MEB
MCID: MSC077
MIFTS: 35

Muscle Eye Brain Disease (MEB) malady

Neuronal category

Summaries for Muscle Eye Brain Disease

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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 fukuyama type 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 brain, and related mouse phenotypes are other and vision/eye.

Aliases & Classifications for Muscle Eye Brain Disease

Sources:
43NIH Rare Diseases, 61UMLS, 20GeneTests, 22GTR, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

muscle eye brain disease 43 61
muscle-eye-brain disease 43 20 22 45
meb 43


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 46)
idRelated DiseaseScoreTop Affiliating Genes
1walker-warburg syndrome30.6ISPD, DMD, LAMB2, LARGE, LAMA2, SGCA
2fukuyama type muscular dystrophy30.4LARGE, LAMA2, FKTN, POMGNT1, POMT1, POMGNT2
3muscular dystrophy-dystroglycanopathy , type a, 1430.2DMD, LARGE, LAMA2, DAG1, FKTN, FKRP
4mental retardation30.1POMGNT1, POMT1, DMD, FKRP, FKTN
5brain disease11.0
6fukuyama congenital muscular dystrophy10.3
7muscular dystrophy-dystroglycanopathy , type a, 110.3
8muscle-eye-brain disease with bilateral multicystic leucodystrophy10.3
9muscular dystrophy-dystroglycanopathy , type a, 310.1
10muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.1
11muscular dystrophy-dystroglycanopathy , type a, 710.1
12muscular dystrophy-dystroglycanopathy , type a, 1210.1
13muscular dystrophy-dystroglycanopathy , type b, 110.1
14muscular dystrophy-dystroglycanopathy , type c, 110.1
15muscular dystrophy-dystroglycanopathy , type a, 1310.1
16mosaic variegated aneuploidy syndrome 210.1
17muscular dystrophy-dystroglycanopathy , type a, 1010.1
18muscular dystrophy-dystroglycanopathy , type a, 210.1
19muscular dystrophy-dystroglycanopathy , type a, 510.1
20muscular dystrophy-dystroglycanopathy , type a, 610.1
21congenital muscular dystrophy10.0LARGE
22microcephaly10.0POMT1
23muscular dystrophy10.0POMT2
24myocarditis10.0DMD
25becker muscular dystrophy10.0DMD
26emery-dreifuss muscular dystrophy10.0LAMA2, DMD
27limb-girdle muscular dystrophy, type 2g10.0FKRP, DMD
28dmd-associated dilated cardiomyopathy10.0DMD, SGCA
29muscular dystrophy-dystroglycanopathy , type c, 510.0LAMA2, POMGNT2, FKRP
30limb-girdle muscular dystrophy10.0FKRP, DMD, SGCA
31limb-girdle muscular dystrophy type 2f10.0DMD, FKRP, SGCA
32limb-girdle muscular dystrophy type 2e10.0SGCA, FKRP
33limb-girdle muscular dystrophy, type 2b10.0DMD, SGCA, FKRP
34calpainopathy10.0DMD, FKRP, SGCA
35intellectual disability10.0POMT1, DMD, FKTN, DAG1, FKRP
36dilated cardiomyopathy10.0SGCA, DMD, FKRP, LAMA2
37hypertrophy of breast10.0DMD, LAMA2, FKRP, POMT1
38noonan syndrome10.0DMD, SGCA, FKRP, LAMA2
39lissencephaly10.0POMGNT1, POMT2, DAG1, FKTN, FKRP, POMT1
40cataract, congenital10.0DMD, GCNT2
41duchenne muscular dystrophy10.0DMD, LAMA2, SGCA, DAG1, FKTN, POMGNT2
42myopathy10.0DMD, POMT1, POMGNT1, FKRP, FKTN, DAG1
43neuropathy10.0LAMB2, DAG1, POMGNT1, DMD, POMT1, FKRP
44muscular dystrophy-dystroglycanopathy9.9
45muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 89.9
46muscular 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

Drugs & Therapeutics for Muscle Eye Brain Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Muscle Eye Brain Disease

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Muscle Eye Brain Disease:

33
Brain

Animal Models for Muscle Eye Brain Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Muscle Eye Brain Disease

Genetic Variations for Muscle Eye Brain Disease

Expression for genes affiliated with Muscle Eye Brain Disease

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

Search GEO for disease gene expression data for Muscle Eye Brain Disease.

Pathways for genes affiliated with Muscle Eye Brain Disease

Sources:
30KEGG, 52QIAGEN, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Muscle Eye Brain Disease

Sources:
29IUPHAR, 24HMDB, 45Novoseek, 11DrugBank
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Compounds related to Muscle Eye Brain Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dolichol phosphate29 2410.9POMT2, POMT1
2alpha-d-mannoside459.5POMGNT1, POMGNT2, MGAT1
3polysaccharide459.0DAG1, POMGNT2, MGAT1, GCNT2
4n-acetylglucosamine458.9GCNT2, MGAT1, POMGNT2
5heparin45 29 11 2411.8LAMB2, LAMA2, DAG1, POMGNT2, DMD
6mannose458.7POMT1, FKTN, POMGNT2, MGAT1, GCNT2, POMGNT1

GO Terms for genes affiliated with Muscle Eye Brain Disease

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet