Details of Disease

General Information of Disease (ID: DISGZ0TD)

• Disease Name: Arterial calcification, generalized, of infancy, 1
• Synonyms: coronary sclerosis, medial, of infancy; arterial calcification, idiopathic infantile; arteriopathy, occlusive infantile; idiopathic infantile arterial calcification; Gaci; GACI1; generalised arterial calcification of infancy 1; arterial calcification, generalized, of infancy, 1; generalized arterial calcification of infancy 1; ENPP1 arterial calcification of infancy; arterial calcification of infancy caused by mutation in ENPP1; arterial calcification, generalized, of infancy, type 1
• Definition: An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.
• Disease Hierarchy:
  DIS9BJ1Y: Arterial calcification
  DISGZ0TD: Arterial calcification, generalized, of infancy, 1
• Disease Identifiers:
  MONDO ID: MONDO_0008817
  UMLS CUI: C4551985
  OMIM ID: 208000
  MedGen ID: 1631685

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ENPP1	TTZTIWS	Strong	Genetic Variation	[1]
ENPP1	TTZTIWS	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ENPP1	OT3MPPYX	Definitive	Autosomal recessive	[2]

References

• [1] Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.Hum Mutat. 2016 Nov;37(11):1190-1201. doi: 10.1002/humu.23057. Epub 2016 Aug 23.
• [2] Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010 Feb 12;86(2):273-8. doi: 10.1016/j.ajhg.2010.01.010. Epub 2010 Feb 4.