MCID: MSC042
MIFTS: 49

Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 6 57 12 13
Congenital Muscular Dystrophy Type 1d 12 75 37
Mddgb6 57 12 75
Mdc1d 57 12 75
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B6 29 6
Muscular Dystrophy-Dystroglycanopathy Type B6 12 15
Muscular Dystrophy, Congenital, Type 1d 57 73
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 75
Dystrophy, Muscular, Dystroglycanopathy , Type B6 40
Muscular Dystrophy, Congenital, Type 1d; Mdc1d 57
Muscular Dystrophy, Congenital, Large-Related 57
Congenital Muscular Dystrophy Large-Related 12
Muscular Dystrophy Large-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset within first 6 months of life
three unrelated families have been reported (as of june 2011)


HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 6:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

OMIM : 57 MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). 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., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (608840)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 6, also known as congenital muscular dystrophy type 1d, is related to muscular dystrophy, congenital, lmna-related and muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Metabolism. Affiliated tissues include brain, skeletal muscle and tongue, and related phenotypes are macroglossia and decreased light- and dark-adapted electroretinogram amplitude

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6: A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha- dystroglycan.

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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 B, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 29.0 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
2 muscular dystrophy 25.7 AGRN DAG1 DMD FKRP FKTN GNE
3 muscular dystrophy-dystroglycanopathy , type c, 1 10.6 POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type c, 2 10.5 POMT1 POMT2
5 congenital muscular dystrophy without intellectual disability 10.4 FKRP FKTN POMT1
6 congenital nervous system abnormality 10.4 FKTN POMGNT1 POMT1
7 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 DMD FKRP
8 muscular dystrophy-dystroglycanopathy , type c, 4 10.3 FKRP FKTN POMT2
9 lissencephaly 10.3 DAG1 FKRP FKTN
10 muscular dystrophy, limb-girdle, type 2c 10.2 DAG1 DMD
11 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 FKRP LAMA2
12 congenital muscular dystrophy with intellectual disability 10.2 FKRP LARGE1 POMT1 POMT2
13 muscular dystrophy, limb-girdle, type 2f 10.1 DMD FKRP
14 congenital muscular dystrophy with cerebellar involvement 10.1 FKRP POMGNT1 POMT1 POMT2
15 autosomal recessive limb-girdle muscular dystrophy 10.1 DMD FKRP POMT1
16 muscular dystrophy-dystroglycanopathy 10.1 FKRP POMGNT1 POMT1 POMT2
17 muscular dystrophy, limb-girdle, type 2l 10.0 FKRP FKTN POMT1 POMT2
18 muscular dystrophy, limb-girdle, type 2b 10.0 DMD FKRP
19 creatine phosphokinase, elevated serum 10.0 DMD LAMA2
20 isolated hyperckemia 9.9 DMD FKRP LAMA2
21 ablepharon-macrostomia syndrome 9.9 FKRP FKTN LARGE1 POMGNT1 POMT1
22 cardiomyopathy, dilated, 1d 9.8 DAG1 DMD LAMA2
23 cardiomyopathy, dilated, 1a 9.8 DAG1 DMD LAMA2
24 muscular dystrophy-dystroglycanopathy , type a, 1 9.8 FKRP FKTN LARGE1 POMT1 POMT2
25 muscular dystrophy, becker type 9.8 DMD FKTN LAMA2
26 gas gangrene 9.8 DMD HSPG2
27 distal muscular dystrophy 9.8 DMD GNE
28 myopathy, x-linked, with excessive autophagy 9.7 DMD GNE LAMA2
29 neuromuscular disease 9.7 DMD GNE LAMA2
30 cardiomyopathy, dilated, 1b 9.5 DAG1 DMD FKTN LAMA2
31 limb-girdle muscular dystrophy 9.5 DMD FKRP FKTN POMGNT1 POMT1
32 cenani-lenz syndactyly syndrome 9.4 AGRN HSPG2
33 muscular dystrophy, congenital, 1b 9.3 DAG1 DMD FKRP FKTN LAMA2
34 dilated cardiomyopathy 9.1 DAG1 DMD FKRP FKTN LAMA2
35 muscular dystrophy, congenital merosin-deficient, 1a 9.1 AGRN DAG1 DMD FKTN LAMA2
36 myopathy 9.0 DAG1 DMD FKRP GNE LAMA2
37 muscle tissue disease 8.8 DAG1 DMD FKRP FKTN GNE LAMA2
38 muscular dystrophy-dystroglycanopathy , type a, 4 8.0 DAG1 DMD FKRP FKTN LAMA2 LARGE1
39 muscle eye brain disease 8.0 DAG1 DMD FKRP FKTN LAMA2 LARGE1
40 muscular dystrophy-dystroglycanopathy , type b, 5 7.4 AGRN DAG1 DMD FKRP FKTN LAMA2
41 walker-warburg syndrome 7.1 AGRN DAG1 DMD FKRP FKTN LAMA2

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 6

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Muscle Soft Tissue:
hypotonia
delayed motor development
emg shows myopathic changes
muscle hypertrophy
lower limbs more affected than upper limbs
more
Head And Neck Eyes:
nystagmus, horizontal
decreased electroretinogram (erg) response

Skeletal Hands:
flexed fingers

Skeletal Limbs:
elbow contractures, mild
achilles tendon contractures, mild

Neurologic Central Nervous System:
cerebellar hypoplasia
hypoplastic brainstem
periventricular white matter changes
abnormal neuronal migration
developmental delay, global
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
facial weakness, mild

Head And Neck Mouth:
tongue hypertrophy


Clinical features from OMIM:

608840

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
3 horizontal nystagmus 32 HP:0000666
4 muscular hypotonia 32 HP:0001252
5 global developmental delay 32 HP:0001263
6 motor delay 32 HP:0001270
7 generalized hypotonia 32 HP:0001290
8 pachygyria 32 HP:0001302
9 cerebellar hypoplasia 32 HP:0001321
10 achilles tendon contracture 32 HP:0001771
11 intellectual disability, profound 32 HP:0002187
12 abnormality of neuronal migration 32 HP:0002269
13 hypoplasia of the brainstem 32 HP:0002365
14 lower limb hyperreflexia 32 HP:0002395
15 abnormality of the periventricular white matter 32 HP:0002518
16 elbow flexion contracture 32 HP:0002987
17 elevated serum creatine phosphokinase 32 HP:0003236
18 emg 32 HP:0003458
19 babinski sign 32 HP:0003487
20 muscular dystrophy 32 HP:0003560
21 proximal muscle weakness 32 HP:0003701
22 congenital muscular dystrophy 32 HP:0003741
23 short stature 32 HP:0004322
24 joint contracture of the hand 32 HP:0009473
25 facial palsy 32 HP:0010628

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 FKTN GNE HSPG2 LAMA2 LARGE1 POMGNT1
2 growth/size/body region MP:0005378 10.06 AGRN DAG1 DMD FKRP FKTN GNE
3 cardiovascular system MP:0005385 10.02 AGRN DAG1 DMD FKRP GNE HSPG2
4 homeostasis/metabolism MP:0005376 9.96 FKRP FKTN GNE HSPG2 LAMA2 LARGE1
5 mortality/aging MP:0010768 9.93 AGRN DAG1 DMD FKRP FKTN GNE
6 muscle MP:0005369 9.7 POMT1 AGRN DAG1 DMD FKRP FKTN
7 nervous system MP:0003631 9.32 AGRN DAG1 DMD FKRP FKTN HSPG2

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B6 29 LARGE1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

41
Brain, Skeletal Muscle, Tongue

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

# Title Authors Year
1
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. ( 21248746 )
2011

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

75
# Symbol AA change Variation ID SNP ID
1 LARGE1 p.Glu509Lys VAR_019811 rs121908675

