Progressive Osseous Heteroplasia

From Anvita Health Wiki

Contents 1 Epidemiology 2 Pathology 3 Genetics 4 Clinical-manifestations 5 More General Terms 6 Internet Database 7 References

Epidemiology

• rare

Pathology

• defect in Ca+2 homeostasis

Genetics

• autosomal dominant
• associated with defects in GNAS

Clinical-manifestations

• extensive dermal ossification during childhood, followed by disabling & widespread heterotopic ossification of skeletal muscle & deep connective tissue

More General Terms

• genetic disease of the endocrine system
• metabolic disease

Internet Database

OMIM: 166350

References

OMIM [1]

somatotrophinoma (growth hormone secreting pituitary tumor)