MCID: MSC077
MIFTS: 50

Muscle Eye Brain Disease

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



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 lissencephaly. 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 strabismus

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 31.9 FKRP FKTN LARGE1 POMT1 POMT2
2 lissencephaly 31.7 DAG1 FKRP FKTN
3 muscular dystrophy-dystroglycanopathy , type c, 1 31.0 GMPPB POMT1 POMT2
4 muscular dystrophy, congenital, lmna-related 27.9 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
5 muscular dystrophy-dystroglycanopathy , type a, 4 27.5 DAG1 DMD FKRP FKTN LAMA2 LARGE1
6 walker-warburg syndrome 22.5 B3GALNT2 DAG1 DMD FKRP FKTN GMPPB
7 muscular dystrophy 22.2 B3GALNT2 DAG1 DMD FKRP FKTN GMPPB
8 muscular dystrophy-dystroglycanopathy , type a, 9 11.8
9 muscular dystrophy-dystroglycanopathy , type a, 7 11.8
10 muscular dystrophy-dystroglycanopathy , type a, 10 11.8
11 muscular dystrophy-dystroglycanopathy , type a, 11 11.8
12 muscular dystrophy-dystroglycanopathy , type a, 12 11.8
13 muscular dystrophy-dystroglycanopathy , type a, 13 11.8
14 muscular dystrophy-dystroglycanopathy , type a, 3 11.8
15 muscular dystrophy-dystroglycanopathy , type a, 2 11.8
16 muscular dystrophy-dystroglycanopathy , type a, 5 11.8
17 muscular dystrophy-dystroglycanopathy , type a, 6 11.8
18 muscular dystrophy-dystroglycanopathy , type a, 8 11.7
19 muscular dystrophy-dystroglycanopathy , type a, 14 11.7
20 muscular dystrophy-dystroglycanopathy , type b, 1 10.7
21 muscular dystrophy, congenital, merosin-positive 10.7
22 encephalopathy 10.6
23 muscular dystrophy-dystroglycanopathy , type c, 9 10.4 DAG1 GMPPB
24 muscular dystrophy-dystroglycanopathy , type c, 3 10.4 GMPPB POMGNT1
25 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 DMD FKRP
26 congenital muscular dystrophy without intellectual disability 10.3 FKRP FKTN POMT1
27 muscular dystrophy, limb-girdle, type 1e 10.3 FKRP GMPPB
28 muscular dystrophy, limb-girdle, type 2c 10.2 DAG1 DMD
29 congenital nervous system abnormality 10.2 FKTN POMGNT1 POMT1
30 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 FKRP FKTN POMT2
31 muscular dystrophy, limb-girdle, type 2f 10.1 DMD FKRP
32 muscular dystrophy, limb-girdle, type 2b 10.0 DMD FKRP
33 autosomal recessive limb-girdle muscular dystrophy 10.0 DMD FKRP POMT1
34 retinitis 10.0
35 muscular dystrophy-dystroglycanopathy , type c, 2 9.9 GMPPB POMT1 POMT2
36 familial isolated dilated cardiomyopathy 9.8 DMD FKTN
37 muscular dystrophy, limb-girdle, type 2l 9.8 FKRP FKTN POMT1 POMT2
38 cerebritis 9.7
39 meningitis 9.7
40 fukuyama type muscular dystrophy 9.7
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
42 west syndrome 9.7
43 cardiac arrest 9.7
44 sensorineural hearing loss 9.7
45 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 FKRP LAMA2 POMGNT2
46 bethlem myopathy 1 9.7 B3GALNT2 DMD GMPPB
47 creatine phosphokinase, elevated serum 9.6 DMD LAMA2
48 myopathy, x-linked, with excessive autophagy 9.5 DMD LAMA2
49 isolated hyperckemia 9.5 DMD FKRP LAMA2
50 cardiomyopathy, dilated, 1d 9.4 DAG1 DMD LAMA2

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 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
3 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
4 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
5 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
6 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
7 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
8 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
9 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
10 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
11 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
12 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
13 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
14 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
15 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
16 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
17 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
18 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
19 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
20 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
21 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
22 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
23 abnormality of movement 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Muscle Eye Brain Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 POMGNT2 FKTN POMK LAMA2 DAG1 DMD
2 behavior/neurological MP:0005386 10.01 FKRP POMK FKTN LAMA2 DAG1 LARGE1
3 growth/size/body region MP:0005378 9.96 POMGNT2 FKTN POMK LAMA2 DAG1 LARGE1
4 mortality/aging MP:0010768 9.85 FKRP POMGNT2 FKTN POMT1 LAMA2 DAG1
5 craniofacial MP:0005382 9.72 POMGNT1 FKRP POMK LAMA2 LARGE1
6 muscle MP:0005369 9.56 FKTN LAMA2 POMT1 DAG1 LARGE1 DMD
7 nervous system MP:0003631 9.32 POMGNT2 FKTN POMK LAMA2 DAG1 LARGE1

