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Gene: Tgfbi MGI:99959

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
transforming growth factor, beta induced
Synonyms:
Beta-ig,  68kDa,  bIG-h3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Tgfbi 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 Tgfbi by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Galactosialidosis
Corneal opacity ORPHA:351
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:610021
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Winchester Syndrome
Corneal opacity OMIM:277950
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Bazex Syndrome
Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Cataract 47
Cataract, Microcornea OMIM:612018
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp... ORPHA:66661
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea OMIM:617272
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B-cell lymphoma, Lymphad... OMIM:619164
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... OMIM:619126
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, H... OMIM:614470
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell cou... OMIM:618982
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci... ORPHA:86893
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Short stature, Jaundice ORPHA:172
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology ORPHA:2023
Blue Cone Monochromatism
Corneal dystrophy ORPHA:16
Immunodeficiency 84
Perianal abscess, B-cell lymphoma, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Recurrent respiratory infections, Decreased CD4:CD8 ratio, Decreased proportion of CD4-... OMIM:300853
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Recurrent respiratory infections, Postnatal... OMIM:609981
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... ORPHA:158057
Desmoplastic Small Round Cell Tumor
Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peri... ORPHA:83469
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Immunodeficiency 48
Pneumonia, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transforma... OMIM:269840
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes... ORPHA:79230
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Immunodeficiency 104
Pneumonia, Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, He... OMIM:608971
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased body weight, Weight loss, Lung adenocarcinoma ORPHA:1501
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Follicular Lymphoma
Lymphoma, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morph... ORPHA:545
Legius Syndrome
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... ORPHA:137605
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Growth delay ORPHA:100025
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Immunodeficiency 36 With Lymphoproliferation
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... OMIM:616005
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Hodgkin lymphoma, Absent circulating B cells, Ge... OMIM:620282
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Recurrent respiratory infections OMIM:613495
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Maffucci Syndrome
Pituitary adenoma, Growth delay, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcin... ORPHA:163634
Ollier Disease
Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomat... ORPHA:296
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Fish-Eye Disease
Corneal opacity ORPHA:79292
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Lymphoma, Splenomegaly, Lymphadenopathy, B l... ORPHA:397596
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... ORPHA:3261
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Ocular Cystinosis
Corneal crystals ORPHA:411641
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Recurrent pneumonia, Lymphoma, Neoplasm, Recurrent bronchitis, Splenomegal... OMIM:240500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop... OMIM:619220
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respiratory tract infection, L... ORPHA:444463
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... OMIM:619375
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegal... OMIM:619824
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Splenomegaly, Hepatic steatosis, Hepatomegaly, Short stature OMIM:614480
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell... OMIM:308240
Gray Platelet Syndrome
Myelodysplasia, Splenomegaly, Thrombocytopenia ORPHA:721
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Recurrent sinusitis, I... ORPHA:98813
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Anemia, Lymphadenopathy, Thrombocytopenia, Renal neoplasm, Sa... ORPHA:69077
Galactose Epimerase Deficiency
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Weight loss, Lymphadenopathy, Hepa... ORPHA:391
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... OMIM:607616
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Splenomegaly... OMIM:618963
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity OMIM:152950
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... ORPHA:137599
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
Sialidosis Type 2
Corneal opacity ORPHA:87876
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa... OMIM:615122
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Hepatocellular ... OMIM:613490
Immunodeficiency 115 With Autoinflammation
Verrucae, Intestinal lymphangiectasia, Postnatal growth retardation, Splenomegaly, Decreased prop... OMIM:620632
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Lymphopenia, Abnormal B cell count, Decre... OMIM:615615
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, B lymphocytopenia, Myelo... OMIM:614172
Caspase 8 Deficiency
Pneumonia, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary infe... OMIM:607271
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Classic Mycosis Fungoides
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:2584
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia ORPHA:276608
Immunodeficiency, Common Variable, 1
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Splenomegaly, Recurrent bronchitis, Recurr... OMIM:607594
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Dermatomyositis
Abnormal eosinophil morphology, Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma ... ORPHA:221
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Hepatomegaly, C... OMIM:601847
Schnitzler Syndrome
Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Thromboc... OMIM:209950
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,... OMIM:615631
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Weight loss, Neutroph... ORPHA:98849
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... ORPHA:3318
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Failure to thrive, Splenomegaly, Hepatomegaly, Acholic stools, Short stature, Ja... OMIM:619868
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphocyti... OMIM:618495
