Albright hereditary osteodystrophy

(redirected from Albright's hereditary osteodystrophy)
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Al·bright he·red·i·tar·y os·te·o·dys·tro·phy

(al'brīt), [MIM*103580, MIM*300800, MIM*203330]
an inherited form of hyperparathyroidism associated with ectopic calcification, ossification, and skeletal defects, notably in the small fourth metacarpals; intelligence may be normal or subnormal. Inheritance is heterogeneous; the autosomal form [MIM*103580] is caused by mutation in the guanine nucleotide-binding protein gene (GNAS1) on 20q. There are also the recessive [MIM*203330] and X-linked [MIM*300800] forms.
See also: pseudohypoparathyroidism.
Synonym(s): Albright syndrome (2)

Al·bright he·red·i·tar·y os·te·o·dys·tro·phy

(awl'brīt hĕr-ed'i-tar-ē os'tē-ō-dis'trŏ-fē)
An inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects, notably small fourth metacarpals; intelligence may be normal or subnormal. Inheritance is heterogeneous; the autosomal form is caused by mutation in the guanine nucleotide-binding protein gene (GNAS1) on 20q. There are the recessive and X-linked forms.
See also: pseudohypoparathyroidism
Synonym(s): Albright syndrome (2) .

Albright,

Fuller, U.S. physician, 1900-1969.
Albright disease - Synonym(s): McCune-Albright syndrome
Albright-Hadorn syndrome - softening and bending of bones associated with abnormally small concentration of potassium in blood.
Albright hereditary osteodystrophy - an inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects. Synonym(s): Albright syndrome (1)
Albright syndrome - (1) Synonym(s): Albright hereditary osteodystrophy - (2) Synonym(s): McCune-Albright syndrome
Albright IV syndrome - Synonym(s): Martin-Albright syndrome
Albright synovectomy
Forbes-Albright syndrome - see under Forbes, Anne P
Martin-Albright syndrome - see under Martin, August E
McCune-Albright syndrome - see under McCune

Al·bright he·red·i·tar·y os·te·o·dys·tro·phy

(awl'brīt hĕr-ed'i-tar-ē os'tē-ō-dis'trŏ-fē) [MIM*103580, 300800, 203330, MIM*103580, 300800, 203330]
Inherited form of hyperparathyroidism associated with ectopic calcification, ossification, and skeletal defects.
References in periodicals archive ?
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2007;92:2370-3.
PHP type 1a is characterized by the expression of the Gs[alpha] isoform only of the paternal GNAS gene, with resistance to other hormones rather than PTH and by the phenotype of Albright's hereditary osteodystrophy (AHO) with round facies, short stature, obesity, subcutaneous ossifications, brachydactyly, and in some cases mental retardation [3-5].
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? Clin Dysmorphol 1992;1:207-215.
Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds.
Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 1990;71:1208-1214.
An alteration in the coding sequence of the GNAS gene leads to a haplo-insufficiency and a dysmorphic phenotype referred to as Albright's syndrome or Albright's hereditary osteodystrophy (AHO).
(1) The primary form of osteoma cuffs occurs in about 25% of cases and is associated with certain genetic disorders such as Gardner's syndrome and Albright's hereditary osteodystrophy; it arises without a preexisting lesion?
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy. J Pediatr Endocrinol Metab 2006;19(Suppl 2):663-670.