KEGG DISEASE: Acrocallosal syndrome

DISEASE: Acrocallosal syndrome

Entry

H00263                      Disease

Name

Acrocallosal syndrome

Supergrp

Neuronal migration disorder [DS:H01835]

Description

Acrocallosal syndrome (ACLS) 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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06501  HH signaling
   H00263  Acrocallosal syndrome

Pathway

hsa04340

Hedgehog signaling pathway

Network

nt06501 HH signaling

Gene

KIF7 [HSA:374654] [KO:K18806]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:21633164

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

PMID:29321670

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

PMID:11857542

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

LinkDB

» Japanese version

DBGET integrated database retrieval system