arterial calcification, generalised, of infancy type 2

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arterial calcification, generalised, of infancy type 2

An autosomal recessive disorder (OMIM:614473) characterised 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 ischaemia resulting in refractory heart failure.

Molecular pathology
Caused by loss of function mutations in ABCC6, which encodes a protein of the superfamily of ATP-binding cassette transporters (which transport various molecules across cell membranes).
References in periodicals archive ?
AGALA 0.09 (0.04)a 0.06 (0.03)a altissima Festuca subverticillata FESU3 0.13 (0.13) -- Galium circaezans GACI2 0.11 (0.06)a 0.03 (0.03)a Galium concinnum GACO3 0.30 (0.15)a 0.08 (0.04)a Galium lanceolatum GALA3 0.03 (0.03)a 0.03 (0.02)a Galium triflorum GATR3 0.03 (0.03)a 0.03 (0.02)a Geum canadense GECA7 0.08 (0.08) -- Geranium maculatum GEMA 0.28 (0.12)a 0.06 (0.03)a Goodyera pubescens GOPU 0.03 (0.03)a 0.03 (0.02)a Hepatica nobilis var.