Details of Disease | DrugMAP

General Information of Disease (ID: DISBNUNW)

Disease Name	Hereditary spastic paraplegia 13
Synonyms	spastic paraplegia 13, autosomal dominant; spastic paraplegia 13; autosomal dominant spastic paraplegia type 13; autosomal dominant spastic paraplegia 13; SPG13; hereditary spastic paraplegia type 13; HSPD1 hereditary spastic paraplegia; hereditary spastic paraplegia caused by mutation in HSPD1
Definition	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DISBNUNW: Hereditary spastic paraplegia 13
Disease Identifiers	MONDO ID MONDO_0011532 MESH ID C537485 UMLS CUI C1854467 OMIM ID 605280 MedGen ID 344289 Orphanet ID 100994 SNOMED CT ID 783698005

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
HSPD1	TT9HL5R	Strong	Autosomal dominant	[1]
HSPD1	TT9HL5R	Definitive	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSPD1	OTTO1Y11	Strong	Autosomal dominant	[1]
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References

1	A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet. 2000 Feb;66(2):702-7. doi: 10.1086/302776.
2	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.