xeroderma pigmentosum group A
Findings
No curated finding names xeroderma pigmentosum group A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.
Definition from the Mondo Disease Ontology (MONDO:0010210), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
7 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.
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Distal sensory impairmentHPOHP:0002936
- 1 of 1 reported patient
- Erythematous papuleHPOHP:0030350
- 1 of 1 reported patient
- Hypermelanotic maculeHPOHP:0001034
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 1 of 1 reported patient
- Squamous cell carcinoma of the skinHPOHP:0006739
- 1 of 1 reported patient
- Verrucous epidermal nevusHPOHP:0034275
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.
- XPAHGNC:12814
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
9 names
Resolves to: xeroderma pigmentosum group A
- Also called
- xeroderma pigmentosum 1xeroderma pigmentosum caused by mutation in XPAxeroderma pigmentosum group type Axeroderma pigmentosum, complementation group type axeroderma pigmentosum, group AXP-AXP1XPAXPA xeroderma pigmentosum