Gene Summary

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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
hyperactivity Nav2em1(IMPC)Tcp HOM   Early adult 9.75×10-07
small kidney Nav2em1(IMPC)Tcp HOM Early adult 0.00
increased neutrophil cell number Nav2em1(IMPC)Tcp HOM Early adult 3.10×10-06
decreased lymphocyte cell number Nav2em1(IMPC)Tcp HOM Early adult 3.38×10-05
abnormal skin morphology Nav2em1(IMPC)Tcp HOM Early adult 0.00
increased circulating aspartate transaminase level Nav2em1(IMPC)Tcp HOM Early adult 1.38×10-07
decreased exploration in new environment Nav2em1(IMPC)Tcp HOM Early adult 2.79×10-07

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

Gross Pathology and Tissue Collection


8 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Nav2 mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Hyperlysinemia, Type I
Anemia, Hyperactivity, Cognitive impairment, Hyperlysinemia OMIM:238700
Bardet-Biedl Syndrome 19
Hyposmia, Rod-cone dystrophy, Obesity OMIM:615996
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency 40
Lymphopenia OMIM:616433
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Anosmia, Wide nasal bridge, Papilledema, Nasal congestion OMIM:600679
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Dementia, Apathy, Irritability, Weight loss OMIM:606438
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Huntington Disease
Suicidal ideation, Dystonia, Memory impairment, Anxiety, Mental deterioration, Aggressive behavio... ORPHA:399
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Obesity, Anosmia OMIM:617885
Huntington Disease-Like 2
Weight loss, Dementia, Dystonia, Memory impairment ORPHA:98934
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Anosmia, Orthostatic hypotension, Axonal degeneration, Decreased ... OMIM:608720
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Head tremor, Torticollis, Intention tremor OMIM:613724
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity OMIM:616657
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Bardet-Biedl Syndrome 17
Anosmia, Retinal degeneration, Cognitive impairment, Obesity, Rod-cone dystrophy, Macular atrophy... OMIM:615994
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia OMIM:615267
Immunodeficiency 19
Lymphopenia OMIM:615617
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Pulmonary Blastoma
Weight loss ORPHA:64741
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
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperglycinuria OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Young-Onset Parkinson Disease
Cognitive impairment, Dystonia, Anxiety, Dementia, Panic attack, Abnormal autonomic nervous syste... ORPHA:2828
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Progressive neurologic deterioration, Weight loss, Cachexia OMIM:612075
Weight loss ORPHA:3389
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia, Abnormal autonomic nervous system physiology OMIM:243000
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Dementia, Resting tremor OMIM:607060
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Aplasia/Hypoplasia involving the nose, Choanal atresia ORPHA:1135
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Anosmia OMIM:614879
Hereditary Late-Onset Parkinson Disease
Low frustration tolerance, Dystonia, Resting tremor, Dementia, Mental deterioration, Apathy, Hypo... ORPHA:411602
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Perry Syndrome
Apathy, Dementia, Weight loss, Tremor ORPHA:178509
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Depressed nasal bridge, Anosmia, Short nose OMIM:302950
Hyperostosis Cranialis Interna
Hyposmia, Facial palsy, Optic atrophy OMIM:144755
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614838
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Kufor-Rakeb Syndrome
Anosmia, Dystonia, Dementia, Tremor, Aggressive behavior, Hyposmia, Torticollis OMIM:606693
Aural Atresia, Congenital
Hyposmia OMIM:607842
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis OMIM:247800
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Optic disc ... OMIM:601152
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Anosmia OMIM:610628
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Hyperglycinemia, Hyperglycinuria OMIM:605899
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Marcus-Gunn Syndrome
Morning glory anomaly, Abnormality of the sense of smell, Abnormal fifth cranial nerve morphology... ORPHA:91412
Spinocerebellar Ataxia 48
Dystonia, Anxiety, Mental deterioration, Irritability, Cachexia, Tremor OMIM:618093
Anxiety, Hyperactivity, Aggressive behavior, Increased level of hippuric acid in urine, Irritabil... OMIM:261600
Morm Syndrome
Micropenis, Hyperactivity, Aggressive behavior ORPHA:75858
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Diencephalic Syndrome
Decreased body weight, Optic atrophy, Cachexia ORPHA:1672
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Anosmia, Wide nasal bridge OMIM:210745
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Aggressive behav... ORPHA:97229
Mulibrey Nanism
Wide nasal bridge, Cachexia ORPHA:2576
Parkinson Disease 4, Autosomal Dominant
Dementia, Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology OMIM:605543
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Increased urinary disaccharide excretion, Aggressive behavior OMIM:248510
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Johnson Neuroectodermal Syndrome
Anosmia, Bulbous nose, Choanal atresia, Failure to thrive, Facial palsy ORPHA:2316
Classic Pantothenate Kinase-Associated Neurodegeneration
Cognitive impairment, Opisthotonus, Generalized dystonia, Pigmentary retinopathy, Rod-cone dystro... ORPHA:216866
Idiopathic Achalasia
Weight loss ORPHA:930
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Cognitive impairment, Chronic kidney disease, Hyperuricemia, Neutropenia, Anemia, Nep... OMIM:617056
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Oromandibular Dystonia
Generalized dystonia, Blepharospasm, Abnormality of the nose, Limb dystonia, Laryngeal dystonia, ... ORPHA:93958
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Acute kidney injury, Thrombocytopenia, Neutropenia, Lymphop... ORPHA:859
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Mental deterioration, Hypertriglyceridemia OMIM:615924
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Juvenile Huntington Disease
Dementia, Dystonia, Weight loss, Irritability ORPHA:248111
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Choanal atresia OMIM:147950
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100083
Refsum Disease, Classic
Rod-cone dystrophy, Anosmia, Retinal degeneration OMIM:266500
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Hereditary Central Diabetes Insipidus
Irritability, Weight loss ORPHA:30925
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Tay-Sachs Disease
Cherry red spot of the macula, Psychomotor deterioration, Dementia, Apathy, Exaggerated startle r... OMIM:272800
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphop... ORPHA:444463
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Exaggerated startle response, Optic atrophy, Motor ... OMIM:609541
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Cognitive impairment, Dystonia, Anxiety, Exaggerated startle respo... ORPHA:309246
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic disc ... ORPHA:320406
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased proportion... OMIM:617514
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Anosmia, Eunuchoid habitus OMIM:308700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia OMIM:244200
Chronic Hiccup
Weight loss ORPHA:396
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Anosmia, Midnasal stenosis, Choanal atresia, Abnormal nasopharynx mor... OMIM:147250
Johnson Neuroectodermal Syndrome
Choanal stenosis, Anosmia, Facial palsy OMIM:147770
Perry Syndrome
Suicidal ideation, Dystonia, Anxiety, Apathy, Frontotemporal dementia, Weight loss, Tremor OMIM:168605
Septo-Optic Dysplasia Spectrum
Obesity, Optic nerve hypoplasia, Anosmia, Septo-optic dysplasia ORPHA:3157
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Elevated circulating gamma-aminobutyric acid... OMIM:271980
Isaacs Syndrome
Weight loss ORPHA:84142
Idiopathic Intracranial Hypertension
Obesity, Focal sensory seizure with olfactory features, Abnormal emotion/affect behavior, Papille... ORPHA:238624
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Congenital Hypothyroidism
Anxiety, Anosmia, Optic atrophy, Depressed nasal ridge ORPHA:442
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hypokalemia, Hyperactivity, Polyuria, Renal magnesium wasting, Renal potassium wasti... OMIM:618314
Non-Functioning Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Hypertensive retinopathy, Panic attack, Cranial ne... ORPHA:94080
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Abnormality of the nares, Short nose ORPHA:1295
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy, Anosmia ORPHA:773
