Albright's hereditary osteodystrophy
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| Albright's hereditary osteodystrophy | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E20.1 |
| ICD-9-CM | 275.49 |
| OMIM | 103580 |
| DiseasesDB | 10835 |
| Patient UK | Albright's hereditary osteodystrophy |
Albright’s hereditary osteodystrophy consists of a constellation of features including a form of osteodystrophy,[1] that occur in pseudohypoparathyroidism type 1a.
Characteristics
The disorder is characterized by a lack of responsiveness to parathyroid hormone,[2] resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone.
Individuals with Albright’s hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild mental retardation.[3][4]
Albright’s hereditary osteodystrophy is commonly known as Pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. In fact, blood levels of parathyroid hormone are elevated in Pseudohypoparathyroidism due to the continued Hyperphosphatemia & Hypocalcemia.
Genetics
It is associated with epigenetic genetic imprinting.[5] Because of this the disease can occur when a mother with mild clinical symptoms or a de novo mutation of the maternal allele passes it to her offspring.
It is believed to be inherited in an autosomal dominant pattern.[6]
It is associated with a Gs alpha subunit deficiency.[7]
Eponym
The disorder bears the name of Fuller Albright, who characterized it in 1942.[8][9] He was also responsible for characterizing McCune-Albright syndrome as well as a number of other bone disorders.
He originally named it "Sebright Bantam syndrome", after the Sebright Bantam, which demonstrated an analogous hormone insensitivity.[10]
Much less commonly, the term "Martin-Albright syndrome" is used,[11] after the first author of a 1940 paper in a Swiss medical journal that may have described a case.[12][13]
See also
- Archibald's sign
- Brachydactyly mental retardation syndrome, a similar disease.
- List of radiographic findings associated with cutaneous conditions
- Pseudopseudohypoparathyroidism, the syndrome of GNAS paternal inheritance which results in similar dysmorphology but normal biochemistry.
References
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- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 103580
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- ↑ synd/164 at Who Named It?
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- ↑ synd/1654 at Who Named It?
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