Details of Disease

General Information of Disease (ID: DISYCWUG)

• Disease Name: Spinal muscular atrophy, type 1
• Synonyms: spinal muscular atrophy, type I; proximal spinal muscular atrophy, type 1; SMA, infantile acute form; muscular atrophy, infantile; proximal spinal muscular atrophy type 1; spinal muscular atrophy 1; infantile spinal muscular atrophy; spinal muscular atrophies of childhood; infantile muscular atrophy; progressive muscular atrophy of infancy; SMA1; HMN (hereditary motor neuropathy) proximal type I; SMA type 1; severe infantile spinal muscular atrophy; Werdnig Hoffmann disease; SMNI; SMA type I; Werdnig-Hoffmann disease; survival motor neuron spinal muscular atrophy; Werdnig-Hoffmann Disease; Werdnig-Hoffman disease; spinal muscular atrophy-1; hereditary motor neuropathy proximal type I; SMA-I
• Definition: A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive 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
  DISYCWUG: Spinal muscular atrophy, type 1
• Disease Identifiers:
  MONDO ID: MONDO_0009669
  MESH ID: D014897
  UMLS CUI: C0043116
  OMIM ID: 253300
  MedGen ID: 21913
  Orphanet ID: 83330
  SNOMED CT ID: 64383006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AVPR2	TTK8R02	Strong	Biomarker	[1]
UBA1	TTXHWA7	Strong	Genetic Variation	[2]
SMN1	TT8QL6X	Definitive	Autosomal recessive	[3]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Strong	Altered Expression	[4]
COIL	OTP4I4DL	Strong	Biomarker	[5]
GTF2H2	OTK72L9I	Strong	Altered Expression	[6]
GTF2H3	OT87W5QJ	Strong	Altered Expression	[6]
GTF2H5	OTRL219S	Strong	Altered Expression	[6]
IGFALS	OTTWCZYM	Strong	Biomarker	[7]
IGHMBP2	OTAZFPF5	Strong	Biomarker	[8]
NAIP	OTLA925F	Strong	GermlineModifyingMutation	[9]
TBCD	OTS4JKNQ	Strong	Biomarker	[10]
SMN1	OT54RLO1	Definitive	Autosomal recessive	[3]

References

• [1] Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.J Med Genet. 1978 Jun;15(3):219-21. doi: 10.1136/jmg.15.3.219.
• [2] Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet. 2008 Jan;82(1):188-93. doi: 10.1016/j.ajhg.2007.09.009.
• [3] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [4] Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thringen).Hum Genet. 1993 Apr;91(3):295-7. doi: 10.1007/BF00218278.
• [5] Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.Histochem Cell Biol. 2012 May;137(5):657-67. doi: 10.1007/s00418-012-0921-8. Epub 2012 Feb 1.
• [6] The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.Am J Hum Genet. 1997 Jan;60(1):72-9.
• [7] Involvement of the Onuf nucleus in Werdnig-Hoffmann disease.Neurology. 1982 Aug;32(8):880-4. doi: 10.1212/wnl.32.8.880.
• [8] An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).Eur J Med Genet. 2018 Oct;61(10):602-606. doi: 10.1016/j.ejmg.2018.04.001. Epub 2018 Apr 11.
• [9] Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.Kobe J Med Sci. 2002 Apr;48(1-2):25-31.
• [10] TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.J Hum Genet. 2017 Apr;62(4):473-480. doi: 10.1038/jhg.2016.149. Epub 2016 Dec 8.