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Eunuchoid habitus OMIM:308750
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior OMIM:619470
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Mental deterioration, H... OMIM:617575
Retinopathy, Absent nares, Anosmia, Dystonia, Cognitive impairment, Depressed nasal ridge, Chorio... ORPHA:2162
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Attrv30M Amyloidosis
Weight loss, Vitreous floaters, Abnormal autonomic nervous system physiology ORPHA:85447
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Landau-Kleffner Syndrome
Memory impairment, Anxiety, Hyperactivity, Aggressive behavior, Emotional lability, Social and oc... ORPHA:98818
Leber Optic Atrophy
Dystonia, Leber optic atrophy, Optic neuropathy, Postural tremor, Optic atrophy, Central retinal ... OMIM:535000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Stiff Person Spectrum Disorder
Emotional lability, Anxiety, Agoraphobia, Exaggerated startle response ORPHA:3198
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Central Diabetes Insipidus
Anxiety, Failure to thrive, Weight loss ORPHA:178029
Abnormality of the sense of smell ORPHA:2189
Ichthyosis And Male Hypogonadism
Rod-cone dystrophy, Anosmia, Polyneuritis OMIM:308200
Christianson Syndrome
Abnormality of the nose, Cachexia, Dystonia, Conspicuously happy disposition ORPHA:85278
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Superficial Siderosis
Cognitive impairment, Anosmia, Memory impairment, Dementia, Abnormality of the vestibulocochlear ... ORPHA:247245
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Kallmann Syndrome
Hyposmia, Obesity, Anosmia, Tremor ORPHA:478
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior OMIM:612716
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Elevated alpha-fetoprotein OMIM:617243
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Gerstmann-Straussler Disease
Memory impairment, Dementia, Aggressive behavior, Emotional lability, Weight loss, Tremor OMIM:137440
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Graves Disease, Susceptibility To, 1
Irritability, Weight loss OMIM:275000
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Dementia, Decreased sensory nerve c... ORPHA:298
Cognitive impairment, Memory impairment, Neurofibromas, Obesity, Transient global amnesia, Emotio... ORPHA:2495
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Peripheral demyelination, Myelin outfoldings, Aganglionic megacolon, Abnormal autonomic ... OMIM:609136
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Lymphopenia, Aggressive behavior, Hyperactivity ORPHA:391307
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Emotional lability, Irritability, Lim... OMIM:608643
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Chronic rhinitis, Recurrent bronchitis OMIM:244400
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Benign Schwannoma
Schwannoma, Abnormal cranial nerve morphology, Peripheral Schwannoma, Nasal polyposis, Scleral sc... ORPHA:252164
Moynahan Syndrome
Cachexia ORPHA:2574
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Anxiety, Neutrophilia OMIM:266265
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Hypertensive retinopathy, Tremor, Panic attack, Cr... ORPHA:276621
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive behavior, Irritabil... ORPHA:3077
Isolated Succinate-Coq Reductase Deficiency
Dementia, Motor deterioration, Pigmentary retinopathy, Irritability, Progressive psychomotor dete... ORPHA:3208
Hirschsprung Disease
Aganglionic megacolon, Weight loss, Failure to thrive in infancy ORPHA:388
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
8Q21.11 Microdeletion Syndrome
Wide nose, Abnormality of the sense of smell, Underdeveloped nasal alae ORPHA:284160
Relapsing Fever
Leukopenia, Leukocytosis, Hematuria, Acute kidney injury, Elevated circulating creatinine concent... ORPHA:91547
Aregenerative Anemia
Pancytopenia, Cognitive impairment, Dementia, Decreased proportion of CD4-positive helper T cells... ORPHA:101096
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Pfapa Syndrome
Recurrent pharyngitis, Weight loss ORPHA:42642
Huntington Disease-Like 1
Dementia, Cognitive impairment, Weight loss, Memory impairment ORPHA:157941
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Gm1 Gangliosidosis
Broad nasal tip, Cherry red spot of the macula, Cognitive impairment, Dystonia, Weight loss, Gene... ORPHA:354
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Congenital Tufting Enteropathy
