GCD1
MCID: GRN024
MIFTS: 20

Groenouw Type I Corneal Dystrophy (GCD1) malady

Eye diseases category

Summaries for Groenouw Type I Corneal Dystrophy

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Sources:
46OMIM, 32MalaCards
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MalaCards: Groenouw Type I Corneal Dystrophy, also known as cdgg1, is related to keratoconus and recurrent corneal erosion. An important gene associated with Groenouw Type I Corneal Dystrophy is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

Description from OMIM:46 121900

Aliases & Classifications for Groenouw Type I Corneal Dystrophy

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
classic granular corneal dystrophy:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Childhood


Aliases & Descriptions:

groenouw type i corneal dystrophy 42 22
cdgg1 42 44
corneal dystrophy punctate or nodular 42
classic granular corneal dystrophy 48
corneal dystrophy, groenouw type i 46
granular corneal dystrophy type i 48
corneal dystrophy groenouw type i 48
granular corneal dystrophy type 1 48
groenouw corneal dystrophy type i 60
corneal dystrophy granular type 42
granular dystrophy, corneal 60
corneal granular dystrophy 10
granular dystrophy corneal 44
classic gcd 48
gcdi 48
gcd1 48


External Ids:

OMIM46 121900
ICD10 via Orphanet26 H18.5

Related Diseases for Groenouw Type I Corneal Dystrophy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Groenouw Type I Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1keratoconus10.3
2recurrent corneal erosion10.3
3corneal deposit10.3

Clinical Features for Groenouw Type I Corneal Dystrophy

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Sources:
46OMIM
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Clinical features from OMIM:

121900

Clinical synopsis from OMIM:

121900

Drugs & Therapeutics for Groenouw Type I Corneal Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Groenouw Type I Corneal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Groenouw Type I Corneal Dystrophy

Search NIH Clinical Center for Groenouw Type I Corneal Dystrophy

Search CenterWatch for Groenouw Type I Corneal Dystrophy

Genetic Tests for Groenouw Type I Corneal Dystrophy

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22GTR
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Genetic tests related to Groenouw Type I Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Groenouw Corneal Dystrophy Type I22

Anatomical Context for Groenouw Type I Corneal Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Groenouw Type I Corneal Dystrophy:

32
Eye

Animal Models for Groenouw Type I Corneal Dystrophy or affiliated genes

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Publications for Groenouw Type I Corneal Dystrophy

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Genetic Variations for Groenouw Type I Corneal Dystrophy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Groenouw Type I Corneal Dystrophy:

62
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555TrpVAR_005083
2TGFBIp.Arg124SerVAR_012444

Expression for genes affiliated with Groenouw Type I Corneal Dystrophy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Groenouw Type I Corneal Dystrophy

Search GEO for disease gene expression data for Groenouw Type I Corneal Dystrophy.

Pathways for genes affiliated with Groenouw Type I Corneal Dystrophy

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Compounds for genes affiliated with Groenouw Type I Corneal Dystrophy

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GO Terms for genes affiliated with Groenouw Type I Corneal Dystrophy

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Products for genes affiliated with Groenouw Type I Corneal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Groenouw Type I Corneal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet