Pseudohypoparathyroidism, type II

Preferred Label : Pseudohypoparathyroidism, type II;

Symbol : PHP2;

CISMeF acronym : PHP2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Php II;

Description : Pseudohypoparathyroidism (PHP) is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone (PTH; 168450). PHP type II is characterized by a normal cAMP response to PTH infusion, but a deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. The clinical features of Albright hereditary osteodystrophy (AHO; see 103580) are not present in PHP II (Mantovani and Spada, 2006). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580).;

Inheritance : Isolated cases;

Laboratory abnormalities : Hypocalcemia; Hyperphosphatemia; Elevated serum parathyroid hormone (PTH) level; Normal or increased urinary cyclic AMP response to PTH administration;

Prefixed ID : %203330;

Details

Origin ID

203330;

UMLS CUI

C2932717;

Automatic exact mappings (from CISMeF team)
- 1-(1-phenylcyclohexyl)pyrrolidine [MeSH Supplementary Concept]
- ASAH1 wt Allele [NCIt concept]
- Pseudohypoparathyroidism Type 2 [MeSH concept]
- Pseudohypoparathyroidism type 2 [ORDO Disease]
- Pseudohypoparathyroidism type II (disorder) [SNOMED CT concept]
- pseudohypoparathyroidism type 2 [MeSH Supplementary Concept]
HPO term(s)
- Elevated circulating parathyroid hormone level [HPO term]
- Hyperphosphatemia [HPO term]
- Hypocalcemia [HPO term]
- Isolated cases [HPO term]
- Pseudohypoparathyroidism [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Pseudohypoparathyroidism type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoparathyroidism Type 2 [MeSH concept]
- Pseudohypoparathyroidism type 2 [ORDO Disease]
- Pseudohypoparathyroidism type II (disorder) [SNOMED CT concept]
- Secondary Parathyroid Hormone Resistance [NCIt concept]
- pseudohypoparathyroidism type 2 [MeSH Supplementary Concept]

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