Spinal muscular atrophy, late-onset, finkel type

Preferred Label : Spinal muscular atrophy, late-onset, finkel type;

Symbol : SMAFK;

CISMeF acronym : SMAFK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Finkel late-adult type sma; Spinal muscular atrophy, proximal, adult, autosomal dominant;

Description : Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting. See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by defect in the SMN1 gene (600354), and autosomal dominant childhood-onset proximal SMA (158600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the vesicle-associated membrane protein-associated protein B gene (VAPB, 605704.0001);

Prefixed ID : #182980;

Details

Origin ID

182980;

UMLS CUI

C1854058;

Currated CISMeF NLP mapping
- Autosomal dominant adult-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder) [SNOMED CT concept]
- Autosomal dominant proximal spinal muscular atrophy, adult-onset [ICD-11 More detail]
- autosomal dominant adult-onset proximal spinal muscular atrophy [DO Concept]
- spinal muscular atrophy, Late-Onset, finkel type [MeSH concept]
- spinal muscular atrophy, Late-Onset, finkel type [MeSH Supplementary Concept]
- spinal muscular atrophy, proximal, adult, autosomal dominant [MeSH concept]
DO Cross reference
- autosomal dominant adult-onset proximal spinal muscular atrophy [DO Concept]
Genes related to phenotype
- Vamp-associated protein b and C [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- EMG: neuropathic changes [HPO term]
- Fasciculations [HPO term]
- Hyporeflexia [HPO term]
- Proximal muscle weakness [HPO term]
- Spinal muscular atrophy [HPO term]
ORDO concept(s)
- Autosomal dominant adult-onset proximal spinal muscular atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant adult-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder) [SNOMED CT concept]
- spinal muscular atrophy, Late-Onset, finkel type [MeSH Supplementary Concept]
- spinal muscular atrophy, Late-Onset, finkel type [MeSH concept]

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