KEGG   DISEASE: X-linked panhypopituitarism
Entry
H02038                      Disease                                
Name
X-linked panhypopituitarism
  Supergrp
Growth hormone deficiency [DS:H00254]
Hypopituitarism [DS:H01700]
Description
X-linked panhypopituitarism is a rare genetic condition characterized by hypopituitarism, delayed pubertal development, and short stature. Duplications and deletions of Xq26-27 including SOX3 have been implicated in the etiology of this disease.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain other specified disorders of pituitary gland
     H02038  X-linked panhypopituitarism
Gene
SOX3 [HSA:6658] [KO:K09267]
Other DBs
ICD-11: 5A61.0
MeSH: D007018
OMIM: 312000
Reference
PMID:15800844
  Authors
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT
  Title
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
  Journal
Am J Hum Genet 76:833-49 (2005)
DOI:10.1086/430134
Reference
PMID:11031100
  Authors
Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I
  Title
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
  Journal
Genomics 69:174-81 (2000)
DOI:10.1006/geno.2000.6327
Reference
PMID:29175558
  Authors
Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H
  Title
A complex phenotype in a family with a pathogenic SOX3 missense variant.
  Journal
Eur J Med Genet S1769-7212(17)30464-0 (2017)
DOI:10.1016/j.ejmg.2017.11.012
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