H01030 | |
H number | H01030 |
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 |
Network | - |
Gene | GLE1 [HSA:2733] [KO:K18723] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
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 PMID:18204449 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 |