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

Aliases & Descriptions for Corneal Dystrophy, Groenouw Type I:

Name: Corneal Dystrophy, Groenouw Type I 54 13
Cdgg1 50 66 52
Corneal Dystrophy, Groenouw Type 1 66 29
Granular Corneal Dystrophy Type I 56 66
Corneal Dystrophy Groenouw Type I 56 66
Gcd1 56 66
Corneal Dystrophy Punctate or Nodular 50
Punctate or Nodular Corneal Dystrophy 66
Classic Granular Corneal Dystrophy 56
Groenouw Type I Corneal Dystrophy 50
Granular Corneal Dystrophy Type 1 56
Groenouw Corneal Dystrophy Type I 69
Corneal Dystrophy Granular Type 50
Granular Dystrophy Corneal 52
Mesh; D003317 66
Classic Gcd 56
Gcdi 56

Characteristics:

Orphanet epidemiological data:

56
granular corneal dystrophy type i
Inheritance: Autosomal dominant; Age of onset: Childhood;

HPO:

32
corneal dystrophy, groenouw type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 121900
Orphanet 56 ORPHA98962
ICD10 via Orphanet 34 H18.5
MedGen 40 C1641846

Summaries for Corneal Dystrophy, Groenouw Type I

UniProtKB/Swiss-Prot : 66 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 cataract, strabismus 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: 121900

Related Diseases for Corneal Dystrophy, Groenouw Type I

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

id Related Disease Score Top Affiliating Genes
1 corneal granular dystrophy 11.2
2 corneal dystrophy 10.1

Symptoms & Phenotypes for Corneal Dystrophy, Groenouw Type I

Symptoms by clinical synopsis from OMIM:

121900

Clinical features from OMIM:

121900

Human phenotypes related to Corneal Dystrophy, Groenouw Type I:

32
id Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 strabismus 32 HP:0000486
3 granular corneal dystrophy 32 HP:0007802
4 punctate corneal dystrophy 32 HP:0007809
5 nodular corneal dystrophy 32 HP:0007827

Drugs & Therapeutics for Corneal Dystrophy, Groenouw Type I

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

Genetic Tests for Corneal Dystrophy, Groenouw Type I

Genetic tests related to Corneal Dystrophy, Groenouw Type I:

id Genetic test Affiliating Genes
1 Groenouw Corneal Dystrophy Type I 29

Anatomical Context for Corneal Dystrophy, Groenouw Type I

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

39
Eye

Publications for Corneal Dystrophy, Groenouw Type I

Variations for Corneal Dystrophy, Groenouw Type I

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

66
id Symbol AA change Variation ID SNP ID
1 TGFBI p.Arg555Trp VAR_005083 rs121909208
2 TGFBI p.Arg124Ser VAR_012444 rs121909210

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGFBI NM_000358.2(TGFBI): c.1663C> T (p.Arg555Trp) single nucleotide variant Pathogenic rs121909208 GRCh37 Chromosome 5, 135392469: 135392469
2 TGFBI NM_000358.2(TGFBI): c.370C> A (p.Arg124Ser) single nucleotide variant Pathogenic rs121909210 GRCh37 Chromosome 5, 135382095: 135382095

Expression for Corneal Dystrophy, Groenouw Type I

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

Pathways for Corneal Dystrophy, Groenouw Type I

GO Terms for Corneal Dystrophy, Groenouw Type I

Sources for Corneal Dystrophy, Groenouw Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....