Details of Disease | DrugMAP

General Information of Disease (ID: DISYMV4O)

Disease Name	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Synonyms	FTDALS3; frontotemporal dementia and/or amyotrophic lateral sclerosis 3; frontotemporal dementia and/or amyotrophic lateral sclerosis type 3
Definition	An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.
Disease Hierarchy	DISPZM6A: Frontotemporal dementia with motor neuron disease DISWZ9CJ: Familial amyotrophic lateral sclerosis DISQHX2V: Behavioral variant of frontotemporal dementia DIS2B7L2: Frontotemporal dementia and/or amyotrophic lateral sclerosis DIS9L9IC: SQSTM1-related multisystem proteinopathy DISYMV4O: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Disease Identifiers	MONDO ID MONDO_0014640 UMLS CUI C4225326 OMIM ID 616437 MedGen ID 897127

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SQSTM1	TTOT2RY	Strong	Autosomal dominant	[1]
SQSTM1	TTOT2RY	Strong	Genetic Variation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MRNIP	OTIEU9NH	Strong	Genetic Variation	[2]
SQSTM1	OTGY5D5J	Strong	Autosomal dominant	[1]
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References

1	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.
2	Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.Hum Genet. 2015 Jan;134(1):53-65. doi: 10.1007/s00439-014-1488-3. Epub 2014 Sep 21.