MEB
MCID: MSC077
MIFTS: 57

Muscle Eye Brain Disease (MEB) malady

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

Aliases & Classifications for Muscle Eye Brain Disease

Aliases & Descriptions for Muscle Eye Brain Disease:

Name: Muscle Eye Brain Disease 50 69
Muscle-Eye-Brain Disease 50 24 56 52
Muscle-Eye-Brain Syndrome 56 29
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 50
Santavuori Congenital Muscular Dystrophy 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:



External Ids:

Orphanet 56 ORPHA588
UMLS via Orphanet 70 C0457133

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 c, 1, and has symptoms including seizures, hydrocephalus and muscular hypotonia. 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 Ivermectin and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain 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 68)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 9 32.6 DAG1 GMPPB ISPD
2 muscular dystrophy-dystroglycanopathy , type c, 1 31.3 FKRP FKTN 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, 6 11.5
7 muscular dystrophy-dystroglycanopathy , type a, 7 11.5
8 muscular dystrophy-dystroglycanopathy , type a, 12 11.5
9 muscular dystrophy-dystroglycanopathy , type a, 13 11.5
10 muscular dystrophy-dystroglycanopathy , type a, 10 11.5
11 muscular dystrophy-dystroglycanopathy , type a, 2 11.5
12 muscular dystrophy-dystroglycanopathy , type a, 5 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 muscular dystrophy, congenital, merosin-positive 10.7
21 muscular dystrophy-dystroglycanopathy , type b, 1 10.7
22 intrauterine growth retardation - mandibular malar hypoplasia 10.3 FKRP FKTN
23 asthma-related traits 6 10.2 FKRP SGCA
24 orofacial cleft 13 10.2 GMPPB POMGNT1
25 nephronophthisis 2, infantile 10.2 FKRP FKTN POMT2
26 short-rib thoracic dysplasia 8 with or without polydactyly 10.2 FKRP GMPPB
27 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 FKRP SGCA
28 eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.1 DMD SGCA
29 muscular dystrophy-dystroglycanopathy , type b, 14 10.1 GMPPB ISPD
30 rheumatoid arthritis, systemic juvenile 10.1 GMPPB ISPD
31 pancreatic agenesis 1 10.1 DAG1 DMD SGCA
32 epileptic encephalopathy, early infantile, 4 10.1 GMPPB POMT1 POMT2
33 dementia, frontotemporal 10.1 GMPPB POMT1 POMT2
34 myopathy, distal, with anterior tibial onset 10.1 DMD FKRP SGCA
35 sdhc-related paraganglioma and gastric stromal sarcoma 10.1 DAG1 DMD SGCA
36 deafness, autosomal recessive 18b 10.1 FKRP FKTN POMT1 POMT2
37 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 10.1 FKRP FKTN ISPD POMT1
38 coronary artery disease 10.0 FKRP FKTN LARGE1 POMGNT1 POMT1
39 autosomal recessive limb-girdle muscular dystrophy type 2h 10.0 DMD FKRP POMT1 SGCA
40 prosthetic joint infection 10.0 DMD FKRP POMT2 SGCA
41 charcot-marie-tooth disease, type 2b2 10.0 FKRP LAMA2 POMGNT2
42 walker-warburg syndrome 10.0
43 alk-positive large b-cell lymphoma 9.9 FKRP GMPPB LARGE1 POMT1 POMT2
44 retinitis 9.9
45 cardiomyopathy, familial restrictive, 3 9.9 DAG1 DMD LAMA2
46 lipodystrophy, familial partial, 2 9.9 DAG1 DMD LAMA2
47 immunodeficiency 34, mycobacteriosis, x-linked 9.9 DAG1 DMD SGCA
48 muscular dystrophy 9.8
49 thrombocytopenia, x-linked 9.8 DMD FKRP LAMA2 SGCA
50 autosomal recessive nonsyndromic deafness 47 9.8 DAG1 DMD FKTN 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:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 hydrocephalus 56 32 Very frequent (99-80%) HP:0000238
3 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
4 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
5 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
6 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
7 cataract 56 32 Frequent (79-30%) HP:0000518
8 visual impairment 56 32 Very frequent (99-80%) HP:0000505
9 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
10 hypertonia 56 32 Frequent (79-30%) HP:0001276
11 cognitive impairment 56 32 Very frequent (99-80%) HP:0100543
12 myopathy 56 32 Very frequent (99-80%) HP:0003198
13 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
14 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
15 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
16 strabismus 56 32 Very frequent (99-80%) HP:0000486
17 aplasia/hypoplasia of the cerebellum 56 32 Occasional (29-5%) HP:0007360
18 myopia 56 32 Very frequent (99-80%) HP:0000545
19 glaucoma 56 32 Very frequent (99-80%) HP:0000501
20 meningocele 56 32 Occasional (29-5%) HP:0002435
21 abnormality of the voice 56 32 Frequent (79-30%) HP:0001608
22 holoprosencephaly 56 32 Occasional (29-5%) HP:0001360
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 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 POMGNT1 GCNT2 LAMA2
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 DAG1 DMD FKRP FKTN ISPD
2 behavior/neurological MP:0005386 10.17 B4GAT1 DAG1 DMD FKRP FKTN GCNT2
3 growth/size/body region MP:0005378 10.15 POMT2 DAG1 DMD FKRP FKTN LAMA2
4 homeostasis/metabolism MP:0005376 10.13 GCNT2 LAMA2 LAMB2 LARGE1 MGAT1 POMGNT1
5 mortality/aging MP:0010768 10 POMGNT2 POMT1 POMT2 B4GAT1 DAG1 DMD
6 immune system MP:0005387 9.96 B4GAT1 DMD FKRP FKTN GCNT2 LAMA2
7 muscle MP:0005369 9.65 LAMA2 LARGE1 POMGNT1 POMT1 SGCA B4GAT1
8 nervous system MP:0003631 9.47 B4GAT1 DAG1 DMD FKRP FKTN ISPD

