Arterial calcification, generalized, of infancy, 2

Preferred Label : Arterial calcification, generalized, of infancy, 2;

Symbol : GACI2;

CISMeF acronym : GACI2;

Type : Phenotype, molecular basis known;

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). For a general phenotypic description and a discussion of genetic heterogeneity of GACI, see GACI1 (208000). Pseudoxanthoma elasticum (PXE; 264800) is an allelic disorder caused by mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, 603234.0001);

Prefixed ID : #614473;

Details

Origin ID

614473;

UMLS CUI

C3276161;

Automatic exact mappings (from CISMeF team)
- ABCC6 wt Allele [NCIt concept]
DO Cross reference
- arterial calcification of infancy [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily C, member 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congestive heart failure [HPO term]
- Coronary artery calcification [HPO term]
- Hypertension [HPO term]
- Hypophosphatemic rickets [HPO term]
- Myocardial infarction [HPO term]
- Nephrocalcinosis [HPO term]
ORDO concept(s)
- Generalized arterial calcification of infancy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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