Acrodysostosis 1 with or without hormone resistance
Findings
No curated finding names Acrodysostosis 1 with or without hormone resistance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.
Definition from the Mondo Disease Ontology (MONDO:0007044), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
25 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.
- Accelerated skeletal maturationHPOHP:0005616
- 3 of 3 reported patients
- BrachydactylyHPOHP:0001156
- 8 of 8 reported patients
- Cone-shaped epiphyses of the phalanges of the handHPOHP:0010230
- 5 of 5 reported patients
- Decreased growth hormone responses to growth hormone-releasing hormone challengeHPOHP:0033579
- 2 of 2 reported patients
- Elevated circulating calcitonin concentrationHPOHP:0003528
- 2 of 2 reported patients
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 8 of 8 reported patients
Show the remaining 13
- Short metatarsalHPOHP:0010743
- 5 of 5 reported patients
- Short palmHPOHP:0004279
- 2 of 2 reported patients
- Short phalanx of fingerHPOHP:0009803
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 9 of 10 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 4 reported patients · Male
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 6 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.
- PRKAR1AHGNC:9388
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Acrodysostosis 1 with or without hormone resistance
- Also called
- Acrodysostosis 1Acrodysostosis 1, with or without hormone resistanceADOHR