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Posterior polymorphous corneal dystrophy
3 OMIM references -
3 associated genes
12 connected diseases
No signs/symptoms info
Disease Type of connection
Fuchs endothelial corneal dystrophy
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Autosomal recessive primary microcephaly
Anophthalmia / microphthalmia - esophageal atresia
Coffin-Siris syndrome
Colobomatous microphthalmia
Familial rhabdoid tumor
Isolated anophthalmia - microphthalmia
Osteogenesis imperfecta type 3
Septo-optic dysplasia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonym(s):
- PPCD
- Posterior polymorphous dystrophy
- Schlichting dystrophy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL8A2 P25067120252
VSX1 Q9NZR4605020
ZEB1 P37275189909
No signs/symptoms info available.