MCID: CRN235
MIFTS: 23

Corneal Dystrophy, Groenouw Type I malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Corneal Dystrophy, Groenouw Type I

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Corneal Dystrophy, Groenouw Type I:

Name: Corneal Dystrophy, Groenouw Type I 49 11
Corneal Dystrophy Groenouw Type I 51 24 67
Cdgg1 45 47 67
Granular Corneal Dystrophy Type I 51 67
Gcd1 51 67
Corneal Dystrophy Punctate or Nodular 45
Punctate or Nodular Corneal Dystrophy 67
Classic Granular Corneal Dystrophy 51
Corneal Dystrophy, Groenouw Type 1 67
 
Granular Corneal Dystrophy Type 1 51
Groenouw Corneal Dystrophy Type I 65
Groenouw Type I Corneal Dystrophy 45
Corneal Dystrophy Granular Type 45
Granular Dystrophy Corneal 47
Mesh; D003317 67
Classic Gcd 51
Gcdi 51


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
corneal dystrophy groenouw type i:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood


External Ids:

OMIM49 121900
Orphanet51 98962
ICD10 via Orphanet28 H18.5
MedGen34 C1641846

Summaries for Corneal Dystrophy, Groenouw Type I

About this section
UniProtKB/Swiss-Prot:67 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 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:49 121900

Related Diseases for Corneal Dystrophy, Groenouw Type I

About this section

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

About this section

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Corneal Dystrophy, Groenouw Type I

Genetic Tests for Corneal Dystrophy, Groenouw Type I

About this section

Genetic tests related to Corneal Dystrophy, Groenouw Type I:

id Genetic test Affiliating Genes
1 Groenouw Corneal Dystrophy Type I24

Anatomical Context for Corneal Dystrophy, Groenouw Type I

About this section

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

33
Eye

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

About this section

Publications for Corneal Dystrophy, Groenouw Type I

About this section

Variations for Corneal Dystrophy, Groenouw Type I

About this section

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

67
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

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

Pathways for genes affiliated with Corneal Dystrophy, Groenouw Type I

About this section

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

About this section

Sources for Corneal Dystrophy, Groenouw Type I

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet