KEGG   DISEASE: Vertebral hypersegmentation and orofacial anomalies
Entry
H02640                      Disease                                
Name
Vertebral hypersegmentation and orofacial anomalies
Description
Vertebral hypersegmentation and orofacial anomalies (VHO) is a new orofacial clefting syndrome characterized by vertebral and rib hypersegmentation. It has been reported that mutations in GDF11 cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD25  Syndromes with face or limb anomalies as a major feature
    H02640  Vertebral hypersegmentation and orofacial anomalies
Gene
GDF11 [HSA:10220] [KO:K22679]
Other DBs
ICD-11: LD25.Y
OMIM: 619122
Reference
PMID:31215115
  Authors
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T
  Title
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
  Journal
Hum Mutat 40:1813-1825 (2019)
DOI:10.1002/humu.23793
LinkDB

» Japanese version

DBGET integrated database retrieval system