Spastic paraplegia 26, autosomal recessive

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;

Détails

Origin ID

609195;

UMLS CUI

C1836632;

Automatic exact mappings (from CISMeF team)
- B4GALNT1 wt Allele [NCIt concept]
- symbol withdrawn SPG26 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 26 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 26 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 26 (disorder) [SNOMED CT concept]
- Spastic paraplegia 26, autosomal recessive [MeSH concept]
- hereditary spastic paraplegia 26 [DO Concept]
- spastic paraplegia 26, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 26 [DO Concept]
Genes related to phenotype
- Beta-1,4-n-acetylgalactosaminyltransferase 1 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cataract [HPO term]
- Cerebral cortical atrophy [HPO term]
- Decreased serum testosterone concentration [HPO term]
- Difficulty walking [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Emotional lability [HPO term]
- Frequent falls [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability, mild [HPO term]
- Lower limb spasticity [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 26 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 26 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 26 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 26 (disorder) [SNOMED CT concept]
- Spastic paraplegia 26, autosomal recessive [MeSH concept]
- hereditary spastic paraplegia 26 [DO Concept]
- spastic paraplegia 26, autosomal recessive [MeSH Supplementary Concept]

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