KEGG   DISEASE: Congenital arthrogryposis with anterior horn cell disease
Entry
H01030                      Disease                                
Name
Congenital arthrogryposis with anterior horn cell disease
Description
Congenital arthrogryposis with anterior horn cell disease (CAAHD), formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence (FADS), multiple contractures and facial anomalies. Motor neuron loss is also present in patients with CAAHD.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01030  Congenital arthrogryposis with anterior horn cell disease
Gene
GLE1 [HSA:2733] [KO:K18723]
Comment
Lethal congenital contracture syndrome 1 (LCCS1, H00865) is an allelic disorder of LAAHD.
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q68.8
MeSH: C567502
OMIM: 611890 253310
Reference
PMID:7821908
  Authors
Vuopala K, Ignatius J, Herva R
  Title
Lethal arthrogryposis with anterior horn cell disease.
  Journal
Hum Pathol 26:12-9 (1995)
DOI:10.1016/0046-8177(95)90109-4
Reference
  Authors
Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
  Title
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
  Journal
Nat Genet 40:155-7 (2008)
DOI:10.1038/ng.2007.65
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