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Gene: Stat4 MGI:103062

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Gene Summary

Name:
signal transducer and activator of transcription 4
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 kidney morphology Stat4em1(IMPC)Mbp HOM Early adult 0.00
small kidney Stat4em1(IMPC)Mbp HOM Early adult 0.00
corneal opacity Stat4em1(IMPC)Mbp HOM Early adult 2.43×10-05

Download data as:  TSV  XLS

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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 Stat4 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.

The table below shows human diseases predicted to be associated to Stat4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity OMIM:614493
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... OMIM:615897
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Dermoids Of Cornea
Corneal opacity OMIM:304730
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumonia, Agamma... OMIM:300400
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections OMIM:235900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... OMIM:613101
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... OMIM:619281
Immunodeficiency 51
Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe... OMIM:613953
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity OMIM:608898
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... OMIM:240500
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c... OMIM:308240
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... OMIM:607594
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Elevated circulating C-reactive protein concentration, Reduce... OMIM:615559
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections OMIM:616941
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis... ORPHA:411593
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity OMIM:612227
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Morquio Syndrome C
Corneal opacity OMIM:252300
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... OMIM:613496
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... ORPHA:98813
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Reduced natural killer cell activity, Incr... OMIM:616050
Immunodeficiency 66
Defective T cell proliferation, Meningitis, Sepsis OMIM:618847
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:243700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... ORPHA:276
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... OMIM:308230
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... ORPHA:83471
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections OMIM:615214
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c... ORPHA:540
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... ORPHA:277
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections, Recurrent... OMIM:615468
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... ORPHA:331206
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Hypouricemia, Impaired T cell function, Increased circulating... OMIM:613179
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... OMIM:147060
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... OMIM:616005
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Recurrent viral infections, Increased circ... OMIM:618048
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma ORPHA:1473
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
Winchester Syndrome
Corneal opacity OMIM:277950
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:444463
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:601859
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... ORPHA:183675
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f... OMIM:603553
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Developmental cataract, Corneal opacity OMIM:618815
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Wiskott-Aldrich Syndrome
Recurrent herpes, Reduced natural killer cell activity, Increased circulating IgA level, Increase... OMIM:301000
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Rec... OMIM:606367
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... OMIM:608233
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:911
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent upper respirato... OMIM:600802
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... ORPHA:48377
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... OMIM:116920
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... OMIM:610163
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Autoimmunity, Increased circulating free fatty acid level, Abnormal circ... ORPHA:293964
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, Th... ORPHA:64744
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Elevated circulating C-rea... ORPHA:85414
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... ORPHA:35078
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233710
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Autoimmunity, Glomerulonephritis, Elevated circulating creatinine concentration, Synov... ORPHA:567544
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,... OMIM:242700
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233690
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Immunodeficiency 23
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... OMIM:615816
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... ORPHA:158061
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Eosinophilopenia
Allergic rhinitis, Autoimmunity OMIM:131430
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Unilateral renal agenesis ORPHA:281090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Recurrent viral infections, Increased circulating IgE level, R... OMIM:102700
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneumonia, Sple... OMIM:618495
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis ORPHA:1064
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Corneal opacity OMIM:166300
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Pgm3-Cdg
