Details of Disease

General Information of Disease (ID: DISSDHYG)

Disease Name Amyotrophic lateral sclerosis type 4
Synonyms
neuronopathy, distal hereditary motor, with pyramidal features; amyotrophic lateral sclerosis 4; ALS4; distal hereditary motor neuropathy with upper motor neuron signs; SETX amyotrophic lateral sclerosis; amyotrophic lateral sclerosis caused by mutation in SETX; dHMN with upper motor neuron signs; ALS 4; amyotrophic lateral sclerosis 4, juvenile; distal hereditary motor neuropathy with pyramidal features
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISSDHYG: Amyotrophic lateral sclerosis type 4
Disease Identifiers
MONDO ID
MONDO_0011223
MESH ID
C566550
UMLS CUI
C1865409
OMIM ID
602433
MedGen ID
355983
Orphanet ID
357043
SNOMED CT ID
784341001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BRD3 TTHE657 Limited Biomarker [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RALGDS OTG36NI7 Limited Biomarker [1]
DDX19A OTBTDR44 Strong Genetic Variation [2]
DDX46 OTB2X9TO Strong Genetic Variation [2]
DHX16 OTW8KZAU Strong Genetic Variation [2]
SETX OTG3JNOQ Definitive Autosomal dominant [3]
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References

1 A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34.Neurogenetics. 2000 Sep;3(1):1-6. doi: 10.1007/pl00022976.
2 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.