Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Vascular calcification

Various types of accelerated arterial calcification are caused by genetic disorders.

Systematic

Hereditary vascular disease
Arteriosclerosis
Diabetic microangiopathy 4
Hereditary Angioedema
Hereditary lymphedema
STING-associated vasculopathy with onset in infancy
Sneddon syndrome
Susceptibility to arteriovenous malformations of the brain
Thromboembolic diseases
Vascular calcification
Calciphylaxis
FGF23
NT5E
VDR
Generalized arterial calcification of infancy
Generalized arterial calcification of infancy 1
ENPP1
Generalized arterial calcification of infancy 2
ABCC6
Hereditary arterial and articular multiple calcification syndrome
NT5E
Vasculitis due to ADA2 deficiency

References:

1.

Anderson KA et al. (1985) Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations.

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2.

Thumbigere-Math V et al. (2018) Hypercementosis Associated with ENPP1 Mutations and GACI.

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3.

Ferreira CR et al. (2016) Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.

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4.

Li Q et al. (2012) Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.

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5.

None (1954) Heredo-familial vascular and articular calcification.

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6.

Sholler GF et al. (1984) Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival.

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7.

Milner LS et al. (1984) Hypertension as the major problem of idiopathic arterial calcification of infancy.

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8.

Marrott PK et al. () Idiopathic infantile arterial calcification with survival to adult life.

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9.

Maayan C et al. (1984) Idiopathic infantile arterial calcification: a case report and review of the literature.

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10.

Raphael SS et al. (1970) Arterial medial calcification of infancy in brothers.

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11.

None (1974) Idiopathic arterial calcification in infancy.

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12.

None (1970) Idiopathic infantile arterial calcification--a misnomer?

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13.

Meradji M et al. (1978) Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment.

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14.

St Hilaire C et al. (2011) NT5E mutations and arterial calcifications.

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15.

Van Dyck M et al. (1989) Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement.

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16.

Stuart G et al. (1990) Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate.

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17.

Rutsch F et al. (2008) Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

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18.

Cheng KS et al. (2005) Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

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19.

MORAN JJ et al. (1959) Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature.

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20.

HUNT AC et al. (1957) Generalized arterial calcification of infancy.

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21.

Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

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22.

Okawa A et al. (1998) Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine.

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23.

Dlamini N et al. (2009) Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

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24.

Rutsch F et al. (2001) PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.

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25.

Lorenz-Depiereux B et al. (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

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26.

Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

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Update: Aug. 14, 2020
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