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2 OMIM references -
1 associated gene
15 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Craniodiaphyseal dysplasia
Familial exudative vitreoretinopathy

SOST FZD4
LRP5
NDP
TSPAN12
ZNF408


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SOST
(0.68)
LRP5



Citations in the biomedical literature:


Craniodiaphyseal dysplasia
SOST
Familial exudative vitreoretinopathy
FZD4 LRP5 NDP TSPAN12 ZNF408



Craniodiaphyseal dysplasia
Familial exudative vitreoretinopathy

Synonym(s):
(no synonyms)

Synonym(s):
- Criswick-Schepens syndrome
- FEVR

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: C536382

Craniodiaphyseal dysplasia

Very frequent
- Broad nose / nasal bridge
- Coarse face
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Frontal bossing / prominent forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Rib structure anomalies
- Short stature / dwarfism / nanism

Frequent
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis

Occasional
- Autosomal dominant inheritance
- Optic nerve anomaly / optic atrophy / anomaly of the papilla


Familial exudative vitreoretinopathy

(no data available)