MCID: CRN235
MIFTS: 22

Corneal Dystrophy, Groenouw Type I malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Groenouw Type I

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Aliases & Descriptions for Corneal Dystrophy, Groenouw Type I:

Name: Corneal Dystrophy, Groenouw Type I 50 12
Cdgg1 46 68 48
Corneal Dystrophy, Groenouw Type 1 68 25
Corneal Dystrophy Groenouw Type I 52 68
Granular Corneal Dystrophy Type I 52 68
Gcd1 52 68
Corneal Dystrophy Punctate or Nodular 46
Punctate or Nodular Corneal Dystrophy 68
Classic Granular Corneal Dystrophy 52
 
Groenouw Corneal Dystrophy Type I 66
Granular Corneal Dystrophy Type 1 52
Groenouw Type I Corneal Dystrophy 46
Corneal Dystrophy Granular Type 46
Granular Dystrophy Corneal 48
Mesh; D003317 68
Classic Gcd 52
Gcdi 52

Characteristics:

Orphanet epidemiological data:

52
corneal dystrophy groenouw type i:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

62
corneal dystrophy, groenouw type i:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 121900
Orphanet52 ORPHA98962
ICD10 via Orphanet29 H18.5
MedGen35 C1641846

Summaries for Corneal Dystrophy, Groenouw Type I

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UniProtKB/Swiss-Prot:68 Corneal dystrophy, Groenouw type 1: A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment.

MalaCards based summary: Corneal Dystrophy, Groenouw Type I, also known as cdgg1, is related to corneal granular dystrophy and corneal dystrophy, and has symptoms including strabismus, cataract and granular corneal dystrophy. An important gene associated with Corneal Dystrophy, Groenouw Type I is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye.

Description from OMIM:50 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 dystrophy11.3
2corneal dystrophy10.2

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:

id Description Frequency HPO Source Accession
1 strabismus HP:0000486
2 cataract HP:0000518
3 granular corneal dystrophy HP:0007802
4 punctate corneal dystrophy HP:0007809
5 nodular corneal dystrophy HP:0007827

Drugs & Therapeutics for Corneal Dystrophy, Groenouw Type I

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Interventional clinical trials:

Search ClinicalTrials, 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 I25

Anatomical Context for Corneal Dystrophy, Groenouw Type I

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg555TrpVAR_005083rs121909208
2TGFBIp.Arg124SerVAR_012444rs121909210

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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet