MDDGB5
MCID: MSC035
MIFTS: 49

Muscular Dystrophy-Dystroglycanopathy , Type B, 5 (MDDGB5)

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 5 57 12 75 13
Mdc1c 57 12 75 55
Mddgb5 57 12 75
Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 29 6
Muscular Dystrophy-Dystroglycanopathy Type B5 12 15
Muscular Dystrophy, Congenital, 1c 57 73
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Mental Retardation B5 75
Dystrophy, Muscular, Dystroglycanopathy , Type B5 40
Muscular Dystrophy, Congenital, Fkrp-Related 57
Fkrp-Related Congenital Muscular Dystrophy 12
Muscular Dystrophy, Congenital, 1c; Mdc1c 57
Muscular Dystrophy Congenital Type 1c 75
Congenital Muscular Dystrophy Type 1c 37
Congenital Muscular Dystrophy 1c 12
Muscular Dystrophy Fkrp-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
variable age of onset (range 1-40 years)
some patients never gain ambulation or become wheelchair-bound


HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 5:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

OMIM : 57 MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (606612)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 5, also known as mdc1c, is related to limb-girdle muscular dystrophy and muscular dystrophy-dystroglycanopathy , type a, 4, and has symptoms including generalized muscle weakness, myalgia and facial paresis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Metabolism of proteins. Affiliated tissues include brain, testes and eye, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.2 CAV3 DMD FKRP FKTN LAMA2 LMNA
2 muscular dystrophy-dystroglycanopathy , type a, 4 29.2 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
3 muscular dystrophy, congenital, lmna-related 28.8 DAG1 DMD FKRP FKTN LAMA2 LMNA
4 muscular dystrophy 28.5 AGRN CAV3 DAG1 DMD FKRP FKTN
5 muscular dystrophy-dystroglycanopathy , type a, 5 11.5
6 congenital muscular dystrophy without intellectual disability 10.2 FKRP FKTN POMT1
7 muscular dystrophy-dystroglycanopathy , type c, 1 10.2 POMT1 POMT2
8 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 POMT1 POMT2
9 congenital nervous system abnormality 10.1 FKTN POMGNT1 POMT1
10 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 FKRP LAMA2 POMGNT2
11 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 DMD FKRP
12 congenital muscular dystrophy with intellectual disability 10.1 FKRP POMT1 POMT2
13 lissencephaly 10.1 DAG1 FKRP FKTN
14 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 CAV3 FKRP
15 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 DMD FKRP
16 autosomal dominant limb-girdle muscular dystrophy type 1a 10.1 CAV3 FKRP
17 ablepharon-macrostomia syndrome 10.1 FKRP FKTN POMGNT1 POMT1
18 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 FKRP FKTN POMT1 POMT2
19 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 FKRP FKTN POMT1 POMT2
20 muscular dystrophy, becker type 10.0 DMD FKTN LAMA2
21 congenital muscular dystrophy with cerebellar involvement 10.0 FKRP POMGNT1 POMT1 POMT2
22 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 CAV3 DMD
23 cardiomyopathy, dilated, 1d 10.0 DAG1 DMD LAMA2
24 myopathy, x-linked, with excessive autophagy 10.0 DMD LAMA2
25 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 DMD FKRP
26 creatine phosphokinase, elevated serum 10.0 CAV3 DMD LAMA2
27 miyoshi muscular dystrophy 9.9 CAV3 DMD LAMA2
28 cardiomyopathy, dilated, 1b 9.9 DAG1 DMD FKTN LAMA2
29 autosomal recessive limb-girdle muscular dystrophy 9.9 CAV3 DMD FKRP POMT1
30 autosomal dominant limb-girdle muscular dystrophy 9.9 CAV3 LMNA
31 autosomal dominant limb-girdle muscular dystrophy type 1b 9.9 CAV3 LMNA
32 isolated hyperckemia 9.9 CAV3 DMD FKRP LAMA2
33 muscular dystrophy, congenital, 1b 9.8 DAG1 DMD FKRP FKTN LAMA2
34 atrial standstill 1 9.8 DMD FKRP LMNA
35 muscular dystrophy-dystroglycanopathy 9.8 DAG1 FKRP POMGNT1 POMGNT2 POMT1 POMT2
36 neuromuscular disease 9.8 DMD LAMA2 LMNA
37 muscle eye brain disease 9.7 DAG1 FKRP FKTN POMGNT1 POMGNT2 POMT1
38 cardiomyopathy, dilated, 1a 9.7 DAG1 DMD LAMA2 LMNA
39 lipodystrophy, congenital generalized, type 4 9.7 CAV3 LMNA
40 dilated cardiomyopathy 9.5 DAG1 DMD FKRP FKTN LAMA2 LMNA
41 muscular dystrophy, congenital merosin-deficient, 1a 9.4 AGRN DAG1 DMD FKTN LAMA2 LMNA
42 muscular dystrophy-dystroglycanopathy , type a, 1 9.4 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
43 muscle tissue disease 9.4 CAV3 DAG1 DMD FKRP FKTN LAMA2
44 muscular dystrophy-dystroglycanopathy , type b, 6 9.2 AGRN DAG1 DMD FKRP FKTN LAMA2
45 walker-warburg syndrome 9.1 AGRN DAG1 DMD FKRP FKTN LAMA2
46 muscular disease 8.7 AGRN CAV3 DAG1 DMD FKRP FKTN

