MEB
MCID: MSC077
MIFTS: 28

Muscle Eye Brain Disease (MEB) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Muscle Eye Brain Disease

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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 based summary: Muscle Eye Brain Disease, also known as muscle-eye-brain disease, is related to brain disease and walker-warburg syndrome. An important gene associated with Muscle Eye Brain Disease is POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). Affiliated tissues include brain, eye and cortex.

Aliases & Classifications for Muscle Eye Brain Disease

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Sources:
42NIH Rare Diseases, 62UMLS, 20GeneTests, 22GTR, 44Novoseek
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Muscle Eye Brain Disease, Aliases & Descriptions:

Name: Muscle Eye Brain Disease 42 62
Muscle-Eye-Brain Disease 42 20 22 44
 
Meb 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Related Diseases for Muscle Eye Brain Disease

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



Diseases related to muscle eye brain disease

Symptoms for Muscle Eye Brain Disease

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Drugs & Therapeutics for Muscle Eye Brain Disease

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Drug clinical trials:

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Search NIH Clinical Center for Muscle Eye Brain Disease

Genetic Tests for Muscle Eye Brain Disease

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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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MalaCards organs/tissues related to Muscle Eye Brain Disease:

32
Brain, Eye, Cortex

Animal Models for Muscle Eye Brain Disease or affiliated genes

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Publications for Muscle Eye Brain Disease

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Articles related to Muscle Eye Brain Disease:

(show all 42)
idTitleAuthorsYear
1
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. (24731844)
2014
2
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene. (24282183)
2014
3
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. (23689641)
2013
4
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. (24052401)
2013
5
Novel retinal findings in an infant with muscle-eye-brain disease. (25390965)
2012
6
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. (22554691)
2012
7
RPTPIP/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. (22728091)
2012
8
Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. (21403000)
2011
9
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. (21361872)
2011
10
Muscle-Eye-Brain disease. (20215985)
2010
11
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. (20934392)
2010
12
Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. (20513809)
2010
13
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. (19679478)
2009
14
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. (17881266)
2008
15
Prenatal diagnosis of muscle-eye-brain disease. (17154333)
2007
16
Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease. (17479518)
2007
17
Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease. (17924568)
2007
18
Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease. (17206611)
2007
19
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. (17906881)
2007
20
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. (16427280)
2006
21
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). (16458488)
2006
22
Muscle-eye-brain disease. Presentation of one case with genetic study]. (15954036)
2005
23
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
24
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. (15466003)
2004
25
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. (15313851)
2004
26
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. (15938569)
2004
27
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. (12788071)
2003
28
Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. (12588800)
2003
29
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. (11883957)
2002
30
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. (12219993)
2002
31
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. (11167293)
2001
32
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
2001
33
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. (10677859)
2000
34
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. (9915951)
1999
35
Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. (10726845)
1998
36
Muscle-eye-brain disease: a neuropathological study. (9029066)
1997
37
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. (7633187)
1995
38
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) (7762766)
1995
39
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. (1792864)
1991
40
Muscle-eye-brain disease (MEB) (2360704)
1990
41
Muscle-eye-brain disease and Walker-Warburg syndrome. (2363444)
1990
42
Muscle-eye-brain disease (MEB) (2751061)
1989

Variations for Muscle Eye Brain Disease

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Clinvar genetic disease variations for Muscle Eye Brain Disease:

6
id Gene Name Type Significance SNP ID Assembly Location
1POMGNT1NM_001243766.1(POMGNT1): c.1539+1G> Tsingle nucleotide variantPathogenicrs138642840GRCh37Chr 1, 46657769: 46657769

Expression for genes affiliated with Muscle Eye Brain Disease

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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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Compounds for genes affiliated with Muscle Eye Brain Disease

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GO Terms for genes affiliated with Muscle Eye Brain Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet