Details of Disease

General Information of Disease (ID: DISJUOQB)

Disease Name Muscle-eye-brain disease
Synonyms MEB; muscle eye brain disease; muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3; muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; MEB syndrome
Definition
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.
Disease Hierarchy
DISKY7OY: Congenital muscular dystrophy
DISJUOQB: Muscle-eye-brain disease
Disease Identifiers
MONDO ID
MONDO_0018939
MESH ID
D058494
UMLS CUI
C0457133
MedGen ID
105341
Orphanet ID
588
SNOMED CT ID
277950001

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 Strong Genetic Variation [1]
RXYLT1 TT0UMTJ Definitive Autosomal recessive [2]
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This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRPPA OTC85K8Q Limited Biomarker [3]
B3GALNT2 OTOF6O2B Supportive Autosomal recessive [4]
FKRP OTMUZ7GH Supportive Autosomal recessive [5]
FKTN OTQ9GCXL Supportive Autosomal recessive [6]
GMPPB OTJ0CCJ8 Supportive Autosomal recessive [7]
POMT1 OTGQSHL5 Supportive Autosomal recessive [8]
POMT2 OTO1ZQZX Supportive Autosomal recessive [8]
ANO5 OTOW8R6H Strong Genetic Variation [9]
LAMA2 OTFROQWE Strong Biomarker [10]
LARGE1 OTUH7H9F Strong Biomarker [11]
POMGNT1 OTBNOUZC Definitive Autosomal recessive [2]
RXYLT1 OTQTO7VU Definitive Autosomal recessive [2]
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⏷ Show the Full List of 12 DOT(s)

References

1 Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.Neurogenetics. 2013 Nov;14(3-4):205-13. doi: 10.1007/s10048-013-0374-9. Epub 2013 Sep 20.
2 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.
3 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of -dystroglycan.Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.
4 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.
5 Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May;41(5):e61. doi: 10.1136/jmg.2003.013870.
6 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18.
7 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of -dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.
8 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.
9 Muscular dystrophies due to glycosylation defects.Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005.
10 Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.Neuromuscul Disord. 2001 Sep;11(6-7):570-8. doi: 10.1016/s0960-8966(01)00199-7.
11 Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.Eur J Hum Genet. 2011 Apr;19(4):452-7. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19.