Details of Disease

General Information of Disease (ID: DISHY37K)

• Disease Name: Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• Synonyms: spinal muscular atrophy, childhood, proximal, autosomal dominant; spinal muscular atrophy, juvenile, proximal, autosomal dominant; Sma-led; Kugelberg-Welander syndrome, autosomal dominant; spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant; SMALED1; Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures; spinal muscular atrophy, lower extremity-predominant 1, AD
• Disease Hierarchy:
  DISRCF6M: Autosomal dominant childhood-onset proximal spinal muscular atrophy
  DISHY37K: Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
• Disease Identifiers:
  MONDO ID: MONDO_0008026
  MESH ID: C563560
  UMLS CUI: C1834690
  MedGen ID: 322470
  Orphanet ID: 209341
  SNOMED CT ID: 772129007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BICD2	OTVJ03NZ	Strong	Genetic Variation	[1]
DYNC1H1	OTD1KRKO	Definitive	Autosomal dominant	[2]

References

• [1] Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.Muscle Nerve. 2016 Sep;54(3):496-500. doi: 10.1002/mus.25114. Epub 2016 Jul 9.
• [2] Expanding the phenotypic spectrum associated with mutations of DYNC1H1. Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5.