Details of Disease

General Information of Disease (ID: DIS2BI41)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type R18
• Synonyms: limb-girdle muscular dystrophy type 2S; autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11; muscular dystrophy, limb-girdle, autosomal recessive 18; autosomal recessive limb-girdle muscular dystrophy type 2S; LGMD2S; TRAPPC11 autosomal recessive limb-girdle muscular dystrophy; muscular dystrophy, limb-girdle, type 2S
• Definition: A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
• Disease Hierarchy:
  DISXZ0HQ: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DIS2BI41: Autosomal recessive limb-girdle muscular dystrophy type R18
• Disease Identifiers:
  MONDO ID: MONDO_0014144
  UMLS CUI: C4517996
  OMIM ID: 615356
  MedGen ID: 1385598
  Orphanet ID: 369840
  SNOMED CT ID: 732929002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRAPPC11	OTPZYXGA	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.