Singleton-Merten syndrome 2
Findings
No curated finding names Singleton-Merten syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.
Definition from the Mondo Disease Ontology (MONDO:0014575), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- Osteolytic defects of the phalanges of the handHPOHP:0009771
- 8 of 8 reported patients
- GlaucomaHPOHP:0000501
- 10 of 11 reported patients
- Aortic valve calcificationHPOHP:0004380
- 5 of 7 reported patients
- Psoriasiform lesionHPOHP:0025526
- 7 of 11 reported patients
- Short statureHPOHP:0004322
- 2 of 11 reported patients
- Aortic valve stenosisHPOHP:0001650
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.
- RIGIHGNC:19102
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Limited · G2P · Autosomal dominant · 2023
Where it sits
Other names
3 names
Resolves to: Singleton-Merten syndrome 2
- Also called
- DDX58 singleton-Merten dysplasiasingleton-Merten dysplasia caused by mutation in DDX58singleton-Merten syndrome type 2