Details of Disease

General Information of Disease (ID: DIS2BGID)

• Disease Name: Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
• Synonyms: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2; MDDGB2; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; muscular dystrophy, congenital, Pomt2-related; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2; congenital muscular dystrophy-POMT2 related
• Definition: An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.
• Disease Hierarchy:
  DISRHLQP: Myopathy caused by variation in POMT2
  DISO11D5: Muscular dystrophy-dystroglycanopathy, type B
  DIS2BGID: Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
• Disease Identifiers:
  MONDO ID: MONDO_0013160
  UMLS CUI: C3150416
  OMIM ID: 613156
  MedGen ID: 461766

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POMT2	OTO1ZQZX	Moderate	Autosomal recessive	[1]
B4GAT1	OT5NH9TD	Strong	Biomarker	[2]
FKRP	OTMUZ7GH	Strong	Biomarker	[3]
FKTN	OTQ9GCXL	Strong	Biomarker	[4]
LARGE1	OTUH7H9F	Strong	Biomarker	[5]
POMGNT1	OTBNOUZC	Strong	Biomarker	[3]

References

• [1] 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.
• [2] Dystroglycan organizes axon guidance cue localization and axonal pathfinding.Neuron. 2012 Dec 6;76(5):931-44. doi: 10.1016/j.neuron.2012.10.009.
• [3] Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.Brain Pathol. 2016 Jul;26(4):465-78. doi: 10.1111/bpa.12306. Epub 2015 Oct 12.
• [4] Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Hum Mol Genet. 2009 Feb 15;18(4):621-31. doi: 10.1093/hmg/ddn387. Epub 2008 Nov 18.
• [5] Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases.Mol Cell Neurosci. 2005 Oct;30(2):160-72. doi: 10.1016/j.mcn.2005.07.009.