MCID: MSC047
MIFTS: 54

Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 1 57 29 13 6
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 57 75
Walker-Warburg Syndrome 75 44
Cod-Md Syndrome 57 75
Hard Syndrome 57 75
Mddga1 57 75
Muscular Dystrophy Congenital Associated with Calf Hypertrophy Microcephaly and Severe Mental Retardation 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A1 75
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 1a 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related 57
Muscular Dystrophy Congenital Plus Mental Retardation 75
Hydrocephalus, Agyria, and Retinal Dysplasia 57
Walker-Warburg Congenital Muscular Dystrophy 73
Hydrocephalus-Agyria-Retinal Dysplasia 75
Muscle-Eye-Brain Disease Pomt1-Related 75
Walker-Warburg Syndrome Pomt1-Related 75
Muscle Eye Brain Disease 73
Muscle-Eye-Brain Disease 75
Cerebroocular Dysgenesis 75
Hard +/- E Syndrome 75
Warburg Syndrome 75
Wws 75
Meb 75
Cod 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity
onset prenatally or at birth
severe disorder
majority of wws patients die within the first year of life
patients with meb have less severe features and longer survival
patients with meb may acquire ability to walk and a few words


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 1:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

OMIM : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). (236670)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as cerebroocular dysplasia-muscular dystrophy syndrome, is related to muscular dystrophy-dystroglycanopathy , type c, 1 and muscle eye brain disease, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism and O-linked glycosylation. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are agenesis of corpus callosum and hydrocephalus

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 1 31.0 POMT1 POMT2
2 muscle eye brain disease 29.7 FKRP FKTN LARGE1 POMT1 POMT2
3 walker-warburg syndrome 29.0 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type a, 4 28.2 FKRP FKTN LARGE1 POMT1 POMT2
5 atlantic cod allergy 11.9
6 fukuyama type muscular dystrophy 10.9
7 muscular dystrophy-dystroglycanopathy , type a, 3 10.8
8 muscular dystrophy-dystroglycanopathy , type a, 2 10.8
9 muscular dystrophy-dystroglycanopathy , type a, 5 10.8
10 muscular dystrophy-dystroglycanopathy , type a, 6 10.8
11 muscular dystrophy-dystroglycanopathy , type b, 1 10.8
12 muscular dystrophy-dystroglycanopathy , type a, 7 10.8
13 muscular dystrophy-dystroglycanopathy , type a, 8 10.8
14 muscular dystrophy-dystroglycanopathy , type a, 10 10.8
15 muscular dystrophy-dystroglycanopathy , type a, 11 10.8
16 muscular dystrophy-dystroglycanopathy , type a, 12 10.8
17 muscular dystrophy-dystroglycanopathy , type a, 13 10.8
18 muscular dystrophy-dystroglycanopathy , type a, 9 10.8
19 muscular dystrophy, congenital, 1b 10.0 FKRP FKTN
20 autosomal recessive limb-girdle muscular dystrophy 9.9 FKRP POMT1
21 congenital nervous system abnormality 9.9 FKTN POMT1
22 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 POMT1 POMT2
23 muscle tissue disease 9.7 FKRP FKTN
24 congenital muscular dystrophy without intellectual disability 9.7 FKRP FKTN POMT1
25 muscular dystrophy, congenital, lmna-related 9.6 FKRP FKTN POMT1
26 limb-girdle muscular dystrophy 9.5 FKRP FKTN POMT1
27 congenital muscular dystrophy with cerebellar involvement 9.4 FKRP POMT1 POMT2
28 lissencephaly 9.4 FKRP FKTN
29 muscular dystrophy-dystroglycanopathy 9.4 FKRP POMT1 POMT2
30 muscular dystrophy-dystroglycanopathy , type c, 4 9.4 FKRP FKTN POMT2
31 muscular dystrophy, limb-girdle, type 2l 8.9 FKRP FKTN POMT1 POMT2
32 muscular dystrophy-dystroglycanopathy , type b, 5 8.9 FKRP FKTN POMT1 POMT2
33 ablepharon-macrostomia syndrome 8.7 FKRP FKTN LARGE1 POMT1
34 congenital muscular dystrophy with intellectual disability 8.5 FKRP LARGE1 POMT1 POMT2
35 muscular dystrophy-dystroglycanopathy , type b, 6 8.0 FKRP FKTN LARGE1 POMT1 POMT2
36 muscular dystrophy 7.9 FKRP FKTN LARGE1 POMT1 POMT2

