CDGG1
MCID: CRN235
MIFTS: 21

Corneal Dystrophy, Groenouw Type I (CDGG1) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Groenouw Type I

About this section

Aliases & Descriptions for Corneal Dystrophy, Groenouw Type I:

Name: Corneal Dystrophy, Groenouw Type I 52 12
Cdgg1 48 70 50
Corneal Dystrophy, Groenouw Type 1 70 27
Corneal Dystrophy Groenouw Type I 54 70
Granular Corneal Dystrophy Type I 54 70
Gcd1 54 70
Corneal Dystrophy Punctate or Nodular 48
Punctate or Nodular Corneal Dystrophy 70
Classic Granular Corneal Dystrophy 54
 
Groenouw Corneal Dystrophy Type I 68
Granular Corneal Dystrophy Type 1 54
Groenouw Type I Corneal Dystrophy 48
Corneal Dystrophy Granular Type 48
Granular Dystrophy Corneal 50
Mesh; D003317 70
Classic Gcd 54
Gcdi 54

Characteristics:

Orphanet epidemiological data:

54
corneal dystrophy groenouw type i:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

64
corneal dystrophy, groenouw type i:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 121900
Orphanet54 ORPHA98962
ICD10 via Orphanet31 H18.5
MedGen37 C1641846

Summaries for Corneal Dystrophy, Groenouw Type I

About this section
UniProtKB/Swiss-Prot:70 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:52 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 dystrophy11.2
2corneal dystrophy10.1

Symptoms & Phenotypes for Corneal Dystrophy, Groenouw Type I

About this section

Symptoms by clinical synopsis from OMIM:

121900

Clinical features from OMIM:

121900

Human phenotypes related to Corneal Dystrophy, Groenouw Type I:

 64
id Description HPO Frequency HPO Source Accession
1 strabismus64 HP:0000486
2 cataract64 HP:0000518
3 granular corneal dystrophy64 HP:0007802
4 punctate corneal dystrophy64 HP:0007809
5 nodular corneal dystrophy64 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 I27

Anatomical Context for Corneal Dystrophy, Groenouw Type I

About this section

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

36
Eye

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:

70
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

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet