MCID: MSC077
MIFTS: 51

Muscle Eye Brain Disease

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

Aliases & Classifications for Muscle Eye Brain Disease

MalaCards integrated aliases for Muscle Eye Brain Disease:

Name: Muscle Eye Brain Disease 49 28 69
Muscle-Eye-Brain Disease 49 55 51
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 49
Santavuori Congenital Muscular Dystrophy 55
Muscle-Eye-Brain Syndrome 55
Meb Syndrome 55
Meb 49

Characteristics:

Orphanet epidemiological data:

55
muscle-eye-brain disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Muscle Eye Brain Disease

NIH Rare Diseases : 49 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. Last updated: 11/11/2016

MalaCards based summary : Muscle Eye Brain Disease, also known as muscle-eye-brain disease, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and lissencephaly, and has symptoms including hydrocephalus, strabismus and glaucoma. 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 Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 65)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 32.9 FKRP FKTN LARGE1 POMGNT1 POMT1 POMT2
2 lissencephaly 31.8 DAG1 FKRP FKTN
3 muscular dystrophy-dystroglycanopathy , type c, 1 31.6 GMPPB POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type a, 4 30.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
5 muscular dystrophy, congenital, lmna-related 28.8 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
6 muscular dystrophy 25.4 B3GALNT2 DAG1 DMD FKRP FKTN GMPPB
7 walker-warburg syndrome 24.6 B3GALNT2 B4GAT1 DAG1 DMD FKRP FKTN
8 muscular dystrophy-dystroglycanopathy , type a, 9 11.8
9 muscular dystrophy-dystroglycanopathy , type a, 10 11.8
10 muscular dystrophy-dystroglycanopathy , type a, 11 11.8
11 muscular dystrophy-dystroglycanopathy , type a, 12 11.8
12 muscular dystrophy-dystroglycanopathy , type a, 13 11.8
13 muscular dystrophy-dystroglycanopathy , type a, 3 11.8
14 muscular dystrophy-dystroglycanopathy , type a, 2 11.8
15 muscular dystrophy-dystroglycanopathy , type a, 5 11.8
16 muscular dystrophy-dystroglycanopathy , type a, 6 11.8
17 muscular dystrophy-dystroglycanopathy , type a, 7 11.8
18 muscular dystrophy-dystroglycanopathy , type a, 14 11.7
19 muscular dystrophy-dystroglycanopathy , type a, 8 11.7
20 temtamy syndrome 10.8
21 muscular dystrophy, congenital, merosin-positive 10.8
22 muscular dystrophy-dystroglycanopathy , type b, 1 10.8
23 fukuyama type muscular dystrophy 10.5 FKRP FKTN
24 muscular dystrophy-dystroglycanopathy , type c, 9 10.4 DAG1 GMPPB
25 muscular dystrophy-dystroglycanopathy , type c, 4 10.4 FKRP FKTN POMT2
26 muscular dystrophy-dystroglycanopathy , type c, 3 10.4 GMPPB POMGNT1
27 congenital nervous system abnormality 10.3 FKTN POMGNT1 POMT1
28 muscular dystrophy-dystroglycanopathy , type c, 2 10.3 GMPPB POMT1 POMT2
29 muscular dystrophy-dystroglycanopathy , type c, 14 10.3 GMPPB ISPD
30 muscular dystrophy-dystroglycanopathy , type c, 7 10.3 GMPPB ISPD
31 isolated hyperckemia 10.3 DMD FKRP
32 muscular dystrophy, limb-girdle, type 2l 10.2 FKRP FKTN POMT1 POMT2
33 muscular dystrophy, limb-girdle, type 1e 10.2 FKRP GMPPB
34 congenital muscular dystrophy without intellectual disability 10.2 FKRP FKTN ISPD POMT1
35 muscular dystrophy, limb-girdle, type 2d 10.1 FKRP SGCA
36 ablepharon-macrostomia syndrome 10.1 FKRP FKTN LARGE1 POMGNT1 POMT1
37 cardiomyopathy, dilated, 3b 10.0 DMD SGCA
38 congenital muscular dystrophy with intellectual disability 10.0 FKRP GMPPB LARGE1 POMT1 POMT2
39 retinitis 10.0
40 muscular dystrophy, limb-girdle, type 2f 9.9 DMD FKRP SGCA
41 muscular dystrophy, limb-girdle, type 2c 9.9 DAG1 DMD SGCA
42 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 FKRP LAMA2 POMGNT2
43 muscular dystrophy, limb-girdle, type 2b 9.9 DMD FKRP SGCA
44 bethlem myopathy 1 9.9 B3GALNT2 DMD GMPPB ISPD
45 congenital muscular dystrophy with cerebellar involvement 9.8 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
46 muscular dystrophy, limb-girdle, type 2a 9.8 DMD FKRP SGCA
47 mcleod syndrome 9.8 DMD SGCA
48 autosomal recessive limb-girdle muscular dystrophy 9.8 DMD FKRP POMT1 SGCA
49 limb-girdle muscular dystrophy 9.7 DMD FKRP FKTN SGCA
50 cardiac arrest 9.7

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:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000238
2 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
3 glaucoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000501
4 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
5 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
6 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
7 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
8 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
9 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
10 hypertonia 55 31 frequent (33%) Frequent (79-30%) HP:0001276
11 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
12 holoprosencephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001360
13 abnormality of the voice 55 31 frequent (33%) Frequent (79-30%) HP:0001608
14 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
15 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0002353
16 meningocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002435
17 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
18 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
19 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
20 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
21 aplasia/hypoplasia of the cerebellum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007360
22 cognitive impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0100543
23 abnormality of movement 55 Frequent (79-30%)

GenomeRNAi Phenotypes related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.62 GCNT2 LAMA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.62 GCNT2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.62 POMGNT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.62 LAMA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.62 POMGNT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.62 LAMA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.62 GCNT2 POMGNT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.62 LAMA2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.62 GCNT2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.62 GCNT2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.62 POMGNT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.62 GCNT2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.62 POMGNT1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.62 GCNT2 LAMA2 POMGNT1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.62 GCNT2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.62 POMGNT1

MGI Mouse Phenotypes related to Muscle Eye Brain Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 POMGNT1 POMGNT2 POMK POMT2 MGAT1 FKRP
2 behavior/neurological MP:0005386 10.17 POMGNT1 LAMB2 POMK LARGE1 DMD LAMA2
3 growth/size/body region MP:0005378 10.15 MGAT1 POMGNT1 POMGNT2 LAMB2 POMK LARGE1
4 homeostasis/metabolism MP:0005376 10.13 MGAT1 POMGNT1 POMGNT2 LARGE1 SGCA FKRP
5 mortality/aging MP:0010768 10 MGAT1 POMGNT1 POMGNT2 POMT1 LARGE1 POMT2
6 immune system MP:0005387 9.96 SGCA LAMB2 POMT1 LARGE1 DMD LAMA2
7 muscle MP:0005369 9.65 POMGNT1 POMT1 LARGE1 SGCA FKRP B4GAT1
8 nervous system MP:0003631 9.47 POMGNT1 POMGNT2 POMK LARGE1 POMT2 MGAT1

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 28 POMGNT1

Anatomical Context for Muscle Eye Brain Disease

MalaCards organs/tissues related to Muscle Eye Brain Disease:

38
Eye, Brain, Cerebellum, Cortex

Publications for Muscle Eye Brain Disease

Articles related to Muscle Eye Brain Disease:

