MCID: MSC047
MIFTS: 53

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 malady

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

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

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 1 51 26 12
Walker-Warburg Syndrome 11 47 24 25 53 69 49 38 13
Hard Syndrome 11 47 25 53 69
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 11 25 69
Walker-Warburg Congenital Muscular Dystrophy 25 26 67
Hard +/- E Syndrome 47 24 69
Cod-Md Syndrome 47 25 69
Wws 24 53 69
Cerebroocular Dysgenesis 47 69
Warburg Syndrome 47 69
Chemke Syndrome 47 25
Muscular Dystrophy Congenital Associated with Calf Hypertrophy Microcephaly and Severe Mental Retardation 69
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A1 69
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 1a 69
 
Muscular Dystrophy Congenital Plus Mental Retardation 69
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 47
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 53
Hydrocephalus, Agyria, and Retinal Dysplasia 25
Hydrocephalus, Agyria and Retinal Dysplasia 47
Hydrocephalus-Agyria-Retinal Dysplasia 69
Muscle-Eye-Brain Disease Pomt1-Related 69
Walker-Warburg Syndrome Pomt1-Related 69
Muscle Eye Brain Disease 67
Muscle-Eye-Brain Disease 69
Pagon Syndrome 47
Mddga1 69
Meb 69
Cod 69

Characteristics:

Orphanet epidemiological data:

53
walker-warburg syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

63
muscular dystrophy-dystroglycanopathy , type a, 1:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM51 236670
Disease Ontology11 DOID:0050560
Orphanet53 ORPHA899
MESH via Orphanet39 D058494
ICD10 via Orphanet30 Q04.3
MedGen36 C0265221
MeSH38 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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OMIM:51 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more... (236670) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as walker-warburg syndrome, is related to muscular dystrophy-dystroglycanopathy , type b, 1 and palmer pagon syndrome, and has symptoms including hydrocephalus, chorioretinal abnormality and retinal detachment. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways are Other types of O-glycan biosynthesis and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include eye, brain and skeletal muscle, and related mouse phenotypes are behavior/neurological and muscle.

Genetics Home Reference:25 Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.

UniProtKB/Swiss-Prot:69 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

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 muscular dystrophy-dystroglycanopathy , type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type b, 132.4FKRP, FKTN, POMT1
2palmer pagon syndrome11.9
3atlantic cod allergy11.8
4muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1111.8
5muscular dystrophy-dystroglycanopathy , type a, 311.7
6muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 811.7
7muscular dystrophy-dystroglycanopathy , type a, 911.7
8muscular dystrophy-dystroglycanopathy , type a, 711.7
9muscular dystrophy-dystroglycanopathy , type a, 1211.7
10muscular dystrophy-dystroglycanopathy , type a, 411.7
11muscular dystrophy-dystroglycanopathy , type a, 1311.7
12muscular dystrophy-dystroglycanopathy , type a, 1011.7
13muscular dystrophy-dystroglycanopathy , type a, 211.7
14muscular dystrophy-dystroglycanopathy , type a, 511.7
15muscular dystrophy-dystroglycanopathy , type a, 611.7
16muscular dystrophy-dystroglycanopathy , type a, 1411.7
17muscular dystrophy, congenital, merosin-positive11.1
18muscular dystrophy-dystroglycanopathy , type c, 111.1
19congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1011.0
20congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1211.0
21congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1311.0
22congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1411.0
23fkrp-related muscle diseases11.0
24intellectual disability-developmental delay-contractures syndrome10.8
25muscular dystrophy10.5
26intellectual disability-facial dysmorphism-hand anomalies syndrome10.5FKRP, FKTN, ISPD, POMT1
27finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome10.4FKRP, LARGE1, POMT1, POMT2
28intellectual disability-seizures-macrocephaly-obesity syndrome10.4FKRP, POMGNT1, POMK, POMT1, POMT2
29cubitus valgus with mental retardation and unusual facies10.3DMD, LAMA2
30schindler disease10.3DAG1, DMD, SGCA
31gastric antral vascular ectasia10.3FKTN, POMGNT1, POMT1
32proliferating trichilemmal cyst10.3DMD, FKRP, POMT2, SGCA
33hydrocephalus10.3
34hyperphosphatemia10.2DAG1, FKRP, FKTN, ISPD, TMEM5
35retinitis10.2
36muscle eye brain disease10.2
37neuronitis10.1
38cleft lip10.1
39muscular dystrophy-dystroglycanopathy , type b, 410.1DMD, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
40thrombocytopenia, x-linked10.1DMD, FKRP, FKTN, LAMA2, SGCA
41chronic granulomatous disease, x-linked10.1DMD, SGCA
42myopathy10.1
43retinal detachment10.1
44limb-girdle muscular dystrophy10.1
45congenital hydrocephalus10.1
46immunodeficiency 34, mycobacteriosis, x-linked10.0DAG1, DMD, LAMA2, SGCA
47classic variant of chromophobe renal cell carcinoma10.0DAG1, DMD, FKRP, FKTN, LAMA2, SGCA
48ectodermal dysplasia10.0DAG1, DMD, FKTN, LAMA2, SGCA
49duchenne muscular dystrophy9.9
50cataract9.9

