Pseudopseudohypoparathyroidism: Difference between revisions
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'''Pseudopseudohypoparathyroidism''' ('''pseudoPHP''') is an inherited disorder that is caused by a mutation in the [[G(s)alpha|G<sub>αs</sub>]] gene imprinted on the paternal chromosome. As such, a haploinsufficiency results similar to [[pseudohypoparathyroidism|pseudohypoparathyroidism IA]], which results from a similar defect on the corresponding maternal chromosome. However, unlike pseudohypoparathyroidism IA, which presents with all the symptoms of [[hypoparathyroidism]] except the low parathyroid hormone levels, pseudopseudohypoparathyroidism presents with |
'''Pseudopseudohypoparathyroidism''' ('''pseudoPHP''') is an inherited disorder that is caused by a mutation in the [[G(s)alpha|G<sub>αs</sub>]] gene imprinted on the paternal chromosome. As such, a haploinsufficiency results similar to [[pseudohypoparathyroidism|pseudohypoparathyroidism IA]], which results from a similar defect on the corresponding maternal chromosome. However, unlike pseudohypoparathyroidism IA, which presents with all the symptoms of [[hypoparathyroidism]] except the low parathyroid hormone levels, pseudopseudohypoparathyroidism presents with defects in calcium and phosphate homeostasis. <ref>{{GPnotebook|-1060110313}}</ref> It is sometimes considered a variant of [[Albright hereditary osteodystrophy]].<ref name="pmid1119829">{{cite journal |author=Solomon SS, Kerlan RM, King LE, Jones GM, Hashimoto K |title=Pseudopseudohypoparathyroidism with fibrous dysplasia |journal=Arch Dermatol |volume=111 |issue=1 |pages=90–3 |year=1975 |month=January |pmid=1119829 |doi= |url=}}</ref> |
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==Presentation== |
==Presentation== |
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Revision as of 12:52, 27 May 2008
| Pseudopseudohypoparathyroidism | |
|---|---|
| Specialty | Rheumatology, medical genetics, endocrinology  |
Pseudopseudohypoparathyroidism (pseudoPHP) is an inherited disorder that is caused by a mutation in the Gαs gene imprinted on the paternal chromosome. As such, a haploinsufficiency results similar to pseudohypoparathyroidism IA, which results from a similar defect on the corresponding maternal chromosome. However, unlike pseudohypoparathyroidism IA, which presents with all the symptoms of hypoparathyroidism except the low parathyroid hormone levels, pseudopseudohypoparathyroidism presents with defects in calcium and phosphate homeostasis. [1] It is sometimes considered a variant of Albright hereditary osteodystrophy.[2]
Presentation
It has mild or no manifestations of hypoparathyroidism or tetanic convulsions.[citation needed]
Short stature may be present.[3]
Hormone resistance is not present.[4]
Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism.[5]
Linguistic significance
At 30 letters, the English name of the disorder is one of the candidates for being the longest word in English.[6]
See also
References
- ^ . GPnotebook https://www.gpnotebook.co.uk/simplepage.cfm?ID=-1060110313.
{{cite web}}: Missing or empty|title=(help) - ^ Solomon SS, Kerlan RM, King LE, Jones GM, Hashimoto K (1975). "Pseudopseudohypoparathyroidism with fibrous dysplasia". Arch Dermatol. 111 (1): 90–3. PMID 1119829.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Riggs JE (1997). "Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions". Mil Med. 162 (7): 510–2. PMID 9232985.
{{cite journal}}: Unknown parameter|month=ignored (help) - ^ Mouallem M, Shaharabany M, Weintrob N; et al. (2008). "Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha". Clin. Endocrinol. (Oxf). 68 (2): 233–9. doi:10.1111/j.1365-2265.2007.03025.x. PMID 17803690.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL (2007). "Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity". J. Clin. Endocrinol. Metab. 92 (3): 1073–9. doi:10.1210/jc.2006-1497. PMID 17164301.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ "AskOxford: What is the longest English word?".
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