KEGG   DISEASE: Tetra-ameliaHelp
Entry
H00636                      Disease                                

Name
Tetra-amelia
Description
Tetra-amelia is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00636  Tetra-amelia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    Congenital deformities of fingers or toes
     LB9B  Reduction defects of upper or lower limbs
      H00636  Tetra-amelia
BRITE hierarchy
Pathway
hsa04310  Wnt signaling pathway
Gene
WNT3 [HSA:7473] [KO:K00312]
Other DBs
ICD-11: LB9B
ICD-10: Q73.0
MeSH: C536498
OMIM: 273395
Reference
  Authors
Niemann S
  Title
Tetra-Amelia Syndrome
  Journal
GeneReviews (1993)
Reference
  Authors
Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U
  Title
Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.
  Journal
Am J Hum Genet 74:558-63 (2004)
DOI:10.1086/382196
Reference
  Authors
Al-Qattan MM
  Title
WNT pathways and upper limb anomalies.
  Journal
J Hand Surg Eur Vol 36:9-22 (2011)
DOI:10.1177/1753193410380502

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