pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
MONDO:0018657Mondo
Findings
No curated finding names pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
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.
- AlopeciaHPOHP:0001596
- 2 of 2 reported patients
- Alopecia of scalpHPOHP:0002293
- 2 of 2 reported patients
- Hypermelanotic maculeHPOHP:0001034
- 2 of 2 reported patients
- Nail dystrophyHPOHP:0008404
- 2 of 2 reported patients
- Conjunctival telangiectasiaHPOHP:0000524
- 1 of 2 reported patients
- Dry skinHPOHP:0000958
- 1 of 2 reported patients
- FrecklingHPOHP:0001480
- 1 of 2 reported patients
- Hypomelanotic maculeHPOHP:0009719
- 1 of 2 reported patients
- Multinodular goiterHPOHP:0005987
- 1 of 2 reported patients
- Scaling skinHPOHP:0040189
- 1 of 2 reported patients
- Spontaneous tooth lossHPOHP:0006480
- 1 of 2 reported patients
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.
- SASH1HGNC:19182
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
- A kind of