Calcification of joints and arteries

Preferred Label : Calcification of joints and arteries;

Symbol : CALJA;

CISMeF acronym : ACDC; CALJA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arterial calcification due to deficiency of cd73; ACDC;

Description : Adult-onset calcification of the lower extremity arteries, 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ecto-5-prime nucleotidase gene (NT5E, 129190.0001);

Prefixed ID : #211800;

Détails

Origin ID

211800;

UMLS CUI

C1859372;

Automatic exact mappings (from CISMeF team)
- 5'-nucleotidase ecto [ORDO Gene]
- 5'-nucleotidase ecto [HGNC gene]
- ADIPOQ wt Allele [NCIt concept]
- NT5E wt Allele [NCIt concept]
- chenodiol [SNOMED Notion]
Currated CISMeF NLP mapping
- Arterial Calcification due to Deficiency of CD73 [NCIt concept]
- Hereditary arterial and articular multiple calcification syndrome [ORDO Disease]
- Hereditary arterial and articular multiple calcification syndrome (disorder) [SNOMED CT concept]
- calcification of joints and arteries [Disease (Nov.)]
- calcification of joints and arteries [MeSH concept]
- calcification of joints and arteries [MeSH Supplementary Concept]
- hereditary arterial and articular multiple calcification syndrome [DO Concept]
DO Cross reference
- hereditary arterial and articular multiple calcification syndrome [DO Concept]
Genes related to phenotype
- Ecto-5-prime nucleotidase [OMIM gene]
HPO term(s)
- Coronary artery calcification [HPO term]
- Femoral arterial calcification [HPO term]
- Iliac arterial calcification [HPO term]
- Intermittent claudication [HPO term]
- Intervertebral disk calcification [HPO term]
- Tibial arterial calcification [HPO term]
ORDO concept(s)
- Hereditary arterial and articular multiple calcification syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arterial Calcification due to Deficiency of CD73 [NCIt concept]
- Hereditary arterial and articular multiple calcification syndrome (disorder) [SNOMED CT concept]
- calcification of joints and arteries [MeSH Supplementary Concept]
- calcification of joints and arteries [MeSH concept]
- calcification of joints and arteries [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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