GCD1
MCID: GRN024
MIFTS: 22

Groenouw Type I Corneal Dystrophy (GCD1) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Groenouw Type I Corneal Dystrophy

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Sources:
48OMIM, 34MalaCards
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MalaCards: Groenouw Type I Corneal Dystrophy, also known as cdgg1, is related to corneal granular dystrophy and corneal dystrophy. 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:48 121900

Aliases & Classifications for Groenouw Type I Corneal Dystrophy

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
classic granular corneal dystrophy:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Childhood


Aliases & Descriptions:

groenouw type i corneal dystrophy 44 23
cdgg1 44 46
corneal dystrophy punctate or nodular 44
classic granular corneal dystrophy 50
corneal dystrophy, groenouw type i 48
granular corneal dystrophy type i 50
corneal dystrophy groenouw type i 50
granular corneal dystrophy type 1 50
groenouw corneal dystrophy type i 63
corneal dystrophy granular type 44
granular dystrophy, corneal 63
corneal granular dystrophy 11
granular dystrophy corneal 46
classic gcd 50
gcdi 50
gcd1 50


External Ids:

OMIM48 121900
ICD10 via Orphanet27 H18.5

Related Diseases for Groenouw Type I Corneal Dystrophy

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18GeneCards, 19GeneDecks
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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
1corneal granular dystrophy10.7
2corneal dystrophy10.4
3keratoconus10.4
4recurrent corneal erosion10.3
5corneal deposit10.3

Graphical network of diseases related to Groenouw Type I Corneal Dystrophy:



Diseases related to groenouw type i corneal dystrophy

Symptoms for Groenouw Type I Corneal Dystrophy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

121900

Clinical features from OMIM:

121900

Drugs & Therapeutics for Groenouw Type I Corneal Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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23GTR
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Genetic tests related to Groenouw Type I Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Groenouw Corneal Dystrophy Type I23

Anatomical Context for Groenouw Type I Corneal Dystrophy

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Sources:
34MalaCards
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MalaCards organs/tissues related to Groenouw Type I Corneal Dystrophy:

34
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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53PubMed
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Articles related to Groenouw Type I Corneal Dystrophy:

idTitleAuthorsYear
1
Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis]. (15179300)
2004

Variations for Groenouw Type I Corneal Dystrophy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Groenouw Type I Corneal Dystrophy:

65
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555TrpVAR_005083
2TGFBIp.Arg124SerVAR_012444

Clinvar genetic disease variations for Groenouw Type I Corneal Dystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1TGFBINM_000358.2(TGFBI): c.1663C> T (p.Arg555Trp)single nucleotide variantPathogenicrs121909208GRCh37Chr 5, 135392469: 135392469
2TGFBINM_000358.2(TGFBI): c.370C> A (p.Arg124Ser)single nucleotide variantPathogenicrs121909210GRCh37Chr 5, 135382095: 135382095

Expression for genes affiliated with Groenouw Type I Corneal Dystrophy

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet