Albright's Hereditary Osteodystrophy

Common Name(s)

Albright's Hereditary Osteodystrophy

Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The features of Albright's hereditary osteodystrophy are associated with resistance to parathyroid hormone (pseudohypoparathyroidism) and to other hormones (thyroid-stimulation hormone, in particular). This autosomal dominantly inherited condition is caused by mutations in the GNAS gene.  Treatment consists of calcium and vitamin D supplements.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Albright's Hereditary Osteodystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Albright's Hereditary Osteodystrophy" returned 12 free, full-text research articles on human participants. First 3 results:

Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism.
 

Author(s): N Rahmat, P Venables

Journal:

 

Albright's hereditary osteodystrophy (AHO) is a rare inherited syndrome involving the molecular defects in the gene encoding the α subunit of the stimulatory G protein (Gsα). AHO has several variants, mainly pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP). ...

Last Updated: 31 Dec 1969

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Images in clinical medicine. Albright's hereditary osteodystrophy.
 

Author(s): Arturo R Rolla, Rene Rodriguez-Gutierrez

Journal: N. Engl. J. Med.. 2012 Dec;367(26):2527.

 

Last Updated: 31 Dec 1969

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Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy.
 

Author(s): Helena Lee, Periyasamy Kumar, James Deane

Journal:

 

A 47-year-old woman presented with bilateral gradual loss of vision, ocular discomfort and seeing a black shadow in her right visual field over 6 months duration. Her medical history was extensive including: developmental delay, pseudohypoparathyroidism, hypertension, spinal stenosis, ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Albright's Hereditary Osteodystrophy" returned 2 free, full-text review articles on human participants. First 3 results:

Albright's hereditary osteodystrophy.
 

Author(s): L C Wilson, R C Trembath

Journal: J. Med. Genet.. 1994 Oct;31(10):779-84.

 

Last Updated: 31 Dec 1969

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Imprinting in Albright's hereditary osteodystrophy.
 

Author(s): S J Davies, H E Hughes

Journal: J. Med. Genet.. 1993 Feb;30(2):101-3.

 

Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1A; Albright Hereditary Osteodystrophy

 

Last Updated: 14 Aug 2017

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Theophylline Treatment for Pseudohypoparathyroidism
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy

 

Last Updated: 18 Jul 2018

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Resistance to Vitamin D or Parathyroid Hormone
 

Status: Recruiting

Condition Summary: Hypocalcemia; Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy; Rickets

 

Last Updated: 8 Aug 2018

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