Spinal muscular atrophy, type II

Preferred Label : Spinal muscular atrophy, type II;

Symbol : SMA2;

CISMeF acronym : SMA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sma II; Muscular atrophy, spinal, intermediate type; Muscular atrophy, spinal, infantile chronic form;

Description : Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetric muscle weakness and atrophy. SMA is the second most common lethal, autosomal recessive disease in Caucasians after cystic fibrosis (CF; 219700) (Wirth, 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the survival of motor neuron 1 gene (SMN1, 600354.0002);

Prefixed ID : #253550;

Details

Origin ID

253550;

UMLS CUI

C0393538;

Automatic exact mappings (from CISMeF team)
- Late infantile spinal muscular atrophy, Type II [ICD-11 Subcategory]
- Muscular atrophy, spinal, infantile chronic form [MeSH concept]
- S-MA2 solution [MeSH Supplementary Concept]
- SMN1 wt Allele [NCIt concept]
- Small Nuclear Ribonucleoprotein F [NCIt concept]
- Spinal muscular atrophy type II [MedDRA LLT]
- intermediate spinal muscular atrophy [DO Concept]
- spinal muscular atrophies of childhood [MeSH Descriptor]
- survival of motor neuron 1, telomeric [ORDO Gene]
- survival of motor neuron 1, telomeric [HGNC gene]
Broader ORDO disease(s)
- Proximal spinal muscular atrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Proximal spinal muscular atrophy type 2 [ORDO Disease]
- Spinal Muscular Atrophy Type 2 [NCIt concept]
- Spinal muscular atrophy, type II (disorder) [SNOMED CT concept]
- muscular atrophy, spinal, type II [MeSH concept]
- spinal muscular atrophy type II [Disease (Nov.)]
DO Cross reference
- intermediate spinal muscular atrophy [DO Concept]
Genes related to phenotype
- Survival of motor neuron 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Degeneration of anterior horn cells [HPO term]
- EMG abnormality [HPO term]
- Hand tremor [HPO term]
- Muscle weakness [HPO term]
- Recurrent respiratory infections [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spinal muscular atrophy [HPO term]
- Tongue fasciculation/fibrillation [HPO term]
- Tongue fasciculations [HPO term]
ORDO concept(s)
- Proximal spinal muscular atrophy [ORDO Disease]
- Proximal spinal muscular atrophy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Proximal spinal muscular atrophy type 2 [ORDO Disease]
- Spinal Muscular Atrophy Type 2 [NCIt concept]
- Spinal muscular atrophy type II [MedDRA LLT]
- Spinal muscular atrophy, type II (disorder) [SNOMED CT concept]
- intermediate spinal muscular atrophy [DO Concept]
- muscular atrophy, spinal, type II [MeSH concept]
- spinal muscular atrophy type II [Disease (Nov.)]

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