Gene Summary

Name:
interleukin 9 receptor
Synonyms:
N/A

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
abnormal behavior Il9rem1(IMPC)Mbp HOM Early adult 1.41×10-13
decreased thigmotaxis Il9rem1(IMPC)Mbp HOM Early adult 1.41×10-13
hyperactivity Il9rem1(IMPC)Mbp HOM Early adult 3.19×10-05
abnormal kidney morphology Il9rem1(IMPC)Mbp HOM Early adult 0.00
small kidney Il9rem1(IMPC)Mbp HOM Early adult 0.00
hypoactivity Il9rem1(IMPC)Mbp HOM Early adult 1.68×10-09
anophthalmia Il9rem1(IMPC)Mbp HOM Early adult 0.00
decreased body length Il9rem1(IMPC)Mbp HOM Early adult 4.76×10-05
decreased anxiety-related response Il9rem1(IMPC)Mbp HOM Early adult 4.61×10-13
cataract Il9rem1(IMPC)Mbp HOM Early adult 4.27×10-05
abnormal liver morphology Il9rem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Il9rem1(IMPC)Mbp HOM Early adult 0.00
small liver Il9rem1(IMPC)Mbp HOM Early adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Il9r 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 Il9r by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... OMIM:601859
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Abnormal CD4:CD8 ratio, Defective T cell proliferati... OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Morm Syndrome
Aggressive behavior, Hyperactivity, Micropenis, Cataract ORPHA:75858
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Iris coloboma OMIM:611638
Cernunnos-Xlf Deficiency
Autoimmunity, B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Phenylketonuria
Blue irides, Aggressive behavior, Self-mutilation, Increased level of hippuric acid in urine, Hyp... OMIM:261600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocytopenia, Lymphopeni... ORPHA:444463
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, B lymphocytopenia, Lack of T cell func... ORPHA:277
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Splenomegaly, I... OMIM:614470
Immunodeficiency 8
Hyperactivity OMIM:615401
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... OMIM:178610
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cataract OMIM:617133
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Hyperglycinuria, Impulsivity, Lethargy OMIM:605899
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Increased circulating antibody level, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior, Increased urinary disacch... OMIM:248510
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Autoimmunity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Immunodeficiency 7
Autoimmunity, Hypereosinophilia OMIM:615387
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Ataxia, Hyperglycinuria OMIM:239500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Cataract OMIM:230200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... OMIM:300853
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Cockayne Syndrome Type 2
Gait disturbance, Hepatomegaly, Developmental cataract, Anophthalmia, Ataxia, Difficulty walking,... ORPHA:90322
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomega... ORPHA:231154
Unclassified Myelodysplastic Syndrome
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia ORPHA:98827
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of th... ORPHA:3378
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the p... ORPHA:2470
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Urinary urgency, Dysmetria, Spastic gait, Ataxia, Emotional lability, Tip-toe gait, Cat... OMIM:609195
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG l... ORPHA:331206
Immunodeficiency, Common Variable, 2
Autoimmunity, Impaired T cell function, Decreased circulating IgA level, Decreased circulating Ig... OMIM:240500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hepatomegaly OMIM:615924
Senior-Loken Syndrome
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Ataxia, Cataract, ... ORPHA:3156
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Inability to walk ORPHA:411986
Usher Syndrome Type 3
Astigmatism, Ataxia, Iris hypopigmentation, Cataract, Anxiety, Depression ORPHA:231183
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Microphthalmia, Cataract OMIM:278780
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Uraciluria, Microphthalmia, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma, Cataract, Microcornea ORPHA:139471
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Autoimmunity, Decreased proportion of class-switched memory B cells, Redu... OMIM:615559
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis, Cataract, Microcornea OMIM:610125
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria, Jaundice ORPHA:79238
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microphthalmia, Pancreatitis, Hepatic steatosis, Elevated circulating alanine amino... OMIM:618805
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Usher Syndrome Type 1
Ataxia, Cataract, Iris hypopigmentation, Anxiety, Depression ORPHA:231169
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblas... OMIM:617780
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated urinary 4-hydroxybutyric acid, Aggressive behavior, Increased l... OMIM:271980
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Iris hypopigmentation, Broad-based... ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Classic Galactosemia
Gait disturbance, Dystonia, Hepatomegaly, Gait imbalance, Jaundice, Ataxia, Cataract, Hepatic fai... ORPHA:79239
Cockayne Syndrome Type 1
Gait disturbance, Hepatomegaly, Anophthalmia, Ataxia, Cataract, Elevated hepatic transaminase, Pr... ORPHA:90321
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma, Hypoplasia of penis ORPHA:77298
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presen... ORPHA:572
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Waddling gait, Truncal ataxia, Cataract, Elevated hepatic transa... ORPHA:369840
Immunodeficiency 36
Autoimmunity, Chronic lymphatic leukemia, Decreased circulating antibody level, Splenomegaly, Lym... OMIM:616005
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Anencephaly 2
Anophthalmia OMIM:619452
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Corneal opacity, Cataract, Microcornea, Hypoplasia o... ORPHA:899
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Iris coloboma, Displacement of the urethral meatus, Ataxia, Cataract... ORPHA:2377
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Meckel Syndrome
Microcornea, Ureteral duplication, Microphthalmia, Pancreatic cysts, Asplenia, Urethral atresia, ... ORPHA:564
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Rheumatoid arth... ORPHA:48377
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells OMIM:615758
Anophthalmia Plus Syndrome
Anophthalmia, Iris coloboma ORPHA:1104
Lymphoproliferative Syndrome 1
Autoimmunity, Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, ... OMIM:613011
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Hepatomegaly, Cataract OMIM:613730
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgA level, Decreased circulating IgG level, Decreased proport... ORPHA:275
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cataract, Cholestasis ORPHA:570422
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia, Cataract OMIM:120433
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Asplenia, Anophthalmia, Pelvic kidney, Splenogonadal fu... OMIM:156810
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Posterior embryotoxon, Hematuria, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Galactosemia
Dystonia, Gait disturbance, Hepatomegaly, Gait imbalance, Jaundice, Ataxia, Cirrhosis, Cataract, ... ORPHA:352
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis OMIM:609313
Cerebrooculonasal Syndrome
Anophthalmia, Hypoplasia of penis ORPHA:66625
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Norrie Disease
Shallow anterior chamber, Microphthalmia, Hypoplasia of the iris, Aggressive behavior, Cataract, ... OMIM:310600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Microphthalmia, Myopic astigmatism, Aggressive behavior, Corneal opacity, Cataract, ... OMIM:152950
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Anophthalmia, Pelvic kidney, Multilobulated s... OMIM:601186
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... ORPHA:449400
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Micropenis, Abnormally large globe OMIM:618504
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Argininemia
Hepatomegaly, Oroticaciduria, Portal fibrosis, Spastic gait, Micronodular cirrhosis, Diaminoacidu... OMIM:207800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Proximal renal tubular acidosis OMIM:615824
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Alpha-Mannosidosis, Adult Form
Oligosacchariduria, Ataxia, Hepatosplenomegaly, Corneal opacity, Cataract, Anxiety, Depression ORPHA:309288
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hyperactivity, Ataxia, Hepatic steatosis, Gait ataxia, Limb dystonia ORPHA:363400
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Ataxia, Cataract, Elevated hepat... ORPHA:79095
3Q29 Microdeletion Syndrome
Hypospadias, Horseshoe kidney, Gait disturbance, Microphthalmia, Aggressive behavior, Cataract, A... ORPHA:65286
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Splenomegaly, Hyperactivity, Heparan sulfate excretion in urine OMIM:252920
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior, Developmental cataract OMIM:616809
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Transketolase Deficiency
Hepatomegaly, Self-injurious behavior, Renal cyst, Cataract, Increased level of ribose in urine, ... ORPHA:488618
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Microphthalmia, Syndromic 3
Hypospadias, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis OMIM:206900
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Ataxia, Inability to walk, Cataract, Jaundice OMIM:608885
Classic Phenylketonuria
Self-injurious behavior, Attention deficit hyperactivity disorder, Depression, Cataract ORPHA:79254
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Cataract, Hypoplasia of penis ORPHA:2250
Senior-Boichis Syndrome
Renal hypoplasia, Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated hepatic tr... ORPHA:84081
Autoimmune Hypoparathyroidism
Laryngeal dystonia, Irritability, Cataract, Calcium nephrolithiasis, Anxiety, Depression, Conjunc... ORPHA:36913
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... ORPHA:1929
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Self-mutilation, Keratitis, Hyperactivity, Emotional lability, Corneal ulcerati... OMIM:256800
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Optic nerve hypoplasia, Self-mutilation, Inappropriate laughter, Hyperopic astigmati... ORPHA:363686
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Pemphigus Erythematosus
Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... ORPHA:79480
Trisomy 1Q
Anophthalmia, Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261344
Myoclonic-Astatic Epilepsy
Microphthalmia, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, A... ORPHA:1942
X-Linked Adrenoleukodystrophy
Gait disturbance, Urinary bladder sphincter dysfunction, Aggressive behavior, Inappropriate sexua... ORPHA:43
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Aggressi... ORPHA:247585
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmunity, Systemic lupus erythematosus, Decreased proportion of C... ORPHA:760
Joubert Syndrome 21
Anophthalmia, Ataxia, Renal cyst OMIM:615636
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Decreased liver func... OMIM:124000
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, Hypoplasia of penis ORPHA:228402
Thymoma
Autoimmunity, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Anti-acetylchol... ORPHA:99867
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Cirrhosis, Decreased liver f... OMIM:230400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Mood swings, Aggressive behavior, Hyperactivity, Micropenis, Gait ataxia OMIM:300354
Holoprosencephaly
Dystonia, Abnormality of the spleen, Microphthalmia, Hypoplasia of penis, Anophthalmia, Iris colo... ORPHA:2162
Fibular Hemimelia
Anophthalmia, Abnormal anterior chamber morphology, Difficulty walking ORPHA:93323
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Opacification of the corneal stroma, Depression, ... OMIM:601853
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased lymphoc... OMIM:613179
Cri-Du-Chat Syndrome
Hypospadias, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity... OMIM:123450
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Peroxisome Biogenesis Disorder 10B
Prolonged neonatal jaundice, Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Astigmatism, Hyperactivity, Inability to walk, Ataxia, Low... ORPHA:168491
Usher Syndrome Type 2
Ataxia, Cataract, Iris hypopigmentation, Anxiety, Depression ORPHA:231178
16P12.1P12.3 Triplication Syndrome
Abnormality of the intrahepatic bile duct, Skin-picking, Hyperactivity, Anxiety, Attention defici... ORPHA:485405
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Abnormal proportion of CD8-positive T cells, L... ORPHA:443811
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Unilateral renal agenesis ORPHA:3306
Microgastria-Limb Reduction Defect Syndrome
Horseshoe kidney, Hepatomegaly, Abnormality of the spleen, Microphthalmia, Anophthalmia, Multicys... ORPHA:2538
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
X-Linked Lymphoproliferative Disease
Autoimmunity, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dy... ORPHA:2442
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... OMIM:610256
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Craniofacial Microsomia
Limbal dermoid, Microphthalmia, Anophthalmia, Multicystic kidney dysplasia, Ureteropelvic junctio... OMIM:164210
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Iris coloboma, Ureteral agenesis, Corneal o... ORPHA:141099
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Hepatomegaly, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frus... ORPHA:163681
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Corneal dystrophy, Anophthalmia, Megalocornea ORPHA:1101
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Chronic lymphatic leukemia, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... ORPHA:90033
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unsteady gait ORPHA:35069
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Hyperactivity, Micropenis, Broad-based gait, Vesicoureteral reflux OMIM:609625
Gamma-Heavy Chain Disease
Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:100026
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Autoimmunity, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... OMIM:242700
Pediatric-Onset Graves Disease
Mood swings, Hepatomegaly, Splenomegaly, Keratitis, Hyperactivity, Irritability, Elevated hepatic... ORPHA:525731
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Renal cyst, Nephrolithiasis, Stage 5 chronic ... OMIM:120330
Isolated Aniridia
Aniridia, Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Hyperactivity, Micropenis, Low frustration tolerance, Gait ataxia, Microphallus OMIM:300486
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Hyperactivity, Ataxia, Bilateral microphthalmos, Ocular anterior segment dys... ORPHA:369891
Mend Syndrome
Hyperactivity, Cataract OMIM:300960
Vacterl With Hydrocephalus
Anophthalmia, Microcornea, Microphthalmia ORPHA:3412
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Inappropriate laughter, Hyperactivity, Ataxia, Iris hypopigmentat... ORPHA:98794
Myopathy With Extrapyramidal Signs
Dystonia, Hepatomegaly, Splenomegaly, Hyperactivity, Ataxia, Elevated hepatic transaminase, Diffi... OMIM:615673
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Hyperactivity, Blue irides OMIM:614613
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Microphthalmia, Anophthalmia, Iris coloboma, Micropenis, Vesico... ORPHA:138
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Renal hypoplasia, Optic nerve aplasia ORPHA:264200
Microphthalmia With Linear Skin Defects Syndrome
Hypospadias, Abnormal penis morphology, Microphthalmia, Posterior embryotoxon, Sclerocornea, Anop... ORPHA:2556
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Shuffling gait, Cholelithiasis, Hyperactivity, Micropenis, Low frustration t... OMIM:300534
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsi... OMIM:610217
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Astigmatism, Inappropriate laughter... ORPHA:72
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging OMIM:182290
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
47,Xyy Syndrome
Hypospadias, Hyperactivity, Micropenis, Impulsivity, Attention deficit hyperactivity disorder ORPHA:8
Agel Amyloidosis
Keratoconjunctivitis sicca, Lattice corneal dystrophy, Stage 5 chronic kidney disease, Abnormal s... ORPHA:85448
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, B... ORPHA:1830
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Microphthalmia, Iris coloboma, Cataract, Vesicoureteral reflux, Anxiety, Attentio... ORPHA:250989
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252930
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Microphthalmia, Sclerocornea, Optic nerve hypoplasia,... OMIM:243605
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulat... ORPHA:227990
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
19P13.12 Microdeletion Syndrome
Hypospadias, Self-injurious behavior, Hyperactivity, Hepatic steatosis ORPHA:254346
Angelman Syndrome
Blue irides, Paroxysmal bursts of laughter, Progressive gait ataxia, Hyperactivity, Broad-based gait OMIM:105830
Thymic Aplasia
Autoimmunity, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Decreased ... ORPHA:83471
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Inability to walk, Cataract, Aminoaciduria OMIM:617913
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulat... ORPHA:227982
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Ureteral duplication, Microphthalmia, Ectopia lentis, Aniridia,... OMIM:305600
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia, Cataract ORPHA:2526
Fraser Syndrome 1
Hypospadias, Renal hypoplasia, Anophthalmia, Micropenis, Corneal opacity, Bilateral microphthalmos OMIM:219000
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252940
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Microphthalmia, Anophthalmia, Self-mutilation... OMIM:214800
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia OMIM:209920
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Alagille Syndrome 1
Prolonged neonatal jaundice, Cirrhosis, Cholestasis, Exocrine pancreatic insufficiency, Microcorn... OMIM:118450
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Intellectual Disability-Strabismus Syndrome
Hypospadias, Gait disturbance, Aggressive behavior, Hyperactivity, Micropenis, Medullary nephroca... ORPHA:363528
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Irritability, Anxiety, Hai... ORPHA:2388
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Anteri... OMIM:203780
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Microphthalmia, Syndromic 2
Hypospadias, Developmental cataract, Microphthalmia, Anophthalmia, Iris coloboma, Microcornea OMIM:300166
Joubert Syndrome 1
Hepatic fibrosis, Aggressive behavior, Self-mutilation, Renal cyst, Hyperactivity, Ataxia, Nephro... OMIM:213300
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability ORPHA:447980
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Microphthalmia, Keratitis, Ataxia, Cataract, Corneal neovascularizati... OMIM:278730
Spastic Paraplegia 29, Autosomal Dominant
Urinary urgency, Urinary hesitancy, Hyperactivity, Urinary incontinence, Nocturia OMIM:609727
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Polycystic kidney dysplasia, Hypoplasia of the retina, Cataract OMIM:263100
Hereditary Fructose Intolerance
Lethargy, Hepatomegaly, Chronic hepatic failure, Cataract, Chronic kidney disease, Renal insuffic... ORPHA:469
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Holoprosencephaly 9
Anophthalmia, Micropenis, Microphthalmia, Optic nerve hypoplasia OMIM:610829
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hepatic cysts, Renal cyst, Stage 5 chronic kidney d... ORPHA:805
Fraser Syndrome
Hypospadias, Renal hypoplasia, Microphthalmia, Urethral atresia, Anophthalmia, Multicystic kidney... ORPHA:2052
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Microphthalmia, Iris colobo... OMIM:221900
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Splenomegaly, Pa... OMIM:614576
Koolen-De Vries Syndrome
Hydronephrosis, Conspicuously happy disposition, Hyperactivity, Iris hypopigmentation, Cataract, ... OMIM:610443
Mucopolysaccharidosis Type 3
Gait disturbance, Mucopolysacchariduria, Hepatomegaly, Loss of ambulation, Aggressive behavior, S... ORPHA:581
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Microphthalmia, Aggressive behavior, Hyperactivity, Penoscrotal transposition OMIM:619148
Intellectual Developmental Disorder, X-Linked 98
Steroid-dependent nephrotic syndrome, Self-biting, Aggressive behavior, Hyperactivity, Urinary in... OMIM:300912
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Microphthalmia, Posterior embryotoxon, Microphakia, Sclerocorn... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Mic... ORPHA:91495
Microphthalmia, Syndromic 1
Hypospadias, Renal hypoplasia, Microphthalmia, Anophthalmia, Aggressive behavior, Self-mutilation... OMIM:309800
Legius Syndrome
Dystonia, Male urethral meatus stenosis, Nephrolithiasis, Hyperactivity, Cataract, Attention defi... ORPHA:137605
Microphthalmia, Syndromic 6
Hypospadias, Renal hypoplasia, Microphthalmia, Sclerocornea, Anophthalmia, Micropenis, Microcornea OMIM:607932
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Aggressive behavior, Hypoplasia of penis, Broad-based gait ORPHA:85293
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Self-injurious behavior, Dysmetria, Aggressive behavior, Astigmatism... ORPHA:96121
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Chronic hepatitis, Hepatitis, Cirrhosis, Cataract, Exocrine pancreatic insufficiency, B... OMIM:269200
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Gait disturbance, Hydronephrosis, Pelvic kidney, Renal cyst, Astigmatism, Hyperactiv... ORPHA:464306
Branchiooculofacial Syndrome
Hypospadias, Microphthalmia, Anophthalmia, Renal cyst, Iris coloboma, Cataract OMIM:113620
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Torticollis, Iris coloboma, Micropenis, Irritability, Anxiety, Jaundice, Hepatic ste... OMIM:619475
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dystonia, Bradykinesia, Blepharospasm, Hyperactivity, Urinary incontinence, Ata... OMIM:234200
Seckel Syndrome 1
Hypospadias, Hyperactivity, Abnormally large globe OMIM:210600
Stankiewicz-Isidor Syndrome
Hypospadias, Hyperactivity, Micropenis, Ureteral duplication OMIM:617516
