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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Familial retinal arterial macroaneurysm

H19 IGFBP7
IGF2
KCNQ1OT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGF2
(0.75)
IGFBP7



Citations in the biomedical literature:


Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
H19 IGF2 KCNQ1OT1
Familial retinal arterial macroaneurysm
IGFBP7



Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Familial retinal arterial macroaneurysm

Synonym(s):
(no synonyms)

Synonym(s):
- FRAM
- Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare surgical cardiac disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.