Details of Disease | DrugMAP

General Information of Disease (ID: DIS4AJAI)

Disease Name	Hereditary spastic paraplegia 42
Synonyms	spastic paraplegia 42, autosomal dominant; autosomal dominant spastic paraplegia type 42; hereditary spastic paraplegia type 42; SPG42; autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1; SLC33A1 autosomal dominant pure spastic paraplegia; autosomal dominant spastic paraplegia 42
Definition	Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.
Disease Hierarchy	DIS8X71E: Pure hereditary spastic paraplegia DIS4AJAI: Hereditary spastic paraplegia 42
Disease Identifiers	MONDO ID MONDO_0012928 MESH ID C567262 UMLS CUI C2675528 OMIM ID 612539 MedGen ID 393407 Orphanet ID 171863 SNOMED CT ID 763070001

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
SLC33A1	TTL69WB	Limited	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC33A1	DTDEWVR	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC33A1	OTZ01UJZ	Supportive	Autosomal dominant	[2]
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References

1	Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.
2	A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet. 2008 Dec;83(6):752-9. doi: 10.1016/j.ajhg.2008.11.003.