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 5

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis
lordosis
spinal fusion

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Head:
microcephaly (less common)

Head And Neck Face:
facial weakness

Muscle Soft Tissue:
neonatal hypotonia
generalized muscle weakness
myalgia
muscle cramps
difficulty walking
more
Neurologic Central Nervous System:
cerebellar atrophy
mental retardation
cerebellar cysts
pachygyria (rare)
some patients have neurologic involvement
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Feet:
achilles tendon contractures


Clinical features from OMIM:

606612

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 hyperlordosis 32 HP:0003307
5 facial palsy 32 HP:0010628
6 macroglossia 32 HP:0000158
7 microcephaly 32 HP:0000252
8 neonatal hypotonia 32 HP:0001319
9 feeding difficulties in infancy 32 HP:0008872
10 elevated serum creatine phosphokinase 32 HP:0003236
11 generalized muscle weakness 32 HP:0003324
12 achilles tendon contracture 32 HP:0001771
13 toe walking 32 HP:0040083
14 ventriculomegaly 32 occasional (7.5%) HP:0002119
15 myalgia 32 HP:0003326
16 muscle cramps 32 HP:0003394
17 difficulty walking 32 HP:0002355
18 proximal muscle weakness 32 HP:0003701
19 vertebral fusion 32 HP:0002948
20 pachygyria 32 occasional (7.5%) HP:0001302
21 cerebellar atrophy 32 HP:0001272
22 congenital muscular dystrophy 32 HP:0003741
23 frequent falls 32 HP:0002359
24 proximal amyotrophy 32 HP:0007126
25 difficulty climbing stairs 32 HP:0003551
26 delayed gross motor development 32 HP:0002194
27 calf muscle hypertrophy 32 HP:0008981
28 restrictive deficit on pulmonary function testing 32 HP:0002111
29 abnormality of the cerebral white matter 32 HP:0002500
30 shoulder girdle muscle weakness 32 HP:0003547
31 cerebellar cyst 32 HP:0002350
32 shoulder girdle muscle atrophy 32 HP:0003724
33 thigh hypertrophy 32 HP:0003733
34 emg 32 HP:0003458

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:


generalized muscle weakness, myalgia, facial paresis, muscle cramp

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 AGRN CANX DAG1 DMD FKRP FKTN
2 growth/size/body region MP:0005378 10.15 AGRN CANX DAG1 DMD FKRP FKTN
3 cellular MP:0005384 10.14 CAV3 DAG1 DMD FKRP FKTN GLG1
4 cardiovascular system MP:0005385 10.09 AGRN CAV3 DAG1 DMD FKRP GLG1
5 homeostasis/metabolism MP:0005376 10.06 AGRN CAV3 DAG1 DMD FKRP FKTN
6 mortality/aging MP:0010768 9.97 AGRN CANX DAG1 DMD FKRP FKTN
7 immune system MP:0005387 9.91 CANX CAV3 DMD FKRP FKTN GLG1
8 muscle MP:0005369 9.65 AGRN CAV3 DAG1 DMD FKRP FKTN
9 nervous system MP:0003631 9.4 AGRN CANX DAG1 DMD FKRP FKTN

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 29

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

41
Brain, Testes, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

75 (show all 13)
# Symbol AA change Variation ID SNP ID
1 FKRP p.Pro217Thr VAR_018283
2 FKRP p.Ser221Arg VAR_018284 rs28937902
3 FKRP p.Tyr309Cys VAR_018286 rs104894679
4 FKRP p.Pro315Thr VAR_018288
5 FKRP p.Pro316Arg VAR_018289 rs752582904
6 FKRP p.Tyr328Ser VAR_018290
7 FKRP p.Arg339His VAR_018292
8 FKRP p.Asp401Asn VAR_018293
9 FKRP p.Pro448Leu VAR_018294 rs104894681
10 FKRP p.Tyr465Ser VAR_018295 rs105752077
11 FKRP p.Val405Leu VAR_022854 rs28937904
12 FKRP p.Ala455Asp VAR_022855 rs28937903
13 FKRP p.Asn463Asp VAR_065063 rs121908110

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs104894679 GRCh37 Chromosome 19, 47259633: 47259633
2 FKRP NM_024301.4(FKRP): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs104894679 GRCh38 Chromosome 19, 46756376: 46756376
3 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh37 Chromosome 19, 47259861: 47259861
4 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh38 Chromosome 19, 46756604: 46756604
5 FKRP NM_024301.4(FKRP): c.1343C> T (p.Pro448Leu) single nucleotide variant Likely pathogenic rs104894681 GRCh37 Chromosome 19, 47260050: 47260050
6 FKRP NM_024301.4(FKRP): c.1343C> T (p.Pro448Leu) single nucleotide variant Likely pathogenic rs104894681 GRCh38 Chromosome 19, 46756793: 46756793
7 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
8 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
9 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh37 Chromosome 19, 47258942: 47258942
10 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh38 Chromosome 19, 46755685: 46755685
11 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
12 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
13 FKRP NM_024301.4(FKRP): c.585C> T (p.Asp195=) single nucleotide variant Benign rs75079578 GRCh37 Chromosome 19, 47259292: 47259292
14 FKRP NM_024301.4(FKRP): c.585C> T (p.Asp195=) single nucleotide variant Benign rs75079578 GRCh38 Chromosome 19, 46756035: 46756035
15 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh37 Chromosome 19, 47259648: 47259648
16 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh38 Chromosome 19, 46756391: 46756391
17 FKRP NM_024301.4(FKRP): c.192C> T (p.Pro64=) single nucleotide variant Benign rs111754012 GRCh37 Chromosome 19, 47258899: 47258899
18 FKRP NM_024301.4(FKRP): c.192C> T (p.Pro64=) single nucleotide variant Benign rs111754012 GRCh38 Chromosome 19, 46755642: 46755642
19 FKRP NM_024301.4(FKRP): c.162_165dupGGAG (p.Phe56Glyfs) duplication Pathogenic rs886042506 GRCh37 Chromosome 19, 47258869: 47258872
20 FKRP NM_024301.4(FKRP): c.162_165dupGGAG (p.Phe56Glyfs) duplication Pathogenic rs886042506 GRCh38 Chromosome 19, 46755612: 46755615
21 FKRP NM_001039885.2(FKRP): c.128C> G (p.Ser43Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 47258835: 47258835
22 FKRP NM_001039885.2(FKRP): c.128C> G (p.Ser43Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 46755578: 46755578
23 FKRP NM_024301.4(FKRP): c.968G> A (p.Arg323His) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 47259675: 47259675
24 FKRP NM_024301.4(FKRP): c.968G> A (p.Arg323His) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 46756418: 46756418

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 5.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to KEGG:

37
# Name Kegg Source Accession
1 Mannose type O-glycan biosynthesis hsa00515

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.93 AGRN CANX CAV3 DAG1 FKRP FKTN
2 endoplasmic reticulum GO:0005783 9.87 CANX CAV3 FKRP FKTN POMGNT2 POMT1
3 Golgi membrane GO:0000139 9.8 CAV3 FKRP GLG1 MGAT4C POMGNT1
4 Golgi apparatus GO:0005794 9.8 CAV3 DMD FKRP FKTN GLG1 MGAT4C
5 basement membrane GO:0005604 9.61 AGRN DAG1 LAMA2
6 costamere GO:0043034 9.46 DAG1 DMD
7 sarcolemma GO:0042383 9.35 CAV3 DAG1 DMD FKRP LAMA2
8 dystrophin-associated glycoprotein complex GO:0016010 8.92 CAV3 DAG1 DMD FKRP
9 membrane GO:0016020 10.18 AGRN CANX CAV3 DAG1 DMD FKRP

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.72 CANX DAG1 DMD
2 extracellular matrix organization GO:0030198 9.71 AGRN DAG1 LAMA2 POMT1
3 regulation of heart rate GO:0002027 9.56 CAV3 DMD
4 muscle organ development GO:0007517 9.56 CAV3 DMD FKTN LAMA2
5 protein O-linked glycosylation GO:0006493 9.55 FKTN POMGNT1 POMGNT2 POMT1 POMT2
6 negative regulation of MAPK cascade GO:0043409 9.54 CAV3 DAG1
7 skeletal muscle tissue regeneration GO:0043403 9.52 DAG1 DMD
8 muscle cell cellular homeostasis GO:0046716 9.51 CAV3 DMD
9 protein glycosylation GO:0006486 9.5 FKRP FKTN MGAT4C POMGNT1 POMGNT2 POMT1
10 mannosylation GO:0097502 9.49 POMT1 POMT2
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 DAG1 DMD
12 Schwann cell differentiation GO:0014037 9.46 DAG1 LAMA2
13 nucleus localization GO:0051647 9.43 CAV3 DMD
14 regulation of skeletal muscle contraction GO:0014819 9.37 CAV3 DMD
15 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT1 POMT2
16 protein O-linked mannosylation GO:0035269 9.02 FKRP FKTN POMGNT2 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.87 FKRP FKTN MGAT4C POMGNT1 POMGNT2 POMT1
2 acetylglucosaminyltransferase activity GO:0008375 9.43 POMGNT1 POMGNT2
3 laminin binding GO:0043236 9.4 AGRN DAG1
4 nitric-oxide synthase binding GO:0050998 9.37 CAV3 DMD
5 transferase activity, transferring glycosyl groups GO:0016757 9.35 MGAT4C POMGNT1 POMGNT2 POMT1 POMT2
6 vinculin binding GO:0017166 9.26 DAG1 DMD
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2
8 dystroglycan binding GO:0002162 8.92 AGRN DAG1 DMD FKRP

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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