Spinal muscular atrophy, type III

Preferred Label : Spinal muscular atrophy, type III;

Symbol : SMA3;

CISMeF acronym : KWS; SMA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular atrophy, juvenile; Kugelberg-welander syndrome; Spinal muscular atrophy, mild childhood and adolescent form; KWS; Sma III;

Description : SMA is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness and atrophy affecting the upper and lower limbs. By convention, SMA is classified into 4 types: I (SMA1; 253300), II (SMA2; 253550), III (SMA3), and IV (271150), by increasing age at onset and decreasing clinical severity. SMA1 is the most severe form of the disorder and often results in death in early childhood. SMA3, known as the juvenile form, tends to show onset in childhood or adolescence (summary by Fraidakis et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the survival of motor neuron 1 gene (SMN1, 600354.0003);

Prefixed ID : #253400;

Details

Origin ID

253400;

UMLS CUI

C0152109;

Automatic exact mappings (from CISMeF team)
- GUSB pseudogene 14 [HGNC gene]
- SMN1 wt Allele [NCIt concept]
- Small Nuclear Ribonucleoprotein F [NCIt concept]
- Spinal muscular atrophy type III [MedDRA LLT]
- 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
- Juvenile form spinal muscular dystrophy, Type III [ICD-11 Subcategory]
- Kugelberg-Welander disease [MedDRA LLT]
- Kugelberg-Welander disease [ICD-9 code]
- Kugelberg-Welander disease [PASCAL descriptor]
- Kugelberg-Welander disease (disorder) [SNOMED CT concept]
- Proximal spinal muscular atrophy type 3 [ORDO Disease]
- Spinal Muscular Atrophy Type 3 [NCIt concept]
- Spinal muscular atrophy (disorder) [SNOMED CT concept]
- juvenile spinal muscular atrophy [DO Concept]
- juvenile spinal muscular atrophy [MeSH concept]
- kugelberg-welander disease [SNOMED Notion]
- spinal muscular atrophy type III [Disease (Nov.)]
DO Cross reference
- juvenile spinal muscular atrophy [DO Concept]
False automatic mappings
- Kuwait [NCIt concept]
Genes related to phenotype
- Survival of motor neuron 1 [OMIM gene]
- Survival of motor neuron 2 [OMIM gene]
HPO term(s)
- Areflexia of lower limbs [HPO term]
- Autosomal recessive inheritance [HPO term]
- Degeneration of anterior horn cells [HPO term]
- EMG abnormality [HPO term]
- Hand tremor [HPO term]
- Hyporeflexia [HPO term]
- Limb fasciculations [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [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 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile form spinal muscular dystrophy, Type III [ICD-11 Subcategory]
- Kugelberg-Welander disease [MedDRA LLT]
- Kugelberg-Welander disease [ICD-9 code]
- Kugelberg-Welander disease (disorder) [SNOMED CT concept]
- Proximal spinal muscular atrophy type 3 [ORDO Disease]
- Spinal Muscular Atrophy Type 3 [NCIt concept]
- Spinal muscular atrophy type III [MedDRA LLT]
- juvenile spinal muscular atrophy [MeSH concept]
- juvenile spinal muscular atrophy [DO Concept]
- kugelberg-welander disease [SNOMED Notion]
- spinal muscular atrophy type III [Disease (Nov.)]

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