arthrogryposis, distal, type 1A
MONDO:0007157Mondo
Findings
No curated finding names arthrogryposis, distal, type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Overlapping fingersHPOHP:0010557
- 14 of 15 reported patients
- Absent distal interphalangeal creasesHPOHP:0001032
- 11 of 15 reported patients
- Talipes equinovarusHPOHP:0001762
- 9 of 15 reported patients
- Ulnar deviation of the hand or of fingers of the handHPOHP:0001193
- 8 of 15 reported patients
- CamptodactylyHPOHP:0012385
- 6 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 15 reported patients
- Long nasal bridgeHPOHP:0033142
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.
- TPM2HGNC:12011
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: arthrogryposis, distal, type 1A
- Also called
- AMCDA1A