Preferred Label : Spastic paraplegia 26, autosomal recessive;
Symbol : SPG26;
CISMeF acronym : SPG26;
Type : Phenotype, molecular basis known;
Description : SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized
by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity
and muscle weakness. Some patients have upper limb involvement. Additional features
include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs,
extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary
by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal
recessive SPG, see SPG5A (270800).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the beta-1,4-N-acetylgalactosaminyltransferase 1 gene (B4GALNT1,
601873.0001);
Prefixed ID : #609195;
Origin ID : 609195;
UMLS CUI : C1836632;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)