Choanal atresia, Failure to thrive, Irritability, Optic disc coloboma, Weight loss ORPHA:92050
Hodgkin Lymphoma
Weight loss ORPHA:98293
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis, Hepatosplenomegaly,... OMIM:619644
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Mcdonough Syndrome
Cachexia, Prominent nose, Underdeveloped nasal alae ORPHA:2471
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short nose ORPHA:1389
Gm2-Gangliosidosis, Ab Variant
Apathy, Dementia, Dystonia, Exaggerated startle response OMIM:272750
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Proximal renal tubular acidosis, Aggressive behavior OMIM:615824
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Fatal Familial Insomnia
Dementia, Weight loss, Abnormal autonomic nervous system physiology OMIM:600072
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Rasmussen Subacute Encephalitis
Cognitive impairment, Memory impairment, Hyperactivity, Emotional lability, Irritability, Attenti... ORPHA:1929
X-Linked Creatine Transporter Deficiency
Dystonia, Aganglionic megacolon, Athetosis, Self-mutilation, Cachexia ORPHA:52503
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Anteverted nares, Weight loss, Depressed nasal ridge ORPHA:1842
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Rhabdoid Tumor
Irritability, Weight loss ORPHA:69077
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior OMIM:615516
Focal Myositis
Weight loss ORPHA:48918
Pelizaeus-Merzbacher Disease
Cachexia, Dystonia, Optic atrophy, Failure to thrive in infancy ORPHA:702
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Hyperactivity, Enuresis... ORPHA:247585
Infantile Krabbe Disease
Cherry red spot of the macula, Opisthotonus, Psychomotor deterioration, Mental deterioration, Dec... ORPHA:206436
Waardenburg Syndrome, Type 2E
Hypopigmentation of the fundus, Anosmia, Ocular albinism OMIM:611584
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Flynn-Aird Syndrome
Rod-cone dystrophy, Dementia, Cachexia ORPHA:2047
Moebius Syndrome
Abnormality of the sense of smell, Facial palsy ORPHA:570
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
8P11.2 Deletion Syndrome
Retinal dystrophy, Depressed nasal bridge, Anosmia ORPHA:251066
Glossopharyngeal Neuralgia
Schwannoma, Anxiety, Cranial nerve compression, Weight loss, Abnormal glossopharyngeal nerve morp... ORPHA:221098
Mast Cell Sarcoma
Weight loss ORPHA:66661
Juvenile Amyotrophic Lateral Sclerosis
Cognitive impairment, Opisthotonus, Dystonia, Axial dystonia, Cachexia, Head titubation, Retrocol... ORPHA:300605
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Aggressive behavior, Heparan sulfate excretion in urine, Progressive... OMIM:252920
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Leukocytosis, Hyperactivity, Splenomegaly, Hypervalinemia, Elevated circulating c... OMIM:615673
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Anosmia, Absent nares, Hyposmia ORPHA:2250
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anxiety, Anosmia OMIM:619718
Polyarteritis Nodosa
Sensory axonal neuropathy, Polyneuritis, Weight loss ORPHA:767
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Hypertensive retinopathy, Tremor, Panic attack, Cr... ORPHA:29072
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Bulbous nose, Failure to thrive in infancy, Prominent nasal bridge, Cachexia, Anteverted nares, P... OMIM:616801
Follicular Lymphoma
Weight loss ORPHA:545
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Conspicuously happy disposition, Wide nasal bridge, Severe failure to th... ORPHA:371364
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad nasal tip, Dystonia, Underdeveloped nasal alae, Anxiety, Wide nasal bridge, Exaggerated sta... ORPHA:438216
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Sneddon Syndrome
Mental deterioration, Lymphopenia OMIM:182410
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Anemia, Liver abscess, Brain... ORPHA:54251
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Convex nasal ridge, Weight loss, Cachexia ORPHA:1979
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Dystonia, Cachexia OMIM:618186
Stiff-Person Syndrome
Agoraphobia, Opisthotonus, Anxiety, Exaggerated startle response OMIM:184850
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Wide nasal bridge, Cachexia ORPHA:1438
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Macrocytic anemia OMIM:614294
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Acute leukemi... ORPHA:3226
Pleural Mesothelioma
Weight loss ORPHA:50251
