MCID: MSC077
MIFTS: 47

Muscle Eye Brain Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Muscle diseases categories

Aliases & Classifications for Muscle Eye Brain Disease

About this section
Sources:
41NIH Rare Diseases, 60UMLS, 47Orphanet, 43Novoseek, 20GeneTests, 22GTR, 61UMLS via Orphanet
See all sources

Muscle Eye Brain Disease, Aliases & Descriptions:

Name: Muscle Eye Brain Disease 41 60
Muscle-Eye-Brain Syndrome 41 20 47 22
Muscle-Eye-Brain Disease 41 43 47
 
Santavuori Congenital Muscular Dystrophy 41 47
Meb Syndrome 41 47
Meb 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
muscle-eye-brain syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 588
UMLS via Orphanet61 C0457133

Summaries for Muscle Eye Brain Disease

About this section


NIH Rare Diseases:41 Muscle eye brain disease is a rare form of 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. people with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. this condition is caused by mutations in gene a called pomgnt1, and it is inherited in an autosomal recessive pattern. the signs and symptoms of this condition vary among affected individuals, even among members of the same family. last updated: 7/21/2009

MalaCards based summary: Muscle Eye Brain Disease, also known as muscle-eye-brain syndrome, is related to muscular dystrophy and mental retardation, and has symptoms including hydrocephalus, strabismus and glaucoma. An important gene associated with Muscle Eye Brain Disease is B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2), and among its related pathways is Other types of O-glycan biosynthesis. The compounds Dolichyl phosphate D-mannose and dolichol phosphate have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cerebellum, and related mouse phenotypes are other and craniofacial.

Related Diseases for Muscle Eye Brain Disease

About this section

Diseases related to Muscle Eye Brain Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.9POMT2
2mental retardation29.6POMGNT1, POMT1, FKTN, FKRP
3walker-warburg syndrome29.3FKRP, FKTN, POMT1, POMT2, POMGNT1, LARGE
4muscular dystrophy-dystroglycanopathy , type a, 429.2LARGE, POMGNT1, POMT1, FKTN
5brain disease10.9
6muscle-eye-brain disease with bilateral multicystic leucodystrophy10.4
7dilated cardiomyopathy10.3FKRP
8muscular dystrophy-dystroglycanopathy , type a, 110.3
9retinitis10.3
10muscular dystrophy, congenital10.2LARGE
11muscular dystrophy-dystroglycanopathy , type a, 310.1
12muscular dystrophy-dystroglycanopathy , type a, 710.1
13muscular dystrophy-dystroglycanopathy , type a, 1210.1
14muscular dystrophy-dystroglycanopathy , type b, 110.1
15muscular dystrophy-dystroglycanopathy , type c, 110.1
16muscular dystrophy-dystroglycanopathy , type a, 1310.1
17muscular dystrophy-dystroglycanopathy , type a, 1010.1
18muscular dystrophy-dystroglycanopathy , type a, 210.1
19muscular dystrophy-dystroglycanopathy , type a, 510.1
20muscular dystrophy-dystroglycanopathy , type a, 610.1
21muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.1
22cerebritis10.1
23meningitis10.1
24limb-girdle muscular dystrophy9.9FKRP, FKTN
25intellectual disability multi-gene panels9.8FKRP, FKTN, POMT1
26neuropathy9.6POMGNT1, POMT1, FKTN, FKRP
27myopathy9.6FKRP, FKTN, POMT1, POMGNT1
28lissencephaly9.4FKRP, FKTN, POMT1, POMT2, POMGNT1

Graphical network of the top 20 diseases related to Muscle Eye Brain Disease:



Diseases related to muscle eye brain disease

Symptoms for Muscle Eye Brain Disease

About this section

Symptoms:

 47 (show all 24)
  • glaucoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • mild visual loss/impaired visual acuity
  • myopia
  • strabismus/squint
  • hydrocephaly
  • eeg anomalies
  • abnormal gait
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • autosomal recessive inheritance
  • cataract/lens opacification
  • abnormal cry/voice/phonation disorder/nasal speech
  • movement disorder
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • meningocele
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hemiplegia/diplegia/hemiparesia/limb palsy

HPO human phenotypes related to Muscle Eye Brain Disease:

(show all 21)
id Description Frequency HPO Source Accession
1 hydrocephalus hallmark (90%) HP:0000238
2 strabismus hallmark (90%) HP:0000486
3 glaucoma hallmark (90%) HP:0000501
4 visual impairment hallmark (90%) HP:0000505
5 myopia hallmark (90%) HP:0000545
6 optic atrophy hallmark (90%) HP:0000648
7 gait disturbance hallmark (90%) HP:0001288
8 neurological speech impairment hallmark (90%) HP:0002167
9 eeg abnormality hallmark (90%) HP:0002353
10 myopathy hallmark (90%) HP:0003198
11 emg abnormality hallmark (90%) HP:0003457
12 cognitive impairment hallmark (90%) HP:0100543
13 cataract typical (50%) HP:0000518
14 seizures typical (50%) HP:0001250
15 muscular hypotonia typical (50%) HP:0001252
16 hypertonia typical (50%) HP:0001276
17 abnormality of the voice typical (50%) HP:0001608
18 holoprosencephaly occasional (7.5%) HP:0001360
19 meningocele occasional (7.5%) HP:0002435
20 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
21 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360

Drugs & Therapeutics for Muscle Eye Brain Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Muscle Eye Brain Disease

Search NIH Clinical Center for Muscle Eye Brain Disease

Genetic Tests for Muscle Eye Brain Disease

About this section

Genetic tests related to Muscle Eye Brain Disease:

id Genetic test Affiliating Genes
1 Muscle-Eye-Brain Disease20
2 Muscle Eye Brain Disease22

Anatomical Context for Muscle Eye Brain Disease

About this section

MalaCards organs/tissues related to Muscle Eye Brain Disease:

31
Eye, Brain, Cerebellum, Cortex

Animal Models for Muscle Eye Brain Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Muscle Eye Brain Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.9POMGNT1, POMT2, FKTN
2MP:00053828.6FKRP, POMGNT1, LARGE
3MP:00053697.8FKRP, FKTN, POMT1, POMGNT1, LARGE
4MP:00036317.5LARGE, POMGNT1, POMT2, FKTN, FKRP
5MP:00053787.3LARGE, POMGNT1, POMT2, FKTN, FKRP
6MP:00107687.1LARGE, POMGNT1, POMT2, POMT1, FKTN, FKRP

Publications for Muscle Eye Brain Disease

About this section

Articles related to Muscle Eye Brain Disease:

(show all 42)
idTitleAuthorsYear
1
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. (24731844)
2014
2
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene. (24282183)
2014
3
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. (23689641)
2013
4
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. (24052401)
2013
5
Novel retinal findings in an infant with muscle-eye-brain disease. (25390965)
2012
6
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. (22554691)
2012
7
RPTPIP/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. (22728091)
2012
8
Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. (21403000)
2011
9
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. (21361872)
2011
10
Muscle-Eye-Brain disease. (20215985)
2010
11
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. (20934392)
2010
12
Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. (20513809)
2010
13
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. (19679478)
2009
14
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. (17881266)
2008
15
Prenatal diagnosis of muscle-eye-brain disease. (17154333)
2007
16
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
17
Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease. (17924568)
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. (17206611)
2007
19
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. (17906881)
2007
20
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. (16427280)
2006
21
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). (16458488)
2006
22
Muscle-eye-brain disease. Presentation of one case with genetic study]. (15954036)
2005
23
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
24
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. (15466003)
2004
25
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. (15313851)
2004
26
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. (15938569)
2004
27
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. (12788071)
2003
28
Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. (12588800)
2003
29
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. (11883957)
2002
30
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. (12219993)
2002
31
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. (11167293)
2001
32
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
2001
33
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. (10677859)
2000
34
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. (9915951)
1999
35
Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. (10726845)
1998
36
Muscle-eye-brain disease: a neuropathological study. (9029066)
1997
37
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. (7633187)
1995
38
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) (7762766)
1995
39
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. (1792864)
1991
40
Muscle-eye-brain disease (MEB) (2360704)
1990
41
Muscle-eye-brain disease and Walker-Warburg syndrome. (2363444)
1990
42
Muscle-eye-brain disease (MEB) (2751061)
1989

Variations for Muscle Eye Brain Disease

About this section

Clinvar genetic disease variations for Muscle Eye Brain Disease:

6 (show all 70)
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh38Chr 19, 46755451: 46755451
2POMT2NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter)single nucleotide variantPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
3POMT2POMT2, IVS8DS, G-A, +1single nucleotide variantPathogenic
4POMT2POMT2, 1-BP DEL, 1261CdeletionPathogenic
5POMT2NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys)single nucleotide variantPathogenicrs200198778GRCh37Chr 14, 77745107: 77745107
6POMT2NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu)single nucleotide variantPathogenicrs267606969GRCh37Chr 14, 77743795: 77743795
7POMT2NM_013382.5(POMT2): c.1238G> C (p.Arg413Pro)single nucleotide variantPathogenicrs190285831GRCh37Chr 14, 77755120: 77755120
8POMT2NM_013382.5(POMT2): c.1117G> T (p.Val373Phe)single nucleotide variantPathogenicrs267606965GRCh37Chr 14, 77757723: 77757723
9POMT2NM_013382.5(POMT2): c.593T> A (p.Ile198Asn)single nucleotide variantPathogenicrs267606972GRCh37Chr 14, 77769241: 77769241
10POMT2NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser)single nucleotide variantPathogenicrs267606970GRCh37Chr 14, 77762566: 77762566
11POMT2POMT2, IVS12AS, G-A, -14single nucleotide variantPathogenic
12POMT2NM_013382.5(POMT2): c.1445G> T (p.Gly482Val)single nucleotide variantPathogenicrs267606968GRCh37Chr 14, 77751863: 77751863
13POMT1NM_007171.3(POMT1): c.226G> A (p.Gly76Arg)single nucleotide variantPathogenicrs28941782GRCh37Chr 9, 134381604: 134381604
14POMT1NM_007171.3(POMT1): c.907C> T (p.Gln303Ter)single nucleotide variantPathogenicrs119462981GRCh37Chr 9, 134385788: 134385788
15POMT1POMT1, 1-BP INS, 2110GinsertionPathogenic
16POMT1POMT1, 3-BP DEL, 1260CCTdeletionPathogenic
17POMT1POMT1, 2-BP DEL, 2179TCdeletionPathogenic
18POMT1POMT1, 1-BP INS, 2111GinsertionPathogenic
19POMT1POMT1, 3-BP DEL, 418ATGdeletionPathogenic
20POMT1POMT1, 1-BP DUP, 2167GduplicationPathogenic
21POMGNT1NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln)single nucleotide variantLikely pathogenic, Pathogenicrs193919336GRCh38Chr 1, 46193873: 46193873
22B3GALNT2NM_152490.4(B3GALNT2): c.740G> A (p.Gly247Glu)single nucleotide variantPathogenicrs367543072GRCh37Chr 1, 235634186: 235634186
23B3GALNT2NM_152490.4(B3GALNT2): c.875G> C (p.Arg292Pro)single nucleotide variantPathogenicrs367543076GRCh37Chr 1, 235622061: 235622061
24B3GALNT2NM_152490.4(B3GALNT2): c.308_309delTG (p.Val103Glyfs)deletionPathogenicrs367543070GRCh37Chr 1, 235652525: 235652526
25B3GALNT2NM_152490.4(B3GALNT2): c.755T> G (p.Val252Gly)single nucleotide variantPathogenicrs367543073GRCh37Chr 1, 235634171: 235634171
26B3GALNT2NM_152490.4(B3GALNT2): c.802G> A (p.Val268Met)single nucleotide variantPathogenicrs367543074GRCh37Chr 1, 235628992: 235628992
27B3GALNT2NM_152490.4(B3GALNT2): c.1423C> T (p.Gln475Ter)single nucleotide variantPathogenicrs367543077GRCh37Chr 1, 235613601: 235613601
28FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
29FKRPNM_024301.4(FKRP): c.953G> A (p.Cys318Tyr)single nucleotide variantPathogenicrs104894684GRCh37Chr 19, 47259660: 47259660
30POMGNT1NM_001243766.1(POMGNT1): c.794G> A (p.Arg265His)single nucleotide variantLikely pathogenicrs386834010GRCh37Chr 1, 46660031: 46660031
31POMGNT1NM_001243766.1(POMGNT1): c.1274G> C (p.Trp425Ser)single nucleotide variantLikely pathogenicrs386834011GRCh37Chr 1, 46658200: 46658200
32POMGNT1NM_001243766.1(POMGNT1): c.1285-2A> Gsingle nucleotide variantLikely pathogenicrs386834012GRCh37Chr 1, 46658110: 46658110
33POMGNT1NM_001243766.1(POMGNT1): c.1319T> G (p.Leu440Arg)single nucleotide variantLikely pathogenicrs386834013GRCh37Chr 1, 46658074: 46658074
34POMGNT1NM_001243766.1(POMGNT1): c.1342G> C (p.Gly448Arg)single nucleotide variantLikely pathogenicrs386834014GRCh37Chr 1, 46658051: 46658051
35POMGNT1NM_001243766.1(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs)deletionLikely pathogenicrs386834015GRCh37Chr 1, 46658039: 46658043
36POMGNT1NM_001243766.1(POMGNT1): c.1539+1G> Asingle nucleotide variantLikely pathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
37POMGNT1NM_001243766.1(POMGNT1): c.1539+1G> Tsingle nucleotide variantPathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
