CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3

General Information (adopted from Orphanet):

Synonyms, Signs: PPCD3
Number of Symptoms 4
OrphanetNr:
OMIM Id: 609141
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:0012038) Corneal guttata 3 / 7739
2
 (HPO:0001131) Corneal dystrophy 56 / 7739
3
 (HPO:0000023) Inguinal hernia 11/14 [HPO:probinson] 16252232 IBIS 181 / 7739
4
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Moroi et al. (2003) reported a woman with PPCD who had a prominent retrocorneal membrane. The authors stated that this feature had not previously been reported with PPCD. Many of the woman's relatives were affected by PPCD with ...
Molecular genetics OMIM Krafchak et al. (2005) identified a heterozygous frameshift mutation in the TCF8 gene (189909.0001) in affected members of the family with PPCD reported by Moroi et al. (2003) and 4 different heterozygous nonsense and frameshift mutations in TCF8 ...