Gene Summary

Name:
signal transducer and activator of transcription 4
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 kidney morphology Stat4em1(IMPC)Mbp HOM Early adult 0.00
corneal opacity Stat4em1(IMPC)Mbp HOM Early adult 3.18×10-05
small kidney Stat4em1(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 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 associated to Stat4 by orthology or direct annotation.

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 protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... OMIM:613501
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Immunodeficiency 20
Recurrent oral herpes, Severe varicella zoster infection, Reduced natural killer cell activity, R... OMIM:615707
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... OMIM:615615
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, 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
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... OMIM:300400
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
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, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent upper respiratory tract infections, Recur... OMIM:613101
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections OMIM:235900
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Candida esophagitis, Decreased ... OMIM:619281
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hypertriglyceridemia OMIM:608898
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections OMIM:615214
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... OMIM:613953
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating antibody level, Decreased circulating IgG l... OMIM:193670
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Elevated circulating C-reactive protein concentration, Severe Ep... OMIM:308240
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media OMIM:616941
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Impaired Ig cl... OMIM:608184
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:209920
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abse... OMIM:615559
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia... ORPHA:411593
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Autoimmunity, Diabetes mellitus OMIM:612227
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Severe varicella zoster infection, Decreas... OMIM:300853
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Morquio Syndrome C
Corneal opacity OMIM:252300
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... OMIM:137100
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... OMIM:615008
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Galactosialidosis
Corneal opacity ORPHA:351
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Immunodeficiency 66
Meningitis, Sepsis, Defective T cell proliferation OMIM:618847
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Recurrent pro... ORPHA:572
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Inc... OMIM:243700
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot process effacem... OMIM:617006
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... OMIM:615573
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Re... ORPHA:54370
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Recurrent upper respiratory tract infections, Recurrent opportunistic in... ORPHA:277
Thymic Aplasia
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Recurren... ORPHA:83471
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis OMIM:216950
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:331206
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:616005
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating inosine concentr... OMIM:613179
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocytopenia, Hepatitis, Autoimmunity,... ORPHA:444463
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... OMIM:147060
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Abnormal ... OMIM:618048
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Hematuria, Iris coloboma, Cataract ORPHA:1473
Winchester Syndrome
Corneal opacity OMIM:277950
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Hypoalbuminemi... ORPHA:84090
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
C1Q Deficiency
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity OMIM:613652
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Elevated circu... OMIM:619632
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... OMIM:619155
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, A... ORPHA:90280
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Pulmonar... ORPHA:183675
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Reduced natural killer cell activi... OMIM:603553
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Developmental cataract, Micropenis OMIM:618815
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent bacterial infections, Reduced natural killer cell activity, I... OMIM:608233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612925
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Hyperthyroidism, Rhe... ORPHA:48377
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Hypocalcemia, Euthyroid goiter, Graves disease,... ORPHA:64744
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... ORPHA:911
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Complete or near-complete abs... OMIM:610163
Leukocyte Adhesion Deficiency, Type I
Elevated circulating C-reactive protein concentration, Recurrent bacterial infections, Recurrent ... OMIM:116920
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612926
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Opacification of the corneal stroma, Proteinuria OMIM:245900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612922
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, Splenomegaly, Juv... ORPHA:85414
Immunodeficiency 31C
Eczema, Hypothyroidism, Chronic mucocutaneous candidiasis, Autoimmunity, Delayed puberty, Diabete... OMIM:614162
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Intersti... OMIM:615952
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Hyperuricemia... ORPHA:411536
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris, Vesicoureteral reflux ORPHA:137902
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233710
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Mucopolysacchariduria OMIM:252700
Type 1 Diabetes Mellitus
Hyperglycemia, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Omenn Syndrome
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Hypoprot... OMIM:603554
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensitivity, Recurrent pneu... OMIM:242700
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233690
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:158061
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, Absent specific antibody response, ... OMIM:102700
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Eosinophilopenia
Allergic rhinitis, Autoimmunity OMIM:131430
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Corneal opacity, Renal insufficiency ORPHA:281090
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Increased circulating IgG level, ... OMIM:618495
Immunodeficiency 23
Increased circulating IgG level, Severe varicella zoster infection, Recurrent staphylococcal infe... OMIM:615816
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... OMIM:610984
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal i... ORPHA:93599
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis media OMIM:617475
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Pgm3-Cdg
Recurrent fungal infections, Increased circulating IgA level, Sepsis, Recurrent bacterial infecti... ORPHA:443811
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Liver kidney microsome type 1 antibody positivity, Hyperbilirubinemia,... ORPHA:562639
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Corneal opacity, Developmental cataract OMIM:616603
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... ORPHA:79233
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis, Autoimmunity, Autoimmune th... OMIM:614470
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Sialidosis Type 2
Corneal opacity, Nephropathy ORPHA:87876
Brachyolmia Type 1, Toledo Type
Increased urinary disaccharide excretion, Opacification of the corneal stroma OMIM:271630
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Autoimmunity, P... OMIM:618398
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase antibody positivity, Anti-... ORPHA:37042
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia OMIM:300323
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Anti... ORPHA:449400
Cystinuria
Nephrolithiasis, Hematuria, Hyperuricemia, Renal insufficiency ORPHA:214
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:300972
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Aut... ORPHA:231154
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... ORPHA:91354
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Abnormal circulating interleukin concentration, Uveitis, Au... ORPHA:85410
Bullous Pemphigoid
Eczema, Autoimmunity, Psoriasiform dermatitis, Diabetes mellitus ORPHA:703
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Sjogren Syndrome
Rheumatoid arthritis, Xerostomia, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctiviti... OMIM:270150
Immunodeficiency 58
Onychomycosis, Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decre... OMIM:618131
Postinfectious Vasculitis
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... ORPHA:48435
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Graves disease, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Aut... ORPHA:227982
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity, Nephropathy, Hematuria, Proteinuria ORPHA:1765
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Mixed-Type Autoimmune Hemolytic Anemia
Systemic lupus erythematosus, Skin rash, Increased total bilirubin, Autoimmunity, Autoimmune hemo... ORPHA:90036
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Hypouricemia, Renal, 1
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... OMIM:220150
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Whim Syndrome
Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... ORPHA:51636
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent ear ... ORPHA:486
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Rhe... ORPHA:227990
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:306400
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positiv... ORPHA:228426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Scheie Syndrome
Corneal opacity OMIM:607016
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity, Vesicoureteral reflux OMIM:120200
Al-Gazali Syndrome
Corneal opacity, Hydronephrosis, Sclerocornea OMIM:609465
Sialidosis Type 1
Corneal opacity, Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urina... ORPHA:812
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Fish-Eye Disease
Corneal opacity ORPHA:79292
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Alpha-Mannosidosis
Corneal opacity, Cataract ORPHA:61
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Pemphigus Erythematosus
Systemic lupus erythematosus, Autoimmunity, Malar rash, Antinuclear antibody positivity, Anti-ace... ORPHA:79480
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Opacification of the corneal stroma, Proteinuria OMIM:215250
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:66628
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, 3-Methylglutaconic aciduria, Cataract ORPHA:496790
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Hypoproteinemi... ORPHA:167
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:179494
Zellweger Syndrome
Corneal opacity, Hypospadias, Multicystic kidney dysplasia, Posterior embryotoxon, Cataract, Brus... ORPHA:912
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Cystinosis
Renal tubular dysfunction, Corneal opacity, Aminoaciduria, Nephropathy, Proteinuria, Renal insuff... ORPHA:213
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... ORPHA:137596
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Candida esophagitis, Increased circulating IgG level, Severe vari... OMIM:618213
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function, Decreased serum zinc OMIM:201100
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Insulin resistance, Cir... ORPHA:79086
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Recurrent infections, Impaired T cell func... OMIM:614576
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Increased circulating IgA level, Abnormal circulating lipid con... ORPHA:186
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract, Oligosacchariduria ORPHA:309288
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
8Q21.11 Microdeletion Syndrome
Corneal opacity, Hypoplasia of penis, Iris hypopigmentation, Cataract, Sclerocornea ORPHA:284160
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Rheumatoid factor positive, Hypersplenism, Uveitis, Increased circulatin... ORPHA:3261
Lowry-Maclean Syndrome
Hypospadias, Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Micropenis, Hypospadias, Astigmatism, Hydronephrosis, Vesicoureteral reflux OMIM:301056
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Hydronephrosis, Pel... OMIM:613001
Scheie Syndrome
Corneal opacity, Mucopolysacchariduria ORPHA:93474
Walker-Warburg Syndrome
Corneal opacity, Hypoplasia of penis, Microcornea, Iris coloboma, Cataract ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Opacification of the corneal stroma, Hydronephrosis, Micropenis OMIM:615287
Stromme Syndrome
Bilateral renal hypoplasia, Microcornea, Peters anomaly, Iris coloboma, Cataract, Hydronephrosis,... OMIM:243605
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Prostatitis, Ab... ORPHA:449432
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Proteinuria, Aniridia OMIM:612469
Ocular Cystinosis
Corneal crystals ORPHA:411641
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased circulating antibody level, Increased LDL... ORPHA:470
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals OMIM:219900
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections, Hyponatremia, Hyperka... OMIM:617053
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Multiple Sulfatase Deficiency
Corneal opacity, Cataract, Mucopolysacchariduria ORPHA:585
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Corneal opacity, Horseshoe kidney OMIM:163200
Gamma-Heavy Chain Disease
Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimm... ORPHA:100026
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Iris coloboma, Hypoplasia of penis, Sclerocornea ORPHA:77298
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections... OMIM:214500
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Nephrotic range proteinuria, Nephropathy, Focal segmental glomerulosclerosis, Pr... ORPHA:1830
Immunodeficiency 22
Autoimmunity, Panniculitis OMIM:615758
Hurler-Scheie Syndrome
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine OMIM:607015
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
3Mc Syndrome 3
Penoscrotal hypospadias, Corneal opacity, Horseshoe kidney, Micropenis OMIM:248340
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Recurrent fungal infections, ... OMIM:619573
Sanjad-Sakati Syndrome
Corneal opacity, Hypoplasia of penis, Astigmatism ORPHA:2323
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Ocular albinism, Ureteral stenosis, Iris hypopigmentation, Cataract ORPHA:2719
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Renal insufficiency OMIM:113470
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Recu... ORPHA:2968
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Renal insufficiency, Corneal erosion, Heterochromia i... ORPHA:1764
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Elevated circulating creatine kinase concentration, Hypoproteinemia OMIM:615895
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Congenital Sialidosis Type 2
Corneal opacity, Cataract, Developmental cataract ORPHA:93400
Juvenile Sialidosis Type 2
Corneal opacity, Cataract ORPHA:93399
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Ectopia pupillae, Microcornea, Cataract, Sclerocornea OMIM:615877
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... ORPHA:85436
Fucosidosis
Corneal opacity, Mucopolysacchariduria ORPHA:349
Shwachman-Diamond Syndrome
Hypoamylasemia, Sepsis, Recurrent bacterial infections, Impaired neutrophil chemotaxis, Bone marr... ORPHA:811
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mucopolysaccharidosis Type 7
Corneal opacity, Mucopolysacchariduria ORPHA:584
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Multiple Sulfatase Deficiency
Corneal opacity, Mucopolysacchariduria OMIM:272200
Mosaic Trisomy 9
Corneal opacity, Hypoplasia of penis, Multiple renal cysts, Horseshoe kidney, Hydronephrosis ORPHA:99776
Hurler Syndrome
Corneal opacity, Dermatan sulfate excretion in urine, Opacification of the corneal stroma, Hepara... OMIM:607014
Focal Dermal Hypoplasia
Corneal opacity, Multicystic kidney dysplasia, Iris coloboma, Hypoplasia of the iris, Horseshoe k... ORPHA:2092
Chromomycosis
Recurrent bacterial infections ORPHA:182
Fryns Syndrome
Corneal opacity, Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Vesicoureteral reflux ORPHA:2059
Mucopolysaccharidosis, Type Vii
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine, Urinary... OMIM:253220
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi... OMIM:612541
Orotic Aciduria
Impaired T cell function OMIM:258900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... ORPHA:542323
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Antinuclear antibody positivity, Myositis, Abnormal ... ORPHA:79078
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Mosaic Trisomy 8
Corneal opacity, Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Renal cyst, Cataract, Brushfield spots, Renal cortical micro... OMIM:614866
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Micropenis, Unilateral renal agenesis, Hypospadias, Astigmatism, Renal cyst, Hyd... ORPHA:464311
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Unilateral renal agenesis, Multicystic kidney dysplasia, Opacification of the corneal ... OMIM:308205
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Mucopolysaccharidosis Type 4
Corneal opacity, Mucopolysacchariduria ORPHA:582
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Cataract, Aniridia ORPHA:251038
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Opacification of the corneal stroma, Polycystic kidney dysplasia, Cataract, Brushf... OMIM:214110
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia OMIM:232220
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryotoxon, Peters anomaly, Ocu... OMIM:612582
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Micropenis, Unilateral renal agenesis, Hypospadias, Astigmatism, Renal cyst, Hyd... ORPHA:464306
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis... ORPHA:93552
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Hematuria,... OMIM:158310
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections, Hypocalcemia OMIM:192430
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Opacification of the corneal stroma, Astigmatism, Focal segmental glomerulosc... OMIM:242900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract OMIM:236670
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract, Renal insufficiency OMIM:251290
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Micropenis OMIM:614230
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Hypocalcemia, Severe infection, Brain abscess,... ORPHA:544482
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Histiocytoid Cardiomyopathy
Renal cyst, Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Mucopolysaccharidosis Type 1
Corneal opacity, Mucopolysacchariduria ORPHA:579
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Renal hypophosphatemia, Autoimmunity, Hypercalcemia, Hypermagnesemia, Infantile hyp... ORPHA:405