" /> Osseous heteroplasia, progressive - CISMeF





Preferred Label : Osseous heteroplasia, progressive;

Symbol : POH;

CISMeF acronym : POH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectopic ossification, familial; Osteoma cutis;

Description : Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia (Kaplan et al., 1994). The molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see 103580) that is often not seen in patients with POH. Bastepe and Juppner (2005) suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (GNAS1, 139320.0011);

Prefixed ID : #166350;

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27/07/2025


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