Microphthalmia With Limb Anomalies
True anophthalmia, Horseshoe kidney, Microphthalmia ORPHA:1106
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Iris coloboma, Hyperactivity, Astigmatism ORPHA:468678
Wiedemann-Steiner Syndrome
Dilatation of renal calices, Aggressive behavior, Hyperactivity, Low frustration tolerance, Anxiety ORPHA:319182
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Aggressive behavior, Self-mutilation, Renal cyst, ... OMIM:270400
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Dubowitz Syndrome
Hypospadias, Microphthalmia, Hypoplasia of the iris, Iris coloboma, Hyperactivity, Megalocornea OMIM:223370
Mend Syndrome
Hyperactivity, Aggressive behavior, Microphthalmia, Cataract ORPHA:401973
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Self-inju... ORPHA:649
Oculoectodermal Syndrome
Limbal dermoid, Astigmatism, Hyperactivity, Bladder exstrophy, Opacification of the corneal strom... OMIM:600268
Distal Monosomy 12Q
Hydronephrosis, Annular pancreas, Self-mutilation, Hyperactivity, Micropenis, Polycystic kidney d... ORPHA:96149
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Hereditary Sensory And Autonomic Neuropathy Type 4
Decreased corneal reflex, Corneal scarring, Self-mutilation, Hyperactivity, Corneal ulceration, I... ORPHA:642
Bone Marrow Failure Syndrome 3
Hyperactivity, Astigmatism, Exocrine pancreatic insufficiency OMIM:617052
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Abnormal fear/anxiety-related behavior, Hydronephrosis, Agoraphobia, Self-injurious ... ORPHA:353281
Brain-Lung-Thyroid Syndrome
Hypospadias, Dystonia, Megacystis, Falls, Hyperactivity, Ataxia, Vesicoureteral reflux ORPHA:209905
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Witteveen-Kolk Syndrome
Hypospadias, Microphthalmia, Aggressive behavior, Conspicuously happy disposition, Iris coloboma,... OMIM:613406
Monosomy 9Q22.3
Hyperactivity, Microphthalmia, Cataract ORPHA:77301
Coffin-Siris Syndrome
Hypospadias, Horseshoe kidney, Aggressive behavior, Hepatoblastoma, Hyperactivity ORPHA:1465
Hyperlysinemia
Argininuria, Dysmetria, Cystinuria, Hyperactivity, Tip-toe gait, Hyperlysinuria, Decreased urine ... ORPHA:2203
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Urinary incontinence, Irritability ORPHA:447997
Mucopolysaccharidosis Type 2
Hepatomegaly, Aggressive behavior, Splenomegaly, Hyperactivity, Corneal opacity, Impulsivity ORPHA:580
Early Infantile Epileptic Encephalopathy
Dystonia, Self-injurious behavior, Hyperactivity, Micropenis, Episodic ataxia, Ureterocele ORPHA:1934
Histidinemia
Hyperactivity, Histidinuria ORPHA:2157
Distal Trisomy 17Q
Hyperactivity, Accessory spleen, Vesicoureteral reflux ORPHA:3379
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Abnormal fear/anxiety-related behavior, Hydronephrosis, Agoraphobia, Self-injurious ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Abnormal fear/anxiety-related behavior, Hydronephrosis, Agoraphobia, Self-injurious ... ORPHA:353277
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:457284
Tetrasomy 9P
Horseshoe kidney, Hydronephrosis, Inappropriate behavior, Absent gallbladder, Hyperactivity, Micr... ORPHA:3310
Monosomy 22Q13.3
Hair-pulling, Hydronephrosis, Recurrent pyelonephritis, Hyperactivity, Vesicoureteral reflux ORPHA:48652
Rubinstein-Taybi Syndrome 1
Hypospadias, Abnormal fear/anxiety-related behavior, Agoraphobia, Self-mutilation, Hyperactivity,... OMIM:180849
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly OMIM:181000
22Q11.2 Deletion Syndrome
Autoimmunity, Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia ORPHA:567
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Renal hypoplasia, Paroxysmal bursts of laughter, Hyperactivity, Micropenis, Vesicour... OMIM:309580
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Hyperactivity, Blue irides ORPHA:280651
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
8Q24.3 Microdeletion Syndrome
Bilateral renal hypoplasia, Pelvic kidney, Optic nerve hypoplasia, Hyperactivity, Low frustration... ORPHA:508488
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Impaired T cell function OMIM:188400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Il9r

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Il9r.

No publications found that use IMPC mice or data for Il9r.

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MGI Allele Allele Type Produced
Il9rtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il9rem1(IMPC)Mbp Exon Deletion Mice
Il9rtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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