Spastic paraplegia 2, X-linked

Preferred Label : Spastic paraplegia 2, X-linked;

Symbol : SPG2;

CISMeF acronym : SPG2; SPPX2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SPPX2;

Description : The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see 182600), and autosomal recessive (see 270800) forms of SPG have been described. For discussion of genetic heterogeneity of X-linked SPG, see 303350.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the proteolipid protein 1 gene (PLP1, 300401.0012);

Prefixed ID : #312920;

Details

Origin ID

312920;

UMLS CUI

C1839264;

Automatic exact mappings (from CISMeF team)
- PLP1 wt Allele [NCIt concept]
- symbol withdrawn SPG2 [HGNC gene]
Currated CISMeF NLP mapping
- Spastic paraplegia 2, X-linked [MeSH concept]
- Spastic paraplegia type 2 [ORDO Disease]
- X-linked spastic paraplegia type 2 [ICD-11 More detail]
- X-linked spastic paraplegia type 2 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 2 [DO Concept]
- spastic paraplegia 2, X-linked [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 2 [DO Concept]
Genes related to phenotype
- Proteolipid protein 1 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Babinski sign [HPO term]
- Degeneration of the lateral corticospinal tracts [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Flexion contracture [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pes cavus [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic gait [HPO term]
- Spastic paraparesis [HPO term]
- Spastic paraplegia [HPO term]
- Spinocerebellar tract degeneration [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Spastic paraplegia type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraplegia 2, X-linked [MeSH concept]
- Spastic paraplegia type 2 [ORDO Disease]
- X-linked spastic paraplegia type 2 (disorder) [SNOMED CT concept]
- spastic paraplegia 2, X-linked [MeSH Supplementary Concept]

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