hereditary spastic paraplegia 39

Summary
Synonym
  • NTE-related motor neuron disorder
  • NTEMND
  • SPG39
  • autosomal recessive spastic paraplegia 39
  • autosomal recessive spastic paraplegia type 39
  • spastic paraplegia due to NTE mutation
  • spastic paraplegia due to neuropathy target esterase mutation
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
51302 CYP39A1 cytochrome P450 family 39 subfamily A member 1
57704 GBA2 glucosylceramidase beta 2
84188 FAR1 fatty acyl-CoA reductase 1
85465 SELENOI selenoprotein I
113612 CYP2U1 cytochrome P450 family 2 subfamily U member 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0002061 Lower limb spasticity
HP:0007002 Motor axonal neuropathy
HP:0001272 Cerebellar atrophy
HP:0003487 Babinski sign
HP:0001258 Spastic paraplegia
HP:0006827 Atrophy of the spinal cord
HP:0001347 Hyperreflexia
HP:0009055 Generalized limb muscle atrophy
HP:0002066 Gait ataxia
HP:0001288 Gait disturbance
Displaying 1 entry
Gene ID Gene Symbol Description
10908 PNPLA6 patatin like phospholipase domain containing 6

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024