Progressive osseous heteroplasia
Synonyms: Familial ectopic ossification · POH
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Progressive osseous heteroplasia (POH) is 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, and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of <i>GNAS</i> 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive osseous heteroplasia | Familial ectopic ossification · POH |
| fr | Hétéroplasie osseuse progressive | HOP · Ossification ectopique familiale |
| de | Heteroplasie, progressive ossäre | Knöcherne Heteroplasie, progressive · Ossifikation, ektopische, familiäre Form · POH |
| es | Heteroplasia ósea progresiva | HOP · Osificación ectópica familiar |
| it | Eteroplasia ossea progressiva | Ossificazione ectopica familiare · POH |
| nl | Progressieve ossale heteroplasie | Familiale ectopische ossificatie · POH |
| pt | Heteroplasia óssea progressiva | Ossificação ectópica familiar · POH |
| pl | Postępująca heteroplazja kostna | Rodzinne kostnienie ektopowe |
| cs | Progresivní kostní heteroplázie | Familiární ektopická osifikace · POH |
| uk | Прогресуюча кісткова гетероплазія | Сімейне ектопічеа окостеніння · POH |
| zh | 进行性骨发育异常 | 家族性异位骨化 |
| tr | İlerleyici kemik heteroplazi | POH · Ailesel ektopik kemikleşme |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166350 | E | validated | |
| ICD-10 | M61.5 | NTBT | attributed | validated |
| ICD-11 | FB31.0 | E | specific | validated |
| MONDO | 0008153 | E | validated | |
| MeSH | C562735 | E | validated | |
| UMLS | C0334041 | E | validated | |
| GARD | 109 | E | validated | |
| MedDRA | 10048902 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:364531Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4392 | ENSG00000087460 | 139320 | 20q13.32 | GNAS complex locus | 14723729[PMID]_20427508[PMID]_17321228[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 78 cases | Worldwide | Case(s) | Validated | 25894639[PMID]_18553568[PMID]_12605446[PMID]_11092390[PMID]_10998448[PMID]_7671486[PMID]_3126297[PMID]_37003989[PMID]_32832452[PMID]_35035755[PMID]_36936194[PMID]_39678607[PMID]_36483469[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25894639[PMID]_18553568[PMID]_12605446[PMID]_11092390[PMID]_10998448[PMID]_7671486[PMID]_3126297[PMID]_37003989[PMID]_32832452[PMID]_35035755[PMID]_36936194[PMID]_39678607[PMID]_36483469[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002653 | Bone pain | |
| HP:0010766 | Ectopic calcification | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0011987 | Ectopic ossification in muscle tissue | |
| Occasional (29-5%) | ||
| HP:0000828 | Abnormality of the parathyroid gland | |
| HP:0001156 | Brachydactyly | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0012733 | Macule | |
| HP:0002758 | Osteoarthritis | |
| HP:0200034 | Papule | |
| HP:0100242 | Sarcoma | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2762
- This record as JSON: /data/d/2762.json