Pseudopseudohypoparathyroidism

Pseudopseudohypoparathyroidism

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 29783
ICD10 =
ICD9 = ICD9|275.49
ICDO =
OMIM = 103580
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D011556

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 1A, which is caused by a similar defect on the corresponding maternal chromosome. However, unlike pseudohypoparathyroidism 1A, which presents with all the symptoms of hypoparathyroidism except the low parathyroid hormone levels, pseudopseudohypoparathyroidism presents only with the skeletal defects and none of the defects in calcium and phosphate homeostasis. [GPnotebook|-1060110313] Patients generally have normal calcium and phosphate levels and normal parathyroid hormone levels. As such, it is sometimes considered a variant of Albright hereditary osteodystrophy.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=]

Presentation

It has mild or no manifestations of hypoparathyroidism or tetanic convulsions.Fact|date=May 2008

Short stature may be present.cite journal |author=Riggs JE |title=Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions |journal=Mil Med |volume=162 |issue=7 |pages=510–2 |year=1997 |month=July |pmid=9232985 |doi= |url=]

Hormone resistance is not present.cite journal |author=Mouallem M, Shaharabany M, Weintrob N, "et al" |title=Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha |journal=Clin. Endocrinol. (Oxf) |volume=68 |issue=2 |pages=233–9 |year=2008 |month=February |pmid=17803690 |doi=10.1111/j.1365-2265.2007.03025.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0300-0664&date=2008&volume=68&issue=2&spage=233]

Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism.cite journal |author=Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL |title=Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity |journal=J. Clin. Endocrinol. Metab. |volume=92 |issue=3 |pages=1073–9 |year=2007 |month=March |pmid=17164301 |doi=10.1210/jc.2006-1497 |url=http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=17164301]

A mother who has inherited pseudopseudohypoparathyroidism from her father may in turn pass along pseudohypoparathyroidism 1A to her children as the imprinting pattern on the interited paternal chomosome will be changed to the maternal pattern in the mother's ovum during meiosis.

Linguistic significance

At 30 letters, the English name of the disorder is one of the candidates for being the longest word in English.cite web |url=http://www.askoxford.com/asktheexperts/faq/aboutwords/longestword?view=uk |title=AskOxford: What is the longest English word? |format= |work= |accessdate=]

ee also

* parathyroid hormone
* GNAS1

References


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Look at other dictionaries:

  • pseudopseudohypoparathyroidism — noun /ˌsjuː.dəʊˌsjuː.dəʊˌhaɪ.pəʊ.pær.əˈθaɪ.rɔɪd.ɪzəm,ˌsuː.doʊˌsuː.doʊˌhaɪ.poʊ.pær.əˈθaɪ.rɔɪd.ɪzəm/ A mild inherited condition in which the sufferer has symptoms similar to those of pseudohypoparathyroidism See Also: hypoparathyroidism,… …   Wiktionary

  • pseudopseudohypoparathyroidism — n. a condition in which all the symptoms of pseudohypoparathyroidism are present but the patient s response to parathyroid hormone is normal. It is often found in families affected with pseudohypoparathyroidism. * * *… …   Medical dictionary

  • pseudopseudohypoparathyroidism — n. a condition in which all the symptoms of pseudohypoparathyroidism are present but the patient s response to parathyroid hormone is normal. It is often found in families affected with pseudohypoparathyroidism …   The new mediacal dictionary

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  • PPHP — pseudopseudohypoparathyroidism …   Medical dictionary

  • PPHP — • pseudopseudohypoparathyroidism …   Dictionary of medical acronyms & abbreviations

  • ПСЕВДОПСЕВДОГИПОПАРАТИРЕОЗ — (pseudopseudohypoparathyroidism) состояние, при котором у человека имеются все симптомы псевдогипопаратиреоза, однако реакция организма на гормон, вырабатываемый паращитовидными железами, остается нормальной. Часто встречается в семьях, члены… …   Толковый словарь по медицине

  • Longest word in English — The identity of the longest word in English depends upon the definition of what constitutes a word in the English language, as well as how length should be compared. In addition to words derived naturally from the language s roots (without any… …   Wikipedia

  • Hypoparathyroidism — Classification and external resources ICD 10 E20, E89.2, P71.4 …   Wikipedia

  • GNAS1 — GNAS complex locus, also known as GNAS, is a human gene. PBB Summary section title = summary text = This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts… …   Wikipedia

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