Recurrent respiratory infections, Increased circulating IgA level, Recurrent viral infections, In... ORPHA:443811
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Sialidosis Type 2
Nephropathy, Corneal opacity ORPHA:87876
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Ulcerative colitis, Antinuclear antibody posit... ORPHA:562639
Brachyolmia Type 1, Toledo Type
Increased urinary disaccharide excretion, Opacification of the corneal stroma OMIM:271630
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Reduced circulating prolactin concentration, Elevated circulat... ORPHA:99832
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased circulating IgG level, Glucose intolerance, H... ORPHA:2298
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Cystinuria
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis ORPHA:214
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... ORPHA:37042
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating copper concentration, Decreased circulatin... OMIM:300972
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... ORPHA:449400
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Autoimmune t... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Hash... ORPHA:227982
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Omenn Syndrome
Recurrent fungal infections, Recurrent bacterial infections, Hypoproteinemia, Recurrent viral inf... OMIM:603554
Postinfectious Vasculitis
Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration... ORPHA:48435
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... ORPHA:486
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria, Corneal opacity ORPHA:1765
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Bullous Pemphigoid
Psoriasiform dermatitis, Diabetes mellitus, Eczema, Autoimmunity ORPHA:703
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein ... OMIM:613011
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... OMIM:242840
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ... ORPHA:51636
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:306400
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Autoimmunity, Abnormality of the pancreas, Jaundice, Abnormal circulating interleukin ... ORPHA:69665
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Increased tot... ORPHA:90036
Al-Gazali Syndrome
Corneal opacity, Hydronephrosis, Sclerocornea OMIM:609465
Scheie Syndrome
Corneal opacity OMIM:607016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Autoimmunity, Primary adrenal insufficiency, Chronic muc... ORPHA:3453
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
3-Methylglutaconic aciduria, Corneal opacity, Cataract ORPHA:496790
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Corneal opacity, Peters anomaly OMIM:120200
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Increased urinary O-... ORPHA:812
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Fish-Eye Disease
Corneal opacity ORPHA:79292
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hypertriglyceridemia, Recurrent upper respiratory tract infections ORPHA:66628
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Immunodeficiency 21
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... OMIM:614172
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacification of the corneal stroma OMIM:215250
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Portal hypertension, Autoimmunity, Hypersplenism, Anti-thyroid peroxidase antibody p... ORPHA:228426
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Severe varicella zoster infection, Increas... OMIM:618213
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hypertriglyceridemia, Recurrent upper respiratory tract infections ORPHA:179494
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Chédiak-Higashi Syndrome
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... ORPHA:167
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Zellweger Syndrome
Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Brushfield spots, Posterior... ORPHA:912
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Cystinosis
Renal insufficiency, Proteinuria, Corneal opacity, Renal tubular dysfunction, Aminoaciduria, Neph... ORPHA:213
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Impaired T cell function, Recurrent candida infections OMIM:201100
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Elevated circula... OMIM:614576
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Oligosacchariduria ORPHA:309288
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Unilateral renal agenesis, Developmental cataract OMIM:616603
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Corneal opacity, Astigmatism, Vesicoureteral reflux, Micropenis, Hydronephrosis OMIM:301056
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Autoimmunity, Insulin resistance, Insulin... ORPHA:79086
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia... ORPHA:186
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Hypospadias, Corneal opacity ORPHA:2409
Walker-Warburg Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Microcornea, Iris coloboma ORPHA:899
Stromme Syndrome
Cataract, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronephrosis, Peters anomaly, ... OMIM:243605
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Scheie Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93474
Ocular Cystinosis
Corneal crystals ORPHA:411641
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals OMIM:219900
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... ORPHA:3261
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Sepsis, Recurrent bacterial infec... OMIM:617053
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Wagro Syndrome
Aniridia, Cataract, Proteinuria, Corneal opacity OMIM:612469
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Corneal opacity, Horseshoe kidney OMIM:163200
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Autoimmunity, Retroperitoneal fibrosis, Abnormalit... ORPHA:449432
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Iris coloboma, Sclerocornea ORPHA:77298