Drugs & Therapeutics for Muscle Eye Brain Disease

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

(show top 50) (show all 188)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivermectin Approved, Vet_approved Phase 4 70288-86-7 6474909 46936176
2
Acetylcholine Approved Phase 4 51-84-3 187
3
Yohimbine Approved, Vet_approved Phase 4 146-48-5 8969
4
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
5
Diethylcarbamazine Approved, Vet_approved Phase 4 90-89-1 3052
6 tannic acid Approved, Nutraceutical Phase 4
7 Peripheral Nervous System Agents Phase 4,Phase 2
8 Central Nervous System Depressants Phase 4,Phase 2
9 Cholinergic Agents Phase 4
10 Mydriatics Phase 4
11 Adrenergic Agents Phase 4
12 Adrenergic Antagonists Phase 4
13 Adrenergic alpha-Antagonists Phase 4
14 Neurotransmitter Agents Phase 4,Phase 3
15 Anesthetics Phase 4
16 Anesthetics, General Phase 4
17 Anesthetics, Inhalation Phase 4
18 Anthelmintics Phase 4
19 abobotulinumtoxinA Phase 4
20 incobotulinumtoxinA Phase 4
21 onabotulinumtoxinA Phase 4
22 Anti-Infective Agents Phase 4
23 Lipoxygenase Inhibitors Phase 4
24 Autonomic Agents Phase 4
25 Botulinum Toxins, Type A Phase 4
26 Antiparasitic Agents Phase 4
27 Yohimbe Nutraceutical Phase 4
28
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
29
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
30
Ropinirole Approved, Investigational Phase 3 91374-20-8, 91374-21-9 5095 497540
31
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
32
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
33
Armodafinil Approved, Investigational Phase 3 112111-43-0
34
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 54575, 6560146 143
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
36 glucocorticoids Phase 3,Phase 2
37 Dopamine agonists Phase 3
38 Folic Acid Antagonists Phase 3,Phase 2
39 N 0437 Phase 3
40 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
41 Dermatologic Agents Phase 3,Phase 2
42 Hormone Antagonists Phase 3,Phase 2
43 Hormones Phase 3,Phase 2
44 Dopamine Agents Phase 3
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
46 Vitamin B Complex Phase 3,Phase 2
47 Immunosuppressive Agents Phase 3,Phase 2
48 Anti-Inflammatory Agents Phase 3,Phase 2
49 Antimetabolites Phase 3,Phase 2
50 Antimetabolites, Antineoplastic Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 103)
id Name Status NCT ID Phase
1 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
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
3 Post-treatment Effects of Ivermectin (IVM) or Diethylcarbamazine (DEC) in Loiasis Completed NCT01593722 Phase 4
4 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
5 Study Evaluating Whether the Bispectral Index Prevents Patients at Higher Risk From Being Awake During Surgery and Anesthesia Completed NCT00682825 Phase 4
6 Safety and Tolerability Trial of Switching From Ropinirole to Rotigotine Completed NCT00593606 Phase 3
7 An Efficacy and Safety Study of Tocilizumab (RoActemra/Actemra) in Participants With Giant Cell Arteritis (GCA) Active, not recruiting NCT01791153 Phase 3
8 Modafinil to Treat Fatigue in Post-Polio Syndrome Terminated NCT00067496 Phase 3
9 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
10 Functional Neuroimaging in Fibromyalgia Patients Receiving tDCS Unknown status NCT01904097 Phase 2
11 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
12 A Comparison of an Implanted Neuroprosthesis With Sensory Training for Improving Airway Protection in Chronic Dysphagia Completed NCT00376506 Phase 2
13 Effects of Rapid-Resisted Exercise and Bright Light Therapy on Ambulatory Adults With Traumatic Brain Injury Completed NCT01175993 Phase 1, Phase 2
14 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
15 Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear Palsy Completed NCT00005903 Phase 2
16 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2
17 Volitional Swallowing in Stroke Patients With Chronic Dysphagia Completed NCT00306501 Phase 2
18 Daclizumab to Treat Wegener's Granulomatosis Completed NCT00040248 Phase 2
19 Steroids and Methotrexate to Treat Systemic Vasculitis Completed NCT00001256 Phase 2
20 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2
21 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2
22 Irinotecan in Treating Children With Refractory Solid Tumors Completed NCT00004078 Phase 2
23 Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment Completed NCT00091182 Phase 2
24 The KHENERGY Study Recruiting NCT02909400 Phase 2
25 Inflammation Inhibition in Prediabetic Humans Active, not recruiting NCT01977417 Phase 2
26 The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic Patients Unknown status NCT00917982 Phase 1
27 Effects of Direct Current Brain Stimulation on Cognition Completed NCT00048698 Phase 1
28 Therapeutic Riding and Neuromuscular Disease Completed NCT01621984 Phase 1
29 Flavopiridol in Treating Children With Relapsed or Refractory Solid Tumors or Lymphomas Completed NCT00012181 Phase 1
30 Oxaliplatin and Irinotecan in Treating Young Patients With Refractory Solid Tumors or Lymphomas Completed NCT00101270 Phase 1
31 Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1
32 Inhibitory rTMS in Dystonic Wilson Patients Unknown status NCT01980433
33 Influence of Oxytocin on the Startle Reflex and on Its Modulation Unknown status NCT01066299
34 Biomarkers of Social Sensitivity in Major Depression Unknown status NCT02214511
35 Eye-Hand Coordination in Children With Spastic Diplegia Completed NCT00024791
36 Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor Study Completed NCT01495897
37 Brain Activation in Vocal and Motor Tics Completed NCT00026000
38 Brain Imaging in the Idiopathic REM Sleep Behavior Disorder (ALICE) Completed NCT03072940
39 Effect of Combined Therapy on Neglect Syndrome in Stroke Patients Completed NCT00784706
40 Brain Dynamics Involved in Generating Tics and Controlling Voluntary Movement Completed NCT00056420
41 Data Collection in Women With Fabry Disease Completed NCT00030134
42 Tactile Learning in Stroke Patients Completed NCT00283881
43 Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity Completed NCT00106912
44 Brain Control of Blinking Completed NCT00030199
45 Thyroid Treatment Trial Completed NCT00348413
46 Brain Use of Sensory Information to Generate Movement Completed NCT00055289
47 Aquatic Therapy Versus Land-Based Therapy for the Treatment of Balance Dysfunction in Parkinson's Disease Completed NCT02701621
48 Transcranial Direct Current Stimulation to Improve Hand Movement in Stroke Patients Completed NCT00307385
49 Motor Performance in Chronic Stroke Patients Completed NCT00110175
50 Physiologic Studies of Spasticity Completed NCT00014976

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
Eye, Brain, Cerebellum, Cortex

Publications for Muscle Eye Brain Disease

Articles related to Muscle Eye Brain Disease:

