KEGG   DISEASE: Short stature with nonspecific skeletal abnormalities
Entry
H02681                      Disease                                
Name
Short stature with nonspecific skeletal abnormalities
Description
Short stature with nonspecific skeletal abnormalities (SNSK) is characterized by short stature  defined as a height less than 2 SD below normal, no endocrine abnormalities. SNSK is caused by heterozygous mutation in the NPR2 gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 21 Symptoms, signs or clinical findings, not elsewhere classified
  General symptoms, signs or clinical findings
   General symptoms
    MG44  Symptoms peculiar to infancy
     H02681  Short stature with nonspecific skeletal abnormalities
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H02681  Short stature with nonspecific skeletal abnormalities
Pathway
hsa04022  cGMP-PKG signaling pathway
hsa04270  Vascular smooth muscle contraction
Network
nt06325 Hormone/cytokine signaling
Gene
NPR2 [HSA:4882] [KO:K12324]
Other DBs
ICD-11: MG44.14
ICD-10: E34.3
OMIM: 616255
Reference
PMID:24471569 (NPR2)
  Authors
Amano N, Mukai T, Ito Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T
  Title
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
  Journal
J Clin Endocrinol Metab 99:E713-8 (2014)
DOI:10.1210/jc.2013-3525
Reference
PMID:24001744 (NPR2)
  Authors
Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA
  Title
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.
  Journal
J Clin Endocrinol Metab 98:E1636-44 (2013)
DOI:10.1210/jc.2013-2142
LinkDB

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