MEB
MCID: MSC077
MIFTS: 45

Muscle Eye Brain Disease (MEB)

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscle Eye Brain Disease

MalaCards integrated aliases for Muscle Eye Brain Disease:

Name: Muscle Eye Brain Disease 53 29 6 73
Muscle-Eye-Brain Disease 53 59 55 40
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A3 6
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 53
Santavuori Congenital Muscular Dystrophy 59
Muscle-Eye-Brain Syndrome 59
Meb Syndrome 59
Meb 53

Characteristics:

Orphanet epidemiological data:

59
muscle-eye-brain disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA588
UMLS via Orphanet 74 C0457133
UMLS 73 C0457133

Summaries for Muscle Eye Brain Disease

NIH Rare Diseases : 53 Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth (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, a buildup of fluid in the brain (hydrocephalus), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.

MalaCards based summary : Muscle Eye Brain Disease, also known as muscle-eye-brain disease, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and muscular dystrophy-dystroglycanopathy , type a, 4. 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/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are hydrocephalus and seizures

Related Diseases for Muscle Eye Brain Disease

Diseases related to Muscle Eye Brain Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 32.3 B4GAT1 DAG1 FKRP FKTN LARGE1 POMGNT1
2 muscular dystrophy-dystroglycanopathy , type a, 4 32.3 DAG1 FKRP FKTN LARGE1 POMGNT1 POMGNT2
3 muscular dystrophy-dystroglycanopathy , type c, 1 31.5 POMT1 POMT2
4 lissencephaly 31.2 DAG1 FKRP FKTN ISPD RXYLT1
5 muscular dystrophy, congenital, lmna-related 29.5 B3GALNT2 DAG1 FKRP FKTN POMGNT1 POMGNT2
6 walker-warburg syndrome 27.9 B3GALNT2 B4GAT1 DAG1 FKRP FKTN GMPPB
7 muscular dystrophy 27.9 B3GALNT2 B4GAT1 DAG1 FKRP FKTN GMPPB
8 muscular dystrophy-dystroglycanopathy , type a, 9 11.9
9 muscular dystrophy-dystroglycanopathy , type a, 3 11.9
10 muscular dystrophy-dystroglycanopathy , type a, 2 11.9
11 muscular dystrophy-dystroglycanopathy , type a, 5 11.9
12 muscular dystrophy-dystroglycanopathy , type a, 6 11.9
13 muscular dystrophy-dystroglycanopathy , type a, 7 11.9
14 muscular dystrophy-dystroglycanopathy , type a, 10 11.9
15 muscular dystrophy-dystroglycanopathy , type a, 11 11.9
16 muscular dystrophy-dystroglycanopathy , type a, 12 11.9
17 muscular dystrophy-dystroglycanopathy , type a, 13 11.9
18 muscular dystrophy-dystroglycanopathy , type a, 8 11.9
19 muscular dystrophy-dystroglycanopathy , type a, 14 11.9
20 muscular dystrophy, congenital, merosin-positive 10.9
21 muscular dystrophy-dystroglycanopathy , type b, 1 10.9
22 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 10.3 POMGNT1 TSPAN1
23 retinitis pigmentosa 76 10.2 POMGNT1 TSPAN1
24 congenital muscular dystrophy type 1a 10.2
25 cardiomyopathy, dilated, 1b 10.2 DAG1 FKTN
26 muscular dystrophy-dystroglycanopathy , type c, 9 10.2 DAG1 GMPPB
27 autosomal recessive limb-girdle muscular dystrophy type 2w 10.1 GMPPB ISPD
28 muscular dystrophy, congenital, 1b 10.1 DAG1 FKRP FKTN
29 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 FKRP POMGNT2
30 muscular dystrophy-dystroglycanopathy , type c, 14 10.1 GMPPB ISPD
31 congenital nervous system abnormality 10.1 FKTN POMGNT1 POMT1
32 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 POMT1 POMT2
33 muscular dystrophy-dystroglycanopathy , type c, 7 10.1 GMPPB ISPD
34 bethlem myopathy 1 10.1 B3GALNT2 GMPPB ISPD
35 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 FKRP FKTN POMT1 POMT2
36 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 FKRP FKTN POMT1 POMT2
37 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 FKRP SGCA
38 congenital muscular dystrophy without intellectual disability 10.0 FKRP FKTN ISPD POMT1
39 ablepharon-macrostomia syndrome 9.9 FKRP FKTN LARGE1 POMGNT1 POMT1
40 autosomal recessive limb-girdle muscular dystrophy 9.9 FKRP POMT1 SGCA
41 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 FKRP SGCA
42 congenital muscular dystrophy with intellectual disability 9.9 FKRP GMPPB LARGE1 POMT1 POMT2
43 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 FKRP SGCA
44 congenital muscular dystrophy with cerebellar involvement 9.8 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
45 muscle tissue disease 9.8 DAG1 FKRP FKTN SGCA
46 muscular dystrophy, congenital merosin-deficient, 1a 9.8 B3GALNT2 DAG1 FKTN SGCA
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
48 west syndrome 9.8
49 cardiac arrest 9.8
50 sensorineural hearing loss 9.8

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



Diseases related to Muscle Eye Brain Disease

Symptoms & Phenotypes for Muscle Eye Brain Disease

Human phenotypes related to Muscle Eye Brain Disease:

59 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 Very frequent (99-80%)
2 seizures 59 Frequent (79-30%)
3 muscular hypotonia 59 Frequent (79-30%)
4 gait disturbance 59 Very frequent (99-80%)
5 neurological speech impairment 59 Very frequent (99-80%)
6 eeg abnormality 59 Very frequent (99-80%)
7 cataract 59 Frequent (79-30%)
8 visual impairment 59 Very frequent (99-80%)
9 optic atrophy 59 Very frequent (99-80%)
10 hypertonia 59 Frequent (79-30%)
11 cognitive impairment 59 Very frequent (99-80%)
12 myopathy 59 Very frequent (99-80%)
13 elevated serum creatine phosphokinase 59 Very frequent (99-80%)
14 emg abnormality 59 Very frequent (99-80%)
15 abnormality of movement 59 Frequent (79-30%)
16 hemiplegia/hemiparesis 59 Occasional (29-5%)
17 strabismus 59 Very frequent (99-80%)
18 myopia 59 Very frequent (99-80%)
19 aplasia/hypoplasia of the cerebellum 59 Occasional (29-5%)
20 glaucoma 59 Very frequent (99-80%)
21 meningocele 59 Occasional (29-5%)
22 abnormality of the voice 59 Frequent (79-30%)
23 holoprosencephaly 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Muscle Eye Brain Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 B4GAT1 DAG1 FKRP FKTN ISPD LAMB2
2 behavior/neurological MP:0005386 10.1 B4GAT1 DAG1 FKRP FKTN GCNT2 LAMB2
3 growth/size/body region MP:0005378 10.02 DAG1 FKRP FKTN LAMB2 LARGE1 MGAT1
4 homeostasis/metabolism MP:0005376 10 B4GAT1 DAG1 FKRP FKTN GCNT2 LAMB2
5 mortality/aging MP:0010768 9.93 B4GAT1 DAG1 FKRP FKTN ISPD LAMB2
6 muscle MP:0005369 9.56 B4GAT1 DAG1 FKRP FKTN LARGE1 POMGNT1
7 nervous system MP:0003631 9.44 B4GAT1 DAG1 FKRP FKTN ISPD LAMB2

Drugs & Therapeutics for Muscle Eye Brain Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Muscle Eye Brain Disease

Genetic Tests for Muscle Eye Brain Disease

Genetic tests related to Muscle Eye Brain Disease:

# Genetic test Affiliating Genes
1 Muscle Eye Brain Disease 29 POMGNT1

Anatomical Context for Muscle Eye Brain Disease

MalaCards organs/tissues related to Muscle Eye Brain Disease:

41
Eye, Brain, Cerebellum, Cortex

Publications for Muscle Eye Brain Disease

Articles related to Muscle Eye Brain Disease:

(show all 49)
# Title Authors Year
1
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein. ( 29134705 )
2018
2
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. ( 29791932 )
2018
3
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing. ( 28765568 )
2017
4
Case Report of Cardiac Arrest After Succinylcholine in a Child With Muscle-Eye-Brain Disease. ( 28604469 )
2017
5
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. ( 27375352 )
2016
6
Long-term survival in a patient with muscle-eye-brain disease. ( 26152802 )
2015
7
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. ( 24731844 )
2014
8
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene. ( 24282183 )
2014
9
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. ( 23689641 )
2013
10
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. ( 24052401 )
2013
11
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. ( 22554691 )
2012
12
RPTPIP/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. ( 22728091 )
2012
13
Novel retinal findings in an infant with muscle-eye-brain disease. ( 25390965 )
2012
14
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. ( 21361872 )
2011
15
[Clinical and mutation analysis of a Chinese family with muscle eye brain disease]. ( 21983716 )
2011
16
Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. ( 21403000 )
2011
17
Muscle-Eye-Brain disease. ( 20215985 )
2010
18
Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. ( 20513809 )
2010
19
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. ( 20934392 )
2010
20
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. ( 19679478 )
2009
21
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. ( 17881266 )
2008
22
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. ( 17906881 )
2007
23
Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease. ( 17924568 )
2007
24
Prenatal diagnosis of muscle-eye-brain disease. ( 17154333 )
2007
25
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
26
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
27
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. ( 16427280 )
2006
28
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). ( 16458488 )
2006
29
[Muscle-eye-brain disease. Presentation of one case with genetic study]. ( 15954036 )
2005
30
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. ( 15938569 )
2004
31
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. ( 15313851 )
2004
32
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. ( 15121789 )
2004
33
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. ( 15466003 )
2004
34
Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. ( 12588800 )
2003
35
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. ( 12788071 )
2003
36
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. ( 12219993 )
2002
37
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. ( 11883957 )
2002
38
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. ( 11167293 )
2001
39
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. ( 11320179 )
2001
40
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. ( 10677859 )
2000
41
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. ( 9915951 )
1999
42
Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. ( 10726845 )
1998
43
Muscle-eye-brain disease: a neuropathological study. ( 9029066 )
1997
44
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. ( 7633187 )
1995
45
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) ( 7762766 )
1995
46
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. ( 1792864 )
1991
47
Muscle-eye-brain disease and Walker-Warburg syndrome. ( 2363444 )
1990
48
Muscle-eye-brain disease (MEB) ( 2360704 )
1990
49
Muscle-eye-brain disease (MEB) ( 2751061 )
1989

Variations for Muscle Eye Brain Disease

ClinVar genetic disease variations for Muscle Eye Brain Disease:

6 (show top 50) (show all 210)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT1 NM_017739.3(POMGNT1): c.1413+1G> T single nucleotide variant Pathogenic rs587777821 GRCh38 Chromosome 1, 46192307: 46192307
2 POMGNT1 NM_017739.3(POMGNT1): c.1413+1G> T single nucleotide variant Pathogenic rs587777821 GRCh37 Chromosome 1, 46657979: 46657979
3 POMGNT1 NM_017739.3(POMGNT1): c.1413+1G> A single nucleotide variant Pathogenic rs587777821 GRCh38 Chromosome 1, 46192307: 46192307
4 POMGNT1 NM_017739.3(POMGNT1): c.1413+1G> A single nucleotide variant Pathogenic rs587777821 GRCh37 Chromosome 1, 46657979: 46657979
5 POMGNT1 NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn) single nucleotide variant Likely pathogenic rs193919335 GRCh37 Chromosome 1, 46656145: 46656145
6 POMGNT1 NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn) single nucleotide variant Likely pathogenic rs193919335 GRCh38 Chromosome 1, 46190473: 46190473
7 POMGNT1 NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs) deletion Pathogenic/Likely pathogenic rs386834017 GRCh38 Chromosome 1, 46189920: 46189920
8 POMGNT1 NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs) deletion Pathogenic/Likely pathogenic rs386834017 GRCh37 Chromosome 1, 46655592: 46655592
9 POMGNT1 NM_001243766.1(POMGNT1): c.1478C> G (p.Pro493Arg) single nucleotide variant Pathogenic rs28942068 GRCh37 Chromosome 1, 46657831: 46657831
10 POMGNT1 NM_001243766.1(POMGNT1): c.1478C> G (p.Pro493Arg) single nucleotide variant Pathogenic rs28942068 GRCh38 Chromosome 1, 46192159: 46192159
11 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940869 GRCh37 Chromosome 1, 46658069: 46658069
12 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940869 GRCh38 Chromosome 1, 46192397: 46192397
13 POMGNT1 NM_017739.3(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Likely pathogenic rs193919336 GRCh38 Chromosome 1, 46193873: 46193873
14 POMGNT1 NM_017739.3(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Likely pathogenic rs193919336 GRCh37 Chromosome 1, 46659545: 46659545
15 POMGNT1 NM_001243766.1(POMGNT1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs193919337 GRCh37 Chromosome 1, 46662690: 46662690
16 POMGNT1 NM_001243766.1(POMGNT1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs193919337 GRCh38 Chromosome 1, 46197018: 46197018
17 POMGNT1 NM_017739.3(POMGNT1): c.1832delT (p.Leu611Argfs) deletion Pathogenic rs587777822 GRCh38 Chromosome 1, 46189521: 46189521
18 POMGNT1 NM_017739.3(POMGNT1): c.1832delT (p.Leu611Argfs) deletion Pathogenic rs587777822 GRCh37 Chromosome 1, 46655193: 46655193
19 POMGNT1 NM_001243766.1(POMGNT1): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs267606961 GRCh37 Chromosome 1, 46657884: 46657884
20 POMGNT1 NM_001243766.1(POMGNT1): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs267606961 GRCh38 Chromosome 1, 46192212: 46192212
21 POMGNT1 NM_017739.3(POMGNT1): c.1666G> A (p.Asp556Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74374973 GRCh37 Chromosome 1, 46655645: 46655645
22 POMGNT1 NM_017739.3(POMGNT1): c.1666G> A (p.Asp556Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74374973 GRCh38 Chromosome 1, 46189973: 46189973
23 POMGNT1 NM_017739.3(POMGNT1): c.1814G> C (p.Arg605Pro) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
24 POMGNT1 NM_017739.3(POMGNT1): c.1814G> C (p.Arg605Pro) single nucleotide variant Likely pathogenic rs267606962 GRCh38 Chromosome 1, 46189539: 46189539
25 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Likely pathogenic rs386834035 GRCh38 Chromosome 1, 46194843: 46194843
26 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Likely pathogenic rs386834035 GRCh37 Chromosome 1, 46660515: 46660515
27 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
28 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh38 Chromosome 1, 46192168: 46192168
29 POMGNT1 NM_001243766.1(POMGNT1): c.794G> A (p.Arg265His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834010 GRCh37 Chromosome 1, 46660031: 46660031
30 POMGNT1 NM_001243766.1(POMGNT1): c.794G> A (p.Arg265His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834010 GRCh38 Chromosome 1, 46194359: 46194359
31 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh37 Chromosome 1, 46658200: 46658200
32 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh38 Chromosome 1, 46192528: 46192528
33 POMGNT1 NM_017739.3(POMGNT1): c.1285-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs386834012 GRCh37 Chromosome 1, 46658110: 46658110
34 POMGNT1 NM_017739.3(POMGNT1): c.1285-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs386834012 GRCh38 Chromosome 1, 46192438: 46192438
35 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh37 Chromosome 1, 46658074: 46658074
36 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh38 Chromosome 1, 46192402: 46192402
37 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh37 Chromosome 1, 46658051: 46658051
38 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh38 Chromosome 1, 46192379: 46192379
39 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic rs386834015 GRCh37 Chromosome 1, 46658039: 46658043
40 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic rs386834015 GRCh38 Chromosome 1, 46192367: 46192371
41 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
42 POMGNT1 NM_017739.3(POMGNT1): c.447delT (p.Phe149Leufs) deletion Likely pathogenic rs386834029 GRCh37 Chromosome 1, 46661570: 46661570
43 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
44 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
45 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
46 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh37 Chromosome 1, 46656458: 46656458
47 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh38 Chromosome 1, 46190786: 46190786
48 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh37 Chromosome 1, 46655573: 46655573
49 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh38 Chromosome 1, 46189901: 46189901
50 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh37 Chromosome 1, 46655542: 46655542

