MCID: MSC077
MIFTS: 58

Muscle Eye Brain Disease

Categories: Rare diseases, Genetic 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 50 29 69
Muscle-Eye-Brain Disease 50 24 56 52
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 50
Santavuori Congenital Muscular Dystrophy 56
Muscle-Eye-Brain Syndrome 56
Meb Syndrome 56
Meb Disease 24
Meb 50

Characteristics:

Orphanet epidemiological data:

56
muscle-eye-brain disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Muscle Eye Brain Disease

NIH Rare Diseases : 50 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, 9 and muscular dystrophy-dystroglycanopathy , type b, 1, 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. The drugs Yohimbine and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and cellular

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 74)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 9 33.3 DAG1 GMPPB
2 muscular dystrophy-dystroglycanopathy , type b, 1 32.1 POMGNT1 POMT1
3 muscular dystrophy-dystroglycanopathy , type a, 1 11.7
4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 11.6
5 muscular dystrophy-dystroglycanopathy , type a, 3 11.5
6 muscular dystrophy-dystroglycanopathy , type a, 7 11.5
7 muscular dystrophy-dystroglycanopathy , type a, 12 11.5
8 muscular dystrophy-dystroglycanopathy , type a, 13 11.5
9 muscular dystrophy-dystroglycanopathy , type a, 10 11.5
10 muscular dystrophy-dystroglycanopathy , type a, 2 11.5
11 muscular dystrophy-dystroglycanopathy , type a, 5 11.5
12 muscular dystrophy-dystroglycanopathy , type a, 6 11.5
13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 11.5
14 muscular dystrophy-dystroglycanopathy , type a, 14 11.5
15 muscular dystrophy-dystroglycanopathy , type a, 4 11.5
16 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 10 11.0
17 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 12 11.0
18 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 13 11.0
19 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 14 11.0
20 lissencephaly 10.8
21 galactorrhoea-hyperprolactinaemia 10.8 FKRP FKTN
22 muscular dystrophy, congenital, merosin-positive 10.7
23 muscular dystrophy-dystroglycanopathy , type c, 1 10.7
24 temtamy syndrome 10.7
25 hirschsprung disease 5 10.5 FKRP FKTN POMT2
26 muscular dystrophy-dystroglycanopathy , type c, 3 10.5 GMPPB POMGNT1
27 angiodysplasia 10.5 FKTN POMGNT1 POMT1
28 neuropathy, hereditary sensory and autonomic, type viii 10.5 GMPPB POMT1 POMT2
29 alzheimer disease, type 3 10.4 GMPPB POMT1 POMT2
30 muscular dystrophy-dystroglycanopathy , type b, 14 10.4 GMPPB ISPD
31 multiple endocrine neoplasia 10.4 DMD FKRP
32 ectodermal dysplasia-syndactyly syndrome 2 10.4 GMPPB ISPD
33 miyoshi muscular dystrophy 3 10.3 FKRP FKTN POMT1 POMT2
34 obesity due to sim1 deficiency 10.2 FKRP FKTN ISPD POMT1
35 antley-bixler syndrome 10.2 DAG1 FKRP FKTN TMEM5
36 coronary artery disease 10.2 FKRP FKTN LARGE1 POMGNT1 POMT1
37 schizophrenia 16 10.1 FKRP GMPPB
38 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 10.1 FKRP GMPPB LARGE1 POMT1 POMT2
39 acetyl-coa carboxylase deficiency 10.0 FKRP SGCA
40 dsg2-related dilated cardiomyopathy 10.0 DMD SGCA
41 pulmonary hypertension, primary, 2 10.0 DAG1 DMD SGCA
42 walker-warburg syndrome 10.0
43 scn1b-related generalized epilepsy with febrile seizures plus 10.0 DAG1 DMD SGCA
44 charcot-marie-tooth disease, type 2b2 10.0 FKRP LAMA2 POMGNT2
45 retinitis 9.9
46 peeling skin syndrome 2 9.9 DMD FKRP SGCA
47 properdin deficiency 9.9 DMD SGCA
48 intellectual disability-facial dysmorphism-hand anomalies syndrome 9.8 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
49 muscular dystrophy 9.8
50 ullrich congenital muscular dystrophy 1 9.8 B3GALNT2 DMD GMPPB ISPD

