CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1

General Information (adopted from Orphanet):

Synonyms, Signs: POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY
CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR
PPCD1
PPCD
Number of Symptoms 5
OrphanetNr:
OMIM Id: 122000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000687) Widely spaced teeth 40 / 7739
2
(HPO:0000501) Glaucoma 180 / 7739
3
(HPO:0007915) Polymorphous posterior corneal dystrophy 2 / 7739
4
(HPO:0001513) Obesity 172 / 7739
5
(OMIM) Keratitis bullosa interna 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an ...
Clinical Description OMIM Vacuoles are demonstrated in the posterior parts of the cornea by slit-lamp examination. The vesicles are located on the endothelial surface. The corneal endothelium is normally a single layer of cells that lose their mitotic potential after development ...
Molecular genetics OMIM Heon et al. (2002) identified mutations in the VSX1 homeobox gene in patients with either keratoconus (148300) or PPCD. Two sequence changes (L159M, 605020.0003 and G160D, 605020.0002) were associated with keratoconus and PPCD, respectively, and involved a region ...