Albright hereditary osteodystrophy

The disease is cause by mutations or imprinting defects in the GNAS1 gene. The syndrome is characterized by pseudohypoparathyroidism and skeletal abnormalities associated sometimes with mental retardation.

Clinical Findings

The clinical symptoms of Albright hereditary osteodystrophy (AHO) include pseudohypoparathyroidism (PHP) (renal parathyroid hormone resistance) and disturbances of skeletal development (short stature, obesity, round face, intramembranous ossifications, brachydactyly, and other). PTH resistance accounts for hypocalcemia and hyperphosphatemia which is not amenable to PTH treatment.

The imprinting mechanism of this gene brings about that the disease occurs only when it is passed by a mother with mild clinical symptoms or a de novo mutation of the maternal allele. If the mutation is paternally inherited the symptoms are usually milder and the laboratory findings (calcium and phosphate) are normal. This condition is named pseudopseudohypoparathyroidism (PPHP).

Systematic

Hereditary bone disease
	Acro-renal-ocular syndrome
	Albright hereditary osteodystrophy
		GNAS
	Bone dysplasia
	Ehlers-Danlos syndrome due to tenascin-X deficiency
	Familial expansile osteolysis
	IVIC syndrome
	Juvenile Paget disease
	Kabuki syndrome
	Metabolic bone disease
	Osteoarthritis susceptibility 5