Osseous heteroplasia, progressive

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;

Détails

Origin ID

166350;

UMLS CUI

C0334041;

Automatic exact mappings (from CISMeF team)
- GNAS wt Allele [NCIt concept]
- Osteoma Cutis [NCIt concept]
- Osteoma cutis [ICD-11 More detail]
- Osteoma cutis [HPO term]
- Osteoma cutis [MedDRA Preferred Term]
- Osteoma cutis (disorder) [SNOMED CT concept]
- Osteoma cutis (morphologic abnormality) [SNOMED CT concept]
- Perillyl Alcohol [NCIt concept]
- osteoma cutis [SNOMED Notion]
- progressive osseous heteroplasia [DO Concept]
Currated CISMeF NLP mapping
- Progressive Heterotopic Heteroplasia [NCIt concept]
- Progressive osseous heteroplasia [PASCAL descriptor]
- Progressive osseous heteroplasia [ICD-11 Subcategory]
- Progressive osseous heteroplasia [ORDO Disease]
- Progressive osseous heteroplasia (disorder) [SNOMED CT concept]
- osseous heteroplasia, progressive [MeSH concept]
- osseous heteroplasia, progressive [MeSH Supplementary Concept]
- progressive osseous heteroplasia [Disease (Nov.)]
DO Cross reference
- progressive osseous heteroplasia [DO Concept]
Genes related to phenotype
- Gnas complex locus [OMIM gene]
HPO term(s)
- Abnormality of the musculature [HPO term]
- Abnormality of the skin [HPO term]
- Ankylosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Growth delay [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Osteoma [HPO term]
- Osteoma cutis [HPO term]
- Progressive [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Progressive osseous heteroplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteodermia [MedDRA LLT]
- Osteoma Cutis [NCIt concept]
- Osteoma cutis [MedDRA Preferred Term]
- Osteoma cutis [HPO term]
- Osteoma cutis (disorder) [SNOMED CT concept]
- Osteoma cutis (morphologic abnormality) [SNOMED CT concept]
- Progressive osseous heteroplasia [ORDO Disease]
- Progressive osseous heteroplasia [PASCAL descriptor]
- Progressive osseous heteroplasia (disorder) [SNOMED CT concept]
- osseous heteroplasia, progressive [MeSH Supplementary Concept]
- osseous heteroplasia, progressive [MeSH concept]
- osteoma cutis [SNOMED Notion]
- progressive osseous heteroplasia [Disease (Nov.)]
- progressive osseous heteroplasia [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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