Details of Disease | DrugMAP

General Information of Disease (ID: DISM63SY)

Disease Name	Limb-girdle muscular dystrophy due to POMK deficiency
Synonyms	muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related; MDDGC12; muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; LGMD due to POMK deficiency
Definition	Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
Disease Hierarchy	DIS9PC7U: Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan DISTSKL0: Muscular dystrophy-dystroglycanopathy, type C DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy DISM63SY: Limb-girdle muscular dystrophy due to POMK deficiency
Disease Identifiers	MONDO ID MONDO_0014489 UMLS CUI C4015184 OMIM ID 616094 MedGen ID 863621 Orphanet ID 445110 SNOMED CT ID 1234819007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POMK	OT36HLDO	Supportive	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]
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⏷ Show the Full List of 6 DOT(s)

References

1	POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11.
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.