Gene Summary

Name:
neuron navigator 2
Synonyms:
Unc53H2,  Rainb1,  RAINB2,  5330421F07Rik,  HELAD1,  POMFIL2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Nav2em1(IMPC)Tcp HOM Early adult 0.00
hyperactivity Nav2em1(IMPC)Tcp HOM   Early adult 6.89×10-07
increased neutrophil cell number Nav2em1(IMPC)Tcp HOM Early adult 2.44×10-05
decreased exploration in new environment Nav2em1(IMPC)Tcp HOM Early adult 5.64×10-08
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
decreased thigmotaxis Nav2em1(IMPC)Tcp HOM   Early adult 4.70×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Eye Morphology

Images Ophthalmoscopy

74 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 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
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Hyposmia, Intentio... OMIM:613724
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Huntington Disease-Like 2
Subcortical dementia, Depression, Weight loss, Irritability, Dementia, Dystonia, Memory impairmen... OMIM:606438
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Huntington Disease-Like 2
Memory impairment, Dystonia, Dementia, Weight loss ORPHA:98934
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Huntington Disease
Bradyphrenia, Depression, Abnormality of the sense of smell, Weight loss, Irritability, Hostility... ORPHA:399
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... OMIM:605899
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoac... OMIM:234500
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi... OMIM:615994
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... OMIM:239500
Hyperostosis Cranialis Interna
Hyposmia, Optic atrophy, Anosmia, Facial palsy OMIM:144755
Pulmonary Blastoma
Weight loss ORPHA:64741
Bardet-Biedl Syndrome 19
Hyposmia, Rod-cone dystrophy, Obesity, Cone/cone-rod dystrophy OMIM:615996
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Obesity OMIM:617885
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas... OMIM:261600
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia OMIM:602079
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia, Obesity OMIM:610628
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Chronic Hiccup
Depression, Weight loss ORPHA:396
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
Tuberculosis
Weight loss ORPHA:3389
Perry Syndrome
Tremor, Depression, Dementia, Weight loss ORPHA:178509
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Resting tremor, Dementia OMIM:607060
Young-Onset Parkinson Disease
Short attention span, Tremor, Depression, Frontal lobe dementia, Dementia, Abnormal autonomic ner... ORPHA:2828
Hereditary Late-Onset Parkinson Disease
Resting tremor, Mental deterioration, Weight loss, Depression, Dementia, Low frustration toleranc... ORPHA:411602
Kleine-Levin Syndrome
Confusion, Depression, Irritability, Transient global amnesia, Cognitive impairment, Parosmia ORPHA:33543
Musk, Inability To Smell
Anosmia OMIM:254150
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Oromandibular Dystonia
Torticollis, Generalized dystonia, Abnormality of the nose, Weight loss, Blepharospasm, Depressio... ORPHA:93958
Spinocerebellar Ataxia 48
Cachexia, Tremor, Depression, Irritability, Dystonia, Mental deterioration OMIM:618093
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Bifid nose OMIM:614838
Aural Atresia, Congenital
Hyposmia OMIM:607842
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Anosmia, Total anosmia OMIM:614879
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia, Axonal dege... OMIM:601152
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory anomaly, Abnormality of t... ORPHA:91412
Kufor-Rakeb Syndrome
Torticollis, Tremor, Anosmia, Dementia, Dystonia, Hyposmia OMIM:606693
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Pigmentary retinopathy, Cogni... ORPHA:216866
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Abnormal autonomic nervous system physiology, Anosmia, Abnormal nerve conduction velocity OMIM:243000
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Juvenile Huntington Disease
Depression, Weight loss, Irritability, Dementia, Dystonia ORPHA:248111
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Dementia, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Mulibrey Nanism
Wide nasal bridge, Cachexia ORPHA:2576
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge, Frontalis muscle weakness OMIM:210745
Idiopathic Achalasia
Weight loss ORPHA:930
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri... OMIM:616881
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Hypertriglyceridemia OMIM:615924
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... ORPHA:98818
Johnson Neuroectodermal Syndrome
Facial palsy, Choanal atresia, Bulbous nose, Anosmia, Failure to thrive ORPHA:2316
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia OMIM:244200