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
X-Linked Adrenoleukodystrophy
Cognitive impairment, Dementia, Hyperactivity, Aggressive behavior, Urinary bladder sphincter dys... ORPHA:43
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Kaposi Sarcoma
Weight loss, Abnormal retinal morphology ORPHA:33276
Aicardi-Goutieres Syndrome 9
Dystonia, Weight loss, Irritability, Failure to thrive, Chorioretinal atrophy, Self-mutilation, O... OMIM:619487
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Hydronephrosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplas... OMIM:612541
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Wilson Disease
Failure to thrive, Weight loss, Increased body weight, Aggressive behavior ORPHA:905
Renpenning Syndrome
Cachexia, Broad columella, Prominent nose ORPHA:3242
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Urinary incontinence, Nocturia, Urinary hesitancy, Urinary urgency, Neonatal hyper... OMIM:609727
Rett Syndrome
Dementia, Motor deterioration, Dystonia, Cachexia OMIM:312750
Glycine Encephalopathy With Normal Serum Glycine
Depressed nasal bridge, Anteverted nares, Optic atrophy, Exaggerated startle response OMIM:617301
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Holocarboxylase Synthetase Deficiency
Irritability, Weight loss ORPHA:79242
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Takayasu Arteritis
Retinopathy, Weight loss ORPHA:3287
Amoebiasis Due To Free-Living Amoebae
Hyposmia, Facial palsy, Irritability ORPHA:68
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Proteinuria, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemi... OMIM:242900
Cognitive impairment, Lymphopenia ORPHA:100
Waardenburg Syndrome, Type 4C
Anosmia, Aganglionic megacolon OMIM:613266
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Leukopenia, Cutane... ORPHA:443811
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Tetrasomy 12P
Cachexia, Anteverted nares, Short nose ORPHA:884
Weight loss ORPHA:69078
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Failure to thrive, Exaggerated startle response, Optic atrophy, Short nose OMIM:617527
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Decreased nerve conduction velocity ORPHA:1933
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Rhinitis, Weight loss ORPHA:507
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating ino... OMIM:613179
Adult-Onset Still Disease
Leukocytosis, Abnormal circulating lipid concentration, Neutrophilia, Splenomegaly, Elevated circ... ORPHA:829
Weight loss ORPHA:668
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Anxiety, Dementia, Motor deterioration, Mental deterioration, Hyperact... ORPHA:168491
Bullous Pemphigoid
Weight loss ORPHA:703
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cap Polyposis
Weight loss ORPHA:160148
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal autonomic nervous sys... ORPHA:330001
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Obesity OMIM:618653
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-... OMIM:617099
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Proteinuria, Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Micro... ORPHA:1830
Thymic Carcinoma
Weight loss ORPHA:99868
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration, Splenomegaly, Heparan sulfate excretion in urine OMIM:252930
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Hepatosplenomegaly, Splenomegaly, Abscess, Granuloma, Hemolytic anemia, Peria... OMIM:618935
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss, Horner syndrome, Ganglioneuroma OMIM:256700
Immunodeficiency 27A
Weight loss OMIM:209950
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Weight loss, Small for gestational age ORPHA:424
Tay-Sachs Disease
Cherry red spot of the macula, Dystonia, Memory impairment, Anxiety, Laryngeal dystonia, Exaggera... ORPHA:845
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Hyperactivity, Mental deterioratio... ORPHA:163681
Pediatric Systemic Lupus Erythematosus
Cognitive impairment, Nephrotic syndrome, Leukopenia, Hematuria, Proteinuria, Nephritis, Lymphope... ORPHA:93552
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Adrenocortical Carcinoma
Anxiety, Panic attack, Irritability, Increased body weight, Weight loss ORPHA:1501
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wide nasal bridge, Cachexia ORPHA:2774
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss ORPHA:1332
Thymic Neuroendocrine Tumor
Carcinoid tumor, Neuroendocrine neoplasm, Weight loss, Pancreatic islet cell adenoma ORPHA:97289
