progressive osseous heteroplasia
Findings
No curated finding names progressive osseous heteroplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.
Definition from the Mondo Disease Ontology (MONDO:0008153), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Progressive
HPO, annotations 2026-09-02
Features
14 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.
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Ectopic calcificationHPOHP:0010766
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- Subcutaneous noduleHPOHP:0001482
- Very frequent (80% to 99% of cases)
- Ectopic ossification in muscle tissueHPOHP:0011987
- Frequent (30% to 79% of cases)
- Abnormality of the parathyroid gland
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.
- HGNC:4392HGNC:4392
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- No Known Disease Relationship · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
2 names
Resolves to: progressive osseous heteroplasia
- Also called
- familial ectopic ossificationPOH