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:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 strabismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000486
3 glaucoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000501
4 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
5 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
6 myopia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000545
7 optic atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000648
8 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
9 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
10 hypertonia 56 32 frequent (33%) Frequent (79-30%) HP:0001276
11 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
12 holoprosencephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001360
13 abnormality of the voice 56 32 frequent (33%) Frequent (79-30%) HP:0001608
14 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
15 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
16 meningocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0002435
17 myopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003198
18 elevated serum creatine phosphokinase 56 32 hallmark (90%) Very frequent (99-80%) HP:0003236
19 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
20 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
21 aplasia/hypoplasia of the cerebellum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007360
22 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
23 abnormality of movement 56 Frequent (79-30%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.62 LAMA2 GCNT2
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 B4GAT1 FKTN DAG1 ISPD DMD LAMA2
2 behavior/neurological MP:0005386 10.17 B4GAT1 FKTN GCNT2 DAG1 DMD LAMA2
3 growth/size/body region MP:0005378 10.15 FKTN DAG1 DMD LAMA2 FKRP LARGE1
4 homeostasis/metabolism MP:0005376 10.13 B4GAT1 FKTN GCNT2 DAG1 DMD LAMA2
5 mortality/aging MP:0010768 10 B4GAT1 FKTN DAG1 ISPD DMD LAMA2
6 immune system MP:0005387 9.96 B4GAT1 FKTN GCNT2 DMD LAMA2 FKRP
7 muscle MP:0005369 9.65 B4GAT1 FKTN DAG1 DMD LAMA2 FKRP
8 nervous system MP:0003631 9.47 FKTN DAG1 ISPD DMD LAMA2 FKRP

Drugs & Therapeutics for Muscle Eye Brain Disease

Drugs for Muscle Eye Brain Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Yohimbine Approved, Vet_approved Phase 4 146-48-5 8969
2 Adrenergic Agents Phase 4
3 Adrenergic alpha-Antagonists Phase 4
4 Adrenergic Antagonists Phase 4
5 Autonomic Agents Phase 4
6 Mydriatics Phase 4
7 Neurotransmitter Agents Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Yohimbe Nutraceutical Phase 4
10 Antibodies Phase 2
11 gamma-Globulins Phase 2
12 Immunoglobulins Phase 2
13 Immunoglobulins, Intravenous Phase 2
14 Rho(D) Immune Globulin Phase 2
15
Methotrexate Approved 1959-05-2, 59-05-2 126941
16
Methylprednisolone Approved, Vet_approved 83-43-2 6741
17
Prednisolone Approved, Vet_approved 50-24-8 5755
18
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
19
leucovorin Approved, Nutraceutical 58-05-9 143 6006
20 Antiemetics
21 Anti-Inflammatory Agents
22 Antimetabolites
23 Antimetabolites, Antineoplastic
24 Antineoplastic Agents, Hormonal
25 Antirheumatic Agents
26 Dermatologic Agents
27 Folic Acid Antagonists
28 Gastrointestinal Agents
29 glucocorticoids
30 Hormone Antagonists
31 Hormones
32 Hormones, Hormone Substitutes, and Hormone Antagonists
33 Immunosuppressive Agents
34 Methylprednisolone acetate
35 Methylprednisolone Hemisuccinate
36 Neuroprotective Agents
37 Nucleic Acid Synthesis Inhibitors
38 Prednisolone acetate
39 Prednisolone hemisuccinate
40 Prednisolone phosphate
41 Protective Agents
42 Vitamin B Complex
43 Anticonvulsants
44 Folate Nutraceutical
45 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 41)

