Spastic paraplegia 4, autosomal dominant

Preferred Label : Spastic paraplegia 4, autosomal dominant;

Symbol : SPG4;

CISMeF acronym : FSP2; SPG4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FSP2; Familial spastic paraplegia, autosomal dominant, 2;

Description : The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated'). Pure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases (Svenson et al., 2001; Crippa et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the spastin gene (SPG4, 604277.0001);

Prefixed ID : #182601;

Details

Origin ID

182601;

UMLS CUI

C1866855;

Automatic exact mappings (from CISMeF team)
- spastin [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 4 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 4 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 4 (disorder) [SNOMED CT concept]
- Spastic paraplegia 4, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 4 [DO Concept]
- spastic paraplegia 4, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia type 4 [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 4 [DO Concept]
Genes related to phenotype
- Spastin [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Degeneration of the lateral corticospinal tracts [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Disinhibition [HPO term]
- Genetic anticipation [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Insidious onset [HPO term]
- Intellectual disability [HPO term]
- Low back pain [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Memory impairment [HPO term]
- Nystagmus [HPO term]
- Paraplegia [HPO term]
- Progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 4 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 4 (disorder) [SNOMED CT concept]
- Spastic paraplegia 4, autosomal dominant [MeSH concept]
- spastic paraplegia 4, autosomal dominant [MeSH Supplementary Concept]

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