Details of Disease | DrugMAP

General Information of Disease (ID: DIS4OCLQ)

Disease Name	Juvenile primary lateral sclerosis
Synonyms	primary lateral sclerosis, juvenile; PLS juvenile; Pls, juvenile; PLSJ; JPLS; juvenile PLS
Definition	Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
Disease Hierarchy	DIS1QTFG: ALS2-related motor neuron disease DISH30B8: Lateral sclerosis DIS4OCLQ: Juvenile primary lateral sclerosis
Disease Identifiers	MONDO ID MONDO_0011663 MESH ID C536416 UMLS CUI C1853396 OMIM ID 606353 MedGen ID 342870 Orphanet ID 247604 SNOMED CT ID 717964007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ERLIN2	OT551BVG	Supportive	Autosomal recessive	[1]
ALS2	OT8BAM04	Strong	Autosomal recessive	[2]
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References

1	Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol. 2012 Oct;72(4):510-6. doi: 10.1002/ana.23641.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.