Spastic paraplegia 34, X-linked

Preferred Label : Spastic paraplegia 34, X-linked;

Symbol : SPG34;

CISMeF acronym : SPG34;

Type : Phenotype or locus, molecular basis unknown;

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. A locus for spastic paraplegia-34 has been mapped to Xq24-q25 (Starling et al., 2002). For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see 303350.;

Inheritance : X-linked recessive;

Prefixed ID : %300750;

Details

Origin ID

300750;

UMLS CUI

C2677897;

Currated CISMeF NLP mapping
- X-linked spastic paraplegia type 34 [ICD-11 More detail]
- X-linked spastic paraplegia type 34 [ORDO Disease]
- X-linked spastic paraplegia type 34 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 34 [DO Concept]
- spastic paraplegia 34, X-Linked [MeSH concept]
- spastic paraplegia 34, X-Linked [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 34 [DO Concept]
HPO term(s)
- Babinski sign [HPO term]
- Clonus [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibratory sensation [HPO term]
- Paraplegia [HPO term]
- Slowly progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked spastic paraplegia type 34 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked spastic paraplegia type 34 [ORDO Disease]
- X-linked spastic paraplegia type 34 (disorder) [SNOMED CT concept]
- spastic paraplegia 34, X-Linked [MeSH Supplementary Concept]
- spastic paraplegia 34, X-Linked [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients