Details of Disease

General Information of Disease (ID: DISOHTWF)

• Disease Name: Progressive osseous heteroplasia
• Synonyms: osseous heteroplasia, progressive; ectopic ossification, familial; osteoma cutis; ectopic ossification familial type; poh; familial ectopic ossification
• 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.
• Disease Hierarchy:
  DISSAFPH: Disorder of GNAS inactivation
  DIS4SKIE: Dermis disorder
  DISSCALK: Hereditary skin disorder
  DISOHTWF: Progressive osseous heteroplasia
• Disease Identifiers:
  MONDO ID: MONDO_0008153
  MESH ID: C562735
  UMLS CUI: C0334041
  OMIM ID: 166350
  MedGen ID: 137714
  HPO ID: HP:0025027
  Orphanet ID: 2762
  SNOMED CT ID: 404074003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNAS	OTMH8BKJ	Strong	Autosomal dominant	[1]

References

• [1] Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002 Jan 10;346(2):99-106. doi: 10.1056/NEJMoa011262.