Hyperactivity, Hyperhistidinemia, Histidinuria ORPHA:2157
Aggressive behavior, Apathy, Hair-pulling, Abnormal autonomic nervous system physiology, Decrease... ORPHA:2388
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy, Recurrent upper and lower respiratory tract infections ORPHA:171876
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Hyperactivity, Aggressive behavior OMIM:610042
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Splenomegaly, Irritability, Neutropenia in presence of anti-neutropil... ORPHA:525731
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:603041
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Failure to thrive, Exaggerated startle response, Optic atrophy, Short nose ORPHA:521426
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia OMIM:605309
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia, Elevated circulating C-reactive protein concentration ORPHA:36238
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia ORPHA:83469
Charge Syndrome
Chorioretinal coloboma, Anosmia, Abnormal cranial nerve morphology, Choanal atresia, Depressed na... ORPHA:138
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Aplasia of the nose, Choanal atresia OMIM:603457
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Progressive psychomotor deterioration, Ex... OMIM:268800
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Cognitive impairment, Micropenis, Renal hypoplasia, Ab... OMIM:616541
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Eosinophilic Fasciitis
Weight loss ORPHA:3165
X-Linked Intellectual Disability, Cabezas Type
Obesity, Aggressive behavior, Cachexia, Prominent nose, Tremor ORPHA:85293
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune... OMIM:102700
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Irritability, Attention def... ORPHA:449291
Eosinophilic Gastroenteritis
Allergic rhinitis, Weight loss ORPHA:2070
Xfe Progeroid Syndrome
Optic atrophy, Convex nasal ridge, Failure to thrive, Cachexia, Attenuation of retinal blood vessels OMIM:610965
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Chronic Beryllium Disease
Weight loss ORPHA:133
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Low frustration tolerance, Micropenis, Hyperactivity, Self-mutilation, Microphallus OMIM:300486
Renal Coloboma Syndrome
Optic disc coloboma, Optic nerve dysplasia, Retinal coloboma ORPHA:1475
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Secondary Short Bowel Syndrome
Failure to thrive, Aganglionic megacolon, Weight loss ORPHA:95427
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Avian Influenza
Leukopenia, Acute kidney injury, Elevated circulating C-reactive protein concentration, Thrombocy... ORPHA:454836
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Thrombocytosis, Elevated circulating C-reactive protein concentration, Anemia, Lympho... OMIM:615934
Fryns-Smeets-Thiry Syndrome
Narrow nasal bridge, Prominent nasal bridge, Cachexia ORPHA:2058
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Pemphigus Vulgaris
Weight loss ORPHA:704
8P23.1 Microdeletion Syndrome
Obesity, Wide nasal bridge, Prominent nasal bridge, Weight loss, Short nose ORPHA:251071
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Hyponatremia, Hyperkalemia, Thrombocytopenia, Anemia, Microphallu... OMIM:617053
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia, Broad columella, Underdeveloped nasal alae ORPHA:217346
Felty Syndrome
Rhinitis, Recurrent pharyngitis, Weight loss ORPHA:47612
Aredyld Syndrome
Abnormal nasal morphology, Cachexia ORPHA:1133
Weight loss ORPHA:654
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Sensory axonal neuropathy, Cognitive impairment, Dementia, Emotional lability, Retinal pigment ep... OMIM:607459
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Diaminoaciduria, Oroticaciduria, Hyperactivity, Irritability, Hyperargininemia, Hyperammonemia OMIM:207800
Giant Cell Arteritis
Recurrent pharyngitis, Weight loss, Optic atrophy, Epistaxis ORPHA:397
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Lujo Hemorrhagic Fever
Oliguria, Leukopenia, Leukocytosis, Anxiety, Mental deterioration, Elevated circulating C-reactiv... ORPHA:319213
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Legius Syndrome
Cognitive impairment, Nephrolithiasis, Hyperactivity, Male urethral meatus stenosis, Acute monocy... ORPHA:137605
Short Syndrome
Wide nasal bridge, Weight loss ORPHA:3163
Yao Syndrome
Weight loss OMIM:617321
Familial Colorectal Cancer Type X
