Details of Disease | DrugMAP

General Information of Disease (ID: DISPN7D2)

Disease Name	Inherited neurodegenerative disorder
Synonyms	genetic neurodegenerative disease; hereditary neurodegenerative disease; hereditary neurodegenerative disorder
Definition	An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISM20FF: Neurodegenerative disease DISPN7D2: Inherited neurodegenerative disorder
Disease Identifiers	MONDO ID MONDO_0024237 UMLS CUI C5680568 MedGen ID 1825988 Orphanet ID 183500

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
KIF5A	TTCJPAH	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC5A6	DTD5Y4G	Moderate	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC5A6	OT77CX29	Moderate	Autosomal recessive	[2]
KIF5A	OT3ETTI6	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ Genom Med. 2019 Nov 14;4:28. doi: 10.1038/s41525-019-0103-x. eCollection 2019.