Spastic paraplegia 43, autosomal recessive

Preferred Label : Spastic paraplegia 43, autosomal recessive;

Symbol : SPG43;

CISMeF acronym : SPG43;

Type : Phenotype, molecular basis known;

Description : Spastic paraplegia-43 (SPG43) is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (summary by Meilleur et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 19 open reading frame 12 gene (C19ORF12, 614297.0006);

Prefixed ID : #615043;

Details

Origin ID

615043;

UMLS CUI

C2680446;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 43 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 43 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 43 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 43 [DO Concept]
Genes related to phenotype
- Chromosome 19 open reading frame 12 [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Distal amyotrophy [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Knee flexion contracture [HPO term]
- Muscle weakness [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 43 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 43 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 43 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 43 [DO Concept]

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