(show all 47)
# 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
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing. ( 28765568 )
2017
3
Case Report of Cardiac Arrest After Succinylcholine in a Child With Muscle-Eye-Brain Disease. ( 28604469 )
2017
4
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. ( 27375352 )
2016
5
Long-term survival in a patient with muscle-eye-brain disease. ( 26152802 )
2015
6
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. ( 24731844 )
2014
7
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene. ( 24282183 )
2014
8
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. ( 23689641 )
2013
9
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. ( 24052401 )
2013
10
Novel retinal findings in an infant with muscle-eye-brain disease. ( 25390965 )
2012
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
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. ( 21361872 )
2011
14
Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. ( 21403000 )
2011
15
Muscle-Eye-Brain disease. ( 20215985 )
2010
16
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. ( 20934392 )
2010
17
Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. ( 20513809 )
2010
18
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. ( 19679478 )
2009
19
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. ( 17881266 )
2008
20
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. ( 17906881 )
2007
21
Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease. ( 17924568 )
2007
22
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
23
Prenatal diagnosis of muscle-eye-brain disease. ( 17154333 )
2007
24
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
25
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). ( 16458488 )
2006
26
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. ( 16427280 )
2006
27
[Muscle-eye-brain disease. Presentation of one case with genetic study]. ( 15954036 )
2005
28
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. ( 15121789 )
2004
29
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. ( 15466003 )
2004
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
Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. ( 12588800 )
2003
33
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. ( 12788071 )
2003
34
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. ( 12219993 )
2002
35
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. ( 11883957 )
2002
36
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. ( 11320179 )
2001
37
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. ( 11167293 )
2001
38
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. ( 10677859 )
2000
39
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. ( 9915951 )
1999
40
Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. ( 10726845 )
1998
41
Muscle-eye-brain disease: a neuropathological study. ( 9029066 )
1997
42
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) ( 7762766 )
1995
43
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. ( 7633187 )
1995
44
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. ( 1792864 )
1991
45
Muscle-eye-brain disease and Walker-Warburg syndrome. ( 2363444 )
1990
46
Muscle-eye-brain disease (MEB) ( 2360704 )
1990
47
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 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh37 Chromosome 1, 46658200: 46658200
2 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh37 Chromosome 1, 46658074: 46658074
3 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh37 Chromosome 1, 46658051: 46658051
4 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic/Likely pathogenic rs386834015 GRCh37 Chromosome 1, 46658039: 46658043
5 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
6 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
7 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh37 Chromosome 1, 46656458: 46656458
8 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh37 Chromosome 1, 46655573: 46655573
9 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh37 Chromosome 1, 46655542: 46655542
10 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh37 Chromosome 1, 46655524: 46655524
11 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
12 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh37 Chromosome 1, 46655161: 46655161
13 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Pathogenic/Likely pathogenic rs386834022 GRCh37 Chromosome 1, 46655149: 46655149
14 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh37 Chromosome 1, 46655129: 46655129
15 POMGNT1 NM_017739.3(POMGNT1): c.1895+1_1895+4delGTGA deletion Likely pathogenic rs386834023 GRCh37 Chromosome 1, 46655126: 46655129
