Spastic paraplegia 30a, autosomal dominant

Preferred Label : Spastic paraplegia 30a, autosomal dominant;

Symbol : SPG30A;

CISMeF acronym : SPG30;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SPG30; Spastic paraplegia 30;

Description : SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Mildly impaired sensation and cerebellar involvement has been reported in 1 putatively affected family (summary by Erlich et al., 2011).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin family member 1A gene (KIF1A, 601255.0001);

Prefixed ID : #610357;

Détails

Origin ID

610357;

UMLS CUI

C5235139;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 30 [ICD-11 More detail]
- Autosomal spastic paraplegia type 30 [ORDO Disease]
- Autosomal spastic paraplegia type 30 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 30 [NCIt concept]
- hereditary spastic paraplegia 30 [DO Concept]
- spastic paraplegia 30, autosomal recessive [MeSH concept]
- spastic paraplegia 30, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 30 [DO Concept]
Genes related to phenotype
- Kinesin family member 1a [OMIM gene]
HPO term(s)
- Amyotrophy involving the lower limbs [HPO term]
- Ankle clonus [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar atrophy, mild [HPO term]
- Dysmetria [HPO term]
- Hyperreflexia [HPO term]
- Lower limb amyotrophy [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Slowly progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
ORDO concept(s)
- Autosomal spastic paraplegia type 30 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 30 [ICD-11 More detail]
- Autosomal spastic paraplegia type 30 [ORDO Disease]
- Autosomal spastic paraplegia type 30 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 30 [NCIt concept]
- hereditary spastic paraplegia 30 [DO Concept]
- spastic paraplegia 30, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 30, autosomal recessive [MeSH concept]

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