Expression for Muscle Eye Brain Disease

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

Pathways for Muscle Eye Brain Disease

GO Terms for Muscle Eye Brain Disease

Cellular components related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.98 B3GALNT2 FKRP FKTN POMGNT2 POMK POMT1
2 Golgi apparatus GO:0005794 9.91 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 LARGE1
3 integral component of membrane GO:0016021 9.86 B3GALNT2 B4GAT1 DAG1 FKRP FKTN GCNT2
4 sarcolemma GO:0042383 9.63 DAG1 FKRP SGCA
5 dystrophin-associated glycoprotein complex GO:0016010 9.5 DAG1 FKRP SGCA
6 integral component of Golgi membrane GO:0030173 9.46 B4GAT1 FKTN LARGE1 POMGNT1
7 dystroglycan complex GO:0016011 9.4 DAG1 SGCA
8 Golgi membrane GO:0000139 9.23 B3GALNT2 B4GAT1 FKRP GCNT2 LARGE1 MGAT1
9 membrane GO:0016020 10.27 B3GALNT2 B4GAT1 DAG1 FKRP FKTN GCNT2

Biological processes related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.97 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 ISPD
2 protein O-linked glycosylation GO:0006493 9.61 B3GALNT2 B4GAT1 FKTN LARGE1 POMGNT1 POMGNT2
3 mannosylation GO:0097502 9.46 POMT1 POMT2
4 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 DAG1 SGCA
5 skeletal muscle tissue regeneration GO:0043403 9.43 DAG1 LARGE1 SGCA
6 glycoprotein biosynthetic process GO:0009101 9.4 FKRP LARGE1
7 Schwann cell development GO:0014044 9.37 DAG1 LAMB2
8 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT1 POMT2
9 protein O-linked mannosylation GO:0035269 9.28 B4GAT1 FKRP FKTN ISPD LARGE1 POMGNT2

Molecular functions related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.81 B3GALNT2 B4GAT1 GCNT2 LARGE1 MGAT1 POMGNT1
2 transferase activity GO:0016740 9.5 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 GMPPB
3 acetylglucosaminyltransferase activity GO:0008375 9.43 B3GALNT2 GCNT2 LARGE1 MGAT1 POMGNT1 POMGNT2
4 glucuronosyltransferase activity GO:0015020 9.37 B4GAT1 LARGE1
5 dystroglycan binding GO:0002162 9.32 DAG1 FKRP
6 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT1 POMT2

Sources for Muscle Eye Brain Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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