Details of Disease

General Information of Disease (ID: DISZ100M)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2H
• Synonyms: muscular dystrophy limb-girdle type 2H; muscular dystrophy, Hutterite type; muscular dystrophy, limb-girdle, type 2H; limb-girdle muscular dystrophy type 2H; Sarcotubular myopathy; muscular dystrophy Hutterite type; sarcotubular myopathy; limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD2H; autosomal recessive limb-girdle muscular dystrophy type 2H; muscular dystrophy, limb-girdle, autosomal recessive 8; TRIM32 autosomal recessive limb-girdle muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
• Disease Hierarchy:
  DISRQKIX: Qualitative or quantitative defects of TRIM32
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISZ100M: Autosomal recessive limb-girdle muscular dystrophy type 2H
• Disease Identifiers:
  MONDO ID: MONDO_0009683
  MESH ID: C535897
  UMLS CUI: C0270968
  OMIM ID: 254110
  MedGen ID: 78750
  Orphanet ID: 1878
  SNOMED CT ID: 240064008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DTNBP1	OT9UQT2S	moderate	Biomarker	[1]
FKRP	OTMUZ7GH	moderate	Genetic Variation	[2]
ASTN2	OTF0W2FJ	Strong	CausalMutation	[3]
TRIM32	OTJOV0PG	Definitive	Autosomal recessive	[4]

References

• [1] TRIM32 is an E3 ubiquitin ligase for dysbindin.Hum Mol Genet. 2009 Jul 1;18(13):2344-58. doi: 10.1093/hmg/ddp167. Epub 2009 Apr 6.
• [2] Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6.
• [3] The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.Hum Mol Genet. 2011 Oct 15;20(20):3925-32. doi: 10.1093/hmg/ddr311. Epub 2011 Jul 20.
• [4] Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet. 2002 Mar;70(3):663-72. doi: 10.1086/339083. Epub 2002 Jan 29.