autosomal recessive inherited pseudoxanthoma elasticum
Findings
No curated finding names autosomal recessive inherited pseudoxanthoma elasticum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive form of PXE.
Definition from the Mondo Disease Ontology (MONDO:0009925), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
54 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Retinal peau d'orangeHPOHP:0033027
- 9 of 9 reported patients · Juvenile onset
- Frequent (30% to 79% of cases)
- Angioid streaksHPOHP:0001102
- 38 of 40 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Very frequent (80% to 99% of cases)
- Abnormality of the skinHPOHP:0000951
- Very frequent (80% to 99% of cases)
- Arterial stenosisHPOHP:0100545
- Very frequent (80% to 99% of cases)
Show the remaining 42
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- Hyperpigmented papuleHPOHP:0025473
- Frequent (30% to 79% of cases)
- Intermittent claudicationHPOHP:0004417
- 2 of 16 reported patients
- 2 of 26 reported patients · Adult onset
- Frequent (30% to 79% of cases)
- Redundant skinHPOHP:0001582
- Frequent (30% to 79% of cases)
- Striae distensaeHPOHP:0001065
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCC6HGNC:57
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Semidominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- ENPP1HGNC:3356
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: autosomal recessive inherited pseudoxanthoma elasticum
- Also called
- AR inherited pseudoxanthoma elasticumGronblad-Strandberg syndromeGronblad-Strandberg-Touraine syndrome