sebocystomatosis
Findings
No curated finding names sebocystomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.
Definition from the Mondo Disease Ontology (MONDO:0008485), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Steatocystoma multiplexHPOHP:0012035
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Adenoma sebaceumHPOHP:0009720
- Very frequent (80% to 99% of cases)
- Kidney stoneHPOHP:0000787
- Occasional (5% to 29% of cases)
- Natal toothHPOHP:0000695
- 0 of 10 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.
- KRT17HGNC:6427
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: sebocystomatosis
- Also called
- Steatocystoma multiplex