Arterial calcification, generalized, of infancy, 1

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;

Details

Origin ID

208000;

UMLS CUI

C4551985;

Automatic exact mappings (from CISMeF team)
- coronary sclerosis, medial, of infancy [MeSH Supplementary Concept]
- coronary sclerosis, medial, of infancy [MeSH concept]
Currated CISMeF NLP mapping
- Generalized Arterial Calcification of Infancy 1 [NCIt concept]
DO Cross reference
- arterial calcification of infancy [DO Concept]
Genes related to phenotype
- Ectonucleotide pyrophosphatase/phosphodiesterase 1 [OMIM gene]
HPO term(s)
- Abdominal aortic calcification [HPO term]
- Ankylosis [HPO term]
- Arterial stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Carotid artery calcification [HPO term]
- Congenital onset [HPO term]
- Congestive heart failure [HPO term]
- Coronary artery calcification [HPO term]
- Dilated cardiomyopathy [HPO term]
- Fetal distress [HPO term]
- Generalized arterial calcification [HPO term]
- Growth abnormality [HPO term]
- Hypertension [HPO term]
- Hypophosphatemic rickets [HPO term]
- Myocardial infarction [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Periarticular calcification [HPO term]
- Renal artery stenosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Generalized arterial calcification of infancy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arterial calcification of infancy [MeSH concept]
- Generalized Arterial Calcification of Infancy 1 [NCIt concept]
- Generalized arterial calcification of infancy [ORDO Disease]
- arterial calcification of infancy [MeSH Supplementary Concept]
- arterial calcification of infancy [DO Concept]
- generalized arterial calcification of infancy [Disease (Nov.)]
Validated automatic mappings to NTBT
- Arterial calcification of infancy [MeSH concept]
- Generalized arterial calcification of infancy [ORDO Disease]
- arterial calcification of infancy [DO Concept]
- arterial calcification of infancy [MeSH Supplementary Concept]
- complicated intra-abdominal infections [Indication]
- generalized arterial calcification of infancy [Disease (Nov.)]

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