16 POMGNT1 NM_017739.3(POMGNT1): c.1896-1G> C single nucleotide variant Likely pathogenic rs386834025 GRCh37 Chromosome 1, 46655030: 46655030
17 POMGNT1 NM_017739.3(POMGNT1): c.1928delT (p.Phe643Serfs) deletion Likely pathogenic rs386834026 GRCh37 Chromosome 1, 46654997: 46654997
18 POMGNT1 NM_017739.3(POMGNT1): c.25dupC (p.Leu9Profs) duplication Likely pathogenic rs386834027 GRCh37 Chromosome 1, 46663469: 46663469
19 POMGNT1 NM_017739.3(POMGNT1): c.351delC (p.Thr118Argfs) deletion Likely pathogenic rs386834028 GRCh37 Chromosome 1, 46662406: 46662406
20 POMGNT1 NM_017739.3(POMGNT1): c.447delT (p.Phe149Leufs) deletion Likely pathogenic rs386834029 GRCh37 Chromosome 1, 46661570: 46661570
21 POMGNT1 NM_017739.3(POMGNT1): c.526A> C (p.Thr176Pro) single nucleotide variant Likely pathogenic rs386834030 GRCh37 Chromosome 1, 46661491: 46661491
22 POMGNT1 NM_017739.3(POMGNT1): c.593delG (p.Ser198Thrfs) deletion Likely pathogenic rs386834031 GRCh37 Chromosome 1, 46660575: 46660575
23 POMGNT1 NM_017739.3(POMGNT1): c.594C> G (p.Ser198Arg) single nucleotide variant Likely pathogenic rs386834032 GRCh37 Chromosome 1, 46660574: 46660574
24 POMGNT1 NM_017739.3(POMGNT1): c.630G> T (p.Trp210Cys) single nucleotide variant Likely pathogenic rs386834033 GRCh37 Chromosome 1, 46660538: 46660538
25 POMGNT1 NM_017739.3(POMGNT1): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834034 GRCh37 Chromosome 1, 46660525: 46660525
26 POMGNT1 NM_017739.3(POMGNT1): c.667G> A (p.Glu223Lys) single nucleotide variant Likely pathogenic rs386834036 GRCh37 Chromosome 1, 46660309: 46660309
27 POMGNT1 NM_017739.3(POMGNT1): c.806G> A (p.Cys269Tyr) single nucleotide variant Likely pathogenic rs386834037 GRCh37 Chromosome 1, 46660019: 46660019
28 POMGNT1 NM_017739.3(POMGNT1): c.879+5G> A single nucleotide variant Likely pathogenic rs386834038 GRCh37 Chromosome 1, 46659941: 46659941
29 POMGNT1 NM_017739.3(POMGNT1): c.879+5G> T single nucleotide variant Likely pathogenic rs386834038 GRCh37 Chromosome 1, 46659941: 46659941
30 POMGNT1 NM_017739.3(POMGNT1): c.931C> T (p.Arg311Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834039 GRCh37 Chromosome 1, 46659546: 46659546
31 POMGNT1 NM_017739.3(POMGNT1): c.982dupG (p.Val328Glyfs) duplication Likely pathogenic rs386834040 GRCh37 Chromosome 1, 46659280: 46659280
32 POMGNT1 NM_017739.3(POMGNT1): c.1011dupT (p.Asp338Terfs) duplication Likely pathogenic rs751254522 GRCh37 Chromosome 1, 46659251: 46659251
33 POMGNT1 NM_017739.3(POMGNT1): c.1413+1G> T single nucleotide variant Pathogenic rs587777821 GRCh38 Chromosome 1, 46192307: 46192307
34 POMGNT1 NM_017739.3(POMGNT1): c.1413+1G> A single nucleotide variant Pathogenic rs587777821 GRCh38 Chromosome 1, 46192307: 46192307
35 POMGNT1 NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn) single nucleotide variant Pathogenic/Likely pathogenic rs193919335 GRCh37 Chromosome 1, 46656145: 46656145
36 POMGNT1 NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs) deletion Pathogenic/Likely pathogenic rs386834017 GRCh38 Chromosome 1, 46189920: 46189920
37 POMGNT1 NM_001243766.1(POMGNT1): c.1478C> G (p.Pro493Arg) single nucleotide variant Pathogenic rs28942068 GRCh37 Chromosome 1, 46657831: 46657831
38 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic rs28940869 GRCh37 Chromosome 1, 46658069: 46658069
39 POMGNT1 NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193919336 GRCh38 Chromosome 1, 46193873: 46193873
40 POMGNT1 NM_001243766.1(POMGNT1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs193919337 GRCh37 Chromosome 1, 46662690: 46662690
41 POMGNT1 NM_017739.3(POMGNT1): c.1832delT (p.Leu611Argfs) deletion Pathogenic rs587777822 GRCh38 Chromosome 1, 46189521: 46189521
42 POMGNT1 NM_001243766.1(POMGNT1): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs267606961 GRCh37 Chromosome 1, 46657884: 46657884
43 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834035 GRCh38 Chromosome 1, 46194843: 46194843
44 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
45 POMGNT1 NM_017739.3(POMGNT1): c.1786-2A> G single nucleotide variant Likely pathogenic rs1057517340 GRCh38 Chromosome 1, 46189569: 46189569
46 POMGNT1 NM_017739.3(POMGNT1): c.1741_1745delATGGA (p.Met581Glufs) deletion Likely pathogenic rs749332339 GRCh38 Chromosome 1, 46189894: 46189898
47 POMGNT1 NM_017739.3(POMGNT1): c.1695_1698delTTTC (p.Phe566Cysfs) deletion Likely pathogenic rs1057516986 GRCh38 Chromosome 1, 46189941: 46189944
48 POMGNT1 NM_017739.3(POMGNT1): c.1694_1695delCT (p.Ser565Phefs) deletion Likely pathogenic rs1057516903 GRCh38 Chromosome 1, 46189944: 46189945
49 POMGNT1 NM_017739.3(POMGNT1): c.1562delA (p.Lys521Serfs) deletion Likely pathogenic rs1057517422 GRCh38 Chromosome 1, 46190762: 46190762
50 POMGNT1 NM_017739.3(POMGNT1): c.1538_1539+2delACGT deletion Likely pathogenic rs1057516576 GRCh38 Chromosome 1, 46192096: 46192099