38POMGNT1NM_001243766.1(POMGNT1): c.1540-2A> Gsingle nucleotide variantLikely pathogenicrs386834016GRCh37Chr 1, 46656458: 46656458
39POMGNT1NM_001243766.1(POMGNT1): c.1719delC (p.His573Glnfs)deletionLikely pathogenicrs386834017GRCh37Chr 1, 46655592: 46655592
40POMGNT1NM_001243766.1(POMGNT1): c.1738C> T (p.Arg580Ter)single nucleotide variantLikely pathogenicrs386834018GRCh37Chr 1, 46655573: 46655573
41POMGNT1NM_001243766.1(POMGNT1): c.1769G> A (p.Trp590Ter)single nucleotide variantLikely pathogenicrs386834019GRCh37Chr 1, 46655542: 46655542
42POMGNT1NM_001243766.1(POMGNT1): c.1785+2T> Gsingle nucleotide variantLikely pathogenicrs386834020GRCh37Chr 1, 46655524: 46655524
43POMGNT1NM_001243766.1(POMGNT1): c.1814G> A (p.Arg605His)single nucleotide variantLikely pathogenicrs267606962GRCh37Chr 1, 46655211: 46655211
44POMGNT1NM_001243766.1(POMGNT1): c.1864delC (p.Leu622Trpfs)deletionLikely pathogenicrs386834021GRCh37Chr 1, 46655161: 46655161
45POMGNT1NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs)deletionLikely pathogenicrs386834022GRCh37Chr 1, 46655149: 46655149
46POMGNT1NM_001243766.1(POMGNT1): c.1869+27G> Asingle nucleotide variantLikely pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
47POMGNT1NM_001243766.1(POMGNT1): c.1869+27G> Tsingle nucleotide variantLikely pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
48POMGNT1NM_017739.3(POMGNT1): c.1895+1_1895+4delGTGAdeletionLikely pathogenicrs386834023GRCh37Chr 1, 46655126: 46655129
49POMGNT1NM_001243766.1(POMGNT1): c.1870-1G> Csingle nucleotide variantLikely pathogenicrs386834025GRCh37Chr 1, 46655030: 46655030
50POMGNT1NM_001243766.1(POMGNT1): c.1902delT (p.Pro635Leufs)deletionLikely pathogenicrs386834026GRCh37Chr 1, 46654997: 46654997
51POMGNT1NM_001243766.1(POMGNT1): c.25dupC (p.Leu9Profs)duplicationLikely pathogenicrs386834027GRCh37Chr 1, 46663468: 46663469
52POMGNT1NM_001243766.1(POMGNT1): c.351delC (p.Thr118Argfs)deletionLikely pathogenicrs386834028GRCh37Chr 1, 46662406: 46662406
53POMGNT1NM_001243766.1(POMGNT1): c.447delT (p.Phe149Leufs)deletionLikely pathogenicrs386834029GRCh37Chr 1, 46661570: 46661570
54POMGNT1NM_001243766.1(POMGNT1): c.526A> C (p.Thr176Pro)single nucleotide variantLikely pathogenicrs386834030GRCh37Chr 1, 46661491: 46661491
55POMGNT1NM_001243766.1(POMGNT1): c.593delG (p.Ser198Thrfs)deletionLikely pathogenicrs386834031GRCh37Chr 1, 46660575: 46660575
56POMGNT1NM_001243766.1(POMGNT1): c.594C> G (p.Ser198Arg)single nucleotide variantLikely pathogenicrs386834032GRCh37Chr 1, 46660574: 46660574
57POMGNT1NM_001243766.1(POMGNT1): c.630G> T (p.Trp210Cys)single nucleotide variantLikely pathogenicrs386834033GRCh37Chr 1, 46660538: 46660538
58POMGNT1NM_001243766.1(POMGNT1): c.643C> T (p.Arg215Ter)single nucleotide variantLikely pathogenicrs386834034GRCh37Chr 1, 46660525: 46660525
59POMGNT1NM_001243766.1(POMGNT1): c.652+1G> Asingle nucleotide variantLikely pathogenicrs386834035GRCh37Chr 1, 46660515: 46660515
60POMGNT1NM_001243766.1(POMGNT1): c.667G> A (p.Glu223Lys)single nucleotide variantLikely pathogenicrs386834036GRCh37Chr 1, 46660309: 46660309
61POMGNT1NM_001243766.1(POMGNT1): c.806G> A (p.Cys269Tyr)single nucleotide variantLikely pathogenicrs386834037GRCh37Chr 1, 46660019: 46660019
62POMGNT1NM_001243766.1(POMGNT1): c.879+5G> Asingle nucleotide variantLikely pathogenicrs386834038GRCh37Chr 1, 46659941: 46659941
63POMGNT1NM_001243766.1(POMGNT1): c.879+5G> Tsingle nucleotide variantLikely pathogenicrs386834038GRCh37Chr 1, 46659941: 46659941
64POMGNT1NM_001243766.1(POMGNT1): c.931C> T (p.Arg311Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386834039GRCh37Chr 1, 46659546: 46659546
65POMGNT1NM_001243766.1(POMGNT1): c.982dupG (p.Val328Glyfs)duplicationLikely pathogenicrs386834040GRCh37Chr 1, 46659279: 46659280
66GMPPBNM_013334.3(GMPPB): c.220C> T (p.Arg74Ter)single nucleotide variantPathogenicrs397509423GRCh37Chr 3, 49760726: 49760726
67LARGELARGE, 63-KB DELdeletionPathogenic
68LARGENM_004737.4(LARGE): c.1483T> C (p.Trp495Arg)single nucleotide variantPathogenicrs267607209GRCh37Chr 22, 33700462: 33700462
69LARGELARGE, GLN87FSundetermined variantPathogenic
70LARGENM_004737.4(LARGE): c.992C> T (p.Ser331Phe)single nucleotide variantPathogenicrs267607210GRCh37Chr 22, 33780191: 33780191