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type a, 1

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
cerebellar hypoplasia
cerebellar dysplasia
ventricular dilatation
more
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
elevated serum creatine kinase

Head And Neck Ears:
microtia (wws)
absent auditory canals (wws)

Genitourinary External Genitalia Male:
hypoplastic genitalia (wws)

Head And Neck Eyes:
cataract
myopia
glaucoma
corneal clouding
retinal atrophy
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
virtually no active movement at birth (wws)
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Skeletal Limbs:
congenital contractures

Head And Neck Mouth:
cleft lip (wws)
cleft palate (wws)

Genitourinary Kidneys:
renal dysplasia (wws)


Clinical features from OMIM:

236670

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

32 (show all 46)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 hydrocephalus 32 HP:0000238
3 seizures 32 HP:0001250
4 muscular hypotonia 32 HP:0001252
5 cataract 32 HP:0000518
6 global developmental delay 32 HP:0001263
7 corneal opacity 32 HP:0007957
8 microtia 32 HP:0008551
9 microcephaly 32 HP:0000252
10 blindness 32 HP:0000618
11 intellectual disability, severe 32 HP:0010864
12 elevated serum creatine phosphokinase 32 HP:0003236
13 cleft palate 32 HP:0000175
14 megalocornea 32 HP:0000485
15 myopia 32 HP:0000545
16 optic nerve hypoplasia 32 HP:0000609
17 cerebellar hypoplasia 32 HP:0001321
18 microphthalmia 32 HP:0000568
19 glaucoma 32 HP:0000501
20 retinal detachment 32 HP:0000541
21 anal atresia 32 HP:0002023
22 retinal dysplasia 32 HP:0007973
23 buphthalmos 32 HP:0000557
24 intellectual disability, profound 32 HP:0002187
25 cleft upper lip 32 HP:0000204
26 atresia of the external auditory canal 32 HP:0000413
27 pachygyria 32 HP:0001302
28 polymicrogyria 32 HP:0002126
29 dandy-walker malformation 32 HP:0001305
30 congenital muscular dystrophy 32 HP:0003741
31 hypoplasia of the corpus callosum 32 HP:0002079
32 cerebellar dysplasia 32 HP:0007033
33 occipital encephalocele 32 HP:0002085
34 coloboma 32 HP:0000589
35 peters anomaly 32 HP:0000659
36 renal dysplasia 32 HP:0000110
37 congenital contracture 32 HP:0002803
38 severe muscular hypotonia 32 HP:0006829
39 thick cerebral cortex 32 HP:0006891
40 excessive daytime sleepiness 32 HP:0002189
41 type ii lissencephaly 32 HP:0007260
42 hypoplasia of the brainstem 32 HP:0002365
43 hypoplastic male external genitalia 32 HP:0000050
44 posterior fossa cyst 32 HP:0007291
45 retinal atrophy 32 HP:0001105
46 meningoencephalocele 32 HP:0006888

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:


seizures

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.65 B4GAT1 FKRP FKTN LARGE1 POMT1
2 mortality/aging MP:0010768 9.63 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2
3 muscle MP:0005369 9.35 B4GAT1 FKRP FKTN LARGE1 POMT1
4 nervous system MP:0003631 9.02 B4GAT1 FKRP FKTN LARGE1 POMT2

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Cochrane evidence based reviews: walker-warburg syndrome

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 1 29 FKRP FKTN LARGE1 POMT1 POMT2

