Details of Disease

General Information of Disease (ID: DISZTBC4)

Disease Name Muscular dystrophy-dystroglycanopathy, type A
Synonyms
hydrocephalus, agyria and retinal dysplasia; hard +/- E syndrome; cerebroocular dysplasia muscular dystrophy syndrome; cerebroocular dysgenesis; Warburg syndrome; Pagon syndrome; Chemke syndrome; hydrocephalus-agyria-retinal dysplasia syndrome; hard syndrome; cerebroocular dysplasia-muscular dystrophy syndrome; Walker-Warburg syndrome; Walker-Warburg muscular dystrophy; WWS
Disease Hierarchy
DISFT3J3: Muscular dystrophy-dystroglycanopathy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
Disease Identifiers
MONDO ID
MONDO_0000171
MESH ID
D058494
UMLS CUI
C0265221
MedGen ID
75553
Orphanet ID
899
SNOMED CT ID
111504002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DAG1 TT4X7PG Supportive Autosomal recessive [1]
RXYLT1 TT0UMTJ Supportive Autosomal recessive [2]
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This Disease Is Related to 18 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALG1 OTVXPA9E Limited Genetic Variation [3]
LAMA2 OTFROQWE Limited Biomarker [4]
B3GALNT2 OTOF6O2B Supportive Autosomal recessive [5]
B4GAT1 OT5NH9TD Supportive Autosomal recessive [6]
COL4A1 OTL6D1YE Supportive Autosomal recessive [7]
CRPPA OTC85K8Q Supportive Autosomal recessive [8]
DAG1 OT6QBA05 Supportive Autosomal recessive [1]
FKRP OTMUZ7GH Supportive Autosomal recessive [9]
FKTN OTQ9GCXL Supportive Autosomal recessive [10]
LARGE1 OTUH7H9F Supportive Autosomal recessive [11]
POMGNT1 OTBNOUZC Supportive Autosomal recessive [12]
POMGNT2 OT0S9Z0J Supportive Autosomal recessive [13]
POMK OT36HLDO Supportive Autosomal recessive [14]
POMT1 OTGQSHL5 Supportive Autosomal recessive [15]
POMT2 OTO1ZQZX Supportive Autosomal recessive [15]
RXYLT1 OTQTO7VU Supportive Autosomal recessive [2]
ANO5 OTOW8R6H Strong Genetic Variation [16]
B3GNT2 OTE69HV8 Strong Biomarker [17]
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⏷ Show the Full List of 18 DOT(s)

References

1 Absence of - and -dystroglycan is associated with Walker-Warburg syndrome. Neurology. 2015 May 26;84(21):2177-82. doi: 10.1212/WNL.0000000000001615. Epub 2015 May 1.
2 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.
3 POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.Neurology. 2004 Mar 23;62(6):1009-11. doi: 10.1212/01.wnl.0000115386.28769.65.
4 Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.Eur J Paediatr Neurol. 2003;7(3):129-37. doi: 10.1016/s1090-3798(03)00042-4.
5 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of -dystroglycan. Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.
6 Missense mutations in -1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet. 2013 May 1;22(9):1746-54. doi: 10.1093/hmg/ddt021. Epub 2013 Jan 28.
7 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011 May;7(5):e1002062. doi: 10.1371/journal.pgen.1002062. Epub 2011 May 19.
8 ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.
9 A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x. Epub 2010 Feb 11.
10 Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet. 2008 Feb;73(2):139-45. doi: 10.1111/j.1399-0004.2007.00936.x. Epub 2007 Dec 19.
11 Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2.
12 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18.
13 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.
14 Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science. 2013 Apr 26;340(6131):479-83. doi: 10.1126/science.1233675. Epub 2013 Mar 21.
15 Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. J Biochem. 2010 Mar;147(3):337-44. doi: 10.1093/jb/mvp170. Epub 2009 Oct 29.
16 Muscular dystrophies due to glycosylation defects.Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005.
17 Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT).PLoS Genet. 2016 Aug 10;12(8):e1006235. doi: 10.1371/journal.pgen.1006235. eCollection 2016 Aug.