pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
MONDO:0018577Mondo
Findings
No curated finding names pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
11 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.
- Cutis laxaHPOHP:0000973
- Obligate (100% of cases)
- NyctalopiaHPOHP:0000662
- Obligate (100% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Obligate (100% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Very frequent (80% to 99% of cases)
- Absent retinal pigment epitheliumHPOHP:0007980
- Very frequent (80% to 99% of cases)
- Attenuation of retinal blood vesselsHPOHP:0007843
- Very frequent (80% to 99% of cases)
- Increased number of skin foldsHPOHP:0007522
- Very frequent (80% to 99% of cases)
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- Redundant skinHPOHP:0001582
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Abnormal fundus morphologyHPOHP:0001098
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- GGCXHGNC:4247
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
- Also called
- PXE-like syndrome with retinitis pigmentosa