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 for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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Symptoms by clinical synopsis from OMIM:

236670

Clinical features from OMIM:

236670

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

 63 (show all 69)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus63 hallmark (90%) HP:0000238
2 chorioretinal abnormality63 hallmark (90%) HP:0000532
3 retinal detachment63 hallmark (90%) HP:0000541
4 optic atrophy63 hallmark (90%) HP:0000648
5 muscular hypotonia63 hallmark (90%) HP:0001252
6 reduced tendon reflexes63 hallmark (90%) HP:0001315
7 muscle weakness63 hallmark (90%) HP:0001324
8 talipes63 hallmark (90%) HP:0001883
9 abnormality of neuronal migration63 hallmark (90%) HP:0002269
10 skeletal muscle atrophy63 hallmark (90%) HP:0003202
11 aplasia/hypoplasia of the cerebellum63 hallmark (90%) HP:0007360
12 cognitive impairment63 hallmark (90%) HP:0100543
13 cryptorchidism63 typical (50%) HP:0000028
14 macrocephaly63 typical (50%) HP:0000256
15 glaucoma63 typical (50%) HP:0000501
16 dandy-walker malformation63 typical (50%) HP:0001305
17 abnormality of the vitreous humor63 typical (50%) HP:0004327
18 aplasia/hypoplasia of the corpus callosum63 typical (50%) HP:0007370
19 opacification of the corneal stroma63 typical (50%) HP:0007759
20 aplasia/hypoplasia affecting the eye63 typical (50%) HP:0008056
21 hypoplasia of penis63 typical (50%) HP:0008736
22 cleft palate63 occasional (7.5%) HP:0000175
23 microcephaly63 occasional (7.5%) HP:0000252
24 low-set, posteriorly rotated ears63 occasional (7.5%) HP:0000368
25 abnormality of the pinna63 occasional (7.5%) HP:0000377
26 microcornea63 occasional (7.5%) HP:0000482
27 cataract63 occasional (7.5%) HP:0000518
28 iris coloboma63 occasional (7.5%) HP:0000612
29 seizures63 occasional (7.5%) HP:0001250
30 encephalocele63 occasional (7.5%) HP:0002084
31 abnormality of the upper urinary tract63 occasional (7.5%) HP:0010935
32 non-midline cleft lip63 occasional (7.5%) HP:0100335
33 hypoplastic male external genitalia63 HP:0000050
34 renal dysplasia63 HP:0000110
35 cleft upper lip63 HP:0000204
36 atresia of the external auditory canal63 HP:0000413
37 megalocornea63 HP:0000485
38 myopia63 HP:0000545
39 buphthalmos63 HP:0000557
40 microphthalmia63 HP:0000568
41 coloboma63 HP:0000589
42 optic nerve hypoplasia63 HP:0000609
43 blindness63 HP:0000618
44 peters anomaly63 HP:0000659
45 retinal atrophy63 HP:0001105
46 global developmental delay63 HP:0001263
47 agenesis of corpus callosum63 HP:0001274
48 pachygyria63 HP:0001302
49 cerebellar hypoplasia63 HP:0001321
50 anal atresia63 HP:0002023
51 hypoplasia of the corpus callosum63 HP:0002079
52 occipital encephalocele63 HP:0002085
53 polymicrogyria63 HP:0002126
54 intellectual disability, profound63 HP:0002187
55 excessive daytime sleepiness63 HP:0002189
56 hypoplasia of the brainstem63 HP:0002365
57 congenital contracture63 HP:0002803
58 elevated serum creatine phosphokinase63 HP:0003236
59 congenital muscular dystrophy63 HP:0003741
60 severe muscular hypotonia63 HP:0006829
61 meningoencephalocele63 HP:0006888
62 thick cerebral cortex63 HP:0006891
63 cerebellar dysplasia63 HP:0007033
64 type ii lissencephaly63 HP:0007260
65 posterior fossa cyst63 HP:0007291
66 corneal opacity63 HP:0007957
67 retinal dysplasia63 HP:0007973
68 microtia63 HP:0008551
69 intellectual disability, severe63 HP:0010864

