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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessArterial calcification, infantile [generalized]; differential diagnosis


Short information

A curated panel containing 2 core candidate genes and altogether 5 curated genes for the comprehensive analysis of the genetically caused forms of generalised, infantile arterial calcification

Number of genes
2 Accredited laboratory test
Examined sequence length
2,8 kb (Core-/Core-canditate-Genes)
4,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension

NT5E mutations cause usually adult onset calcification of joints and arteries, possibly starting in the second decade already.

ABCC6: Arterial calcification, generalized, of infancy, 2

ENPP1: Arterial calcification, generalized, of infancy, 1


  • Alias Arterial calcification, idiopathic infantile
  • Alias: Arteriopathy, occlusive infantile
  • Alias: Idiopathic infantile arterial calcification
  • Alias: Idiopathic obliterative arteriopathy
  • Alias: Infantile arteriosclerosis
  • Alias: Occlusive infantile arteriopathy
  • Allelic: Cole disease [guttate hypopigmentation + punctate palmopantar keratoma] (ENPP1)
  • Allelic: Diabetes mellitus, non-insulin-dependent, susceptibility to (ENPP1)
  • Allelic: Hypophosphatemic rickets, AR, 2 (ENPP1)
  • Allelic: Obesity, susceptibility to (ENPP1)
  • Allelic: Pseudoxanthoma elasticum (ABCC6)
  • Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
  • Arterial calcification, generalized, of infancy, 1 (ENPP1)
  • Arterial calcification, generalized, of infancy, 2 (ABCC6)
  • Calcification of joints + arteries [often later onset] (NT5E)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Guttate hypopigmentation, punctate palmoplatar keratoderma +/- ectopic cxalcification (ENPP1)
  • Pseudo-TORCH syndrome 1 (OCLN)
Heredity, heredity patterns etc.
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined