MEB
MCID: MSC077
MIFTS: 38

Muscle Eye Brain Disease (MEB) malady

Neuronal diseases category

Summaries for Muscle Eye Brain Disease

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Muscle eye brain disease is a rare form of congenital muscular dystrophy. individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. they also have developmental delay and intellectual disability. people with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. this condition is caused by mutations in gene a called pomgnt1, and it is inherited in an autosomal recessive pattern. the signs and symptoms of this condition vary among affected individuals, even among members of the same family. last updated: 7/21/2009

MalaCards: Muscle Eye Brain Disease, also known as muscle-eye-brain disease, is related to walker-warburg syndrome and congenital muscular dystrophy. An important gene associated with Muscle Eye Brain Disease is POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)), and among its related pathways are Other types of O-glycan biosynthesis and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. The compounds dolichol phosphate and alpha-d-mannoside have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related mouse phenotypes are other and vision/eye.

Aliases & Classifications for Muscle Eye Brain Disease

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42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 60UMLS
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Classifications:

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Anatomical: Neuronal diseases


Aliases & Descriptions:

muscle eye brain disease 42 60
muscle-eye-brain disease 42 20 22 44
meb 42


Related Diseases for Muscle Eye Brain Disease

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17GeneCards, 18GeneDecks
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Diseases related to Muscle Eye Brain Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1walker-warburg syndrome30.5ISPD, DMD, LAMB2, LARGE, LAMA2, SGCA
2congenital muscular dystrophy30.4LARGE
3muscular dystrophy30.4POMT2
4muscular dystrophy-dystroglycanopathy , type a, 1430.1DMD, LARGE, LAMA2, DAG1, FKTN, FKRP
5brain disease10.9
6eye disease10.9
7fukuyama congenital muscular dystrophy10.3
8muscular dystrophy-dystroglycanopathy , type a, 110.3
9muscle-eye-brain disease with bilateral multicystic leucodystrophy10.3
10cerebritis10.1
11meningitis10.1
12retinal disease10.1
13retinitis10.1
14neurologic diseases10.1
15muscular dystrophy-dystroglycanopathy , type a, 310.1
16muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.1
17muscular dystrophy-dystroglycanopathy , type a, 710.1
18muscular dystrophy-dystroglycanopathy , type a, 1210.1
19muscular dystrophy-dystroglycanopathy , type b, 110.1
20muscular dystrophy-dystroglycanopathy , type c, 110.1
21muscular dystrophy-dystroglycanopathy , type a, 1310.1
22mosaic variegated aneuploidy syndrome 210.1
23muscular dystrophy-dystroglycanopathy , type a, 1010.1
24muscular dystrophy-dystroglycanopathy , type a, 210.1
25muscular dystrophy-dystroglycanopathy , type a, 510.1
26muscular dystrophy-dystroglycanopathy , type a, 610.1
27microcephaly10.0POMT1
28myocarditis10.0DMD
29becker muscular dystrophy10.0DMD
30emery-dreifuss muscular dystrophy10.0LAMA2, DMD
31limb-girdle muscular dystrophy, type 2g10.0FKRP, DMD
32dmd-associated dilated cardiomyopathy10.0DMD, SGCA
33muscular dystrophy-dystroglycanopathy , type c, 510.0LAMA2, POMGNT2, FKRP
34limb-girdle muscular dystrophy10.0FKRP, DMD, SGCA
35limb-girdle muscular dystrophy type 2f10.0DMD, FKRP, SGCA
36limb-girdle muscular dystrophy type 2e10.0SGCA, FKRP
37limb-girdle muscular dystrophy, type 2b10.0DMD, SGCA, FKRP
38calpainopathy10.0DMD, FKRP, SGCA
39mental retardation10.0POMGNT1, POMT1, DMD, FKRP, FKTN
40intellectual disability10.0POMT1, DMD, FKTN, DAG1, FKRP
41dilated cardiomyopathy10.0SGCA, DMD, FKRP, LAMA2
42hypertrophy of breast10.0DMD, LAMA2, FKRP, POMT1
43noonan syndrome10.0DMD, SGCA, FKRP, LAMA2
44lissencephaly10.0POMGNT1, POMT2, DAG1, FKTN, FKRP, POMT1
45cataract, congenital10.0DMD, GCNT2
46fukuyama type muscular dystrophy10.0LARGE, LAMA2, FKTN, POMGNT1, POMT1, POMGNT2
47duchenne muscular dystrophy10.0DMD, LAMA2, SGCA, DAG1, FKTN, POMGNT2
48myopathy10.0DMD, POMT1, POMGNT1, FKRP, FKTN, DAG1
49neuropathy10.0LAMB2, DAG1, POMGNT1, DMD, POMT1, FKRP
50muscular dystrophy-dystroglycanopathy , type a, 49.9

Graphical network of the top 20 diseases related to Muscle Eye Brain Disease:



Diseases related to muscle eye brain disease

Clinical Features for Muscle Eye Brain Disease

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Drugs & Therapeutics for Muscle Eye Brain Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Muscle Eye Brain Disease

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20GeneTests, 22GTR
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Genetic tests related to Muscle Eye Brain Disease:

id Genetic test Affiliating Genes
1 Muscle-Eye-Brain Disease20
2 Muscle Eye Brain Disease22

Anatomical Context for Muscle Eye Brain Disease

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32MalaCards
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MalaCards organs/tissues related to Muscle Eye Brain Disease:

32
Eye, Brain

Animal Models for Muscle Eye Brain Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Muscle Eye Brain Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1LAMA2, POMT2, POMGNT1, FKTN, DAG1, ISPD
2MP:00053918.8POMGNT1, DMD, LAMB2, FKRP, DAG1, LARGE
3MP:00053858.6MGAT1, DMD, POMT1, POMGNT1, DAG1, SGCA
4MP:00053698.4SGCA, LARGE, LAMA2, DAG1, FKTN, FKRP
5MP:00053848.0POMGNT1, POMT2, LAMB2, LAMA2, DAG1, FKTN
6MP:00053788.0DAG1, DMD, POMT2, POMGNT1, FKRP, MGAT1
7MP:00036317.8ISPD, DMD, MGAT1, LAMB2, LARGE, DAG1
8MP:00107687.5DMD, FKTN, DAG1, LAMA2, POMT1, LARGE
9MP:00053867.5DMD, GCNT2, FAM3D, POMGNT1, FKTN, DAG1
10MP:00053767.2LAMB2, POMGNT1, FKRP, GCNT2, FKTN, DAG1

Publications for Muscle Eye Brain Disease

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Genetic Variations for Muscle Eye Brain Disease

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Expression for genes affiliated with Muscle Eye Brain Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscle Eye Brain Disease

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Pathways for genes affiliated with Muscle Eye Brain Disease

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Sources:
29KEGG, 51QIAGEN, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Muscle Eye Brain Disease

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28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank
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Compounds related to Muscle Eye Brain Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dolichol phosphate28 2410.9POMT2, POMT1
2alpha-d-mannoside449.5POMGNT1, POMGNT2, MGAT1
3polysaccharide449.0DAG1, POMGNT2, MGAT1, GCNT2
4n-acetylglucosamine448.9GCNT2, MGAT1, POMGNT2
5heparin44 28 11 2411.8LAMB2, LAMA2, DAG1, POMGNT2, DMD
6mannose448.7POMT1, FKTN, POMGNT2, MGAT1, GCNT2, POMGNT1

GO Terms for genes affiliated with Muscle Eye Brain Disease

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16Gene Ontology
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Cellular components related to Muscle Eye Brain Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056049.6DAG1, LAMA2, LAMB2
2membrane raftGO:0451219.5SGCA, DAG1, DMD
3dystrophin-associated glycoprotein complexGO:0160109.4DAG1, DMD, FKRP, SGCA
4sarcolemmaGO:0423839.2LAMA2, SGCA, DAG1, FKRP, DMD
5Golgi membraneGO:0001399.1FKTN, GCNT2, MGAT1, POMGNT1, FKRP
6integral to membraneGO:0160217.1GCNT2, MGAT1, POMGNT2, POMT2, SGCA, DAG1

Biological processes related to Muscle Eye Brain Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle cell cellular homeostasisGO:04671610.0LARGE, DMD
2glycoprotein biosynthetic processGO:0091019.9LARGE, FKRP
3muscle organ developmentGO:0075179.3DMD, FKTN, SGCA, LAMA2
4protein O-linked glycosylationGO:0064939.3POMGNT1, POMT1, POMT2, POMGNT2
5extracellular matrix organizationGO:0301989.3POMT1, DMD, DAG1, LAMB2, LAMA2
6protein glycosylationGO:0064869.2LARGE, GCNT2, MGAT1

Molecular functions related to Muscle Eye Brain Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:0041699.9POMT1, POMT2
2vinculin bindingGO:0171669.9DAG1, DMD
3transferase activityGO:0167409.7FKTN, FKRP
4acetylglucosaminyltransferase activityGO:0083759.5POMGNT2, MGAT1, LARGE
5cytokine activityGO:0051258.7FAM3D, FAM3B, FAM3C

Products for genes affiliated with Muscle Eye Brain Disease

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Sources for Muscle Eye Brain Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet