brachydactyly type A1D
MONDO:0014798Mondo
Findings
No curated finding names brachydactyly type A1D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.
Definition from the Mondo Disease Ontology (MONDO:0014798), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Aplasia/Hypoplasia of the middle phalanx of the 2nd fingerHPOHP:0009568
- 2 of 2 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- Short distal phalanx of the 2nd fingerHPOHP:0009566
- 2 of 2 reported patients
- Short distal phalanx of the thumbHPOHP:0009650
- 2 of 2 reported patients
- Short middle phalanx of the 5th fingerHPOHP:0004220
- 2 of 2 reported patients
- Short proximal phalanx of fingerHPOHP:0010241
- 2 of 2 reported patients
- Short proximal phalanx of thumb
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.
- BMPR1BHGNC:1077
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: brachydactyly type A1D
- Also called
- BDA1DBMPR1B brachydactyly type A1brachydactyly type A1 caused by mutation in BMPR1Bbrachydactyly, type A1, D