Lethal arthrogryposis - anterior horn cell disease

General Information (adopted from Orphanet):

Synonyms, Signs: LAAHD
Vuopala disease
Number of Symptoms 9
OrphanetNr: 53696
OMIM Id: 611890
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Arthrogryposis multiplex congenita
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck 345 / 7739
2
(HPO:0000369) Low-set ears 372 / 7739
3
(HPO:0006802) Abnormal anterior horn cell morphology 2 / 7739
4
(HPO:0007277) Paucity of anterior horn motor neurons 2 / 7739
5
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
6
(HPO:0001989) Fetal akinesia sequence 14 / 7739
7
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
8
(HPO:0003811) Neonatal death 44 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vuopala et al. (1995) described 15 infants from 11 Finnish families with a phenotype of lethal arthrogryposis and anterior horn motor neuron loss. The clinical presentation was the fetal akinesia deformation sequence (FADS) with multiple contractures and facial ...
Molecular genetics OMIM To investigate whether LCCS1 and LAAHD represent allelic disorders, Nousiainen et al. (2008) screened 9 unrelated families with LAAHD for mutations in the GLE1 gene (603371) and identified 12 individuals with mutations. All 12 cases were compound heterozygotes: ...