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


seizures

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
2MRI on Persons With Mutations in POMT2 Gene (LGMD2N)Active, not recruitingNCT02759302

Search 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

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

id Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 126
2 Walker-Warburg Congenital Muscular Dystrophy26
3 Walker-Warburg Syndrome24

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

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

35
Eye, Brain, Skeletal muscle, Cortex, Cerebellum

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 1 or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.4B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
2MP:00053699.4B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
3MP:00053769.4COL4A1, DAG1, DMD, FKRP, FKTN, LAMA2
4MP:00053789.3COL4A1, DAG1, DMD, FKRP, FKTN, LAMA2
5MP:00053919.3COL4A1, DAG1, DMD, FKRP, LAMB2, LARGE1
6MP:00053849.1B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
7MP:00107689.0B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
8MP:00036318.9B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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

69
id Symbol AA change Variation ID SNP ID
1POMT1p.Gly76ArgVAR_015734rs28941782
2POMT1p.Val428AspVAR_015735
3POMT1p.Ser537ArgVAR_026697rs150367385
4POMT1p.Arg105CysVAR_065028
5POMT1p.Arg105HisVAR_065029
6POMT1p.Gly207ValVAR_065031

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

5 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1B4GAT1NM_006876.2(B4GAT1): c.821_822insTT (p.Glu274Aspfs)insertionLikely pathogenicrs730882237GRCh38Chr 11, 66346724: 66346725
2POMT1NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter)SNVPathogenicrs794727208GRCh37Chr 9, 134396832: 134396832
3POMT1NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu)SNVPathogenicrs149682171GRCh37Chr 9, 134397500: 134397500
4POMT1NM_007171.3(POMT1): c.2070-1G> CSNVPathogenicrs745738628GRCh37Chr 9, 134398318: 134398318
5POMT1NM_001077365.1(POMT1): c.558G> A (p.Trp186Ter)SNVLikely pathogenicrs772370177GRCh37Chr 9, 134385148: 134385148
6FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)SNV, Phase unknownPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
7FKTNNM_001079802.1(FKTN): c.607C> T (p.Arg203Ter)SNVPathogenicrs746763506GRCh38Chr 9, 105604452: 105604452
8POMT1NM_007171.3(POMT1): c.226G> A (p.Gly76Arg)SNVPathogenicrs28941782GRCh37Chr 9, 134381604: 134381604
9POMT1NM_007171.3(POMT1): c.907C> T (p.Gln303Ter)SNVPathogenicrs119462981GRCh37Chr 9, 134385788: 134385788
10POMT1NM_007171.3(POMT1): c.2110dupG (p.Ala704Glyfs)duplicationPathogenicrs587777817GRCh38Chr 9, 131522972: 131522972
11POMT1NM_007171.3(POMT1): c.1260_1262delCCT (p.Leu421del)deletionPathogenicrs587777818GRCh38Chr 9, 131515444: 131515446
12POMT1NM_007171.3(POMT1): c.598G> C (p.Ala200Pro)SNVPathogenicrs119462982GRCh37Chr 9, 134385188: 134385188
13POMT1NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter)SNVPathogenicrs119462985GRCh37Chr 9, 134394332: 134394332
14POMT1NM_007171.3(POMT1): c.1770G> C (p.Gln590His)SNVPathogenicrs119462986GRCh37Chr 9, 134396738: 134396738
15POMT1NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr)SNVPathogenicrs119462987GRCh37Chr 9, 134397547: 134397547
16POMT1NM_007171.3(POMT1): c.2179_2180delTC (p.Ser727Alafs)deletionPathogenicrs587777819GRCh37Chr 9, 134398428: 134398429
17POMT1NM_007171.3(POMT1): c.418_420delATG (p.Met140del)deletionPathogenicrs587777820GRCh38Chr 9, 131507505: 131507507
18POMT1NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs)duplicationPathogenicrs398124245GRCh37Chr 9, 134398416: 134398416
19POMGNT1NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn)SNVLikely pathogenic, Pathogenicrs193919335GRCh37Chr 1, 46656145: 46656145
20POMGNT1NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs)deletionLikely pathogenic, Pathogenicrs386834017GRCh38Chr 1, 46189920: 46189920
21POMGNT1NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys)SNVPathogenicrs28940869GRCh37Chr 1, 46658069: 46658069
22POMGNT1NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln)SNVLikely pathogenic, Pathogenicrs193919336GRCh38Chr 1, 46193873: 46193873
23POMGNT1NM_017739.3(POMGNT1): c.652+1G> ASNVLikely pathogenic, Pathogenicrs386834035GRCh38Chr 1, 46194843: 46194843
24POMGNT1NM_017739.3(POMGNT1): c.1539+1G> ASNVLikely pathogenic, Pathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
25POMGNT1NM_017739.3(POMGNT1): c.1539+1G> TSNVPathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
26POMGNT1NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs)deletionLikely pathogenic, Pathogenicrs386834022GRCh37Chr 1, 46655149: 46655149
27POMGNT1NM_017739.3(POMGNT1): c.1895+1G> ASNVLikely pathogenic, Pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
28POMGNT1NM_017739.3(POMGNT1): c.643C> T (p.Arg215Ter)SNVLikely pathogenic, Pathogenicrs386834034GRCh37Chr 1, 46660525: 46660525
29POMGNT1NM_017739.3(POMGNT1): c.931C> T (p.Arg311Ter)SNVLikely pathogenic, Pathogenicrs386834039GRCh37Chr 1, 46659546: 46659546
30POMT1NM_007171.3(POMT1): c.1153C> T (p.Gln385Ter)SNVPathogenicrs200056620GRCh37Chr 9, 134388630: 134388630
31POMT1NM_007171.3(POMT1): c.793C> T (p.Arg265Ter)SNVPathogenicrs398124247GRCh37Chr 9, 134385674: 134385674

