GCD1
MCID: GRN024
MIFTS: 22

Groenouw Type I Corneal Dystrophy (GCD1) malady

Genetic diseases, Rare diseases, Eye diseases categories
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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 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:
10DISEASES, 42NIH Rare Diseases, 22GTR, 44Novoseek, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Groenouw Type I Corneal Dystrophy, Aliases & Descriptions:

Name: Groenouw Type I Corneal Dystrophy 42 22
Cdgg1 42 44
Gcd1 48 62
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 62
Granular Corneal Dystrophy Type 1 48
Corneal Dystrophy Granular Type 42
Granular Dystrophy, Corneal 62
Granular Dystrophy Corneal 44
Corneal Granular Dystrophy 10
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 Orphanet26 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 I22

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:

64
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555TrpVAR_005083
2TGFBIp.Arg124SerVAR_012444

Clinvar genetic disease variations for Groenouw Type I Corneal Dystrophy:

6
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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet