Autosomal recessive inherited pseudoxanthoma elasticum: genes and variants

Genes linked to Autosomal recessive inherited pseudoxanthoma elasticum

• ABCC6: ATP-binding cassette sub-family C member 6

  Its ATP-dependent transport activity in liver and other tissues is required indirectly for maintaining extracellular pyrophosphate, a major inhibitor of inappropriate mineralization. Loss-of-function variants cause pseudoxanthoma elasticum and can promote calcification of skin, retina, and arteries.

  67 disease-causing and 294 uncertain variants in ABCC6 are linked to Autosomal recessive inherited pseudoxanthoma elasticum.

Where Autosomal recessive inherited pseudoxanthoma elasticum variants cluster

• ABCC6 Cytoplasmic (positions 1105–1175): 11 of 67 disease-causing changes, 3.5× more than its size predicts.
• ABCC6 Cytoplasmic (positions 1220–1503): 25 of 67 disease-causing changes, 2.0× more than its size predicts.
• ABCC6 ABC transporter 1 (positions 629–853): 17 of 67 disease-causing changes, 1.7× more than its size predicts.
• ABCC6 Cytoplasmic (positions 371–426): 4 of 67 disease-causing changes, 1.6× more than its size predicts.

Known disease-causing variants in Autosomal recessive inherited pseudoxanthoma elasticum

Showing 60 of 67.

Uncertain variants in Autosomal recessive inherited pseudoxanthoma elasticum that look disease-causing

Which prediction tools work for Autosomal recessive inherited pseudoxanthoma elasticum

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• REVEL: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CATVariant: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CADD: 96 out of 100
• PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 94 out of 100
• phyloP: 90 out of 100

Diseases related to Autosomal recessive inherited pseudoxanthoma elasticum

• Arterial calcification, generalized, of infancy, 2, also linked to ABCC6
• Pseudoxanthoma elasticum, forme fruste, also linked to ABCC6
• Optic atrophy, also linked to ABCC6

Frequently asked questions

Which genes are linked to Autosomal recessive inherited pseudoxanthoma elasticum?

In CATVariant, Autosomal recessive inherited pseudoxanthoma elasticum is linked to 1 analyzed protein: ABCC6 (ATP-binding cassette sub-family C member 6).

How many genetic variants are linked to Autosomal recessive inherited pseudoxanthoma elasticum?

401 variants: 67 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 294 are of uncertain significance or have conflicting reports.

Which uncertain variants in Autosomal recessive inherited pseudoxanthoma elasticum look disease-causing?

6 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example ABCC6 G663S, ABCC6 S1403I, ABCC6 G1321D, ABCC6 R1339L and ABCC6 Q1406H. These are leads for expert review, not diagnoses.

Which variant effect predictor works best for Autosomal recessive inherited pseudoxanthoma elasticum?

Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.96, based on 51 disease-causing and 36 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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