Details of Disease | DrugMAP

General Information of Disease (ID: DIS7257O)

Disease Name	Arterial calcification, generalized, of infancy, 2
Synonyms	GACI2; arterial calcification of infancy caused by mutation in ABCC6; arterial calcification, generalized, of infancy, 2; ABCC6 arterial calcification of infancy; arterial calcification, generalized, of infancy, type 2
Definition	Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.
Disease Hierarchy	DIS9BJ1Y: Arterial calcification DIS7257O: Arterial calcification, generalized, of infancy, 2
Disease Identifiers	MONDO ID MONDO_0013768 UMLS CUI C3276161 OMIM ID 614473 MedGen ID 477791

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC6	DT582KR	Strong	Biomarker	[1]
ABCC6	DT582KR	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC6	OTZT0LKT	Definitive	Autosomal recessive	[1]
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References

1	Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29.