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McCune-Albright syndrome

Synonyms
Albright syndrome; Albright's Syndrome; Albright's disease; McCune-Albright syndrome, somatic, mosaic
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Fibrous Dysplasia / McCune-Albright Syndrome
Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway-associated G protein Gαs [Gs alpha subunit]), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gαs signaling is ubiquitous, additional tissues may be affected. Hyperpigmented skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to severe, disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; testicular lesions with or without associated gonadotropin-independent precocious puberty; thyroid lesions with or without non-autoimmune hyperthyroidism; growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and neonatal hypercortisolism.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Vivian Szymczuk
Pablo Florenzano
Luis F de Castro
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Available tests

56 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI, GNAS
    Summary: GNAS complex locus

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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