MEB
MCID: MSC077
MIFTS: 47

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 52 29 6 71
Muscle-Eye-Brain Disease 52 58
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 52
Santavuori Congenital Muscular Dystrophy 58
Muscle-Eye-Brain Syndrome 58
Meb Syndrome 58
Meb 52

Characteristics:

Orphanet epidemiological data:

58
muscle-eye-brain disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C0457133
Orphanet 58 ORPHA588
UMLS 71 C0457133

Summaries for Muscle Eye Brain Disease

NIH Rare Diseases : 52 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, 8 and muscular dystrophy-dystroglycanopathy , type a, 1. 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 seizures and neurological speech impairment

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 127)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 8 33.4 POMGNT2 CRPPA
2 muscular dystrophy-dystroglycanopathy , type a, 1 32.2 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
3 retinitis pigmentosa 76 30.7 TSPAN1 POMGNT1
4 muscular dystrophy-dystroglycanopathy , type c, 1 30.4 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
5 congenital muscular dystrophy due to dystroglycanopathy 30.4 GMPPB FKRP CRPPA
6 muscular dystrophy-dystroglycanopathy , type a, 4 30.2 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
7 periventricular nodular heterotopia 30.2 POMGNT2 POMGNT1 FKRP
8 muscular dystrophy-dystroglycanopathy , type c, 5 28.5 SGCA POMT2 POMT1 POMGNT2 POMGNT1 FKTN
9 muscular dystrophy-dystroglycanopathy , type b, 5 28.3 POMT2 POMT1 POMK POMGNT2 POMGNT1 GMPPB
10 muscular dystrophy, congenital, lmna-related 28.1 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
11 lissencephaly 27.6 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
12 walker-warburg syndrome 27.4 SGCA RXYLT1 POMT2 POMT1 POMK POMGNT2
13 cobblestone lissencephaly 26.8 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
14 muscular dystrophy 26.2 SGCA RXYLT1 POMT2 POMT1 POMK POMGNT2
15 muscular dystrophy-dystroglycanopathy 26.1 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
16 muscular dystrophy-dystroglycanopathy , type a, 9 12.3
17 muscular dystrophy-dystroglycanopathy , type a, 3 12.2
18 muscular dystrophy-dystroglycanopathy , type a, 5 12.2
19 muscular dystrophy-dystroglycanopathy , type a, 2 12.0
20 muscular dystrophy-dystroglycanopathy , type a, 6 12.0
21 muscular dystrophy-dystroglycanopathy , type a, 7 12.0
22 muscular dystrophy-dystroglycanopathy , type a, 10 12.0
23 muscular dystrophy-dystroglycanopathy , type a, 11 12.0
24 muscular dystrophy-dystroglycanopathy , type a, 12 12.0
25 muscular dystrophy-dystroglycanopathy , type a, 13 12.0
26 muscular dystrophy-dystroglycanopathy , type a, 14 12.0
27 congenital muscular dystrophy-dystroglycanopathy type a3 11.8
28 congenital muscular dystrophy-dystroglycanopathy type a13 11.6
29 congenital muscular dystrophy-dystroglycanopathy type a11 11.5
30 congenital muscular dystrophy-dystroglycanopathy type a8 11.5
31 congenital muscular dystrophy-dystroglycanopathy type a9 11.5
32 congenital muscular dystrophy-dystroglycanopathy a14 11.5
33 congenital muscular dystrophy-dystroglycanopathy a7 11.5
34 congenital muscular dystrophy-dystroglycanopathy type a12 11.5
35 congenital muscular dystrophy-dystroglycanopathy type a1 11.5
36 congenital muscular dystrophy-dystroglycanopathy type a10 11.5
37 congenital muscular dystrophy-dystroglycanopathy type a2 11.5
38 congenital muscular dystrophy-dystroglycanopathy type a5 11.5
39 congenital muscular dystrophy-dystroglycanopathy type a6 11.5
40 fukuyama type muscular dystrophy 11.3
41 muscular dystrophy, congenital, merosin-positive 11.0
42 muscular dystrophy-dystroglycanopathy , type b, 1 11.0
43 hypotonia 10.4
44 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 GMPPB DAG1
45 autosomal recessive disease 10.3
46 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 POMT2 GMPPB
47 hydrocephalus 10.2
48 cerebral degeneration 10.2 POMT1 POMGNT1 FKTN
49 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 SGCA FKRP
50 myopia 10.1

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:

58 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 Frequent (79-30%)
2 neurological speech impairment 58 Very frequent (99-80%)
3 eeg abnormality 58 Very frequent (99-80%)
4 gait disturbance 58 Very frequent (99-80%)
5 hydrocephalus 58 Very frequent (99-80%)
6 muscular hypotonia 58 Frequent (79-30%)
7 cataract 58 Frequent (79-30%)
8 visual impairment 58 Very frequent (99-80%)
9 optic atrophy 58 Very frequent (99-80%)
10 hypertonia 58 Frequent (79-30%)
11 cognitive impairment 58 Very frequent (99-80%)
12 myopathy 58 Very frequent (99-80%)
13 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
14 emg abnormality 58 Very frequent (99-80%)
15 abnormality of movement 58 Frequent (79-30%)
16 hemiplegia/hemiparesis 58 Occasional (29-5%)
17 strabismus 58 Very frequent (99-80%)
18 myopia 58 Very frequent (99-80%)
19 aplasia/hypoplasia of the cerebellum 58 Occasional (29-5%)
20 glaucoma 58 Very frequent (99-80%)
21 holoprosencephaly 58 Occasional (29-5%)
22 meningocele 58 Occasional (29-5%)
23 abnormality of the voice 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Muscle Eye Brain Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 B4GAT1 DAG1 FKRP FKTN GCNT2 LAMB2
2 cellular MP:0005384 10.06 B4GAT1 CRPPA DAG1 FKRP FKTN LAMB2
3 growth/size/body region MP:0005378 10.03 B3GALNT2 B4GAT1 DAG1 FKRP FKTN LAMB2
4 mortality/aging MP:0010768 10 B3GALNT2 B4GAT1 CRPPA DAG1 FKRP FKTN
5 muscle MP:0005369 9.56 B4GAT1 DAG1 FKRP FKTN LARGE1 POMGNT1
6 nervous system MP:0003631 9.44 B4GAT1 CRPPA DAG1 FKRP FKTN LAMB2

Drugs & Therapeutics for Muscle Eye Brain Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Global FKRP Patient Registry Recruiting NCT04001595

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:

40
Eye, Brain, Cerebellum, Testes, Cortex, Heart, Skeletal Muscle

Publications for Muscle Eye Brain Disease

Articles related to Muscle Eye Brain Disease:

(show top 50) (show all 194)
# Title Authors PMID Year
1
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 61 6
17634419 2007
2
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 61 6
15121789 2004
3
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 61 6
12369018 2002
4
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. 61 6
11320179 2001
5
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 6
23768512 2013
6
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 6
23453667 2013
7
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
8
Consensus statement on standard of care for congenital muscular dystrophies. 6
21078917 2010
9
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. 6
20236121 2010
10
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. 6
19138766 2009
11
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6
19299310 2009
12
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 6
19067344 2008
13
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 6
18513969 2008
14
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 6
18177472 2008
15
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6
17878207 2007
16
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. 6
17436019 2007
17
POMT2 mutation in a patient with 'MEB-like' phenotype. 6
16701995 2006
18
Fukuyama Congenital Muscular Dystrophy 6
20301385 2006
19
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 6
15894594 2005
20
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. 6
15037715 2004
21
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 6
12666124 2003
22
Congenital Muscular Dystrophy Overview 6
20301468 2001
23
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy. 61
31796684 2020
24
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). 61
31580529 2019
25
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
26
Type IV Collagen Is Essential for Proper Function of Integrin-Mediated Adhesion in Drosophila Muscle Fibers. 61
31623094 2019
27
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. 61
31311558 2019
28
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 61
30961548 2019
29
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. 61
29791932 2018
30
Uniparental disomy unveils a novel recessive mutation in POMT2. 61
29759639 2018
31
Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles. 61
29380551 2018
32
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein. 61
29134705 2018
33
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. 61
29273094 2017
34
Case Report of Cardiac Arrest After Succinylcholine in a Child With Muscle-Eye-Brain Disease. 61
28604469 2017
35
Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I. 61
28666318 2017
36
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing. 61
28765568 2017
37
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. 61
27421908 2016
38
Congenital muscular dystrophy: from muscle to brain. 61
27576556 2016
39
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan. 61
27493216 2016
40
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 61
26908613 2016
41
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. 61
27375352 2016
42
Long-term survival in a patient with muscle-eye-brain disease. 61
26152802 2015
43
Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan. 61
27433255 2015
44
Neurons and glia modify receptor protein-tyrosine phosphatase ζ (RPTPζ)/phosphacan with cell-specific O-mannosyl glycans in the developing brain. 61
25737452 2015
45
Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression. 61
25661440 2015
46
Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein. 61
28198708 2015
47
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. 61
25048216 2014
48
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. 61
24084573 2014
49
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. 61
24731844 2014
50
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 61
24002165 2014

Variations for Muscle Eye Brain Disease

ClinVar genetic disease variations for Muscle Eye Brain Disease:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMGNT1 NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs)short repeat Pathogenic 56581 rs386834015 1:46658039-46658043 1:46192367-46192371
2 POMGNT1 NM_017739.3(POMGNT1):c.1539+1G>ASNV Pathogenic 56582 rs138642840 1:46657769-46657769 1:46192097-46192097
3 POMGNT1 NM_017739.3(POMGNT1):c.1539+1G>TSNV Pathogenic 56583 rs138642840 1:46657769-46657769 1:46192097-46192097
4 POMGNT1 NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter)SNV Pathogenic 56604 rs386834034 1:46660525-46660525 1:46194853-46194853
5 POMGNT1 NM_017739.3(POMGNT1):c.636C>T (p.Phe212=)SNV Pathogenic 265399 rs190057175 1:46660532-46660532 1:46194860-46194860
6 POMGNT1 NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter)SNV Pathogenic 56610 rs386834039 1:46659546-46659546 1:46193874-46193874
7 POMGNT1 NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter)SNV Pathogenic 551169 rs1048865247 1:46661559-46661559 1:46195887-46195887
8 POMGNT1 NM_017739.3(POMGNT1):c.1895+1G>ASNV Pathogenic/Likely pathogenic 56592 rs386834024 1:46655129-46655129 1:46189457-46189457
9 POMGNT1 NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter)SNV Pathogenic/Likely pathogenic 56586 rs386834018 1:46655573-46655573 1:46189901-46189901
10 POMGNT1 NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter)SNV Pathogenic/Likely pathogenic 56587 rs386834019 1:46655542-46655542 1:46189870-46189870
11 POMGNT1 NM_017739.3(POMGNT1):c.1719del (p.His573fs)deletion Pathogenic/Likely pathogenic 3989 rs386834017 1:46655592-46655592 1:46189920-46189920
12 POMGNT1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)SNV Pathogenic/Likely pathogenic 3992 rs28940869 1:46658069-46658069 1:46192397-46192397
13 POMGNT1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)SNV Pathogenic/Likely pathogenic 4000 rs267606960 1:46657840-46657840 1:46192168-46192168
14 POMGNT1 NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser)SNV Likely pathogenic 56577 rs386834011 1:46658200-46658200 1:46192528-46192528
15 POMGNT1 NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter)duplication Likely pathogenic 189099 rs751254522 1:46659250-46659251 1:46193578-46193579
16 POMGNT1 NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn)SNV Likely pathogenic 3988 rs193919335 1:46656145-46656145 1:46190473-46190473
17 POMGNT1 NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro)SNV Likely pathogenic 3998 rs267606962 1:46655211-46655211 1:46189539-46189539
18 POMGNT1 NM_017739.3(POMGNT1):c.652+1G>ASNV Likely pathogenic 3999 rs386834035 1:46660515-46660515 1:46194843-46194843
19 POMGNT1 NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln)SNV Likely pathogenic 3993 rs193919336 1:46659545-46659545 1:46193873-46193873
20 POMGNT1 NM_017739.3(POMGNT1):c.1785+2T>GSNV Likely pathogenic 56588 rs386834020 1:46655524-46655524 1:46189852-46189852
21 POMGNT1 NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His)SNV Likely pathogenic 56589 rs267606962 1:46655211-46655211 1:46189539-46189539
22 POMGNT1 NM_017739.3(POMGNT1):c.1864del (p.Leu622fs)deletion Likely pathogenic 56590 rs386834021 1:46655161-46655161 1:46189489-46189489
23 POMGNT1 NM_017739.3(POMGNT1):c.1876del (p.Val626fs)deletion Likely pathogenic 56591 rs386834022 1:46655149-46655149 1:46189477-46189477
24 POMGNT1 NM_017739.3(POMGNT1):c.1540-2A>GSNV Likely pathogenic 56584 rs386834016 1:46656458-46656458 1:46190786-46190786
