pseudohypoparathyroidism
Sign in to savethumb | right | alt=Xray showing short metacarpals as may be seen in pseudohypoparathyroidism type 1a and 1c | Short metatarsals as may be seen in pseudohypoparathyroidism type 1a and 1c Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G proteins (in particular, Gs alpha subunit)
Key facts
- Medical condition (new).field
- Endocrinology
via Wikipedia infobox
Research
2,214 papers- Pseudohypoparathyroidism.Endocrinology and metabolism clinics of North America · 2018
- Pseudohypoparathyroidism.Minerva endocrinologica · 2018
- Pseudohypoparathyroidism.Annual review of medicine · 1983
- [Pseudohypoparathyroidism].Saishin igaku. Modern medicine · 1970
- [Pseudohypoparathyroidism].Przeglad lekarski · 2000
via PubMed
Wikidata facts
Show 8 more facts
- health specialty
- endocrinology
- NCI Thesaurus ID
- C99027
- Commons category
- Pseudohypoparathyroidism
- exact match
- www.orpha.net/ORDO/Orphanet_97593
- ICD-9-CM
- 275.49
- external data available at URL
- www.nanbyou.or.jp/entry/72
- genetic association
- GNAS
- on focus list of Wikimedia project
- WikiProject Medicine
via Wikidata · CC0
~4 min read
Encyclopedic overview
10 sectionsContents
- Types
- Presentation
- Related conditions
- Diagnosis
- Biochemical findings
- Treatment
- See also
- References
- Further reading
- External links
thumb | right | alt=Xray showing short metacarpals as may be seen in pseudohypoparathyroidism type 1a and 1c | Short metatarsals as may be seen in pseudohypoparathyroidism type 1a and 1c Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G proteins (in particular, Gs alpha subunit). Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100,000 population depending on geographic location.
==Types==
Excerpted from Wikipedia’s “pseudohypoparathyroidism” article, available under the CC BY-SA 4.0 licence.