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 128)
# 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 rs28940869 GRCh37 Chromosome 1, 46658069: 46658069
12 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic rs28940869 GRCh38 Chromosome 1, 46192397: 46192397
13 POMGNT1 NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193919336 GRCh38 Chromosome 1, 46193873: 46193873
14 POMGNT1 NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/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.652+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834035 GRCh38 Chromosome 1, 46194843: 46194843
22 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834035 GRCh37 Chromosome 1, 46660515: 46660515
23 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
24 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh38 Chromosome 1, 46192168: 46192168
25 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh37 Chromosome 1, 46658200: 46658200
26 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh38 Chromosome 1, 46192528: 46192528
27 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh37 Chromosome 1, 46658074: 46658074
28 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh38 Chromosome 1, 46192402: 46192402
29 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh37 Chromosome 1, 46658051: 46658051
30 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh38 Chromosome 1, 46192379: 46192379
31 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic rs386834015 GRCh37 Chromosome 1, 46658039: 46658043
32 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic rs386834015 GRCh38 Chromosome 1, 46192367: 46192371
33 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
34 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
35 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
36 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
37 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh37 Chromosome 1, 46656458: 46656458
38 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh38 Chromosome 1, 46190786: 46190786
39 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh37 Chromosome 1, 46655573: 46655573
40 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh38 Chromosome 1, 46189901: 46189901
41 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh37 Chromosome 1, 46655542: 46655542
42 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh38 Chromosome 1, 46189870: 46189870
43 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh37 Chromosome 1, 46655524: 46655524
44 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh38 Chromosome 1, 46189852: 46189852
45 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
46 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh38 Chromosome 1, 46189539: 46189539
47 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh37 Chromosome 1, 46655161: 46655161
48 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh38 Chromosome 1, 46189489: 46189489
49 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Likely pathogenic rs386834022 GRCh37 Chromosome 1, 46655149: 46655149
50 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Likely pathogenic rs386834022 GRCh38 Chromosome 1, 46189477: 46189477

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:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.83 B3GALNT2 POMGNT2 POMK POMT1 POMT2
2 Golgi apparatus GO:0005794 9.8 B3GALNT2 DMD FKRP FKTN LARGE1 POMGNT1
3 endoplasmic reticulum GO:0005783 9.7 B3GALNT2 FKRP FKTN POMGNT2 POMK POMT1
4 Golgi membrane GO:0000139 9.65 B3GALNT2 FKRP FKTN LARGE1 POMGNT1
5 costamere GO:0043034 9.37 DAG1 DMD
6 sarcolemma GO:0042383 9.26 DAG1 DMD FKRP LAMA2
7 dystrophin-associated glycoprotein complex GO:0016010 8.8 DAG1 DMD FKRP
8 membrane GO:0016020 10.2 B3GALNT2 DAG1 DMD FKRP FKTN LARGE1
9 integral component of membrane GO:0016021 10.1 B3GALNT2 DAG1 FKRP FKTN LARGE1 POMGNT1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.76 B3GALNT2 FKRP FKTN LARGE1 POMGNT1 POMGNT2
2 extracellular matrix organization GO:0030198 9.7 DAG1 LAMA2 POMT1
3 muscle organ development GO:0007517 9.63 DMD FKTN LAMA2
4 muscle cell cellular homeostasis GO:0046716 9.51 DMD LARGE1
5 mannosylation GO:0097502 9.49 POMT1 POMT2
6 ER-associated misfolded protein catabolic process GO:0071712 9.48 POMT1 POMT2
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 DAG1 DMD
8 skeletal muscle tissue regeneration GO:0043403 9.43 DAG1 DMD LARGE1
9 protein O-linked mannosylation GO:0035269 9.43 FKRP FKTN LARGE1 POMGNT2 POMT1 POMT2
10 glycoprotein biosynthetic process GO:0009101 9.4 FKRP LARGE1
11 Schwann cell differentiation GO:0014037 9.37 DAG1 LAMA2
12 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT1 POMT2
13 protein O-linked glycosylation GO:0006493 9.23 B3GALNT2 DAG1 LARGE1 POMGNT1 POMGNT2 POMK

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

# Name GO ID Score Top Affiliating Genes
1 acetylglucosaminyltransferase activity GO:0008375 9.46 B3GALNT2 LARGE1 POMGNT1 POMGNT2
2 structural constituent of muscle GO:0008307 9.43 DAG1 DMD
3 transferase activity, transferring glycosyl groups GO:0016757 9.43 B3GALNT2 LARGE1 POMGNT1 POMGNT2 POMT1 POMT2
4 mannosyltransferase activity GO:0000030 9.4 POMT1 POMT2
5 vinculin binding GO:0017166 9.37 DAG1 DMD
6 dystroglycan binding GO:0002162 9.32 DAG1 DMD
7 transferase activity GO:0016740 9.32 B3GALNT2 FKRP FKTN GMPPB LARGE1 POMGNT1
8 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
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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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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