KEGG   DISEASE: Acrocallosal syndromeHelp
Entry
H00263                      Disease                                

Name
Acrocallosal syndrome
  Supergrp
Neuronal migration disorder [DS:H01835]
Description
Acrocallosal syndrome is an autosomal recessive condition, characterized by agenesis of the corpus callosum, polydactyly, minor craniofacial anomalies and psychomotor retardation.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H00263  Acrocallosal syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H00263  Acrocallosal syndrome
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
Gene
KIF7 [HSA:374654] [KO:K18806]
Other DBs
ICD-11: LA05.3
ICD-10: Q04.0
MeSH: D055673
OMIM: 200990
Reference
  Authors
Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ
  Title
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
  Journal
J Clin Invest 121:2662-7 (2011)
DOI:10.1172/JCI43639
Reference
  Authors
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A
  Title
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
  Journal
Eur J Hum Genet 26:197-209 (2018)
DOI:10.1038/s41431-017-0019-9
Reference
  Authors
Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S
  Title
Spectrum of the acrocallosal syndrome.
  Journal
Am J Med Genet 108:7-11 (2002)
DOI:10.1002/ajmg.10236

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