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

41
Brain, Eye, Skeletal Muscle, Cortex, Pons, Kidney, Testis

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

(show top 50) (show all 129)
# Title Authors Year
1
Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome. ( 29386918 )
2018
2
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. ( 29791932 )
2018
3
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. ( 28980384 )
2017
4
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. ( 29337005 )
2017
5
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. ( 28815891 )
2017
6
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
7
Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 29187032 )
2017
8
Post Mortem Diagnostic Exome Sequencing Identifies a de novo TUBB3 Alteration in a Newborn with Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 27490173 )
2016
9
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. ( 28116189 )
2016
10
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. ( 26495167 )
2015
11
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome. ( 26265907 )
2015
12
Cochlear malformation and sensorineural hearing loss in the Walker-Warburg Syndrome. ( 25592765 )
2015
13
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. ( 26315758 )
2015
14
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. ( 26087224 )
2015
15
Absence of I+- and I^-dystroglycan is associated with Walker-Warburg syndrome. ( 25934851 )
2015
16
Perioperative considerations in Walker-Warburg syndrome. ( 26401279 )
2015
17
Anesthesia for a child with Walker-Warburg syndrome. ( 24794457 )
2014
18
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. ( 25488038 )
2014
19
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. ( 24120487 )
2013
20
Missense mutations in I^-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. ( 23359570 )
2013
21
Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination. ( 24082679 )
2013
22
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. ( 23877401 )
2013
23
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. ( 22790300 )
2012
24
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. ( 22002842 )
2012
25
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. ( 22522421 )
2012
26
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ( 22522420 )
2012
27
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. ( 22958903 )
2012
28
Walker-Warburg syndrome. ( 22691590 )
2011
29
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. ( 21625620 )
2011
30
A case study on Walker-Warburg syndrome. ( 20150777 )
2010
31
Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome. ( 20644630 )
2010
32
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. ( 20236121 )
2010
33
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
34
Two cases of Walker-Warburg syndrome complicated by hydrocephalus. ( 20516736 )
2010
35
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. ( 19519795 )
2009
36
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. ( 19266496 )
2009
37
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. ( 19222032 )
2009
38
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. ( 19639522 )
2009
39
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. ( 19791710 )
2009
40
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. ( 18069971 )
2008
41
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. ( 18923033 )
2008
42
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. ( 18640039 )
2008
43
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. ( 18177472 )
2008
44
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. ( 18752264 )
2008
45
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. ( 18490429 )
2008
46
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. ( 17161965 )
2007
47
The Walker-Warburg syndrome with cleft lip and palate. ( 17304384 )
2007
48
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. ( 17079174 )
2007
49
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. ( 17436019 )
2007
50
Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome. ( 17456771 )
2007

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

75
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Gly76Arg VAR_015734 rs28941782
2 POMT1 p.Val428Asp VAR_015735
3 POMT1 p.Ser537Arg VAR_026697 rs150367385
4 POMT1 p.Arg105Cys VAR_065028
5 POMT1 p.Arg105His VAR_065029
6 POMT1 p.Gly207Val VAR_065031

