Spastic paraplegia 6, autosomal dominant

Preferred Label : Spastic paraplegia 6, autosomal dominant;

Symbol : SPG6;

CISMeF acronym : FSP3; SPG6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FSP3; Familial spastic paraplegia, autosomal dominant, 3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nonimprinted gene in Prader-Willi syndrome/Angelman syndrome chromosome region-1 (NIPA1, 608145.0001);

Prefixed ID : #600363;

Détails

Origin ID

600363;

UMLS CUI

C1838192;

Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 6 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 6 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 6 (disorder) [SNOMED CT concept]
- Spastic paraplegia 6, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 6 [DO Concept]
- spastic paraplegia 6, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 6 [DO Concept]
Genes related to phenotype
- Nipa magnesium transporter 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Clonus [HPO term]
- Degeneration of the lateral corticospinal tracts [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Insidious onset [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Tremor [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Variable expressivity [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 6 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 6 (disorder) [SNOMED CT concept]
- Spastic paraplegia 6, autosomal dominant [MeSH concept]
- spastic paraplegia 6, autosomal dominant [MeSH Supplementary Concept]

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