Pseudoxanthoma elasticum, forme fruste: genes and variants
Pseudoxanthoma elasticum, forme fruste is linked to 1 analyzed protein (ABCC6). 21 DNA variants are known to cause it; 216 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Pseudoxanthoma elasticum, forme fruste
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.
21 disease-causing and 216 uncertain variants in ABCC6 are linked to Pseudoxanthoma elasticum, forme fruste.
Where Pseudoxanthoma elasticum, forme fruste variants cluster
- ABCC6 Cytoplasmic (positions 1105–1175): 5 of 21 disease-causing changes, 5.0× more than its size predicts.
- ABCC6 Cytoplasmic (positions 1220–1503): 7 of 21 disease-causing changes, 1.8× more than its size predicts.
- ABCC6 ABC transporter 1 (positions 629–853): 5 of 21 disease-causing changes, 1.6× more than its size predicts.
Known disease-causing variants in Pseudoxanthoma elasticum, forme fruste
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABCC6 R1138Q | 1138 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R419Q | 419 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| ABCC6 R807W | 807 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R807Q | 807 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R1138W | 1138 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R1221H | 1221 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R1221C | 1221 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 G1302R | 1302 | ABC transporter 2 | Disease-causing (★★) |
| ABCC6 R419W | 419 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| ABCC6 R487Q | 487 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| ABCC6 R518Q | 518 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| ABCC6 G755R | 755 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R760W | 760 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 T811M | 811 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R1114C | 1114 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 T1130M | 1130 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R1235W | 1235 | Cytoplasmic | Disease-causing (★★) |
| ABCC6 R1314W | 1314 | ABC transporter 2 | Disease-causing (★★) |
| ABCC6 R1339H | 1339 | ABC transporter 2 | Disease-causing (★★) |
| ABCC6 R1164Q | 1164 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 E1400K | 1400 | ABC transporter 2 | Disease-causing (★★) |
Which prediction tools work for Pseudoxanthoma elasticum, forme fruste
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- REVEL: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 97 out of 100
- PolyPhen-2: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 94 out of 100
- phyloP: 89 out of 100
Same protein, different disease
- Autosomal recessive inherited pseudoxanthoma elasticum is also caused by ABCC6 variants; they fall mostly in different places as the Pseudoxanthoma elasticum, forme fruste variants (67 disease-causing).
- Arterial calcification, generalized, of infancy, 2 is also caused by ABCC6 variants; they fall mostly in different places as the Pseudoxanthoma elasticum, forme fruste variants (25 disease-causing).
Diseases related to Pseudoxanthoma elasticum, forme fruste
- Autosomal recessive inherited pseudoxanthoma elasticum, also linked to ABCC6
- Arterial calcification, generalized, of infancy, 2, also linked to ABCC6
- Optic atrophy, also linked to ABCC6
Frequently asked questions
Which genes are linked to Pseudoxanthoma elasticum, forme fruste?
In CATVariant, Pseudoxanthoma elasticum, forme fruste is linked to 1 analyzed protein: ABCC6 (ATP-binding cassette sub-family C member 6).
How many genetic variants are linked to Pseudoxanthoma elasticum, forme fruste?
250 variants: 21 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 216 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pseudoxanthoma elasticum, forme fruste look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Pseudoxanthoma elasticum, forme fruste?
Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.97, based on 21 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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