis
Weight loss, Allergic rhinitis ORPHA:2070
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, Prominent nose, Cachexia, Tremor, Obesity ORPHA:85293
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Chronic Beryllium Disease
Weight loss ORPHA:133
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Secondary Short Bowel Syndrome
Failure to thrive, Aganglionic megacolon, Weight loss ORPHA:95427
Xfe Progeroid Syndrome
Convex nasal ridge, Optic atrophy, Cachexia, Attenuation of retinal blood vessels, Failure to thrive OMIM:610965
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Aplasia of the nose, Choanal atresia OMIM:603457
Pemphigus Vulgaris
Weight loss ORPHA:704
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hyperactivity, Oroticaciduria, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Irritability OMIM:207800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Retinal dysplasia, Exaggerated startle response, Optic atrophy OMIM:253800
Fryns-Smeets-Thiry Syndrome
Narrow nasal bridge, Cachexia, Prominent nasal bridge ORPHA:2058
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cognitive impairment, Weight loss, Retinal pigment epithelial mottling, Emotional lability, Demen... OMIM:607459
Aredyld Syndrome
Abnormal nasal morphology, Cachexia ORPHA:1133
8P23.1 Microdeletion Syndrome
Weight loss, Wide nasal bridge, Short nose, Obesity, Prominent nasal bridge ORPHA:251071
Felty Syndrome
Rhinitis, Recurrent pharyngitis, Weight loss ORPHA:47612
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Weight loss ORPHA:654
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Giant Cell Arteritis
Epistaxis, Optic atrophy, Recurrent pharyngitis, Weight loss ORPHA:397
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
19Q13.11 Microdeletion Syndrome
Broad columella, Failure to thrive, Cachexia, Underdeveloped nasal alae ORPHA:217346
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Depressed nasal bridge, Broad nasal tip, Dystonia, Cherry red spot ... ORPHA:79255
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Yao Syndrome
Weight loss OMIM:617321
Lynch Syndrome
Irritability, Memory impairment, Weight loss, Anxiety ORPHA:144
Short Syndrome
Weight loss, Wide nasal bridge ORPHA:3163
Symptomatic Form Of Hemochromatosis Type 1
Apathy, Weight loss ORPHA:465508
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Rheumatoid Arthritis
Weight loss OMIM:180300
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Familial Colorectal Cancer Type X
Irritability, Memory impairment, Weight loss, Anxiety ORPHA:440437
Acrodermatitis Enteropathica
Emotional lability, Failure to thrive, Weight loss ORPHA:37
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Loeffler Endocarditis
Weight loss ORPHA:75566
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss, Anxiety OMIM:212750
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Cachexia, Anteverted nares, Midline defect of the nose ORPHA:1969
Seckel Syndrome
Cachexia, Convex nasal ridge, Cognitive impairment ORPHA:808
Wolman Disease
Cachexia ORPHA:75233
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Igg4-Related Aortitis
Weight loss ORPHA:449400
Ménétrier Disease
Weight loss ORPHA:2494
Beta-Ketothiolase Deficiency
Apathy, Weight loss ORPHA:134
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abscess OMIM:612852
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Acute Promyelocytic Leukemia
Epistaxis, Weight loss ORPHA:520
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Poems Syndrome
Papilledema, Weight loss ORPHA:2905
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperactivity, Emotional lability OMIM:620047
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Weight loss ORPHA:97287
Klatskin Tumor
Weight loss ORPHA:99978
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Weight loss ORPHA:370348
Primary Hepatic Neuroendocrine Carcinoma
Carcinoid tumor, Neuroendocrine neoplasm, Weight loss ORPHA:100085
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Retinopathy, Cachexia, Optic atrophy ORPHA:220295
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Weight loss ORPHA:732
Cockayne Syndrome
Pigmentary retinopathy, Retinal hemorrhage, Retinal arteriolar constriction, Convex nasal ridge, ... ORPHA:191
Malignant Atrophic Papulosis
Abnormal optic nerve morphology, Weight loss ORPHA:679
Hermansky-Pudlak Syndrome
Epistaxis, Abnormal optic nerve morphology, Weight loss, Ocular albinism ORPHA:79430
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Elevat... ORPHA:3243
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Familial Mediterranean Fever
Nephrotic syndrome, Stage 5 chronic kidney disease, Neutrophilia, Elevated circulating C-reactive... OMIM:249100
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Weight loss ORPHA:183
Al Amyloidosis
Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction, Weight loss, Postur... ORPHA:85443
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Granulomatosis With Polyangiitis
Retinal hemorrhage, Concave nasal ridge, Weight loss OMIM:608710
Weight loss ORPHA:723
Charge Syndrome
Retinal coloboma, Choanal atresia, Anosmia, Self-mutilation, Facial palsy OMIM:214800
Neuroendocrine Tumor Of Stomach
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss, Paraganglioma ORPHA:100075
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Refractory Celiac Disease
Weight loss ORPHA:398063
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Cachexia, Short nose, Anteverted nares, Abnormal optic nerve morphology ORPHA:109
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Polycythemia Vera
Epistaxis, Weight loss ORPHA:729
Silver-Russell Syndrome
Cachexia, Failure to thrive in infancy, Obesity ORPHA:813
Lysosomal Acid Lipase Deficiency
Cognitive impairment, Weight loss, Cachexia, Psychomotor deterioration, Failure to thrive ORPHA:275761
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss ORPHA:71273
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Failure to thrive, Weight loss ORPHA:199299
Simple Cryoglobulinemia
Progressive neurologic deterioration, Weight loss ORPHA:91139
3-Hydroxy-3-Methylglutaric Aciduria
Apathy, Weight loss ORPHA:20
Thyrotoxic Periodic Paralysis
Tremor, Obesity, Abnormality of peripheral nerve conduction, Weight loss ORPHA:79102
Trisomy 18
Cognitive impairment, Cachexia, Abnormality of retinal pigmentation, Short nose, Choanal atresia ORPHA:3380
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Budd-Chiari Syndrome
Weight loss ORPHA:131
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Primary Myelofibrosis
Cachexia ORPHA:824
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Retinopathy, Peripheral axonal neuropathy, Weight loss ORPHA:99885
Riddle Syndrome
Emotional lability, Recurrent sinusitis, Weight loss ORPHA:420741
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Oculopharyngodistal Myopathy 1
Tremor, Weight loss, Facial palsy OMIM:164310
Norrie Disease
Self-injurious behavior, Optic atrophy, Cachexia, Abnormal chorioretinal morphology, Failure to t... ORPHA:649
Behçet Disease
Retinopathy, Weight loss, Optic neuritis, Retrobulbar optic neuritis, Irritability, Memory impair... ORPHA:117
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Weight loss ORPHA:99867
Cystic Echinococcosis
Weight loss ORPHA:400
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Nijmegen Breakage Syndrome
Convex nasal ridge, Prominent nose, Cachexia, Depressed nasal bridge, Mental deterioration, Promi... ORPHA:647
Cushing Syndrome Due To Ectopic Acth Secretion
Memory impairment, Suicidal ideation, Weight loss, Anxiety, Pancreatic endocrine tumor, Atypical ... ORPHA:99889
Mucolipidosis Type Ii
Depressed nasal bridge, Cognitive impairment, Weight loss ORPHA:576
Reactive Arthritis
Cognitive impairment, Weight loss ORPHA:29207
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Aicardi-Goutieres Syndrome 7
Irritability, Dystonia, Weight loss OMIM:615846
Acute Adrenal Insufficiency
Orthostatic hypotension, Failure to thrive, Weight loss ORPHA:95409
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight ORPHA:2298
Schwartz-Jampel Syndrome
Blepharospasm, Decreased body weight, Cachexia, Anxiety, Irritability, Prominent nasal bridge ORPHA:800
Whipple Disease
Cachexia ORPHA:3452
African Trypanosomiasis
