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Familial retinal arterial macroaneurysm
1 OMIM reference -
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
MODY syndrome
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Hemihypertrophy
Permanent neonatal diabetes mellitus
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
Ichthyosis-hypotrichosis syndrome
Hyperinsulinism due to HNF1A deficiency
Jawad syndrome
Seckel syndrome
Ovarian adenocarcinoma
Synonym(s):
- FRAM
- Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare surgical cardiac disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
IGFBP7 Q16270602867
No signs/symptoms info available.