Details of Disease

General Information of Disease (ID: DISYFHD8)

• Disease Name: Amyotrophic lateral sclerosis type 2, juvenile
• Synonyms: ALS, juvenile; amyotrophic lateral sclerosis 2; ALS2; ALS2 amyotrophic lateral sclerosis; amyotrophic lateral sclerosis caused by mutation in ALS2; amyotrophic lateral sclerosis 2, juvenile
• Definition: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.
• Disease Hierarchy:
  DIS1QTFG: ALS2-related motor neuron disease
  DISWZ9CJ: Familial amyotrophic lateral sclerosis
  DISKDZC9: Juvenile amyotrophic lateral sclerosis
  DISYFHD8: Amyotrophic lateral sclerosis type 2, juvenile
• Disease Identifiers:
  MONDO ID: MONDO_0008780
  MESH ID: C565957
  UMLS CUI: C1859807
  OMIM ID: 205100
  MedGen ID: 349246

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FUS	TTKGYZ9	Strong	Genetic Variation	[1]
SIGMAR1	TT5TPI6	Strong	Genetic Variation	[2]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SETX	OTG3JNOQ	Limited	Genetic Variation	[3]
ALS2CL	OT8RY7TZ	moderate	Biomarker	[4]
NIF3L1	OT4MP90J	Strong	Biomarker	[5]
SLC2A4RG	OTW3LX8D	Strong	Genetic Variation	[6]
SPG11	OTZ7LJX4	Strong	Genetic Variation	[7]
STRADB	OTUSF1A0	Strong	Biomarker	[5]
TRAK2	OTXVA7FN	Strong	Biomarker	[5]
ALS2	OT8BAM04	Definitive	Autosomal recessive	[8]

References

• [1] A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):298-301. doi: 10.1080/21678421.2016.1265564. Epub 2017 Jan 5.
• [2] GNE missense mutation in recessive familial amyotrophic lateral sclerosis.Neurogenetics. 2017 Dec;18(4):237-243. doi: 10.1007/s10048-017-0527-3. Epub 2017 Oct 31.
• [3] Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.Neurology. 2006 May 23;66(10):1580-1. doi: 10.1212/01.wnl.0000216135.59699.9b.
• [4] ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.FEBS Lett. 2004 Sep 24;575(1-3):64-70. doi: 10.1016/j.febslet.2004.07.092.
• [5] Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.Genomics. 2001 Jan 15;71(2):200-13. doi: 10.1006/geno.2000.6392.
• [6] Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis.Neurol Res. 2003 Jul;25(5):505-9. doi: 10.1179/016164103101201733.
• [7] Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):249-52. doi: 10.3109/21678421.2016.1143012. Epub 2016 Mar 14.
• [8] The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001 Oct;29(2):160-5. doi: 10.1038/ng1001-160.