GCD1
MCID: GRN024
MIFTS: 24

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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MalaCards based summary: Groenouw Type I Corneal Dystrophy, also known as cdgg1, is related to corneal granular dystrophy and corneal dystrophy, and has symptoms including autosomal dominant inheritance, strabismus and cataract. 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:
11DISEASES, 42NIH Rare Diseases, 23GTR, 44Novoseek, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Groenouw Type I Corneal Dystrophy, Aliases & Descriptions:

Name: Groenouw Type I Corneal Dystrophy 42 23
Cdgg1 42 44
Gcd1 48 61
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
 
Groenouw Corneal Dystrophy Type I 61
Granular Corneal Dystrophy Type 1 48
Corneal Dystrophy Granular Type 42
Granular Dystrophy, Corneal 61
Granular Dystrophy Corneal 44
Corneal Granular Dystrophy 11
Classic Gcd 48
Gcdi 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
gcd1:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Childhood


External Ids:

OMIM46 121900
ICD10 via Orphanet27 H18.5

Related Diseases for Groenouw Type I Corneal Dystrophy

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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 dystrophy10.5
3keratoconus10.4
4recurrent corneal erosion10.4
5corneal deposit10.4

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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Symptoms by clinical synopsis from OMIM:

121900

Clinical features from OMIM:

121900

HPO human phenotypes related to Groenouw Type I Corneal Dystrophy:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 strabismus HP:0000486
3 cataract HP:0000518
4 granular corneal dystrophy HP:0007802
5 punctate corneal dystrophy HP:0007809
6 nodular corneal dystrophy HP:0007827

Drugs & Therapeutics for Groenouw Type I Corneal Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Groenouw Type I Corneal Dystrophy

Search NIH Clinical Center for Groenouw Type I Corneal Dystrophy

Genetic Tests for Groenouw Type I Corneal Dystrophy

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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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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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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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UniProtKB/Swiss-Prot genetic disease variations for Groenouw Type I Corneal Dystrophy:

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

Clinvar genetic disease variations for Groenouw Type I Corneal Dystrophy:

7
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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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
  • Proteins
  • Kits and Assays

Sources for Groenouw Type I Corneal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet