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Persistent hyperplastic primary vitreous
2 OMIM references -
3 associated genes
22 connected diseases
No signs/symptoms info
Disease Type of connection
Familial exudative vitreoretinopathy
Retinopathy of prematurity
Coats disease
Norrie disease
Congenital blindness due to retinal non-attachment
Congenital cataract microcornea with corneal opacity
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial isolated dilated cardiomyopathy
Hyperostosis corticalis generalisata
Idiopathic juvenile osteoporosis
Muscular dystrophy, Selcen type
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- PFVS
- PHPV
- Persistent fetal vasculature syndrome
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: D054514
Gene symbol UniProt reference OMIM reference
ATOH7 Q8N100609875
FZD4 Q9ULV1604579
NDP Q00604300658
No signs/symptoms info available.