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
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.