MCID: CRN235
MIFTS: 26

Corneal Dystrophy, Groenouw Type I

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Groenouw Type I

MalaCards integrated aliases for Corneal Dystrophy, Groenouw Type I:

Name: Corneal Dystrophy, Groenouw Type I 53 13
Cdgg1 53 49 71 51
Gcd1 53 55 71
Granular Corneal Dystrophy Type I 55 71
Corneal Dystrophy Groenouw Type I 55 71
Groenouw Corneal Dystrophy Type I 28 69
Granular Corneal Dystrophy, Type I; Gcd1 53
Corneal Dystrophy, Punctate or Nodular 53
Corneal Dystrophy Punctate or Nodular 49
Punctate or Nodular Corneal Dystrophy 71
Granular Corneal Dystrophy, Type I 53
Classic Granular Corneal Dystrophy 55
Corneal Dystrophy, Groenouw Type 1 71
Groenouw Type I Corneal Dystrophy 49
Granular Corneal Dystrophy Type 1 55
Corneal Dystrophy Granular Type 49
Granular Corneal Dystrophies 36
Granular Dystrophy Corneal 51
Mesh; D003317 71
Classic Gcd 55
Gcdi 55

Characteristics:

Orphanet epidemiological data:

55
granular corneal dystrophy type i
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant (5q22-q33.3)


HPO:

31
corneal dystrophy, groenouw type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 121900
Orphanet 55 ORPHA98962
UMLS via Orphanet 70 C1641846
ICD10 via Orphanet 33 H18.5
MedGen 39 C1641846
KEGG 36 H00955
UMLS 69 C1641846

Summaries for Corneal Dystrophy, Groenouw Type I

UniProtKB/Swiss-Prot : 71 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 dystrophy, avellino type and corneal dystrophy, reis-bucklers type, 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:

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 12.2
2 corneal dystrophy, reis-bucklers type 11.6
3 corneal granular dystrophy 11.1
4 corneal dystrophy 10.3
5 angel-shaped phalangoepiphyseal dysplasia 10.0

Graphical network of the top 20 diseases related to Corneal Dystrophy, Groenouw Type I:



Diseases related to Corneal Dystrophy, Groenouw Type I

Symptoms & Phenotypes for Corneal Dystrophy, Groenouw Type I

Symptoms via clinical synopsis from OMIM:

53
Eyes:
granular corneal dystrophy
punctate corneal dystrophy
nodular corneal dystrophy
strabismus
cataract


Clinical features from OMIM:

121900

Human phenotypes related to Corneal Dystrophy, Groenouw Type I:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 strabismus 31 HP:0000486
3 granular corneal dystrophy 31 HP:0007802
4 punctate corneal dystrophy 31 HP:0007809
5 nodular corneal dystrophy 31 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:

# Genetic test Affiliating Genes
1 Groenouw Corneal Dystrophy Type I 28 TGFBI

Anatomical Context for Corneal Dystrophy, Groenouw Type I

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

38
Eye

Publications for Corneal Dystrophy, Groenouw Type I

Articles related to Corneal Dystrophy, Groenouw Type I:

# Title Authors Year
1
Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance. ( 26221553 )
2015
2
Recurrence of granular corneal dystrophy type I deposits within host stroma after non-descemet baring anterior lamellar keratoplasty. ( 25285586 )
2014
3
Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI. ( 23991378 )
2013
4
The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype. ( 21264234 )
2011
5
p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I. ( 18752451 )
2008
6
Sequencing analysis of a 36.8 kb fragment of yeast chromosome XV reveals 26 open reading frames including SEC63, CDC31, SUG2, GCD1, RBL2, PNT1, PAC1 and VPH1. ( 9153759 )
1997

Variations for Corneal Dystrophy, Groenouw Type I

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

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....