juvenile amyotrophic lateral sclerosis type 27

Summary
Definition
An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
Super Class
amyotrophic lateral sclerosis autosomal dominant disease
External Links
Disease Ontology
DOID:0081381
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 24 in total
HPO ID HPO Term
HP:0002650 Scoliosis
HP:0003307 Hyperlordosis
HP:0003323 Progressive muscle weakness
HP:0003324 Generalized muscle weakness
HP:0003376 Steppage gait
HP:0003391 Gowers sign
HP:0003621 Juvenile onset
HP:0003691 Scapular winging
HP:0003700 Generalized amyotrophy
HP:0007340 Lower limb muscle weakness
Displaying 1 entry
Gene ID Gene Symbol Description
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1

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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