Granular corneal dystrophy type I

General Information (adopted from Orphanet):

Synonyms, Signs: CORNEAL DYSTROPHY, PUNCTATE OR NODULAR
GRANULAR CORNEAL DYSTROPHY, TYPE I
GCDI
CDGG1
GCD1
Granular corneal dystrophy type 1
Corneal dystrophy Groenouw type I
Classic GCD
Classic granular corneal dystrophy
Number of Symptoms 6
OrphanetNr: 98962
OMIM Id: 121900
ICD-10: H18.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Stromal corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000486) Strabismus 576 / 7739
2
(HPO:0007827) Nodular corneal dystrophy 1 / 7739
3
(HPO:0007809) Punctate corneal dystrophy 2 / 7739
4
(HPO:0007802) Granular corneal dystrophy 1 / 7739
5
(HPO:0000518) Cataract 454 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Granular corneal dystrophy was described by Groenouw (1890, 1898, 1917). Groenouw (1933) described the disorder in an autosomal dominant pattern through 4 generations. In the macular, granular, and lattice dystrophies, the changes are in the corneal stroma rather ...
Molecular genetics OMIM Munier et al. (1997) generated a YAC contig of the linked area and, following cDNA selection, recovered the gene that encodes keratoepithelin. In 6 families they identified missense mutations. All detected mutations occurred at the CpG dinucleotide of ...