Details of Disease

General Information of Disease (ID: DISNG3SD)

• Disease Name: Spinal muscular atrophy, type III
• Synonyms: Sma 3; SMA 3; proximal spinal muscular atrophy type 3; KWS; Kugelberg-Welander syndrome; pediatric spinal muscular atrophy; spinal muscular atrophy, type 3; spinal muscular atrophy of childhood; paediatric spinal muscular atrophy; muscular atrophy, juvenile; spinal muscular atrophy, mild childhood and adolescent form; juvenile spinal muscular atrophy; childhood spinal muscular atrophy; SMA type III; spinal muscular atrophy, type III; type III spinal muscular atrophy; spinal muscular atrophy III; Kugelberg-Welander disease; SMA type 3; spinal muscular atrophy, familial; spinal muscular atrophy, type III, modifier of; SMA-III; SMA3; Kugelberg Welander Syndrome; spinal muscular atrophy-3; spinal muscular atrophy type 3
• Definition: Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
• Disease Hierarchy:
  DIS0R70E: Proximal spinal muscular atrophy
  DISNG3SD: Spinal muscular atrophy, type III
• Disease Identifiers:
  MONDO ID: MONDO_0009672
  MESH ID: D014897
  UMLS CUI: C0152109
  OMIM ID: 253400
  MedGen ID: 101816
  Orphanet ID: 83419
  SNOMED CT ID: 54280009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
STMN1	TT7W5OT	moderate	Genetic Variation	[1]
HEXA	TTJI5JW	Strong	Genetic Variation	[2]
SMN1	TT8QL6X	Strong	Autosomal recessive	[3]
SMN1	TT8QL6X	Strong	Genetic Variation	[4]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NAIP	OTLA925F	moderate	Genetic Variation	[5]
SNRPN	OTQB1ID1	moderate	Genetic Variation	[1]
SMN1	OT54RLO1	Strong	Autosomal recessive	[3]
TK2	OTS1V4XB	Strong	Genetic Variation	[6]

References

• [1] A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.J Hum Genet. 2015 May;60(5):233-9. doi: 10.1038/jhg.2015.16. Epub 2015 Feb 26.
• [2] Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene.Ann Neurol. 1997 May;41(5):631-8. doi: 10.1002/ana.410410512.
• [3] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [4] Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy.Pediatr Neurol. 2017 Aug;73:78-87.e1. doi: 10.1016/j.pediatrneurol.2017.04.013. Epub 2017 Apr 20.
• [5] Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.J Zhejiang Univ Sci B. 2009 Jan;10(1):29-34. doi: 10.1631/jzus.B0820125.
• [6] Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.Arch Neurol. 2006 Aug;63(8):1122-6. doi: 10.1001/archneur.63.8.1122.