Copy number variations for Muscle Eye Brain Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32201 1 34400000 51300000 Copy number POMGNT1 Muscle-eye-brain disease

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.96 B3GALNT2 B4GAT1 DMD FKRP FKTN GCNT2
2 basement membrane GO:0005604 9.61 DAG1 LAMA2 LAMB2
3 sarcolemma GO:0042383 9.55 DAG1 DMD FKRP LAMA2 SGCA
4 costamere GO:0043034 9.49 DAG1 DMD
5 basal lamina GO:0005605 9.46 LAMA2 LAMB2
6 dystroglycan complex GO:0016011 9.37 DAG1 SGCA
7 Golgi membrane GO:0000139 9.28 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 LARGE1
8 dystrophin-associated glycoprotein complex GO:0016010 9.26 DAG1 DMD FKRP SGCA
9 membrane GO:0016020 10.31 B3GALNT2 B4GAT1 DAG1 DMD FKRP FKTN
10 integral component of membrane GO:0016021 10.2 B3GALNT2 B4GAT1 DAG1 FKRP FKTN GCNT2
11 endoplasmic reticulum GO:0005783 10.02 B3GALNT2 FKRP FKTN POMGNT2 POMK POMT1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.97 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 ISPD
2 extracellular matrix organization GO:0030198 9.76 DAG1 LAMA2 LAMB2 POMT1
3 axon guidance GO:0007411 9.73 B4GAT1 ISPD LAMA2 LAMB2
4 muscle organ development GO:0007517 9.67 DMD FKTN LAMA2 SGCA
5 protein O-linked glycosylation GO:0006493 9.61 B3GALNT2 B4GAT1 DAG1 LARGE1 POMGNT1 POMGNT2
6 skeletal muscle tissue regeneration GO:0043403 9.56 DAG1 DMD LARGE1 SGCA
7 muscle cell cellular homeostasis GO:0046716 9.55 DMD LARGE1
8 mannosylation GO:0097502 9.54 POMT1 POMT2
9 ER-associated misfolded protein catabolic process GO:0071712 9.52 POMT1 POMT2
10 glycoprotein biosynthetic process GO:0009101 9.51 FKRP LARGE1
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.5 DAG1 DMD SGCA
12 Schwann cell development GO:0014044 9.49 DAG1 LAMB2
13 Schwann cell differentiation GO:0014037 9.48 DAG1 LAMA2
14 positive regulation of protein O-linked glycosylation GO:1904100 9.4 POMT1 POMT2
15 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 GO:0016740 9.83 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 GMPPB
2 transferase activity, transferring glycosyl groups GO:0016757 9.81 B3GALNT2 B4GAT1 GCNT2 LARGE1 MGAT1 POMGNT1
3 vinculin binding GO:0017166 9.37 DAG1 DMD
4 dystroglycan binding GO:0002162 9.32 DAG1 DMD
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT1 POMT2
6 acetylglucosaminyltransferase activity GO:0008375 9.1 B3GALNT2 GCNT2 LARGE1 MGAT1 POMGNT1 POMGNT2

Sources for Muscle Eye Brain Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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