GCD1
MCID: GRN024
MIFTS: 13

Groenouw Type I Corneal Dystrophy (GCD1) malady

Eye category

Summaries for Groenouw Type I Corneal Dystrophy

Sources:
47OMIM, 33MalaCards
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MalaCards: Groenouw Type I Corneal Dystrophy, also known as cdgg1, is related to recurrent corneal erosion. An important gene associated with Groenouw Type I Corneal Dystrophy is TGFBI (transforming growth factor, beta-induced, 68kDa).

Description from OMIM:47 121900

Aliases & Classifications for Groenouw Type I Corneal Dystrophy

Sources:
10DISEASES, 43NIH Rare Diseases, 22GTR, 45Novoseek, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
classic granular corneal dystrophy:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Childhood


Aliases & Descriptions:

groenouw type i corneal dystrophy 43 22
cdgg1 43 45
corneal dystrophy punctate or nodular 43
corneal dystrophy, groenouw type i 47
classic granular corneal dystrophy 49
granular corneal dystrophy type i 49
corneal dystrophy groenouw type i 49
granular corneal dystrophy type 1 49
groenouw corneal dystrophy type i 61
corneal dystrophy granular type 43
granular dystrophy, corneal 61
corneal granular dystrophy 10
granular dystrophy corneal 45
classic gcd 49
gcdi 49
gcd1 49


External Ids:

OMIM47 121900
ICD10 via Orphanet26 H18.5

Related Diseases for Groenouw Type I Corneal Dystrophy

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
1recurrent corneal erosion10.3

Clinical Features for Groenouw Type I Corneal Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

121900

Clinical synopsis from OMIM:

121900

Drugs & Therapeutics for Groenouw Type I Corneal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
22GTR
See all sources

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

Animal Models for Groenouw Type I Corneal Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Groenouw Type I Corneal Dystrophy

Genetic Variations for Groenouw Type I Corneal Dystrophy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Groenouw Type I Corneal Dystrophy:

63
id Symbol AA change Variation SNP ID
1TGFBIp.Arg555TrpVAR_005083
2TGFBIp.Arg124SerVAR_012444

Expression for genes affiliated with Groenouw Type I Corneal Dystrophy

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

Compounds for genes affiliated with Groenouw Type I Corneal Dystrophy

GO Terms for genes affiliated with Groenouw Type I Corneal Dystrophy

Products for genes affiliated with Groenouw Type I Corneal Dystrophy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Groenouw Type I Corneal Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet