MCID: CRN235
MIFTS: 21

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 51 12
Cdgg1 47 69 49
Corneal Dystrophy, Groenouw Type 1 69 26
Corneal Dystrophy Groenouw Type I 53 69
Granular Corneal Dystrophy Type I 53 69
Gcd1 53 69
Corneal Dystrophy Punctate or Nodular 47
Punctate or Nodular Corneal Dystrophy 69
Classic Granular Corneal Dystrophy 53
 
Groenouw Corneal Dystrophy Type I 67
Granular Corneal Dystrophy Type 1 53
Groenouw Type I Corneal Dystrophy 47
Corneal Dystrophy Granular Type 47
Granular Dystrophy Corneal 49
Mesh; D003317 69
Classic Gcd 53
Gcdi 53

Characteristics:

Orphanet epidemiological data:

53
corneal dystrophy groenouw type i:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

63
corneal dystrophy, groenouw type i:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 121900
Orphanet53 ORPHA98962
ICD10 via Orphanet30 H18.5
MedGen36 C1641846

Summaries for Corneal Dystrophy, Groenouw Type I

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UniProtKB/Swiss-Prot:69 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:51 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 dystrophy11.2
2corneal dystrophy10.1

Symptoms for Corneal Dystrophy, Groenouw Type I

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Symptoms by clinical synopsis from OMIM:

121900

Clinical features from OMIM:

121900

Human phenotypes related to Corneal Dystrophy, Groenouw Type I:

 63
id Description HPO Frequency HPO Source Accession
1 strabismus63 HP:0000486
2 cataract63 HP:0000518
3 granular corneal dystrophy63 HP:0007802
4 punctate corneal dystrophy63 HP:0007809
5 nodular corneal dystrophy63 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 I26

Anatomical Context for Corneal Dystrophy, Groenouw Type I

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

35
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:

69
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)SNVPathogenicrs121909208GRCh37Chr 5, 135392469: 135392469
2TGFBINM_000358.2(TGFBI): c.370C> A (p.Arg124Ser)SNVPathogenicrs121909210GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet