Preferred Label : Pseudohypoparathyroidism, type ib;
Symbol : PHP1B;
CISMeF acronym : PHP1B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Php ib;
Description : Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized
by resistance to parathyroid hormone (PTH; 168450). Pseudohypoparathyroidism type
Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia,
hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response
of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the
defect is restricted to renal tubule cells. In contrast to the findings in PHP Ia,
patients with PHP Ib usually lack the physical characteristics of Albright hereditary
osteodystrophy (AHO) and typically show no other endocrine abnormalities, although
resistance to thyroid-stimulating hormone (TSH; 188540) has been reported in PHP Ib
(Levine et al., 1983, Heinsimer et al., 1984). However, patients with PHP Ib may rarely
show some features of AHO (Mariot et al., 2008). For a general phenotypic description,
classification, and a discussion of molecular genetics of pseudohypoparathyroidism,
see PHP1A (103580).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the GNAS complex locus gene (GNAS, 139320.0031); Caused by mutation in the GNAS complex locus, antisense transcript (GNASAS, 610540.0001); Caused by mutation in the syntaxin 16 gene (STX16, 603666.0001);
Laboratory abnormalities : Low urinary cyclic AMP response to PTH administration; Hypocalcemia; Hyperphosphatemia; Elevated serum PTH; Normal erythrocyte Gs activity;
Prefixed ID : #603233;
Origin ID : 603233;
UMLS CUI : C1864100;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