(show all 44)
id Title Authors Year
1
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. ( 27375352 )
2016
2
Long-term survival in a patient with muscle-eye-brain disease. ( 26152802 )
2015
3
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene. ( 24282183 )
2014
4
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. ( 24731844 )
2014
5
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. ( 24052401 )
2013
6
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. ( 23689641 )
2013
7
Novel retinal findings in an infant with muscle-eye-brain disease. ( 25390965 )
2012
8
RPTPIP/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. ( 22728091 )
2012
9
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. ( 22554691 )
2012
10
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. ( 21361872 )
2011
11
Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. ( 21403000 )
2011
12
Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. ( 20513809 )
2010
13
Muscle-Eye-Brain disease. ( 20215985 )
2010
14
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. ( 20934392 )
2010
15
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. ( 19679478 )
2009
16
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. ( 17881266 )
2008
17
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. ( 17906881 )
2007
18
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
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
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. ( 16427280 )
2006
23
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). ( 16458488 )
2006
24
[Muscle-eye-brain disease. Presentation of one case with genetic study]. ( 15954036 )
2005
25
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. ( 15938569 )
2004
26
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. ( 15313851 )
2004
27
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. ( 15121789 )
2004
28
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. ( 15466003 )
2004
29
Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. ( 12588800 )
2003
30
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. ( 12788071 )
2003
31
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. ( 11883957 )
2002
32
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. ( 12219993 )
2002
33
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. ( 11167293 )
2001
34
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. ( 11320179 )
2001
35
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. ( 10677859 )
2000
36
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. ( 9915951 )
1999
37
Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. ( 10726845 )
1998
38
Muscle-eye-brain disease: a neuropathological study. ( 9029066 )
1997
39
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) ( 7762766 )
1995
40
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. ( 7633187 )
1995
41
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. ( 1792864 )
1991
42
Muscle-eye-brain disease and Walker-Warburg syndrome. ( 2363444 )
1990
43
Muscle-eye-brain disease (MEB) ( 2360704 )
1990
44
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 58)
id Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT1 NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn) single nucleotide variant Pathogenic/Likely pathogenic rs193919335 GRCh37 Chromosome 1, 46656145: 46656145
2 POMGNT1 NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs) deletion Pathogenic/Likely pathogenic rs386834017 GRCh38 Chromosome 1, 46189920: 46189920
3 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic rs28940869 GRCh37 Chromosome 1, 46658069: 46658069
4 POMGNT1 NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193919336 GRCh38 Chromosome 1, 46193873: 46193873
5 POMGNT1 NM_001243766.1(POMGNT1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs193919337 GRCh37 Chromosome 1, 46662690: 46662690
6 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834035 GRCh38 Chromosome 1, 46194843: 46194843
7 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
8 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh37 Chromosome 1, 46658200: 46658200
9 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh37 Chromosome 1, 46658074: 46658074
10 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh37 Chromosome 1, 46658051: 46658051
11 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic/Likely pathogenic rs386834015 GRCh37 Chromosome 1, 46658039: 46658043
12 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
13 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
14 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh37 Chromosome 1, 46656458: 46656458
15 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh37 Chromosome 1, 46655573: 46655573
16 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh37 Chromosome 1, 46655542: 46655542
17 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh37 Chromosome 1, 46655524: 46655524
18 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
19 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh37 Chromosome 1, 46655161: 46655161
20 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Pathogenic/Likely pathogenic rs386834022 GRCh37 Chromosome 1, 46655149: 46655149
21 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh37 Chromosome 1, 46655129: 46655129
22 POMGNT1 NM_017739.3(POMGNT1): c.1895+1_1895+4delGTGA deletion Likely pathogenic rs386834023 GRCh37 Chromosome 1, 46655126: 46655129
23 POMGNT1 NM_017739.3(POMGNT1): c.1896-1G> C single nucleotide variant Likely pathogenic rs386834025 GRCh37 Chromosome 1, 46655030: 46655030
24 POMGNT1 NM_017739.3(POMGNT1): c.1928delT (p.Phe643Serfs) deletion Likely pathogenic rs386834026 GRCh37 Chromosome 1, 46654997: 46654997
25 POMGNT1 NM_017739.3(POMGNT1): c.25dupC (p.Leu9Profs) duplication Likely pathogenic rs386834027 GRCh37 Chromosome 1, 46663469: 46663469
26 POMGNT1 NM_017739.3(POMGNT1): c.351delC (p.Thr118Argfs) deletion Likely pathogenic rs386834028 GRCh37 Chromosome 1, 46662406: 46662406
27 POMGNT1 NM_017739.3(POMGNT1): c.447delT (p.Phe149Leufs) deletion Likely pathogenic rs386834029 GRCh37 Chromosome 1, 46661570: 46661570
28 POMGNT1 NM_017739.3(POMGNT1): c.526A> C (p.Thr176Pro) single nucleotide variant Likely pathogenic rs386834030 GRCh37 Chromosome 1, 46661491: 46661491
29 POMGNT1 NM_017739.3(POMGNT1): c.593delG (p.Ser198Thrfs) deletion Likely pathogenic rs386834031 GRCh37 Chromosome 1, 46660575: 46660575
30 POMGNT1 NM_017739.3(POMGNT1): c.594C> G (p.Ser198Arg) single nucleotide variant Likely pathogenic rs386834032 GRCh37 Chromosome 1, 46660574: 46660574
31 POMGNT1 NM_017739.3(POMGNT1): c.630G> T (p.Trp210Cys) single nucleotide variant Likely pathogenic rs386834033 GRCh37 Chromosome 1, 46660538: 46660538
32 POMGNT1 NM_017739.3(POMGNT1): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834034 GRCh37 Chromosome 1, 46660525: 46660525
33 POMGNT1 NM_017739.3(POMGNT1): c.667G> A (p.Glu223Lys) single nucleotide variant Likely pathogenic rs386834036 GRCh37 Chromosome 1, 46660309: 46660309
34 POMGNT1 NM_017739.3(POMGNT1): c.806G> A (p.Cys269Tyr) single nucleotide variant Likely pathogenic rs386834037 GRCh37 Chromosome 1, 46660019: 46660019
35 POMGNT1 NM_017739.3(POMGNT1): c.879+5G> A single nucleotide variant Likely pathogenic rs386834038 GRCh37 Chromosome 1, 46659941: 46659941
36 POMGNT1 NM_017739.3(POMGNT1): c.879+5G> T single nucleotide variant Likely pathogenic rs386834038 GRCh37 Chromosome 1, 46659941: 46659941
37 POMGNT1 NM_017739.3(POMGNT1): c.931C> T (p.Arg311Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834039 GRCh37 Chromosome 1, 46659546: 46659546
38 POMGNT1 NM_017739.3(POMGNT1): c.982dupG (p.Val328Glyfs) duplication Likely pathogenic rs386834040 GRCh37 Chromosome 1, 46659280: 46659280
39 POMGNT1 NM_017739.3(POMGNT1): c.1011dupT (p.Asp338Terfs) duplication Likely pathogenic rs751254522 GRCh37 Chromosome 1, 46659251: 46659251
40 POMGNT1 NM_017739.3(POMGNT1): c.1786-2A> G single nucleotide variant Likely pathogenic rs1057517340 GRCh38 Chromosome 1, 46189569: 46189569
41 POMGNT1 NM_017739.3(POMGNT1): c.1741_1745delATGGA (p.Met581Glufs) deletion Likely pathogenic rs749332339 GRCh38 Chromosome 1, 46189894: 46189898
42 POMGNT1 NM_017739.3(POMGNT1): c.1695_1698delTTTC (p.Phe566Cysfs) deletion Likely pathogenic rs1057516986 GRCh38 Chromosome 1, 46189941: 46189944
43 POMGNT1 NM_017739.3(POMGNT1): c.1694_1695delCT (p.Ser565Phefs) deletion Likely pathogenic rs1057516903 GRCh38 Chromosome 1, 46189944: 46189945
44 POMGNT1 NM_017739.3(POMGNT1): c.1562delA (p.Lys521Serfs) deletion Likely pathogenic rs1057517422 GRCh38 Chromosome 1, 46190762: 46190762
45 POMGNT1 NM_017739.3(POMGNT1): c.1538_1539+2delACGT deletion Likely pathogenic rs1057516576 GRCh38 Chromosome 1, 46192096: 46192099
46 POMGNT1 NM_017739.3(POMGNT1): c.1284+2_1284+19del18 deletion Likely pathogenic rs1057516409 GRCh38 Chromosome 1, 46192499: 46192516
47 POMGNT1 NM_017739.3(POMGNT1): c.1113delC (p.Tyr372Thrfs) deletion Likely pathogenic rs1057517369 GRCh38 Chromosome 1, 46193213: 46193213
48 POMGNT1 NM_017739.3(POMGNT1): c.1027-2_1027-1delAG deletion Likely pathogenic rs1057516536 GRCh38 Chromosome 1, 46193389: 46193390
49 POMGNT1 NM_017739.3(POMGNT1): c.987delT (p.Pro330Leufs) deletion Likely pathogenic rs1057516955 GRCh38 Chromosome 1, 46193603: 46193603
50 POMGNT1 NM_017739.3(POMGNT1): c.880-2A> G single nucleotide variant Likely pathogenic rs1057516830 GRCh37 Chromosome 1, 46659599: 46659599

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 9.91 B3GALNT2 B4GAT1 FKRP FKTN GCNT2 LARGE1
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)
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 9.78 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 Schwann cell development GO:0014044 9.51 DAG1 LAMB2
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 glycoprotein biosynthetic process GO:0009101 9.46 FKRP LARGE1
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
35 ICD9CM
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
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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