Aggressive behavior, Weight loss, Papilledema, Apathy, Choreoathetosis, Optic neuritis, Tremor, A... ORPHA:3385
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Cystinosis, Nephropathic
Retinopathy, Weight loss, Retinal pigment epithelial mottling, Progressive neurologic deteriorati... OMIM:219800
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Weight loss ORPHA:677
Granulomatosis With Polyangiitis
Epistaxis, Retinopathy, Weight loss, Abnormality of the nose ORPHA:900
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Small intestine carcinoid, Weight loss ORPHA:100077
Familial Thrombocytosis
Weight loss ORPHA:71493
Camurati-Engelmann Disease
Optic nerve compression, Optic atrophy, Cachexia, Slender build, Facial palsy ORPHA:1328
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal optic nerve morphology, Optic nerve compression, Weight loss ORPHA:79078
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Weight loss ORPHA:764
Zollinger-Ellison Syndrome
Glucagonoma, Neuroendocrine neoplasm, Weight loss ORPHA:913
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Weight loss, Pancreatic endocrine tumor, Intestinal carcinoid, Pheochr... ORPHA:652
Intestinal carcinoid, Weight loss ORPHA:97278
Tropical Pancreatitis
Weight loss ORPHA:103918
Q Fever
Weight loss ORPHA:781
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Macular edema, Weight loss, Choroidal neovascularization, Abnormality of ret... ORPHA:91500
Intestinal carcinoid, Weight loss, Pheochromocytoma ORPHA:97261
Caroli Disease
Weight loss ORPHA:53035
Hepatocellular Carcinoma
Emotional lability, Weight loss ORPHA:88673
Cachexia, Rhinitis, Weight loss ORPHA:2552
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Castleman Disease
Weight loss ORPHA:160
Alveolar Echinococcosis
Weight loss ORPHA:284
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Chorioretinitis, Weight loss OMIM:181000
Addison Disease
Orthostatic hypotension, Failure to thrive, Weight loss ORPHA:85138
Chorioretinitis, Weight loss, Small for gestational age, Failure to thrive, Abnormality of the pe... ORPHA:1304
Yellow Fever
Anuria, Renal insufficiency, Acute kidney injury, Hyperbilirubinemia, Neutrophilia, Elevated circ... ORPHA:99829
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Ganglioneuroma, Weight loss ORPHA:97282
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Fanconi Anemia
Aganglionic megacolon, Weight loss, Choanal atresia ORPHA:84
Erdheim-Chester Disease
Weight loss ORPHA:35687
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Stickler Syndrome
Depressed nasal ridge, Cachexia, Short nose, Depressed nasal bridge, Anteverted nares, Retinal de... ORPHA:828
Tsh-Secreting Pituitary Adenoma
Tremor, Weight loss ORPHA:91347
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Postinfectious Vasculitis
Retinal vasculitis, Weight loss, Abnormality of the peripheral nervous system ORPHA:48435
Immunodeficiency 31C
Weight loss OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Rat-Bite Fever
Weight loss ORPHA:31205
Multiple Myeloma
Weight loss ORPHA:29073
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Malt Lymphoma
Weight loss ORPHA:52417
Juvenile Polyposis Of Infancy
Depressed nasal bridge, Cachexia ORPHA:79076
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Spontaneous, recurrent epistaxis, Cachexia ORPHA:2072
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Wide nasal bridge, Short nose, Broad nasal tip, Anteverted nares, L... OMIM:619522
Weight loss ORPHA:97283
Hutchinson-Gilford Progeria Syndrome
Convex nasal ridge, Narrow nasal ridge, Weight loss, Narrow nasal tip, Severe failure to thrive, ... ORPHA:740
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
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
Slender build, Cachexia, Retinal detachment ORPHA:558
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Proteus Syndrome
Retinal hamartoma, Cachexia, Abnormality of retinal pigmentation, Depressed nasal bridge, Retinal... ORPHA:744
Weight loss ORPHA:221
Facial palsy, Weight loss, Abnormal nasal mucosa morphology ORPHA:797
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921