Anxiety, Irritability, Weight loss, Memory impairment ORPHA:440437
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absen... OMIM:600802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Retinal dysplasia, Optic atrophy, Exaggerated startle response OMIM:253800
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Lynch Syndrome
Anxiety, Irritability, Weight loss, Memory impairment ORPHA:144
Symptomatic Form Of Hemochromatosis Type 1
Apathy, Weight loss ORPHA:465508
Rheumatoid Arthritis
Weight loss OMIM:180300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Membranoproliferative glomerulonephritis, L... OMIM:615816
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Elevated circulating C-reactive protein concentration, Abscess OMIM:612852
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Glomerulonephritis, ... ORPHA:3261
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
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
Seckel Syndrome
Cognitive impairment, Convex nasal ridge, Cachexia ORPHA:808
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Lymphopenia ORPHA:508542
Acrodermatitis Enteropathica
Emotional lability, Failure to thrive, Weight loss ORPHA:37
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Familial Mediterranean Fever
Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Elevated circulating C-reactive pro... OMIM:249100
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Sweet Syndrome
Sterile abscess, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Elevated circulating C-react... ORPHA:3243
Legionnaires Disease
Hyponatremia, Hematuria, Proteinuria, Splenomegaly, Renal insufficiency, Lymphopenia ORPHA:549
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Anteverted nares, Midline defect of the nose, Cachexia ORPHA:1969
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Loeffler Endocarditis
Weight loss ORPHA:75566
Elevated alpha-fetoprotein, T lymphocytopenia, Leukemia, Decreased proportion of CD4-positive hel... OMIM:208900
Ménétrier Disease
Weight loss ORPHA:2494
Nijmegen Breakage Syndrome
T lymphocytopenia, Hydronephrosis, Autoimmune hemolytic anemia, Hyperactivity, B lymphocytopenia,... OMIM:251260
Wolman Disease
Cachexia ORPHA:75233
Poems Syndrome
Weight loss, Papilledema ORPHA:2905
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Igg4-Related Aortitis
Weight loss ORPHA:449400
Primary Hepatic Neuroendocrine Carcinoma
Carcinoid tumor, Neuroendocrine neoplasm, Weight loss ORPHA:100085
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Impaired lymphocyte transform... ORPHA:35078
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Broad nasal tip, Depressed nasal bridge, Exaggerated startle response ORPHA:79255
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Popov-Chang syndrome
Self-injurious behavior, Lymphopenia OMIM:618428
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Celiac Disease, Susceptibility To, 1
Anxiety, Failure to thrive, Weight loss OMIM:212750
Klatskin Tumor
Weight loss ORPHA:99978
Cockayne Syndrome
Cognitive impairment, Action tremor, Retinal degeneration, Retinal hemorrhage, Intention tremor, ... ORPHA:191
Beta-Ketothiolase Deficiency
Apathy, Weight loss ORPHA:134
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Retinopathy, Optic atrophy, Cachexia ORPHA:220295
Bronchial Neuroendocrine Tumor
Weight loss, Pulmonary carcinoid tumor ORPHA:97287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Malignant Atrophic Papulosis
Weight loss, Abnormality of the optic nerve ORPHA:679
Acute Promyelocytic Leukemia
Weight loss, Epistaxis ORPHA:520
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Anemia, Hypertriglyceridemia, Lymphopenia OMIM:617591
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Granulomatosis With Polyangiitis
Weight loss, Retinal hemorrhage, Concave nasal ridge OMIM:608710
Weight loss ORPHA:732
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Nasal polyposis ORPHA:183
Hermansky-Pudlak Syndrome
Ocular albinism, Weight loss, Epistaxis, Abnormality of the optic nerve ORPHA:79430
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Charge Syndrome
Anosmia, Choanal atresia, Self-mutilation, Facial palsy, Retinal coloboma OMIM:214800
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Cognitive impairment, Lymphopenia ORPHA:935
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Tubulointerstitial fibrosis, Neutropenia, Lymphop... OMIM:607944
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Polycythemia Vera
Weight loss, Epistaxis ORPHA:729
Weight loss ORPHA:723
Al Amyloidosis