Details of Disease | DrugMAP

General Information of Disease (ID: DISKKF3C)

Disease Name	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Synonyms	hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome; HANAC syndrome; HANAC; hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome; angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Definition	A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS1NE6J: COL4A1-related disorder DIS2IQDX: Cardiovascular disease DISKKF3C: Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Disease Identifiers	MONDO ID MONDO_0012726 MESH ID C567088 UMLS CUI C2673195 OMIM ID 611773 MedGen ID 382033 Orphanet ID 73229 SNOMED CT ID 702428000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A1	OTL6D1YE	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.