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

6
(show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKTN NM_001079802.1(FKTN): c.527T> C (p.Phe176Ser) single nucleotide variant Pathogenic rs119463996 GRCh37 Chromosome 9, 108366653: 108366653
2 FKTN NM_001079802.1(FKTN): c.527T> C (p.Phe176Ser) single nucleotide variant Pathogenic rs119463996 GRCh38 Chromosome 9, 105604372: 105604372
3 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
4 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh38 Chromosome 14, 77278764: 77278764
5 POMT1 NM_007171.3(POMT1): c.226G> A (p.Gly76Arg) single nucleotide variant Pathogenic rs28941782 GRCh37 Chromosome 9, 134381604: 134381604
6 POMT1 NM_007171.3(POMT1): c.226G> A (p.Gly76Arg) single nucleotide variant Pathogenic rs28941782 GRCh38 Chromosome 9, 131506217: 131506217
7 POMT1 NM_007171.3(POMT1): c.907C> T (p.Gln303Ter) single nucleotide variant Pathogenic rs119462981 GRCh37 Chromosome 9, 134385788: 134385788
8 POMT1 NM_007171.3(POMT1): c.907C> T (p.Gln303Ter) single nucleotide variant Pathogenic rs119462981 GRCh38 Chromosome 9, 131510401: 131510401
9 POMT1 NM_007171.3(POMT1): c.2110dupG (p.Ala704Glyfs) duplication Pathogenic rs587777817 GRCh38 Chromosome 9, 131522972: 131522972
10 POMT1 NM_007171.3(POMT1): c.2110dupG (p.Ala704Glyfs) duplication Pathogenic rs587777817 GRCh37 Chromosome 9, 134398359: 134398359
11 POMT1 NM_007171.3(POMT1): c.1260_1262delCCT (p.Leu421del) deletion Pathogenic rs587777818 GRCh38 Chromosome 9, 131515444: 131515446
12 POMT1 NM_007171.3(POMT1): c.1260_1262delCCT (p.Leu421del) deletion Pathogenic rs587777818 GRCh37 Chromosome 9, 134390831: 134390833
13 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh37 Chromosome 9, 134385188: 134385188
14 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh38 Chromosome 9, 131509801: 131509801
15 POMT1 NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs119462985 GRCh37 Chromosome 9, 134394332: 134394332
16 POMT1 NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs119462985 GRCh38 Chromosome 9, 131518945: 131518945
17 POMT1 NM_007171.3(POMT1): c.1770G> C (p.Gln590His) single nucleotide variant Pathogenic rs119462986 GRCh37 Chromosome 9, 134396738: 134396738
18 POMT1 NM_007171.3(POMT1): c.1770G> C (p.Gln590His) single nucleotide variant Pathogenic rs119462986 GRCh38 Chromosome 9, 131521351: 131521351
19 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
20 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic rs119462987 GRCh38 Chromosome 9, 131522160: 131522160
21 POMT1 NM_007171.3(POMT1): c.2179_2180delTC (p.Ser727Alafs) deletion Pathogenic rs587777819 GRCh37 Chromosome 9, 134398428: 134398429
22 POMT1 NM_007171.3(POMT1): c.2179_2180delTC (p.Ser727Alafs) deletion Pathogenic rs587777819 GRCh38 Chromosome 9, 131523041: 131523042
23 POMT1 NM_007171.3(POMT1): c.418_420delATG (p.Met140del) deletion Pathogenic rs587777820 GRCh38 Chromosome 9, 131507505: 131507507
24 POMT1 NM_007171.3(POMT1): c.418_420delATG (p.Met140del) deletion Pathogenic rs587777820 GRCh37 Chromosome 9, 134382892: 134382894
25 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
26 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh38 Chromosome 9, 131523029: 131523029
27 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
28 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
29 POMT1 NM_007171.3(POMT1): c.1153C> T (p.Gln385Ter) single nucleotide variant Pathogenic rs200056620 GRCh37 Chromosome 9, 134388630: 134388630
30 POMT1 NM_007171.3(POMT1): c.1153C> T (p.Gln385Ter) single nucleotide variant Pathogenic rs200056620 GRCh38 Chromosome 9, 131513243: 131513243
31 POMT1 NM_007171.3(POMT1): c.1280_1281delAGinsTC (p.Glu427Val) indel Likely pathogenic rs398124243 GRCh37 Chromosome 9, 134390851: 134390852
32 POMT1 NM_007171.3(POMT1): c.1280_1281delAGinsTC (p.Glu427Val) indel Likely pathogenic rs398124243 GRCh38 Chromosome 9, 131515464: 131515465
33 POMT1 NM_007171.3(POMT1): c.132A> C (p.Glu44Asp) single nucleotide variant Likely pathogenic rs398124244 GRCh37 Chromosome 9, 134381510: 134381510
34 POMT1 NM_007171.3(POMT1): c.132A> C (p.Glu44Asp) single nucleotide variant Likely pathogenic rs398124244 GRCh38 Chromosome 9, 131506123: 131506123
35 POMT1 NM_007171.3(POMT1): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs398124247 GRCh37 Chromosome 9, 134385674: 134385674
36 POMT1 NM_007171.3(POMT1): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs398124247 GRCh38 Chromosome 9, 131510287: 131510287
37 B4GAT1 NM_006876.2(B4GAT1): c.821_822insTT (p.Glu274Aspfs) insertion Pathogenic/Likely pathogenic rs730882237 GRCh38 Chromosome 11, 66346724: 66346725
38 B4GAT1 NM_006876.2(B4GAT1): c.821_822insTT (p.Glu274Aspfs) insertion Pathogenic/Likely pathogenic rs730882237 GRCh37 Chromosome 11, 66114195: 66114196
39 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh37 Chromosome 9, 134396832: 134396832
40 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh38 Chromosome 9, 131521445: 131521445
41 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh37 Chromosome 9, 134397500: 134397500
42 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh38 Chromosome 9, 131522113: 131522113
43 POMT1 NM_007171.3(POMT1): c.2070-1G> C single nucleotide variant Pathogenic rs745738628 GRCh37 Chromosome 9, 134398318: 134398318
44 POMT1 NM_007171.3(POMT1): c.2070-1G> C single nucleotide variant Pathogenic rs745738628 GRCh38 Chromosome 9, 131522931: 131522931
45 POMT1 NM_001077365.1(POMT1): c.558G> A (p.Trp186Ter) single nucleotide variant Likely pathogenic rs772370177 GRCh37 Chromosome 9, 134385148: 134385148
46 POMT1 NM_001077365.1(POMT1): c.558G> A (p.Trp186Ter) single nucleotide variant Likely pathogenic rs772370177 GRCh38 Chromosome 9, 131509761: 131509761
47 POMT1 NM_007171.3(POMT1): c.942C> T (p.Thr314=) single nucleotide variant Benign rs10901065 GRCh38 Chromosome 9, 131511357: 131511357
48 POMT1 NM_007171.3(POMT1): c.942C> T (p.Thr314=) single nucleotide variant Benign rs10901065 GRCh37 Chromosome 9, 134386744: 134386744
49 POMT1 NM_007171.3(POMT1): c.1113C> T (p.Asp371=) single nucleotide variant Benign rs3739494 GRCh38 Chromosome 9, 131512101: 131512101
50 POMT1 NM_007171.3(POMT1): c.1113C> T (p.Asp371=) single nucleotide variant Benign rs3739494 GRCh37 Chromosome 9, 134387488: 134387488

