Hereditary arterial and articular multiple calcification syndrome(CALJA; ACDC)

MedGen UID:: 347132
•Concept ID:: C1859372
•: Disease or Syndrome

Synonyms:	ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73; Calcification of joints and arteries
SNOMED CT:	Hereditary arterial and articular multiple calcification syndrome (718602007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	NT5E (6q14.3)

Monarch Initiative:	MONDO:0008895
OMIM®:	211800
Orphanet:	ORPHA289601

Definition

Adult-onset calcification of the lower extremity arteries (CALJA), including the iliac, femoral, and tibial arteries, and hand and foot capsule joints, is an autosomal recessive condition that represents only the second mendelian disorder of isolated calcification (see generalized arterial calcification of infancy (GACI), 208000). Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands (St. Hilaire et al., 2011). [from OMIM]

Clinical features

From HPO

Intermittent claudication

MedGen UID:: 7115
•Concept ID:: C0021775
•: Disease or Syndrome

Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.

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Coronary artery calcification