Copy number variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12471879129300000134900000Copy numberPOMT1Walker-Warburg syndrome

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan complexGO:001601110.7DAG1, SGCA
2basal laminaGO:000560510.5LAMA2, LAMB2
3costamereGO:004303410.4DAG1, DMD
4basement membraneGO:000560410.3COL4A1, DAG1, LAMA2, LAMB2
5dystrophin-associated glycoprotein complexGO:001601010.1DAG1, DMD, FKRP, SGCA
6sarcolemmaGO:00423839.9DAG1, DMD, FKRP, LAMA2, SGCA
7Golgi membraneGO:00001399.6B3GALNT2, B4GAT1, FKRP, FKTN, LARGE1, MGAT4C
8integral component of membraneGO:00160218.4ALG1, B3GALNT2, DAG1, FKRP, FKTN, MGAT4C

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cell wall mannoprotein biosynthetic processGO:000003210.9POMT1, POMT2
2glycoprotein biosynthetic processGO:000910110.7FKRP, LARGE1
3basement membrane organizationGO:007171110.5COL4A1, DAG1
4myelination in peripheral nervous systemGO:002201110.5DAG1, LAMA2
5Schwann cell developmentGO:001404410.5DAG1, LAMB2
6muscle cell cellular homeostasisGO:004671610.3DMD, LARGE1
7muscle organ developmentGO:00075179.9DMD, FKTN, LAMA2, SGCA
8protein glycosylationGO:00064869.8ALG1, B3GALNT2, B4GAT1, LARGE1
9axon guidanceGO:00074119.7B4GAT1, ISPD, LAMA2, LAMB2
10protein O-linked glycosylationGO:00064939.6B3GALNT2, DAG1, LARGE1, POMGNT1, POMGNT2, POMK
11extracellular matrix organizationGO:00301989.5COL4A1, DAG1, LAMA2, LAMB2, POMT1
12protein O-linked mannosylationGO:00352699.2B4GAT1, FKRP, FKTN, ISPD, LARGE1, POMGNT2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glucuronosyltransferase activityGO:001502010.6B4GAT1, LARGE1
2acetylglucosaminyltransferase activityGO:000837510.6B3GALNT2, LARGE1, POMGNT2
3dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.4POMT1, POMT2
4mannosyltransferase activityGO:000003010.3ALG1, POMT1
5vinculin bindingGO:001716610.3DAG1, DMD
6dystroglycan bindingGO:000216210.2DAG1, DMD
7transferase activityGO:001674010.2FKRP, FKTN

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet