Details of Disease | DrugMAP

General Information of Disease (ID: DISSZQC9)

Disease Name	Familial retinal arterial macroaneurysm
Synonyms	retinal arterial macroaneurysm with supravalvular pulmonic stenosis; RAMSVPS; Fram; retinal arterial macroaneurysm and supravalvular pulmonic stenosis
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISD715V: Hereditary neurological disease DISNEEBJ: Retinal vascular disorder DISSZQC9: Familial retinal arterial macroaneurysm
Disease Identifiers	MONDO ID MONDO_0013640 UMLS CUI C3280205 OMIM ID 614224 MedGen ID 481835 Orphanet ID 284247 SNOMED CT ID 764452004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IGFBP7	TTUQ01B	moderate	Genetic Variation	[1]
IGFBP7	TTUQ01B	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IGFBP7	OT1D416P	Strong	Autosomal recessive	[2]
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References

1	Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.Clin Genet. 2020 Mar;97(3):447-456. doi: 10.1111/cge.13676. Epub 2019 Dec 2.
2	Familial retinal arterial macroaneurysms. Retina. 2002 Oct;22(5):607-15. doi: 10.1097/00006982-200210000-00012.