KEGG   DISEASE: Miura-type epiphyseal chondrodysplasia
Entry
H02679                      Disease                                
Name
Miura-type epiphyseal chondrodysplasia
Description
Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis. The disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13 and relates to defective natriuretic peptide signaling pathway.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H02679  Miura-type epiphyseal chondrodysplasia
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H02679  Miura-type epiphyseal chondrodysplasia
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: LD2C
ICD-10: Q87.3
OMIM: 615923
Reference
PMID:33073519
  Authors
Kenis V, Melchenko E, Mazunin I, Pekkinen M, Makitie O
  Title
A new family with epiphyseal chondrodysplasia type Miura.
  Journal
Am J Med Genet A 185:112-118 (2021)
DOI:10.1002/ajmg.a.61923
Reference
PMID:22870295 (NPR2)
  Authors
Miura K, Namba N, Fujiwara M, Ohata Y, Ishida H, Kitaoka T, Kubota T, Hirai H, Higuchi C, Tsumaki N, Yoshikawa H, Sakai N, Michigami T, Ozono K
  Title
An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.
  Journal
PLoS One 7:e42180 (2012)
DOI:10.1371/journal.pone.0042180
LinkDB

» Japanese version

DBGET integrated database retrieval system