Expression for genes affiliated with Muscle Eye Brain Disease

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

Pathways for genes affiliated with Muscle Eye Brain Disease

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.9POMT1, POMT2, POMGNT1

Compounds for genes affiliated with Muscle Eye Brain Disease

About this section
Sources:
24HMDB, 28IUPHAR, 43Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1Dolichyl phosphate D-mannose249.4POMT1, POMT2
2dolichol phosphate28 2410.2POMT1, POMT2
3manganese43 249.9POMT1, POMT2, POMGNT1

GO Terms for genes affiliated with Muscle Eye Brain Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057839.2B3GALNT2, FKTN, POMT1
2Golgi membraneGO:00001398.5B3GALNT2, FKRP, FKTN, POMGNT1
3integral component of membraneGO:00160217.3POMGNT1, POMT2, POMT1, FKTN, FKRP, B3GALNT2

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

idNameGO IDScoreTop Affiliating Genes
1protein glycosylationGO:00064869.3B3GALNT2, LARGE
2protein O-linked glycosylationGO:00064939.0B3GALNT2, POMT1, POMGNT1
3glycoprotein biosynthetic processGO:00091018.9FKRP, LARGE

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

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:00167409.5FKRP, FKTN
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:00041699.4POMT1, POMT2
3acetylglucosaminyltransferase activityGO:00083759.0B3GALNT2, LARGE

Products for genes affiliated with Muscle Eye Brain Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Muscle Eye Brain Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet