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 52 27 12
Walker-Warburg Syndrome 11 48 24 25 54 70 50 39 13
Hard Syndrome 11 48 25 54 70
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 11 25 70
Walker-Warburg Congenital Muscular Dystrophy 25 27 68
Hard +/- E Syndrome 48 24 70
Cod-Md Syndrome 48 25 70
Wws 24 54 70
Cerebroocular Dysgenesis 48 70
Warburg Syndrome 48 70
Chemke Syndrome 48 25
Muscular Dystrophy Congenital Associated with Calf Hypertrophy Microcephaly and Severe Mental Retardation 70
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A1 70
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 1a 70
 
Muscular Dystrophy Congenital Plus Mental Retardation 70
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 48
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 54
Hydrocephalus, Agyria, and Retinal Dysplasia 25
Hydrocephalus, Agyria and Retinal Dysplasia 48
Hydrocephalus-Agyria-Retinal Dysplasia 70
Muscle-Eye-Brain Disease Pomt1-Related 70
Walker-Warburg Syndrome Pomt1-Related 70
Muscle Eye Brain Disease 68
Muscle-Eye-Brain Disease 70
Pagon Syndrome 48
Mddga1 70
Meb 70
Cod 70

Characteristics:

Orphanet epidemiological data:

54
walker-warburg syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

64
muscular dystrophy-dystroglycanopathy , type a, 1:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 236670
Disease Ontology11 DOID:0050560
Orphanet54 ORPHA899
MESH via Orphanet40 D058494
ICD10 via Orphanet31 Q04.3
MedGen37 C0265221
MeSH39 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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OMIM:52 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.

NIH Rare Diseases:48 Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. Signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. It is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. Most children do not survive beyond the age of three years. It may be caused by mutations in any of several genes including the POMT1, POMT2 and FKRP genes, although in many individuals the genetic cause is unknown. WWS is inherited in an autosomal recessive manner. No specific treatment is available; management is generally supportive and preventive. Last updated: 3/23/2011

UniProtKB/Swiss-Prot:70 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 & Phenotypes 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:

 64 (show all 69)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus64 hallmark (90%) HP:0000238
2 chorioretinal abnormality64 hallmark (90%) HP:0000532
3 retinal detachment64 hallmark (90%) HP:0000541
4 optic atrophy64 hallmark (90%) HP:0000648
5 muscular hypotonia64 hallmark (90%) HP:0001252
6 reduced tendon reflexes64 hallmark (90%) HP:0001315
7 muscle weakness64 hallmark (90%) HP:0001324
8 talipes64 hallmark (90%) HP:0001883
9 abnormality of neuronal migration64 hallmark (90%) HP:0002269
10 skeletal muscle atrophy64 hallmark (90%) HP:0003202
11 aplasia/hypoplasia of the cerebellum64 hallmark (90%) HP:0007360
12 cognitive impairment64 hallmark (90%) HP:0100543
13 cryptorchidism64 typical (50%) HP:0000028
14 macrocephaly64 typical (50%) HP:0000256
15 glaucoma64 typical (50%) HP:0000501
16 dandy-walker malformation64 typical (50%) HP:0001305
17 abnormality of the vitreous humor64 typical (50%) HP:0004327
18 aplasia/hypoplasia of the corpus callosum64 typical (50%) HP:0007370
19 opacification of the corneal stroma64 typical (50%) HP:0007759
20 aplasia/hypoplasia affecting the eye64 typical (50%) HP:0008056
21 hypoplasia of penis64 typical (50%) HP:0008736
22 cleft palate64 occasional (7.5%) HP:0000175
23 microcephaly64 occasional (7.5%) HP:0000252
24 low-set, posteriorly rotated ears64 occasional (7.5%) HP:0000368
25 abnormality of the pinna64 occasional (7.5%) HP:0000377
26 microcornea64 occasional (7.5%) HP:0000482
27 cataract64 occasional (7.5%) HP:0000518
28 iris coloboma64 occasional (7.5%) HP:0000612
29 seizures64 occasional (7.5%) HP:0001250
30 encephalocele64 occasional (7.5%) HP:0002084
31 abnormality of the upper urinary tract64 occasional (7.5%) HP:0010935
32 non-midline cleft lip64 occasional (7.5%) HP:0100335
33 hypoplastic male external genitalia64 HP:0000050
34 renal dysplasia64 HP:0000110
35 cleft upper lip64 HP:0000204
36 atresia of the external auditory canal64 HP:0000413
37 megalocornea64 HP:0000485
38 myopia64 HP:0000545
39 buphthalmos64 HP:0000557
40 microphthalmia64 HP:0000568
41 coloboma64 HP:0000589
42 optic nerve hypoplasia64 HP:0000609
43 blindness64 HP:0000618
44 peters anomaly64 HP:0000659
45 retinal atrophy64 HP:0001105
46 global developmental delay64 HP:0001263
47 agenesis of corpus callosum64 HP:0001274
48 pachygyria64 HP:0001302
49 cerebellar hypoplasia64 HP:0001321
50 anal atresia64 HP:0002023
51 hypoplasia of the corpus callosum64 HP:0002079
52 occipital encephalocele64 HP:0002085
53 polymicrogyria64 HP:0002126
54 intellectual disability, profound64 HP:0002187
55 excessive daytime sleepiness64 HP:0002189
56 hypoplasia of the brainstem64 HP:0002365
57 congenital contracture64 HP:0002803
58 elevated serum creatine phosphokinase64 HP:0003236
59 congenital muscular dystrophy64 HP:0003741
60 severe muscular hypotonia64 HP:0006829
61 meningoencephalocele64 HP:0006888
62 thick cerebral cortex64 HP:0006891
63 cerebellar dysplasia64 HP:0007033
64 type ii lissencephaly64 HP:0007260
65 posterior fossa cyst64 HP:0007291
66 corneal opacity64 HP:0007957
67 retinal dysplasia64 HP:0007973
68 microtia64 HP:0008551
69 intellectual disability, severe64 HP:0010864

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


seizures

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

41
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

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, 127
2 Walker-Warburg Congenital Muscular Dystrophy27
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:

36
Eye, Brain, Skeletal muscle, Cortex, Cerebellum

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:

70
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:001601110.9DAG1, SGCA
2costamereGO:004303410.9DAG1, DMD
3basal laminaGO:000560510.8LAMA2, LAMB2
4dystrophin-associated glycoprotein complexGO:001601010.6DAG1, DMD, FKRP, SGCA
5basement membraneGO:000560410.5COL4A1, DAG1, LAMA2, LAMB2
6Golgi membraneGO:00001399.9B3GALNT2, B4GAT1, FKRP, FKTN, LARGE1, MGAT4C
7sarcolemmaGO:00423839.6DAG1, DMD, FKRP, LAMA2, SGCA
8integral component of membraneGO:00160219.0ALG1, 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:000910110.8FKRP, LARGE1
3basement membrane organizationGO:007171110.8COL4A1, DAG1
4muscle cell cellular homeostasisGO:004671610.7DMD, LARGE1
5myelination in peripheral nervous systemGO:002201110.7DAG1, LAMA2
6axon guidanceGO:000741110.4B4GAT1, ISPD, LAMA2, LAMB2
7muscle organ developmentGO:000751710.3DMD, FKTN, LAMA2, SGCA
8extracellular matrix organizationGO:003019810.2COL4A1, DAG1, LAMA2, LAMB2, POMT1
9protein glycosylationGO:000648610.2ALG1, B3GALNT2, B4GAT1, LARGE1
10Schwann cell developmentGO:001404410.1DAG1, LAMB2
11protein O-linked glycosylationGO:00064939.6B3GALNT2, DAG1, LARGE1, POMGNT1, POMGNT2, POMK
12protein O-linked mannosylationGO:00352699.4B4GAT1, 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
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.9POMT1, POMT2
2glucuronosyltransferase activityGO:001502010.9B4GAT1, LARGE1
3dystroglycan bindingGO:000216210.8DAG1, DMD
4mannosyltransferase activityGO:000003010.8ALG1, POMT1
5acetylglucosaminyltransferase activityGO:000837510.7B3GALNT2, LARGE1, POMGNT2
6transferase activityGO:001674010.5FKRP, FKTN
7vinculin bindingGO:001716610.1DAG1, DMD

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet