Spinal muscular atrophy, type iv

Preferred Label : Spinal muscular atrophy, type iv;

Symbol : SMA4;

CISMeF acronym : SMA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinal muscular atrophy, proximal, adult, autosomal recessive; Spinal muscular atrophy, adult form;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the survival of motor neuron 1 gene (SMN1, 600354.0011);

Prefixed ID : #271150;

Details

Origin ID

271150;

UMLS CUI

C1838230;

Automatic exact mappings (from CISMeF team)
- GUSB pseudogene 14 [HGNC gene]
- Other inherited spinal muscular atrophy [ICD-10 Sub-category]
- SMN1 wt Allele [NCIt concept]
- Spinal muscular atrophy type IV [MedDRA LLT]
- adult spinal muscular atrophy [DO Concept]
Broader ORDO disease(s)
- Proximal spinal muscular atrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Proximal spinal muscular atrophy type 4 [ORDO Disease]
- spinal muscular atrophy 4 [MeSH Supplementary Concept]
- spinal muscular atrophy type IV [Disease (Nov.)]
- spinal muscular atrophy, type IV [MeSH concept]
- spinal muscular atrophy, type IV [MeSH Supplementary Concept]
DO Cross reference
- adult spinal muscular atrophy [DO Concept]
Genes related to phenotype
- Survival of motor neuron 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia of lower limbs [HPO term]
- Autosomal recessive inheritance [HPO term]
- Degeneration of anterior horn cells [HPO term]
- EMG: neuropathic changes [HPO term]
- Hand tremor [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Spinal muscular atrophy [HPO term]
- Tongue fasciculations [HPO term]
ORDO concept(s)
- Proximal spinal muscular atrophy [ORDO Disease]
- Proximal spinal muscular atrophy type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Proximal spinal muscular atrophy type 4 [ORDO Disease]
- Spinal muscular atrophy type IV [MedDRA LLT]
- adult spinal muscular atrophy [DO Concept]
- spinal muscular atrophy, type IV [MeSH Supplementary Concept]
- spinal muscular atrophy, type IV [MeSH concept]

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