CDGG1
MCID: CRN235
MIFTS: 29

Corneal Dystrophy, Groenouw Type I (CDGG1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Groenouw Type I

MalaCards integrated aliases for Corneal Dystrophy, Groenouw Type I:

Name: Corneal Dystrophy, Groenouw Type I 57 12 13
Cdgg1 57 53 74 55
Groenouw Corneal Dystrophy Type I 29 6 72
Gcd1 57 59 74
Granular Corneal Dystrophy Type I 59 74
Corneal Dystrophy Groenouw Type I 59 74
Granular Corneal Dystrophy, Type I; Gcd1 57
Corneal Dystrophy, Punctate or Nodular 57
Corneal Dystrophy Punctate or Nodular 53
Punctate or Nodular Corneal Dystrophy 74
Dystrophy, Corneal, Groenouw Type I 40
Granular Corneal Dystrophy, Type I 57
Classic Granular Corneal Dystrophy 59
Corneal Dystrophy, Groenouw Type 1 74
Groenouw Type I Corneal Dystrophy 53
Granular Corneal Dystrophy Type 1 59
Corneal Dystrophy Granular Type 53
Granular Corneal Dystrophy 1 12
Mesh; D003317 74
Classic Gcd 59
Gcdi 59

Characteristics:

Orphanet epidemiological data:

59
granular corneal dystrophy type i
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant (5q22-q33.3)


HPO:

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


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0080530
OMIM 57 121900
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 73 C1641846
Orphanet 59 ORPHA98962
MedGen 42 C1641846
UMLS 72 C1641846

Summaries for Corneal Dystrophy, Groenouw Type I

Disease Ontology : 12 A granular corneal dystrophy that is characterized by recurrent erosions and gray "crumb-like" opacification located in the cornea, proteinaceous "rock candy like" deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has material basis in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.

MalaCards based summary : Corneal Dystrophy, Groenouw Type I, also known as cdgg1, is related to granular corneal dystrophy and corneal dystrophy. An important gene associated with Corneal Dystrophy, Groenouw Type I is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include cornea and eye, and related phenotypes are cataract and strabismus

UniProtKB/Swiss-Prot : 74 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.

More information 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 granular corneal dystrophy 10.8
2 corneal dystrophy 10.8
3 corneal dystrophy, reis-bucklers type 10.3
4 corneal disease 10.3
5 keratopathy 10.3
6 recurrent corneal erosion 10.1

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

Human phenotypes related to Corneal Dystrophy, Groenouw Type I:

32
# 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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
cataract
strabismus
granular corneal dystrophy
punctate corneal dystrophy
nodular corneal dystrophy

Clinical features from OMIM:

121900

Drugs & Therapeutics for Corneal Dystrophy, Groenouw Type I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055

Search 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 29 TGFBI

Anatomical Context for Corneal Dystrophy, Groenouw Type I

The Foundational Model of Anatomy Ontology organs/tissues related to Corneal Dystrophy, Groenouw Type I:

19
Cornea

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

41
Eye

Publications for Corneal Dystrophy, Groenouw Type I

Articles related to Corneal Dystrophy, Groenouw Type I:

(show all 29)
# Title Authors PMID Year
1
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. 38 8 71
9054935 1997
2
Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. 38 8
8044658 1994
3
Granular corneal dystrophy Groenouw type I. Clinical aspects and treatment. 38 8
2220354 1990
4
Granular corneal dystrophy Groenouw type I. 115 Danish patients. An epidemiological and genetic population study. 38 8
2392905 1990
5
Granular corneal dystrophy Groenouw type I. A report of a probable homozygous patient. 38 8
2336942 1990
6
Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopical appearance and symptomatology. 38 8
2618635 1989
7
Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity? 38 8
2694746 1989
8
BIGH3 mutation spectrum in corneal dystrophies. 71
11923233 2002
9
Molecular properties of wild-type and mutant betaIG-H3 proteins. 8
11867580 2002
10
Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy. 8
10442892 1999
11
Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. 71
9727509 1998
12
Three autosomal dominant corneal dystrophies map to chromosome 5q. 8
8136834 1994
13
Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families. 8
3278259 1988
14
Granular corneal dystrophy with late manifestation. 8
6605646 1983
15
Corneal dystrophies: a clinical, pathological, and surgical approach. 28 Edward Jackson Memorial Lecture. 8
4118882 1972
16
Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea. 8
13790593 1961
17
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. 9 38
18752451 2008
18
[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. 9 38
17063427 2006
19
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. 9 38
10660331 1998
20
The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype. 38
21264234 2011
21
Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. 9
16606891 2006
22
Advances in the molecular genetics of corneal dystrophies. 9
10612512 1999
23
Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX. 38
8875187 1996
24
[Phototherapeutic keratectomy in recurrences of granular corneal dystrophy after keratoplasty]. 38
7616729 1995
25
Immunoglobulins in granular corneal dystrophy Groenouw type I. 38
8249590 1993
26
Differential diagnosis between granular corneal dystrophy Groenouw type I and paraproteinemic crystalline keratopathy. 38
8249591 1993
27
Granular corneal dystrophy Groenouw type I. Clinical and genetic aspects. 38
1651039 1991
28
Linkage relations of the locus for granular corneal dystrophy Groenouw type I with 35 polymorphic systems. 38
2618643 1989
29
[Graft recurrences of superficial granular corneal dystrophy Groenouw type I (author's transl)]. 38
141263 1977

Variations for Corneal Dystrophy, Groenouw Type I

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TGFBI NM_000358.3(TGFBI): c.1663C> T (p.Arg555Trp) single nucleotide variant Pathogenic rs121909208 5:135392469-135392469 5:136056780-136056780
2 TGFBI NM_000358.3(TGFBI): c.370C> A (p.Arg124Ser) single nucleotide variant Pathogenic rs121909210 5:135382095-135382095 5:136046406-136046406
3 TGFBI NM_000358.3(TGFBI): c.1631A> G (p.Asn544Ser) single nucleotide variant Uncertain significance rs777288957 5:135392437-135392437 5:136056748-136056748

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

74
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Arg555Trp VAR_005083 rs121909208
2 TGFBI p.Arg124Ser VAR_012444 rs121909210

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
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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