MCID: CRN235
MIFTS: 20

Corneal Dystrophy, Groenouw Type I malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Corneal Dystrophy, Groenouw Type I

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Corneal Dystrophy, Groenouw Type I:

Name: Corneal Dystrophy, Groenouw Type I 46 9
Corneal Dystrophy Groenouw Type I 48 22
Cdgg1 42 44
Corneal Dystrophy Punctate or Nodular 42
Classic Granular Corneal Dystrophy 48
Groenouw Type I Corneal Dystrophy 42
Granular Corneal Dystrophy Type I 48
 
Groenouw Corneal Dystrophy Type I 61
Granular Corneal Dystrophy Type 1 48
Corneal Dystrophy Granular Type 42
Granular Dystrophy Corneal 44
Classic Gcd 48
Gcdi 48
Gcd1 48


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
corneal dystrophy groenouw type i:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood


External Ids:

OMIM46 121900
Orphanet48 98962
ICD10 via Orphanet26 H18.5

Summaries for Corneal Dystrophy, Groenouw Type I

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MalaCards based summary: Corneal Dystrophy, Groenouw Type I, also known as corneal dystrophy groenouw type i, is related to corneal granular dystrophy and corneal dystrophy, and has symptoms including autosomal dominant inheritance, strabismus and cataract. An important gene associated with Corneal Dystrophy, Groenouw Type I is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

Description from OMIM:46 121900

Related Diseases for Corneal Dystrophy, Groenouw Type I

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Diseases related to Corneal Dystrophy, Groenouw Type I via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1corneal granular dystrophy10.5
2corneal dystrophy10.5
3recurrent corneal erosion10.4
4corneal deposit10.4

Symptoms for Corneal Dystrophy, Groenouw Type I

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Symptoms by clinical synopsis from OMIM:

121900

Clinical features from OMIM:

121900

HPO human phenotypes related to Corneal Dystrophy, Groenouw Type I:

(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 Corneal Dystrophy, Groenouw Type I

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy, Groenouw Type I

Search NIH Clinical Center for Corneal Dystrophy, Groenouw Type I

Genetic Tests for Corneal Dystrophy, Groenouw Type I

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Genetic tests related to Corneal Dystrophy, Groenouw Type I:

id Genetic test Affiliating Genes
1 Groenouw Corneal Dystrophy Type I22

Anatomical Context for Corneal Dystrophy, Groenouw Type I

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

31
Eye

Animal Models for Corneal Dystrophy, Groenouw Type I or affiliated genes

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Publications for Corneal Dystrophy, Groenouw Type I

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Variations for Corneal Dystrophy, Groenouw Type I

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

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

Clinvar genetic disease variations for Corneal Dystrophy, Groenouw Type I:

5
id Gene Variation 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 Corneal Dystrophy, Groenouw Type I

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

Pathways for genes affiliated with Corneal Dystrophy, Groenouw Type I

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Compounds for genes affiliated with Corneal Dystrophy, Groenouw Type I

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GO Terms for genes affiliated with Corneal Dystrophy, Groenouw Type I

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Sources for Corneal Dystrophy, Groenouw Type I

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet