Details of Disease | DrugMAP

General Information of Disease (ID: DISDPDCR)

Disease Name	Hereditary spastic paraplegia 64
Synonyms	spastic paraplegia 64, autosomal recessive; ENTPD1 autosomal recessive complex spastic paraplegia; autosomal recessive spastic paraplegia 64; hereditary spastic paraplegia type 64; autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1; SPG64; autosomal recessive spastic paraplegia type 64
Definition	An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
Disease Hierarchy	DIS9KXQY: Complex hereditary spastic paraplegia DISDPDCR: Hereditary spastic paraplegia 64
Disease Identifiers	MONDO ID MONDO_0014303 UMLS CUI C3810289 OMIM ID 615683 MedGen ID 816619 Orphanet ID 401810 SNOMED CT ID 726609005

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
ENTPD1	TTYM8DJ	moderate	Biomarker	[1]
ENTPD1	TTYM8DJ	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ENTPD1	OT6E2OW6	Strong	Autosomal recessive	[2]
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References

1	The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24.
2	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.