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 1.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2
2
Show member pathways
11.52 B4GAT1 LARGE1 POMT1 POMT2
3 10.5 POMT1 POMT2
4 10.46 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.73 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2
2 endoplasmic reticulum GO:0005783 9.62 FKRP FKTN POMT1 POMT2
3 Golgi apparatus GO:0005794 9.46 B4GAT1 FKRP FKTN LARGE1
4 integral component of Golgi membrane GO:0030173 8.96 B4GAT1 LARGE1
5 Golgi membrane GO:0000139 8.92 B4GAT1 FKRP FKTN LARGE1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.46 B4GAT1 LARGE1 POMT1 POMT2
2 protein glycosylation GO:0006486 9.43 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2
3 mannosylation GO:0097502 9.4 POMT1 POMT2
4 ER-associated misfolded protein catabolic process GO:0071712 9.37 POMT1 POMT2
5 glycoprotein biosynthetic process GO:0009101 9.32 FKRP LARGE1
6 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
7 protein O-linked mannosylation GO:0035269 9.1 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.43 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2
2 glucuronosyltransferase activity GO:0015020 9.32 B4GAT1 LARGE1
3 mannosyltransferase activity GO:0000030 9.26 POMT1 POMT2
4 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2
5 transferase activity, transferring glycosyl groups GO:0016757 8.92 B4GAT1 LARGE1 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

3 CDC
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