Details of Disease

General Information of Disease (ID: DIS9MUH1)

• Disease Name: Hereditary spastic paraplegia 39
• Synonyms: NTE related motor neuron disorder; spastic paraplegia 39; spastic paraplegia 39, autosomal recessive; hereditary spastic paraplegia type 39; spastic paraplegia due to NTE mutation; NTEMND; spastic paraplegia due to neuropathy target esterase mutation; NTE-related motor neuron disorder; SPG39; hereditary spastic paraplegia caused by mutation in PNPLA6; autosomal recessive spastic paraplegia type 39; autosomal recessive spastic paraplegia 39; PNPLA6 hereditary spastic paraplegia
• Definition: This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.
• Disease Hierarchy:
  DISPGGVL: Syndromic dyslipidemia
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISGZQV1: Hereditary spastic paraplegia
  DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
  DIS9MUH1: Hereditary spastic paraplegia 39
• Disease Identifiers:
  MONDO ID: MONDO_0012787
  MESH ID: C567433
  UMLS CUI: C2677586
  OMIM ID: 612020
  MedGen ID: 383142
  Orphanet ID: 139480
  SNOMED CT ID: 719103009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	TTWAQU2	Limited	Biomarker	[1]
PNPLA6	TTWAQU2	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	OTT5T45Q	Strong	Autosomal recessive	[2]

References

• [1] A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with BoucherNeuhuser syndrome.Mol Med Rep. 2018 Jul;18(1):261-267. doi: 10.3892/mmr.2018.8955. Epub 2018 May 3.
• [2] Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. Neurogenetics. 2013 Nov;14(3-4):181-8. doi: 10.1007/s10048-013-0366-9. Epub 2013 Jun 4.