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity, Cataract ORPHA:585
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Recurrent viral infe... OMIM:619573
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Schimke Immuno-Osseous Dysplasia
Proteinuria, Corneal opacity, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, ... ORPHA:1830
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine OMIM:607015
3Mc Syndrome 3
Micropenis, Corneal opacity, Penoscrotal hypospadias, Horseshoe kidney OMIM:248340
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Sanjad-Sakati Syndrome
Hypoplasia of penis, Astigmatism, Corneal opacity ORPHA:2323
Familial Dysautonomia
Renal insufficiency, Corneal opacity, Corneal erosion, Abnormal pupil morphology, Heterochromia i... ORPHA:1764
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Hypospadias, Anterior chamber synechiae OMIM:601499
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Pelvic kidney, Hydronephrosis OMIM:613001
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae OMIM:615877
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Ureteral stenosis, Corneal opacity, Ocular albinism, Iris hypopigmentation ORPHA:2719
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Mucopolysaccharidosis, Type Ivb
Chondroitin sulfate excretion in urine, Corneal opacity, Keratan sulfate excretion in urine, Opac... OMIM:253010
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Fucosidosis
Mucopolysacchariduria, Corneal opacity ORPHA:349
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent staphylococcal infections... ORPHA:2968
Shwachman-Diamond Syndrome
Recurrent viral infections, Hypoamylasemia, Sepsis, Recurrent bacterial infections, Bone marrow h... ORPHA:811
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity ORPHA:584
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity OMIM:272200
Orotic Aciduria
Impaired T cell function OMIM:258900
Hurler Syndrome
Corneal opacity, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Urinary... OMIM:607014
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Horseshoe kidney, Hypoplasia of th... ORPHA:2092
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Chromomycosis
Recurrent bacterial infections ORPHA:182
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Vesicoureteral reflux, Hydronephrosis ORPHA:2059
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,... ORPHA:542323
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Corneal opacity, Unilateral renal agenesis, Renal cyst, Astigmatism, Micropenis, Pel... ORPHA:464311
Mosaic Trisomy 8
Vesicoureteral reflux, Corneal opacity, Hydronephrosis ORPHA:96061
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Velocardiofacial Syndrome
Hypocalcemia, Impaired T cell function, Recurrent infections OMIM:192430
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop... ORPHA:79078
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia OMIM:232220
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Aminoaciduria, Opacification of the corneal stroma, Polycystic kidney... OMIM:214110
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Corneal opacity, Unilateral renal agenesis, Renal cyst, Astigmatism, Micropenis, Pel... ORPHA:464306
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Mucopolysaccharidosis, Type Vii
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Corneal opacity, Dermata... OMIM:253220
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Pediatric Systemic Lupus Erythematosus
Myositis, Antiphospholipid antibody positivity, Skin rash, Antinuclear antibody positivity, Disco... ORPHA:93552
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Pseudo-Torch Syndrome 1
Renal insufficiency, Cataract, Opacification of the corneal stroma OMIM:251290
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... OMIM:242900
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Severe infection,... ORPHA:544482
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Cataract, Sclerocornea OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Chordee, Peters anomaly, Micropenis, Iris coloboma OMIM:309801
Histiocytoid Cardiomyopathy
Congenital aphakia, Megalocornea, Corneal opacity, Renal cyst ORPHA:137675
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Fabry Disease
Conjunctival telangiectasia, Renal insufficiency, Cataract, Proteinuria, Corneal dystrophy, Corne... ORPHA:324
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Oculocerebrorenal Syndrome Of Lowe
Renal insufficiency, Cataract, Proteinuria, Corneal opacity, Abnormal pupil morphology, Proximal ... ORPHA:534
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Corneal opacity ORPHA:579
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Hematuria, Opacification of the corneal stroma, Corneal neovascul... OMIM:158310
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Heparan sulfate excretion in urine, Mucopolysacchariduria, Urinary gly... ORPHA:581
Carpenter Syndrome 1
Microcornea, Hydroureter, Hydronephrosis, Opacification of the corneal stroma OMIM:201000
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Corneal opacity ORPHA:488632
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Corneal dystrophy, Corneal opacity, Renal cyst, Buphthalmos, Keratoconjunctivitis sicca ORPHA:495875
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Hypoalbuminemia, Polyclonal elevation of IgM ORPHA:171
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity, Oligosacchariduria ORPHA:309282
Hurler Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93473
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity ORPHA:464
Lathosterolosis
Hypoplasia of penis, Cataract, Horseshoe kidney, Microcornea, Opacification of the corneal stroma ORPHA:46059
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Heparan sulfate excretion in urine, 3-Methylglutaconic aciduria, Chondroitin sul... OMIM:615273
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Cataract, Corneal opacity ORPHA:1052
Proboscis Lateralis
Cataract, Corneal opacity, Unilateral renal agenesis, Ureteral agenesis, Duplication of renal pel... ORPHA:141099
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Hypospadias, Brushfield spots, Albuminuria, Aminoaciduria, Opacification of the corneal... OMIM:214100
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Opacification of the corneal stroma ORPHA:583
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cataract, Corneal opacity, Horseshoe kidney, Vesicoureteral reflux OMIM:274000
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hypoplasia of the iris, ... OMIM:251300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Recurrent bacterial infections, Hyperuricemia, Hypercholest... ORPHA:79259
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Corneal opacity, Corneal erosion ORPHA:920
Kindler Epidermolysis Bullosa
Urethral stricture, Corneal opacity, Phimosis, Neoplasm of the urethra, Conjunctivitis ORPHA:2908
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Sclerocornea, Microcornea, Urethral... ORPHA:564
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Opacification of the corneal stroma, Micropenis, Penile hypospa... ORPHA:1692
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Mucopolysaccharidosis, Type Vi
Corneal opacity, Dermatan sulfate excretion in urine OMIM:253200
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Corneal opacity, Sclerocornea, Epispadias, Posterior embr... ORPHA:2556
Chime Syndrome
Corneal opacity, Hydronephrosis ORPHA:3474
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Kayse... OMIM:277900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Moebius Syndrome
Corneal opacity ORPHA:570
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Opacification of the ... OMIM:253000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hypospadias, Brushfield spots, Renal cyst, Polycystic kidney dysplasia, Opacification o... OMIM:614866
Williams Syndrome
Hypoplasia of penis, Renal insufficiency, Proteinuria, Flat cornea, Cataract, Corneal opacity, Po... ORPHA:904
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Micro... ORPHA:709
Oculoectodermal Syndrome
Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Bladder exstrophy OMIM:600268
Microphthalmia, Syndromic 3
Micropenis, Cataract, Hypospadias, Sclerocornea OMIM:206900
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Autosomal Dominant Cutis Laxa
Corneal opacity, Unilateral renal agenesis, Developmental cataract, Pyelonephritis, Bladder diver... ORPHA:90348
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Hydronephr... ORPHA:2273
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cataract, Sclerocornea, Ureterope... ORPHA:818
Fraser Syndrome 1
Micropenis, Hypospadias, Renal hypoplasia, Corneal opacity OMIM:219000
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Larsen Syndrome
Corneal opacity OMIM:150250
Tangier Disease
Corneal opacity ORPHA:31150
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Ent... ORPHA:85408
Mucopolysaccharidosis Type 2, Severe Form
Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine ORPHA:217085
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Keratoconjunctivitis, Opacification of the corneal stroma, Abnormal p... ORPHA:2907
Mucopolysaccharidosis Type 2, Attenuated Form
Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine ORPHA:217093
Bartsocas-Papas Syndrome 1
Ectopic kidney, Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Micropenis, ... OMIM:263650
Systemic Lupus Erythematosus
Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/SS-B antibody posit... ORPHA:536
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Osteogenesis Imperfecta
Hypercalciuria, Corneal opacity, Nephrolithiasis ORPHA:666
Neurocardiofaciodigital Syndrome
Vesicoureteral reflux, Cataract, Sclerocornea OMIM:619869
Wolf-Hirschhorn Syndrome
Megalocornea, Hypospadias, Iris coloboma, Sclerocornea ORPHA:280
Gaucher Disease
Hematuria, Proteinuria, Corneal opacity ORPHA:355
Neurofibromatosis Type 1
Corneal opacity, Cataract, Heterochromia iridis, Lisch nodules ORPHA:636
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Megalocornea, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Aminoaciduria, Opacification of the corneal str... ORPHA:910
Lathosterolosis
Opacification of the corneal stroma, Cataract, Horseshoe kidney OMIM:607330
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Developmental cataract, Microcornea, Hypoplasia of the iris, Op... OMIM:133540
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Wiedemann-Rautenstrauch Syndrome
Cataract, Hypospadias, Corneal opacity, Wide penis, Vesicoureteral reflux, Dilatation of renal ca... ORPHA:3455
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Roberts-Sc Phocomelia Syndrome
Cataract, Hypospadias, Corneal opacity, Long penis, Horseshoe kidney, Polycystic kidney dysplasia... OMIM:268300
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal cyst, Opacification of the corneal stroma, Hydronephrosis OMIM:229850
Cockayne Syndrome A
Renal insufficiency, Cataract, Proteinuria, Opacification of the corneal stroma, Micropenis OMIM:216400
Digeorge Syndrome
Impaired T cell function, Recurrent pneumonia, Recurrent infections, Hypocalcemia, Recurrent sinu... OMIM:188400
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Yunis-Varon Syndrome
Cataract, Hypospadias, Sclerocornea, Renovascular hypertension, Renal artery stenosis, Micropenis ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Opacification of the corneal stroma OMIM:615287
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Microphthalmia, Syndromic 6
Microcornea, Renal hypoplasia, Sclerocornea OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Keratitis, Recurrent cornea... OMIM:308205
Yunis-Varon Syndrome
Micropenis, Cataract, Hypospadias, Sclerocornea OMIM:216340
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... ORPHA:117

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 Stat4

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 Stat4.

No publications found that use IMPC mice or data for Stat4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Stat4em1(IMPC)Mbp Exon Deletion Mice
Stat4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stat4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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