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomegaly, Hepatomegaly, Short stature,... OMIM:620210
Lcat Deficiency
Corneal opacity ORPHA:650
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 32B
Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia,... OMIM:226990
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Yellow Nail Syndrome
Biliary tract neoplasm, Recurrent respiratory infections, Neoplasm, Hypoplasia of lymphatic vesse... ORPHA:662
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Neoplasm, Splenomegaly, Hepatom... ORPHA:2930
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,... OMIM:150550
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Recurrent sinusitis, Decreased proportion of class-... OMIM:613493
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Omenn Syndrome
Pneumonia, Failure to thrive, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegal... ORPHA:39041
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Lymphoma, Recurrent respirator... OMIM:614700
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Lymphoma, Abnormal lymphocyte morphology, Splen... ORPHA:47612
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,... OMIM:615387
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Sézary Syndrome
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Abnormal pleura morphology, Splen... ORPHA:3162
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Common Variable Immunodeficiency
Pneumonia, Lymphoma, Failure to thrive in infancy, Lymphopenia, Emphysema, Abnormality of the liv... ORPHA:1572
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Pfapa Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Recurrent pharyngitis, Hepatomegaly ORPHA:42642
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Decreased body weight, Hepatomegaly, Thrombocytopenia, Short stature OMIM:231000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... ORPHA:2133
Hepatic Lipase Deficiency
Corneal arcus OMIM:614025
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Excessive insulin response to glucagon test, Hyperinsulinem... ORPHA:276556
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... ORPHA:100026
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Abnormal lymph node morpholog... ORPHA:99889
Scheie Syndrome
Corneal opacity ORPHA:93474
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ane... OMIM:617388
Scheie Syndrome
Corneal opacity OMIM:607016
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphop... OMIM:618935
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Omenn Syndrome
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepat... OMIM:603554
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Aredyld Syndrome
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Cachexia, Short stature, Refractory ... ORPHA:1133
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re... OMIM:224120
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas... ORPHA:331206
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemi... OMIM:615234
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Hepatomegaly, Recurrent respiratory infections, Aut... OMIM:613496
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Failure to thrive, Cholestasis, Hepatosplenomegaly, Intrauterine growth retarda... OMIM:620376
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Growth delay, Ascites, Hepatosplenomegaly, Pancytopenia, Hype... ORPHA:77259
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Pneumonia, Recurrent upper respiratory tract infections, Lymphoma, Autoimmune hemolytic anemia, S... ORPHA:436159
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis, ... ORPHA:71493
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Wagro Syndrome
Cataract, Aniridia, Corneal opacity OMIM:612469
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar... OMIM:617827
Ataxia-Telangiectasia
Failure to thrive, Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Ab... OMIM:208900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Growth delay ORPHA:75233
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Zellweger Syndrome
Cataract, Posterior embryotoxon, Brushfield spots, Corneal opacity ORPHA:912
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat... ORPHA:90033
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Cystinosis
Corneal opacity ORPHA:213
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Lymphoma, Lymphopenia... OMIM:613179
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Subcutaneous panniculitis-like T-cell lymphoma OMIM:618398
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Sple... OMIM:102700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity ORPHA:1764
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Transaldolase Deficiency
Hepatic fibrosis, Failure to thrive, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, In... OMIM:606003
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Recurrent sinopulmonary infec... OMIM:618394
Fucosidosis
Corneal opacity ORPHA:349
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmo... OMIM:230800
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Immunodeficiency 10
Recurrent pneumonia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lympha... OMIM:612783
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Hepatomegal... OMIM:612387
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Hepatomegaly, Cirrhosis, Intrahepatic cholestasi... OMIM:211600
Dominant Beta-Thalassemia
Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o... ORPHA:231226
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... ORPHA:729
Mucolipidosis Type Iii Alpha/Beta
Corneal opacity ORPHA:423461
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen content, Hyperhid... ORPHA:263455
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... ORPHA:231222
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Failure to thrive, Increased he... OMIM:278000
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Beta-Thalassemia Major
Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o... ORPHA:231214
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... OMIM:266200
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity ORPHA:2719
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Acromesomelic Dysplasia, Grebe Type
Sarcoma, Disproportionate short-limb short stature ORPHA:2098
Glycogen Storage Disease Ixc
Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepato... OMIM:613027
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Growth delay, Failure to thrive, Cholestasis, Splenomegaly, He... ORPHA:264580
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Cholestasis, Hyperinsulinemia, Pancreatic islet-cell hyperp... OMIM:246200
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Opac... OMIM:612582
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy... ORPHA:464329
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... OMIM:620296
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumula... OMIM:618042
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos OMIM:236670
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
3Mc Syndrome 3
Corneal opacity OMIM:248340
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly, Lymphade... ORPHA:457077
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Intraalveolar phospholipid accumulation, Hepatitis, Intrauterine growth retardation... OMIM:620565
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Failure to thrive, Lymphopenia, Hepatosplenomegaly,... OMIM:612541
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Weight loss, Delayed pubert... OMIM:614162
Syndromic Diarrhea
Hepatic fibrosis, Peripheral pulmonary artery stenosis, Lymphopenia, Intrauterine growth retardat... ORPHA:84064
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Budd-Chiari Syndrome
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Weight loss, Cirrhosis, H... ORPHA:131
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Spherocytosis, Splenomegaly ORPHA:66518
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Failure to thrive, Hepatitis, Splenomegaly, ... OMIM:613812
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Lymphadenopa... OMIM:260920
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, Cataract OMIM:158310
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic ... ORPHA:96123
Neurofibromatosis Type 1
Neoplasm of the skin, Multiple lipomas, Leukemia, Sarcoma, Plexiform neurofibroma, Astrocytoma, C... ORPHA:636
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Incontinentia Pigmenti
Cataract, Keratitis, Corneal opacity ORPHA:464
Fryns Syndrome
Corneal opacity ORPHA:2059
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co... ORPHA:288
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract OMIM:614230
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes... OMIM:226980
Hurler Syndrome
Corneal opacity ORPHA:93473
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Moebius Syndrome
Corneal opacity ORPHA:570
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Sotos Syndrome
Small cell lung carcinoma, Neoplasm, Cholesteatoma, Astrocytoma, Hemangioma, Neuroblastoma, Prolo... ORPHA:821
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Fabry Disease
Cataract, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Corneal dystrophy ORPHA:324
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Ascites, Hepatosplenomegaly, Pleural ef... ORPHA:171
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity ORPHA:309282
Mucopolysaccharidosis Type 3
Cataract, Opacification of the corneal stroma, Corneal opacity ORPHA:581
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Tangier Disease
Corneal opacity ORPHA:31150
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Megalocornea ORPHA:536471
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Cataract, Iris coloboma, Peters anomaly OMIM:309801
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal dystrophy, Corneal opacity ORPHA:495875
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism OMIM:242900
Phace Syndrome
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma ORPHA:42775
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Reduced natural killer cell count, Bronchitis, Hepatitis, Decreased proportion of naiv... OMIM:619381
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Larsen Syndrome
Corneal opacity OMIM:150250
Oculoectodermal Syndrome
Microcornea, Opacification of the corneal stroma, Limbal dermoid, Astigmatism OMIM:600268
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Chime Syndrome
Corneal opacity ORPHA:3474
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Buphthalmos ORPHA:534
Microphthalmia With Linear Skin Defects Syndrome
Sclerocornea, Posterior embryotoxon, Corneal opacity ORPHA:2556
Proboscis Lateralis
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:141099
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hypersplenism, Interstitial pneumonitis, Splenomegaly, Hepatomegaly, Neoplasm of ... ORPHA:77293
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214100
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract OMIM:619869
Microphthalmia, Syndromic 3
Sclerocornea, Cataract OMIM:206900
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:251300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Meckel Syndrome
Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Pancreatic hypoplasia ORPHA:99885
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae ORPHA:709
Tyrosinemia, Type I
Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma OMIM:276700
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion ORPHA:2273
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification OMIM:215140
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Autosomal Dominant Cutis Laxa
Developmental cataract, Corneal opacity ORPHA:90348
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:614866
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Wolf-Hirschhorn Syndrome
Sclerocornea, Iris coloboma, Megalocornea ORPHA:280
Xeroderma Pigmentosum
Cataract, Keratitis, Pterygium, Conjunctival telangiectasia, Opacification of the corneal stroma ORPHA:910
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Smith-Lemli-Opitz Syndrome
Sclerocornea, Cataract, Iris coloboma ORPHA:818
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Williams Syndrome
Cataract, Megalocornea, Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Blue irides, Corne... ORPHA:904
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Gaucher Disease
Corneal opacity ORPHA:355
Fraser Syndrome 1
Corneal opacity OMIM:219000
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Opacification of the corneal stroma, Corneal ... OMIM:263650
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Megalocornea OMIM:252500
Perlman Syndrome
Pancreatic islet-cell hyperplasia OMIM:267000
Cockayne Syndrome B
Microcornea, Opacification of the corneal stroma, Developmental cataract, Hypoplasia of the iris OMIM:133540
Simpson-Golabi-Behmel Syndrome
Polysplenia, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatoblastoma, Hepatomegaly ORPHA:373
Wilson Disease
Sunflower cataract, Kayser-Fleischer ring OMIM:277900
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Yunis-Varon Syndrome
Sclerocornea, Cataract ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon OMIM:188400
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Simpson-Golabi-Behmel Syndrome, Type 1
Polysplenia, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatoblastoma, Hepatomegaly OMIM:312870
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Opacification of the corneal stroma, Keratitis, Corneal neovasculariz... OMIM:308205
Yunis-Varon Syndrome
Sclerocornea, Cataract OMIM:216340

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 Tgfbi

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 Tgfbi.

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

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MGI Allele Allele Type Produced
Tgfbitm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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