25 POMGNT1 NM_017739.3(POMGNT1):c.1895+5_1895+8delshort repeat Likely pathogenic 56594 rs386834023 1:46655122-46655125 1:46189450-46189453
26 POMGNT1 NM_017739.3(POMGNT1):c.1896-1G>CSNV Likely pathogenic 56595 rs386834025 1:46655030-46655030 1:46189358-46189358
27 POMGNT1 NM_017739.3(POMGNT1):c.1928del (p.Phe643fs)deletion Likely pathogenic 56596 rs386834026 1:46654997-46654997 1:46189325-46189325
28 POMGNT1 NM_017739.3(POMGNT1):c.25dup (p.Leu9fs)duplication Likely pathogenic 56597 rs386834027 1:46663468-46663469 1:46197796-46197797
29 POMGNT1 NM_017739.3(POMGNT1):c.351del (p.Thr118fs)deletion Likely pathogenic 56598 rs386834028 1:46662406-46662406 1:46196734-46196734
30 POMGNT1 NM_017739.3(POMGNT1):c.447del (p.Phe149fs)deletion Likely pathogenic 56599 rs386834029 1:46661570-46661570 1:46195898-46195898
31 POMGNT1 NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro)SNV Likely pathogenic 56600 rs386834030 1:46661491-46661491 1:46195819-46195819
32 POMGNT1 NM_017739.3(POMGNT1):c.593del (p.Ser198fs)deletion Likely pathogenic 56601 rs386834031 1:46660575-46660575 1:46194903-46194903
33 POMGNT1 NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg)SNV Likely pathogenic 56602 rs386834032 1:46660574-46660574 1:46194902-46194902
34 POMGNT1 NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys)SNV Likely pathogenic 56603 rs386834033 1:46660538-46660538 1:46194866-46194866
35 POMGNT1 NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg)SNV Likely pathogenic 56579 rs386834013 1:46658074-46658074 1:46192402-46192402
36 POMGNT1 NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg)SNV Likely pathogenic 56580 rs386834014 1:46658051-46658051 1:46192379-46192379
37 POMGNT1 NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys)SNV Likely pathogenic 56606 rs386834036 1:46660309-46660309 1:46194637-46194637
38 POMGNT1 NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr)SNV Likely pathogenic 56607 rs386834037 1:46660019-46660019 1:46194347-46194347
39 POMGNT1 NM_017739.3(POMGNT1):c.879+5G>ASNV Likely pathogenic 56608 rs386834038 1:46659941-46659941 1:46194269-46194269
40 POMGNT1 NM_017739.3(POMGNT1):c.879+5G>TSNV Likely pathogenic 56609 rs386834038 1:46659941-46659941 1:46194269-46194269
41 POMGNT1 NM_017739.3(POMGNT1):c.1905del (p.Lys635fs)deletion Likely pathogenic 556807 rs1553162601 1:46655020-46655020 1:46189348-46189348
42 POMGNT1 NM_017739.3(POMGNT1):c.1605-1G>CSNV Likely pathogenic 554879 rs770219373 1:46656190-46656190 1:46190518-46190518
43 POMGNT1 NM_017739.3(POMGNT1):c.478del (p.Met160fs)deletion Likely pathogenic 371543 rs1057517355 1:46661539-46661539 1:46195867-46195867
44 POMGNT1 NM_017739.3(POMGNT1):c.1786-2A>GSNV Likely pathogenic 371525 rs1057517340 1:46655241-46655241 1:46189569-46189569
45 POMGNT1 NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs)deletion Likely pathogenic 370697 rs749332339 1:46655566-46655570 1:46189894-46189898
46 POMGNT1 NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs)deletion Likely pathogenic 371077 rs1057516986 1:46655613-46655616 1:46189941-46189944
47 POMGNT1 NM_001243766.1(POMGNT1):c.1692_1693CT[1] (p.Ser565fs)short repeat Likely pathogenic 370969 rs1057516903 1:46655616-46655617 1:46189944-46189945
48 POMGNT1 NM_017739.3(POMGNT1):c.1562del (p.Lys521fs)deletion Likely pathogenic 371629 rs1057517422 1:46656434-46656434 1:46190762-46190762
49 POMGNT1 NM_017739.3(POMGNT1):c.1538_1539+2deldeletion Likely pathogenic 370546 rs1057516576 1:46657768-46657771 1:46192096-46192099
50 POMGNT1 NM_017739.3(POMGNT1):c.1284+2_1284+19deldeletion Likely pathogenic 370335 rs1057516409 1:46658171-46658188 1:46192499-46192516

Expression for Muscle Eye Brain Disease

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

Pathways for Muscle Eye Brain Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
2
Show member pathways
13.42 POMT2 POMT1 POMK POMGNT2 POMGNT1 MGAT1
3
Show member pathways
11.87 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
4 10.76 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
5 10.22 GCNT2 B4GAT1

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 membrane GO:0016020 10.22 TSPAN1 SGCA RXYLT1 POMT2 POMT1 POMK
2 endoplasmic reticulum GO:0005783 9.95 POMT2 POMT1 POMK POMGNT2 FKTN FKRP
3 Golgi apparatus GO:0005794 9.91 RXYLT1 POMGNT1 MGAT1 LARGE1 GCNT2 FKTN
4 integral component of membrane GO:0016021 9.86 TSPAN1 SGCA RXYLT1 POMT2 POMT1 POMK
5 sarcolemma GO:0042383 9.61 SGCA FKRP DAG1
6 dystrophin-associated glycoprotein complex GO:0016010 9.46 SGCA DAG1
7 integral component of Golgi membrane GO:0030173 9.46 POMGNT1 LARGE1 FKTN B4GAT1
8 dystroglycan complex GO:0016011 9.37 SGCA DAG1
9 Golgi membrane GO:0000139 9.23 RXYLT1 POMGNT1 MGAT1 LARGE1 GCNT2 FKRP

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

# Name GO ID Score Top Affiliating Genes
1 protein O-linked mannosylation GO:0035269 9.81 RXYLT1 POMT2 POMT1 POMGNT2 LARGE1 FKTN
2 protein O-linked glycosylation GO:0006493 9.61 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
3 mannosylation GO:0097502 9.46 POMT2 POMT1
4 protein glycosylation GO:0006486 9.44 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 MGAT1
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 SGCA DAG1
6 skeletal muscle tissue regeneration GO:0043403 9.43 SGCA LARGE1 DAG1
7 glycoprotein biosynthetic process GO:0009101 9.4 LARGE1 FKRP
8 Schwann cell development GO:0014044 9.37 LAMB2 DAG1
9 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT2 POMT1

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 9.63 POMGNT2 POMGNT1 MGAT1 LARGE1 GCNT2 B3GALNT2
2 transferase activity, transferring glycosyl groups GO:0016757 9.61 POMT2 POMT1 POMGNT2 POMGNT1 MGAT1 LARGE1
3 transferase activity GO:0016740 9.5 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
4 glucuronosyltransferase activity GO:0015020 9.43 LARGE1 B4GAT1
5 manganese ion binding GO:0030145 9.43 POMGNT1 MGAT1 LARGE1
6 mannosyltransferase activity GO:0000030 9.4 POMT2 POMT1
7 dystroglycan binding GO:0002162 9.37 FKRP DAG1
8 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT2 POMT1

Sources for Muscle Eye Brain Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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