Preferred Label : Arterial calcification, generalized, of infancy, 1;
Symbol : GACI1;
CISMeF acronym : GACI; GACI1; IIAC;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Idiopathic infantile arterial calcification; Arterial calcification, idiopathic infantile; Arteriopathy, occlusive infantile; GACI; IIAC;
Included titles and symbols : Coronary sclerosis, medial, of infancy;
Description : Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive
disorder characterized by calcification of the internal elastic lamina of muscular
arteries and stenosis due to myointimal proliferation. GACI is often fatal within
the first 6 months of life because of myocardial ischemia resulting in refractory
heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). - Genetic Heterogeneity
of Arterial Calcification Generalized arterial calcification of infancy-2 (GACI2;
614473) is caused by mutation in the ABCC6 gene (603234) on chromosome 16p13.11. Homozygous
or compound heterozygous mutation in the NT5E gene (129190) can cause adult-onset
of calcification of arteries and joints (211800).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene
(ENPP1, 173335.0002);
Prefixed ID : #208000;
Origin ID : 208000;
UMLS CUI : C4551985;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)