KEGG   DISEASE: PseudohypoparathyroidismHelp
Entry
H00244                      Disease                                

Name
Pseudohypoparathyroidism
Description
Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type Ib shows hypothyroidism due to resistance to TSH restricted to renal tubule cells.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Parathyroid diseases
   H00244  Pseudohypoparathyroidism
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the parathyroids or parathyroid hormone system
    5A50  Hypoparathyroidism
     H00244  Pseudohypoparathyroidism
BRITE hierarchy
Pathway
hsa04130 SNARE interactions in vesicular transport   
Network
nt06318  CaSR-PTH signaling
  Element
N00289  Mutation-inactivated GNAS to PTH-PTH1R-PKA signaling pathway
Gene
(Type Ia) GNAS (maternal inheritance) [HSA:2778] [KO:K04632]
(Type Ib) GNAS (loss of imprinting) [HSA:2778] [KO:K04632]
(Type Ib) STX16 (deletion) [HSA:8675] [KO:K08489]
Other DBs
ICD-11: 5A50.1
ICD-10: E20.1
MeSH: D011547
OMIM: 103580 603233 612462 612463
Reference
  Authors
Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A
  Title
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
  Journal
J Clin Endocrinol Metab 92:3738-42 (2007)
DOI:10.1210/jc.2007-0869
Reference
  Authors
Juppner H, Bastepe M
  Title
Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
  Journal
J Pediatr Endocrinol Metab 19 Suppl 2:641-6 (2006)
Reference
  Authors
Bastepe M, Juppner H
  Title
GNAS locus and pseudohypoparathyroidism.
  Journal
Horm Res 63:65-74 (2005)
DOI:10.1159/000083895
Reference
  Authors
Weinstein LS, Yu S, Warner DR, Liu J
  Title
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
  Journal
Endocr Rev 22:675-705 (2001)
DOI:10.1210/edrv.22.5.0439
LinkDB All DBs

» Japanese version

DBGET integrated database retrieval system