tumor predisposition syndrome 2
MONDO:0859267Mondo
Findings
No curated finding names tumor predisposition syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
8 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.
- Acute myeloid leukemiaHPOHP:0004808
- 3 of 3 reported patients · Young adult onset
- 4 of 8 reported patients
- Adenomatous colonic polyposisHPOHP:0005227
- 1 of 1 reported patient · Middle age onset
- 2 of 3 reported patients
- 7 of 7 reported patients
- Colon cancerHPOHP:0003003
- 1 of 1 reported patient · Middle age onset
- 1 of 8 reported patients
- Ductal carcinoma in situHPOHP:0030075
- 1 of 4 reported patients
- Juvenile type ovarian granulosa cell tumorHPOHP:0031919
- 1 of 4 reported patients
- Uveal melanomaHPOHP:0007716
- 2 of 8 reported patients
- MeningiomaHPOHP:0002858
- 1 of 8 reported patients
- SchwannomaHPOHP:0100008
- 1 of 8 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.
- MBD4HGNC:6919
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: tumor predisposition syndrome 2
- Also called
- MANSMBD4-associated neoplasia syndromeMBD4-related recessive tumor predisposition syndromeTPDS2