Details of Disease

General Information of Disease (ID: DIS9BJ1Y)

Disease Name	Arterial calcification
Synonyms	generalised arterial calcification in infancy; generalized arterial calcification in infancy; IIAC; infantile arteriosclerosis; Generalized Arterial Calcification of Infancy; generalized arterial calcification of infancy; generalised arterial calcification of infancy; idiopathic infantile arterial calcification; occlusive infantile arteriopathy; idiopathic obliterative arteriopathy
Disease Class	BD52: Arteries/arterioles disorder
Definition	Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.
Disease Hierarchy	DISYKSRF: Genetic disease DISVS67S: Vascular disease DIS9BJ1Y: Arterial calcification
ICD Code	ICD-11 ICD-11: BD52.Y
Disease Identifiers	MONDO ID MONDO_0018870 MESH ID C537440 UMLS CUI C1859727 MedGen ID 395331 HPO ID HP:0003207 Orphanet ID 51608

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Preclinical Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
SB 242784	DMFXJDL	Preclinical	Small molecular drug	[1]
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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
ENPP1	TTZTIWS	Supportive	Autosomal dominant	[2]
ENPP1	TTZTIWS	moderate	Biomarker	[3]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC6	DT582KR	Supportive	Autosomal dominant	[2]
ABCC6	DT582KR	Strong	Biomarker	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC6	OTZT0LKT	Supportive	Autosomal dominant	[2]
ENPP1	OT3MPPYX	Supportive	Autosomal dominant	[2]
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References

1	SB 242784, a selective inhibitor of the osteoclastic V-H+ATPase, inhibits arterial calcification in the rat. Circ Res. 2002 Sep 20;91(6):547-52.
2	Generalized Arterial Calcification of Infancy. 2014 Nov 13 [updated 2020 Dec 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3	Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation.Osteoporos Int. 2018 Nov;29(11):2575-2579. doi: 10.1007/s00198-018-4639-x. Epub 2018 Sep 11.
4	Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?.Bone. 2020 Mar;132:115190. doi: 10.1016/j.bone.2019.115190. Epub 2019 Dec 13.