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Familial exudative vitreoretinopathy
5 OMIM references -
5 associated genes
36 connected diseases
No signs/symptoms info
Disease Type of connection
Retinopathy of prematurity
Persistent hyperplastic primary vitreous
Coats disease
Norrie disease
Idiopathic juvenile osteoporosis
Hyperostosis corticalis generalisata
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Familial isolated dilated cardiomyopathy
Primary dystonia, DYT6 type
Systemic-onset juvenile idiopathic arthritis
Craniodiaphyseal dysplasia
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Sclerosteosis
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Heritable pulmonary arterial hypertension
Muscular dystrophy, Selcen type
Partial atrioventricular canal
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
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Synonym(s):
- Criswick-Schepens syndrome
- FEVR

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
1 MeSH reference: C536382

Gene symbol UniProt reference OMIM reference
FZD4 Q9ULV1604579
LRP5 O75197603506
NDP Q00604300658
TSPAN12 O95859613138
ZNF408 Q9H9D4
No signs/symptoms info available.