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ... OMIM:609541
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Failure to thrive, Cachexia, Weight loss OMIM:612075
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100083
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re... ORPHA:320406
Hereditary Central Diabetes Insipidus
Irritability, Weight loss ORPHA:30925
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Choanal atresia OMIM:147950
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Cachexia, Tremor, Abnormality of macular pigmentation, Abnormal ... ORPHA:97229
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced b... ORPHA:100924
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Gorlin Syndrome
Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Refsum Disease, Classic
Rod-cone dystrophy, Anosmia, Retinal degeneration OMIM:266500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Septo-optic dysplasia, Anosmia, Obesity ORPHA:3157
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che... ORPHA:309246
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hyposmia, Anosmia OMIM:308700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Anosmia OMIM:308750
Isaacs Syndrome
Weight loss ORPHA:84142
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Abnormality of the sense of smell OMIM:616113
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Tay-Sachs Disease
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia OMIM:272800
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... OMIM:147250
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Central Diabetes Insipidus
Depression, Failure to thrive, Weight loss ORPHA:178029
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Failure... OMIM:617864
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Attrv30M Amyloidosis
Vitreous floaters, Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Oculogyric crisis, Limb tremor, Nasal congestion, Chor... OMIM:608643
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation, Anosmia ORPHA:773
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Perry Syndrome
Tremor, Frontotemporal dementia, Depression, Weight loss, Dystonia OMIM:168605
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Anteverted nares, Failure to thrive in infancy, Choanal at... ORPHA:2162
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Isolated Succinate-Coq Reductase Deficiency
Progressive psychomotor deterioration, Weight loss, Pigmentary retinopathy, Irritability, Dementi... ORPHA:3208
Gerstmann-Straussler Disease
Tremor, Depression, Memory impairment, Weight loss, Dementia, Emotional lability OMIM:137440
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypertensive retinopathy, Tremor, Cranial nerve compression, Weig... ORPHA:94080
Leber Optic Atrophy
Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb... OMIM:535000
Superficial Siderosis
Partial anosmia, Anosmia, Abnormality of the vestibulocochlear nerve, Abnormality of the brachial... ORPHA:247245
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility OMIM:266265
Trigeminal Neuralgia
Peripheral demyelination, Cranial nerve compression, Allodynia, Depression ORPHA:221091
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Retinoschisis, Action tremor OMIM:615651
Kallmann Syndrome
Hyposmia, Tremor, Anosmia, Obesity ORPHA:478
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Huntington Disease-Like 1
Depression, Weight loss, Dementia, Cognitive impairment, Memory impairment ORPHA:157941
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms ORPHA:391307
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Meningioma
Papilledema, Facial palsy, Neurofibroma, Obesity, Abnormality of the sense of smell, Memory impai... ORPHA:2495
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Decreased numb... ORPHA:298
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Moynahan Syndrome
Cachexia ORPHA:2574
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
8Q21.11 Microdeletion Syndrome
Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell ORPHA:284160
Hirschsprung Disease
Aganglionic megacolon, Failure to thrive in infancy, Weight loss ORPHA:388
Congenital Tufting Enteropathy
Choanal atresia, Optic disc coloboma, Weight loss, Irritability, Failure to thrive ORPHA:92050
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Dystonia ORPHA:702
X-Linked Adrenoleukodystrophy
Hyperactivity, Neurogenic bladder, Aggressive behavior, Dementia, Disinhibition, Attention defici... ORPHA:43
Graves Disease, Susceptibility To, 1
Irritability, Weight loss OMIM:275000
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... ORPHA:449291
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Pfapa Syndrome
Recurrent pharyngitis, Weight loss ORPHA:42642
Christianson Syndrome
Dystonia, Cachexia, Abnormality of the nose ORPHA:85278
Gm1 Gangliosidosis
Generalized dystonia, Depressed nasal bridge, Broad nasal tip, Abnormal retinal vascular morpholo... ORPHA:354
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Cachexia ORPHA:1389
Mcdonough Syndrome
Underdeveloped nasal alae, Cachexia, Prominent nose ORPHA:2471
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Cachexia, Progressive ... ORPHA:206436
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss OMIM:613239
Rhabdoid Tumor
Irritability, Weight loss ORPHA:69077
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Anteverted nares, Underdeveloped nasal alae, ... ORPHA:438216
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Depression, Weight loss, Abnormal glossopharyngeal nerve m... ORPHA:221098
Isolated Follicle Stimulating Hormone Deficiency
Anosmia ORPHA:52901
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Wilson Disease
Dystonia, Decreased nerve conduction velocity, Tremor, Hand tremor, Dementia, Limb dystonia, Hypo... OMIM:277900
Focal Myositis
Weight loss ORPHA:48918
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Fatal Familial Insomnia
Dementia, Abnormal autonomic nervous system physiology, Weight loss OMIM:600072
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Anteverted nares, Failure to thrive in infancy, Cachexia, Prominent nose, Prominent nasal bridge,... OMIM:616801
Flynn-Aird Syndrome
Rod-cone dystrophy, Cachexia, Dementia ORPHA:2047
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Cachexia, Head titubation, Opisthotonus, Arm dystonia, Retrocollis, Dystonia, Oro... ORPHA:300605
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Heparan sulfate excreti... OMIM:252920
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Moebius Syndrome
Facial palsy, Abnormality of the sense of smell ORPHA:570
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevated circulating... OMIM:619644
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Bone Dysplasia, Lethal Holmgren Type
Anteverted nares, Failure to thrive, Depressed nasal ridge, Weight loss ORPHA:1842
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopeni... ORPHA:760
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anorexia ORPHA:1302
Waardenburg Syndrome, Type 2E
Anosmia, Hypopigmentation of the fundus, Ocular albinism OMIM:611584
Follicular Lymphoma
Weight loss ORPHA:545
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Mast Cell Sarcoma
Weight loss ORPHA:66661
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... OMIM:610042
8P11.2 Deletion Syndrome
Anosmia, Retinal dystrophy, Depressed nasal bridge ORPHA:251066
Polyarteritis Nodosa
Polyneuritis, Sensory axonal neuropathy, Weight loss ORPHA:767
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ... ORPHA:276621
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu... ORPHA:36238
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine... OMIM:609727
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Pleural Mesothelioma
Weight loss ORPHA:50251
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hyposmia, Anosmia, Absent nares, Single naris ORPHA:2250
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Optic atrophy, Depression, Memory imp... ORPHA:845
Benign Schwannoma
Nasal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cran... ORPHA:252164
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Anteverted nares, Depressed nasal bridge OMIM:617301
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Wide nasal bridge, Cachexia ORPHA:1438
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Amoebiasis Due To Free-Living Amoebae
Hyposmia, Irritability, Confusion, Facial palsy ORPHA:68
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Convex nasal ridge, Cachexia, Weight loss ORPHA:1979
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Cognitive impairment, Short nose, Failure to thrive OMIM:617527
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Holocarboxylase Synthetase Deficiency
Irritability, Weight loss ORPHA:79242
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica... OMIM:207800
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Prominent nasal tip, ... OMIM:615574
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Facial diplegia, Cachexia, Dystonia OMIM:618186
Renpenning Syndrome
Broad columella, Cachexia, Prominent nose ORPHA:3242
Kaposi Sarcoma
Abnormal retinal morphology, Weight loss ORPHA:33276
Takayasu Arteritis
Retinopathy, Weight loss ORPHA:3287
Wilson Disease
Depression, Failure to thrive, Increased body weight, Weight loss ORPHA:905
X-Linked Creatine Transporter Deficiency
Athetosis, Aganglionic megacolon, Cachexia, Dystonia ORPHA:52503
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Anosmia OMIM:613266
Aicardi-Goutieres Syndrome 9
Optic atrophy, Chorioretinal atrophy, Weight loss, Irritability, Dystonia, Failure to thrive OMIM:619487
Deafness-Lymphedema-Leukemia Syndrome
Abnormal optic nerve morphology, Weight loss ORPHA:3226
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ... ORPHA:29072
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Weight loss, Dementia, Slender build, Allodynia OMIM:603041
Tetrasomy 12P
Short nose, Anteverted nares, Cachexia ORPHA:884
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Anteverted nares, Prominent nasal bridge, Cachexia, Wide nasal bridge, Severe failure to thrive, ... ORPHA:371364
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Leishmaniasis
Rhinitis, Weight loss ORPHA:507
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Liposarcoma
Weight loss ORPHA:69078
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia, Short nose, Failure to thrive ORPHA:521426
Cap Polyposis
Weight loss ORPHA:160148
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... ORPHA:330001
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Obesity OMIM:618653
Bullous Pemphigoid
Weight loss ORPHA:703
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia ORPHA:1933
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response, Progressive psychomotor deterioratio... OMIM:268800
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Charge Syndrome
Depressed nasal bridge, Facial palsy, Choanal atresia, Anosmia, Optic atrophy, Chorioretinal colo... ORPHA:138
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Osteosarcoma
Weight loss ORPHA:668
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy, Prominent nose OMIM:617281
Thymic Carcinoma
Weight loss ORPHA:99868
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Wide nasal bridge, Obesity, Weight loss, Attention deficit hyperactivity ... ORPHA:251071
Giant Cell Arteritis
Epistaxis, Recurrent pharyngitis, Optic atrophy, Depression, Weight loss ORPHA:397
Rett Syndrome
Motor deterioration, Cachexia, Dystonia OMIM:312750
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ganglioneuroma, Horner syndrome, Weight loss OMIM:256700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Immunodeficiency 27A
Weight loss OMIM:209950
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Failure to thrive in infancy, Weight loss ORPHA:171876
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wide nasal bridge, Cachexia ORPHA:2774
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss ORPHA:1332
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Carcinoid tumor, Pancreatic islet cell adenoma, Weight loss ORPHA:97289
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Depression, Weight loss, Dimin... OMIM:607459
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Chronic Beryllium Disease
Weight loss ORPHA:133
Eosinophilic Gastroenteritis
Allergic rhinitis, Weight loss ORPHA:2070
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Retinopathy, Optic atrophy, Confusion, Cachexia ORPHA:220295
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pemphigus Vulgaris
Weight loss ORPHA:704
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Adult-Onset Still Disease
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:829
Secondary Short Bowel Syndrome
Failure to thrive, Aganglionic megacolon, Weight loss ORPHA:95427
Xfe Progeroid Syndrome
Cachexia, Optic atrophy, Failure to thrive, Convex nasal ridge, Attenuation of retinal blood vessels OMIM:610965
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Lynch Syndrome
Depression, Weight loss, Irritability, Attention deficit hyperactivity disorder, Memory impairment ORPHA:144
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Choanal atresia, Aplasia of the nose OMIM:603457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia OMIM:253800
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Fryns-Smeets-Thiry Syndrome
Narrow nasal bridge, Prominent nasal bridge, Cachexia ORPHA:2058
Nephroblastoma
Weight loss ORPHA:654
Aredyld Syndrome
Abnormal nasal morphology, Cachexia ORPHA:1133
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Familial Colorectal Cancer Type X
Depression, Weight loss, Irritability, Attention deficit hyperactivity disorder, Memory impairment ORPHA:440437
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Felty Syndrome
Recurrent pharyngitis, Rhinitis, Weight loss ORPHA:47612
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Emotional lability, Hyperactivity OMIM:620047
19Q13.11 Microdeletion Syndrome
Failure to thrive, Broad columella, Cachexia, Underdeveloped nasal alae ORPHA:217346
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Depressed nasal bridge, Broad nasal tip, Dystonia, Cherry red spot ... ORPHA:79255
Adrenocortical Carcinoma
Irritability, Increased body weight, Weight loss ORPHA:1501
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Self-mutilation of tong... ORPHA:2388
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Yao Syndrome
Weight loss OMIM:617321
Acrodermatitis Enteropathica
Emotional lability, Failure to thrive, Weight loss ORPHA:37
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... OMIM:617099
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Short Syndrome
Wide nasal bridge, Weight loss ORPHA:3163
X-Linked Intellectual Disability, Cabezas Type
Tremor, Obesity, Cachexia, Prominent nose ORPHA:85293
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Celiac Disease, Susceptibility To, 1
Depression, Failure to thrive, Weight loss OMIM:212750
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Rheumatoid Arthritis
Weight loss OMIM:180300
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Loeffler Endocarditis
Weight loss ORPHA:75566
Igg4-Related Aortitis
Weight loss ORPHA:449400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Anteverted nares, Midline defect of the nose, Cachexia ORPHA:1969
Wolman Disease
Cachexia ORPHA:75233
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Seckel Syndrome
Cognitive impairment, Convex nasal ridge, Cachexia ORPHA:808
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Acute Promyelocytic Leukemia
Epistaxis, Weight loss ORPHA:520
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia ORPHA:293173
Ménétrier Disease
Weight loss ORPHA:2494
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Granulomatosis With Polyangiitis
Concave nasal ridge, Nasal mucosa vasculitis, Retinal hemorrhage, Weight loss OMIM:608710
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Poems Syndrome
Papilledema, Weight loss ORPHA:2905
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Weight loss ORPHA:370348
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Weight loss ORPHA:97287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Carcinoid tumor, Weight loss ORPHA:100085
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration OMIM:612852
Malignant Atrophic Papulosis
Abnormal optic nerve morphology, Weight loss ORPHA:679
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip... ORPHA:191
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Polymyositis
Weight loss ORPHA:732
Pneumocystosis
Weight loss ORPHA:723
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Weight loss ORPHA:183
Hermansky-Pudlak Syndrome
Ocular albinism, Abnormal optic nerve morphology, Epistaxis, Weight loss ORPHA:79430
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Refractory Celiac Disease
Weight loss ORPHA:398063
Klatskin Tumor
Weight loss ORPHA:99978
Al Amyloidosis
Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto... ORPHA:85443
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Neuroendocrine Tumor Of Stomach
Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100075
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Familial Mediterranean Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:249100
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Cachexia, Abnormal optic nerve morphology, Short nose ORPHA:109
Polycythemia Vera
Epistaxis, Weight loss ORPHA:729
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Failure to thrive, Weight loss ORPHA:199299
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Whipple Disease
Cachexia, Depression ORPHA:3452
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss ORPHA:71273
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Cachexia, Weight loss, Cognitive impairment, Failure to thrive ORPHA:275761
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Trisomy 18
Abnormality of retinal pigmentation, Choanal atresia, Cachexia, Cognitive impairment, Short nose ORPHA:3380
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Behçet Disease
Confusion, Retrobulbar optic neuritis, Weight loss, Irritability, Optic neuritis, Memory impairme... ORPHA:117
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Primary Myelofibrosis
Cachexia ORPHA:824
Simple Cryoglobulinemia
Progressive neurologic deterioration, Weight loss ORPHA:91139
Budd-Chiari Syndrome
Weight loss ORPHA:131
Thyrotoxic Periodic Paralysis
Tremor, Obesity, Abnormality of peripheral nerve conduction, Weight loss ORPHA:79102
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Charge Syndrome
Facial palsy, Anosmia, Choanal atresia, Retinal coloboma OMIM:214800
Nijmegen Breakage Syndrome
Depressed nasal bridge, Prominent nasal bridge, Cachexia, Prominent nose, Attention deficit hyper... ORPHA:647
Riddle Syndrome
Emotional lability, Recurrent sinusitis, Weight loss ORPHA:420741
Oculopharyngodistal Myopathy 1
Tremor, Facial palsy, Weight loss OMIM:164310
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Failure to thrive, Retinopathy, Weight loss ORPHA:99885
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Pancreatic endocrine tumor, Cranial nerve compression, Insulinom... ORPHA:652
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Thymoma
Weight loss ORPHA:99867
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Cystic Echinococcosis
Weight loss ORPHA:400
Mucolipidosis Type Ii
Depressed nasal bridge, Cognitive impairment, Weight loss ORPHA:576
Norrie Disease
Narrow nasal bridge, Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyalo... ORPHA:649
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Schwartz-Jampel Syndrome
Prominent nasal bridge, Cachexia, Blepharospasm, Irritability, Attention deficit hyperactivity di... ORPHA:800
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration, Anor... ORPHA:99827
Acute Adrenal Insufficiency
Orthostatic hypotension, Failure to thrive, Weight loss ORPHA:95409
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Aicardi-Goutieres Syndrome 7
Irritability, Dystonia, Weight loss OMIM:615846
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Reactive Arthritis
Cognitive impairment, Weight loss ORPHA:29207
Cystinosis, Nephropathic
Failure to thrive in infancy, Progressive neurologic deterioration, Retinal pigment epithelial mo... OMIM:219800
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic endocrine tumor, Increased body weight, Weight loss, Pulmonary carcinoid tumor, Trunca... ORPHA:99889
Brucellosis
Small for gestational age, Abnormality of the peripheral nervous system, Weight loss, Depression,... ORPHA:1304
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Granulomatosis With Polyangiitis
Retinopathy, Abnormality of the nose, Epistaxis, Weight loss ORPHA:900
Pancreatoblastoma
Weight loss ORPHA:677
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, We... ORPHA:91500
Familial Thrombocytosis
Weight loss ORPHA:71493
African Trypanosomiasis
Papilledema, Tremor, Weight loss, Choreoathetosis, Irritability, Optic neuritis, Delirium ORPHA:3385
Camurati-Engelmann Disease
Facial palsy, Cachexia, Optic atrophy, Optic nerve compression, Slender build ORPHA:1328
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Abnormal optic nerve morphology, Weight loss ORPHA:79078
Pyomyositis
Weight loss ORPHA:764
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Microsporidiosis
Rhinitis, Cachexia, Weight loss ORPHA:2552
Tropical Pancreatitis
Weight loss ORPHA:103918
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Weight loss ORPHA:100078
Q Fever
Weight loss ORPHA:781
Caroli Disease
Weight loss ORPHA:53035
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Zollinger-Ellison Syndrome
Neuroendocrine neoplasm, Glucagonoma, Weight loss ORPHA:913
Alveolar Echinococcosis
Weight loss ORPHA:284
Addison Disease
Orthostatic hypotension, Failure to thrive, Weight loss ORPHA:85138
Primary Sclerosing Cholangitis
Depression, Weight loss ORPHA:171
Sarcoidosis, Susceptibility To, 1
Chorioretinitis, Optic neuropathy, Weight loss OMIM:181000
Castleman Disease
Weight loss ORPHA:160
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Ppoma
Intestinal carcinoid, Weight loss ORPHA:97278
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Grfoma
Pheochromocytoma, Intestinal carcinoid, Weight loss ORPHA:97261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Fanconi Anemia
Aganglionic megacolon, Choanal atresia, Weight loss ORPHA:84
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Glucagonoma
Depression, Weight loss ORPHA:97280
Erdheim-Chester Disease
Weight loss ORPHA:35687
Stickler Syndrome
Retinal detachment, Anteverted nares, Depressed nasal bridge, Cachexia, Depressed nasal ridge, Ab... ORPHA:828
Tsh-Secreting Pituitary Adenoma
Tremor, Weight loss ORPHA:91347
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Anteverted nares, Broad nasal tip, Long nose, Bulbous nose, Wide na... OMIM:619522
Yellow Fever
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Le... ORPHA:99829
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Vipoma
Ganglioneuroma, Weight loss ORPHA:97282
Postinfectious Vasculitis
Retinal vasculitis, Abnormality of the peripheral nervous system, Weight loss ORPHA:48435
Malt Lymphoma
Weight loss ORPHA:52417
Immunodeficiency 31C
Weight loss OMIM:614162
Multiple Myeloma
Weight loss ORPHA:29073
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Marfan Syndrome
Retinal detachment, Attention deficit hyperactivity disorder, Slender build, Cachexia ORPHA:558
Rat-Bite Fever
Weight loss ORPHA:31205
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Juvenile Polyposis Of Infancy
Depressed nasal bridge, Cachexia ORPHA:79076
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Papilledema, Cachexia ORPHA:2072
Hutchinson-Gilford Progeria Syndrome
Narrow nasal tip, Narrow nasal ridge, Weight loss, Abnormal nasal tip morphology, Severe failure ... ORPHA:740
Nocardiosis
Chorioretinitis, Weight loss ORPHA:31204
Somatostatinoma
Weight loss ORPHA:97283
Parathyroid Carcinoma
Weight loss ORPHA:143
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia ORPHA:438213
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Pulmonary Alveolar Microlithiasis