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Condition report · Cardiovascular

Hereditary Arterial Calcification (GACI)

Rare recessive conditions in which calcium builds up in the walls of the arteries, either in infancy or in adult life. Carriers of one changed gene copy are usually unaffected.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Generalised Arterial Calcification of Infancy

Autosomal recessive

Severe calcification and narrowing of large and medium arteries starting before or soon after birth, caused by changes in ENPP1 or ABCC6.

What a diagnosis changes

Knowing about it supports early specialist care and informs carrier and reproductive counselling.

Genes analysed

Also known as

generalised arterial calcification in infancy; generalized arterial calcification in infancy; Generalized Arterial Calcification of Infancy; idiopathic infantile arterial calcification; idiopathic obliterative arteriopathy; IIAC; infantile arteriosclerosis; occlusive infantile arteriopathy

Includes 2 related subtypes ↓
  • arterial calcification, generalized, of infancy, 1
  • arterial calcification, generalized, of infancy, 2
MONDO:0018870Orphanet 51608MedGen 395331

Arterial Calcification due to CD73 Deficiency

Autosomal recessive

A condition caused by changes in NT5E that causes calcification of the leg arteries and the joints of the hands and feet from early adulthood.

Genes analysed

Also known as

ACDC; arterial calcification and distal joint calcification; calcification of joints and arteries; CALJA

MONDO:0008895OMIM 211800Orphanet 289601MedGen 347132

Limitations

  • ABCC6 has closely related pseudogenes, so changes in parts of this gene may be missed or need confirmation.

Other cardiovascular conditions

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