id Name Status NCT ID Phase Drugs
1 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
2 The Effect of an α2-Adrenoceptor Antagonist (Yohimbine) on Dynamic Autoregulation in the Human Middle Cerebral Artery and Ophthalmic Artery Completed NCT00814047 Phase 4 Yohimbine hydrochloride
3 A Clinical Trial to Study the Safety and Efficacy of Bone Marrow Derived Autologous Cell for the Treatment of Stroke. Unknown status NCT01832428 Phase 1, Phase 2
4 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
5 A Comparison of an Implanted Neuroprosthesis With Sensory Training for Improving Airway Protection in Chronic Dysphagia Completed NCT00376506 Phase 2
6 Effects of Rapid-Resisted Exercise and Bright Light Therapy on Ambulatory Adults With Traumatic Brain Injury Completed NCT01175993 Phase 1, Phase 2
7 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
8 Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear Palsy Completed NCT00005903 Phase 2 GDNF & Synchro Med Infusion System
9 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
10 Volitional Swallowing in Stroke Patients With Chronic Dysphagia Completed NCT00306501 Phase 2
11 Effects of Direct Current Brain Stimulation on Cognition Completed NCT00048698 Phase 1
12 Therapeutic Riding and Neuromuscular Disease Completed NCT01621984 Phase 1
13 Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders Unknown status NCT02055248
14 Inhibitory rTMS in Dystonic Wilson Patients Unknown status NCT01980433
15 Eye-Hand Coordination in Children With Spastic Diplegia Completed NCT00024791
16 Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor Study Completed NCT01495897
17 Brain Activation in Vocal and Motor Tics Completed NCT00026000
18 Brain Imaging in the Idiopathic REM Sleep Behavior Disorder (ALICE) Completed NCT03072940
19 Effect of Combined Therapy on Neglect Syndrome in Stroke Patients Completed NCT00784706
20 Brain Dynamics Involved in Generating Tics and Controlling Voluntary Movement Completed NCT00056420
21 Data Collection in Women With Fabry Disease Completed NCT00030134
22 Tactile Learning in Stroke Patients Completed NCT00283881
23 Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity Completed NCT00106912
24 Brain Control of Blinking Completed NCT00030199
25 Thyroid Treatment Trial Completed NCT00348413 Intravenous Methylprednisolone + Oral Methotrexate vs Intravenous Methylprednisolone + Placebo
26 Brain Use of Sensory Information to Generate Movement Completed NCT00055289
27 Aquatic Therapy Versus Land-Based Therapy for the Treatment of Balance Dysfunction in Parkinson's Disease Completed NCT02701621
28 Transcranial Direct Current Stimulation to Improve Hand Movement in Stroke Patients Completed NCT00307385
29 Motor Performance in Chronic Stroke Patients Completed NCT00110175
30 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
31 Visual Motor Coordination Recruiting NCT00568243
32 Routine Care Study Evaluating Ocular Torsion Recruiting NCT02894411
33 Predictors of Motor Progression in Parkinson's Disease Recruiting NCT02769039
34 RBD Longitudinal as Prognostic for PD Recruiting NCT00817726
35 Evaluation and Treatment of Patients With Epilepsy Recruiting NCT00013845
36 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
37 Efficacy of New Protocols in the Treatment of Upper Limb Dysfunctions in Patients With Cerebral Palsy Recruiting NCT02039284
38 Natural History Study of Patients With Neurofibromatosis Type 2 Active, not recruiting NCT00598351
39 Brain Networks in Dystonia Enrolling by invitation NCT03042962
40 Test-Retest Reliability of oVEMP's Across Different Electrode Montages Not yet recruiting NCT03251586
41 Efficacy and Tolerability of Ramelteon in Patients With Rapid Eye Movement (REM) Behavior Disorder and Parkinsonism Terminated NCT00745030 Rozerem;Placebo

Search NIH Clinical Center for Muscle Eye Brain Disease

Genetic Tests for Muscle Eye Brain Disease

Genetic tests related to Muscle Eye Brain Disease:

id Genetic test Affiliating Genes
1 Muscle Eye Brain Disease 29
2 Muscle-Eye-Brain Disease 24

Anatomical Context for Muscle Eye Brain Disease

MalaCards organs/tissues related to Muscle Eye Brain Disease:

39
Brain, Eye, Cerebellum, Thyroid, Bone, Testes, Cortex

Publications for Muscle Eye Brain Disease

Articles related to Muscle Eye Brain Disease:

(show all 46)
id Title Authors Year
1
Case Report of Cardiac Arrest After Succinylcholine in a Child With Muscle-Eye-Brain Disease. ( 28604469 )
2017
2
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing. ( 28765568 )
2017
3
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. ( 27375352 )
2016
4
Long-term survival in a patient with muscle-eye-brain disease. ( 26152802 )
2015
5
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. ( 24731844 )
2014
6
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene. ( 24282183 )
2014
7
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. ( 24052401 )
2013
8
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. ( 23689641 )
2013
9
Novel retinal findings in an infant with muscle-eye-brain disease. ( 25390965 )
2012
10
RPTPIP/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. ( 22728091 )
2012
11
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. ( 22554691 )
2012
12
Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. ( 21403000 )
2011
13
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. ( 21361872 )
2011
14
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. ( 20934392 )
2010
15
Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. ( 20513809 )
2010
16
Muscle-Eye-Brain disease. ( 20215985 )
2010
17
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. ( 19679478 )
2009
18
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. ( 17881266 )
2008
19
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
20
Prenatal diagnosis of muscle-eye-brain disease. ( 17154333 )
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
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. ( 17906881 )
2007
23
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
24
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). ( 16458488 )
2006
25
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. ( 16427280 )
2006
26
[Muscle-eye-brain disease. Presentation of one case with genetic study]. ( 15954036 )
2005
27
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. ( 15466003 )
2004
28
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. ( 15938569 )
2004
29
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. ( 15121789 )
2004
30
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. ( 15313851 )
2004
31
Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. ( 12588800 )
2003
32
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. ( 12788071 )
2003
33
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. ( 12219993 )
2002
34
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. ( 11883957 )
2002
35
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. ( 11167293 )
2001
36
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. ( 11320179 )
2001
37
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. ( 10677859 )
2000
38
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. ( 9915951 )
1999
39
Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. ( 10726845 )
1998
40
Muscle-eye-brain disease: a neuropathological study. ( 9029066 )
1997
41
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) ( 7762766 )
1995
42
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. ( 7633187 )
1995
43
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. ( 1792864 )
1991
44
Muscle-eye-brain disease (MEB) ( 2360704 )
1990
45
Muscle-eye-brain disease and Walker-Warburg syndrome. ( 2363444 )
1990
46
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)
id 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> A single nucleotide variant Pathogenic rs587777821 GRCh38 Chromosome 1, 46192307: 46192307
3 POMGNT1 NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn) single nucleotide variant Pathogenic/Likely pathogenic rs193919335 GRCh37 Chromosome 1, 46656145: 46656145
4 POMGNT1 NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs) deletion Pathogenic/Likely pathogenic rs386834017 GRCh38 Chromosome 1, 46189920: 46189920
5 POMGNT1 NM_001243766.1(POMGNT1): c.1478C> G (p.Pro493Arg) single nucleotide variant Pathogenic rs28942068 GRCh37 Chromosome 1, 46657831: 46657831
6 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic rs28940869 GRCh37 Chromosome 1, 46658069: 46658069
7 POMGNT1 NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193919336 GRCh38 Chromosome 1, 46193873: 46193873
8 POMGNT1 NM_001243766.1(POMGNT1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs193919337 GRCh37 Chromosome 1, 46662690: 46662690
9 POMGNT1 NM_017739.3(POMGNT1): c.1832delT (p.Leu611Argfs) deletion Pathogenic rs587777822 GRCh38 Chromosome 1, 46189521: 46189521
10 POMGNT1 NM_001243766.1(POMGNT1): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs267606961 GRCh37 Chromosome 1, 46657884: 46657884
11 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834035 GRCh38 Chromosome 1, 46194843: 46194843
12 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
13 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh37 Chromosome 1, 46658200: 46658200
14 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh37 Chromosome 1, 46658074: 46658074
15 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh37 Chromosome 1, 46658051: 46658051
16 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic/Likely pathogenic rs386834015 GRCh37 Chromosome 1, 46658039: 46658043
17 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
18 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
19 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh37 Chromosome 1, 46656458: 46656458
20 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh37 Chromosome 1, 46655573: 46655573
21 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh37 Chromosome 1, 46655542: 46655542
22 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh37 Chromosome 1, 46655524: 46655524
23 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
24 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh37 Chromosome 1, 46655161: 46655161
25 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Pathogenic/Likely pathogenic rs386834022 GRCh37 Chromosome 1, 46655149: 46655149
26 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh37 Chromosome 1, 46655129: 46655129
27 POMGNT1 NM_017739.3(POMGNT1): c.1895+1_1895+4delGTGA deletion Likely pathogenic rs386834023 GRCh37 Chromosome 1, 46655126: 46655129
28 POMGNT1 NM_017739.3(POMGNT1): c.1896-1G> C single nucleotide variant Likely pathogenic rs386834025 GRCh37 Chromosome 1, 46655030: 46655030
29 POMGNT1 NM_017739.3(POMGNT1): c.1928delT (p.Phe643Serfs) deletion Likely pathogenic rs386834026 GRCh37 Chromosome 1, 46654997: 46654997
30 POMGNT1 NM_017739.3(POMGNT1): c.25dupC (p.Leu9Profs) duplication Likely pathogenic rs386834027 GRCh37 Chromosome 1, 46663469: 46663469
31 POMGNT1 NM_017739.3(POMGNT1): c.351delC (p.Thr118Argfs) deletion Likely pathogenic rs386834028 GRCh37 Chromosome 1, 46662406: 46662406
32 POMGNT1 NM_017739.3(POMGNT1): c.447delT (p.Phe149Leufs) deletion Likely pathogenic rs386834029 GRCh37 Chromosome 1, 46661570: 46661570
33 POMGNT1 NM_017739.3(POMGNT1): c.526A> C (p.Thr176Pro) single nucleotide variant Likely pathogenic rs386834030 GRCh37 Chromosome 1, 46661491: 46661491
34 POMGNT1 NM_017739.3(POMGNT1): c.593delG (p.Ser198Thrfs) deletion Likely pathogenic rs386834031 GRCh37 Chromosome 1, 46660575: 46660575
35 POMGNT1 NM_017739.3(POMGNT1): c.594C> G (p.Ser198Arg) single nucleotide variant Likely pathogenic rs386834032 GRCh37 Chromosome 1, 46660574: 46660574
36 POMGNT1 NM_017739.3(POMGNT1): c.630G> T (p.Trp210Cys) single nucleotide variant Likely pathogenic rs386834033 GRCh37 Chromosome 1, 46660538: 46660538
37 POMGNT1 NM_017739.3(POMGNT1): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834034 GRCh37 Chromosome 1, 46660525: 46660525
38 POMGNT1 NM_017739.3(POMGNT1): c.667G> A (p.Glu223Lys) single nucleotide variant Likely pathogenic rs386834036 GRCh37 Chromosome 1, 46660309: 46660309
39 POMGNT1 NM_017739.3(POMGNT1): c.806G> A (p.Cys269Tyr) single nucleotide variant Likely pathogenic rs386834037 GRCh37 Chromosome 1, 46660019: 46660019
40 POMGNT1 NM_017739.3(POMGNT1): c.879+5G> A single nucleotide variant Likely pathogenic rs386834038 GRCh37 Chromosome 1, 46659941: 46659941
41 POMGNT1 NM_017739.3(POMGNT1): c.879+5G> T single nucleotide variant Likely pathogenic rs386834038 GRCh37 Chromosome 1, 46659941: 46659941
42 POMGNT1 NM_017739.3(POMGNT1): c.931C> T (p.Arg311Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834039 GRCh37 Chromosome 1, 46659546: 46659546
43 POMGNT1 NM_017739.3(POMGNT1): c.982dupG (p.Val328Glyfs) duplication Likely pathogenic rs386834040 GRCh37 Chromosome 1, 46659280: 46659280
44 POMGNT1 NM_017739.3(POMGNT1): c.1011dupT (p.Asp338Terfs) duplication Likely pathogenic rs751254522 GRCh37 Chromosome 1, 46659251: 46659251
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
id 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)
id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.81 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 LARGE1
2 sarcolemma GO:0042383 9.65 DAG1 DMD FKRP LAMA2 SGCA
3 basement membrane GO:0005604 9.61 DAG1 LAMA2 LAMB2
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)
id 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 differentiation GO:0014037 9.49 DAG1 LAMA2
13 Schwann cell development GO:0014044 9.48 DAG1 LAMB2
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:

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.61 B3GALNT2 B4GAT1 GCNT2 LARGE1 MGAT1 POMGNT1
2 vinculin binding GO:0017166 9.37 DAG1 DMD
3 dystroglycan binding GO:0002162 9.32 DAG1 DMD
4 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT1 POMT2
5 acetylglucosaminyltransferase activity GO:0008375 9.1 B3GALNT2 GCNT2 LARGE1 MGAT1 POMGNT1 POMGNT2
6 transferase activity GO:0016740 10 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 GMPPB

Sources for Muscle Eye Brain Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
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55 OMIM via Orphanet
59 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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