Progressive osseous heteroplasia

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOMA CUTIS
ECTOPIC OSSIFICATION, FAMILIAL
POH
Familial ectopic ossification
Number of Symptoms 27
OrphanetNr: 2762
OMIM Id: 166350
ICD-10: M61.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Infantile onset
Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Unclassified dermis disorder
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000828) Abnormality of the parathyroid gland Occasional [Orphanet] 6 / 7739
2
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
3
 (HPO:0002758) Osteoarthritis Occasional [Orphanet] 78 / 7739
4
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
5
 (HPO:0010622) Neoplasm of the skeletal system Very frequent [Orphanet] 30 / 7739
6
 (HPO:0100246) Osteoma 5 / 7739
7
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
8
 (HPO:0100249) Calcification of muscles Frequent [Orphanet] 4 / 7739
9
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
10
 (HPO:0001510) Growth delay 295 / 7739
11
 (HPO:0000951) Abnormality of the skin 147 / 7739
12
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
13
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
14
 (HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
15
 (HPO:0003011) Abnormality of the musculature 47 / 7739
16
 (OMIM) Growth retardation of affected limbs due to heterotopic bone formation 1 / 7739
17
 (OMIM) Dermal ossification (osteoma cutis) 1 / 7739
18
 (MedDRA:10025421) Macule Occasional [Orphanet] 55 / 7739
19
 (OMIM) Heterotopic bone formation in subcutaneous fat 1 / 7739
20
 (HPO:0003621) Juvenile onset 105 / 7739
21
 (HPO:0003828) Variable expressivity 130 / 7739
22
 (OMIM) Heterotopic bone formation in dermis and subcutaneous fat 1 / 7739
23
 (HPO:0003593) Infantile onset 249 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (OMIM) Subcutaneous papules in infancy 1 / 7739
26
 (HPO:0003676) Progressive disorder 148 / 7739
27
 (HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Fawcett and Marsden (1983) reported osteoma cutis in 3 generations of a family. The 3-year-old proposita developed hard nodules in the skin at age 6 months. Skin biopsies showed multiple spicules of bone in the skin, which showed ...
Genotype-Phenotype Correlations OMIM Adegbite et al. (2008) reviewed the charts of 111 individuals with cutaneous and subcutaneous ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive ...
Molecular genetics OMIM Shore et al. (2002) identified heterozygous inactivating mutations in the GNAS1 gene (e.g., 139320.0024) in 13 of 18 probands with POH. The defective allele in POH was inherited exclusively from fathers, a result consistent with a model of ...