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

6
(show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 LARGE1 NM_004737.5(LARGE1): c.1525G> A (p.Glu509Lys) single nucleotide variant Pathogenic rs121908675 GRCh37 Chromosome 22, 33700420: 33700420
2 LARGE1 NM_004737.5(LARGE1): c.1525G> A (p.Glu509Lys) single nucleotide variant Pathogenic rs121908675 GRCh38 Chromosome 22, 33304434: 33304434
3 LARGE1 LARGE1, 1-BP INS, 1999T insertion Pathogenic
4 LARGE1 LARGE1, 667FS undetermined variant Pathogenic
5 LARGE1 LARGE1, 42.9-KB INS/4.1-KB DEL indel Pathogenic
6 LARGE1 NM_004737.4(LARGE1): c.1008T> C (p.Asp336=) single nucleotide variant Benign/Likely benign rs115076367 GRCh37 Chromosome 22, 33778028: 33778028
7 LARGE1 NM_004737.4(LARGE1): c.1008T> C (p.Asp336=) single nucleotide variant Benign/Likely benign rs115076367 GRCh38 Chromosome 22, 33382042: 33382042
8 LARGE1 NM_004737.4(LARGE1): c.552G> A (p.Thr184=) single nucleotide variant Conflicting interpretations of pathogenicity rs8142483 GRCh37 Chromosome 22, 34000484: 34000484
9 LARGE1 NM_004737.4(LARGE1): c.552G> A (p.Thr184=) single nucleotide variant Conflicting interpretations of pathogenicity rs8142483 GRCh38 Chromosome 22, 33604498: 33604498
10 LARGE1 NM_004737.4(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh37 Chromosome 22, 34046550: 34046550
11 LARGE1 NM_004737.4(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh38 Chromosome 22, 33650564: 33650564
12 LARGE1 NM_004737.4(LARGE1): c.165G> C (p.Thr55=) single nucleotide variant Benign/Likely benign rs63446460 GRCh37 Chromosome 22, 34046596: 34046596
13 LARGE1 NM_004737.4(LARGE1): c.165G> C (p.Thr55=) single nucleotide variant Benign/Likely benign rs63446460 GRCh38 Chromosome 22, 33650610: 33650610
14 LARGE1 NM_004737.5(LARGE1): c.334G> A (p.Glu112Lys) single nucleotide variant Uncertain significance rs146078928 GRCh37 Chromosome 22, 34046427: 34046427
15 LARGE1 NM_004737.5(LARGE1): c.334G> A (p.Glu112Lys) single nucleotide variant Uncertain significance rs146078928 GRCh38 Chromosome 22, 33650441: 33650441
16 LARGE1 NM_004737.4(LARGE1): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs74550830 GRCh37 Chromosome 22, 33679277: 33679277
17 LARGE1 NM_004737.4(LARGE1): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs74550830 GRCh38 Chromosome 22, 33283291: 33283291
18 LARGE1 NM_004737.5(LARGE1): c.210C> T (p.Arg70=) single nucleotide variant Conflicting interpretations of pathogenicity rs145048151 GRCh37 Chromosome 22, 34046551: 34046551
19 LARGE1 NM_004737.5(LARGE1): c.210C> T (p.Arg70=) single nucleotide variant Conflicting interpretations of pathogenicity rs145048151 GRCh38 Chromosome 22, 33650565: 33650565
20 LARGE1 NM_004737.4(LARGE1): c.1976C> T (p.Pro659Leu) single nucleotide variant Uncertain significance rs778669044 GRCh37 Chromosome 22, 33673143: 33673143
21 LARGE1 NM_004737.4(LARGE1): c.1976C> T (p.Pro659Leu) single nucleotide variant Uncertain significance rs778669044 GRCh38 Chromosome 22, 33277157: 33277157
22 LARGE1 NM_004737.4(LARGE1): c.1962G> A (p.Glu654=) single nucleotide variant Conflicting interpretations of pathogenicity rs141089495 GRCh37 Chromosome 22, 33673157: 33673157
23 LARGE1 NM_004737.4(LARGE1): c.1962G> A (p.Glu654=) single nucleotide variant Conflicting interpretations of pathogenicity rs141089495 GRCh38 Chromosome 22, 33277171: 33277171
24 LARGE1 NM_004737.4(LARGE1): c.408+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141818070 GRCh37 Chromosome 22, 34046345: 34046345
25 LARGE1 NM_004737.4(LARGE1): c.408+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141818070 GRCh38 Chromosome 22, 33650359: 33650359
26 LARGE1 NM_004737.4(LARGE1): c.391G> A (p.Val131Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs56239539 GRCh37 Chromosome 22, 34046370: 34046370
27 LARGE1 NM_004737.4(LARGE1): c.391G> A (p.Val131Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs56239539 GRCh38 Chromosome 22, 33650384: 33650384
28 LARGE1 NM_004737.4(LARGE1): c.1611G> A (p.Glu537=) single nucleotide variant Conflicting interpretations of pathogenicity rs372629986 GRCh38 Chromosome 22, 33304348: 33304348
29 LARGE1 NM_004737.4(LARGE1): c.1611G> A (p.Glu537=) single nucleotide variant Conflicting interpretations of pathogenicity rs372629986 GRCh37 Chromosome 22, 33700334: 33700334
30 LARGE1 NM_004737.5(LARGE1): c.1776G> T (p.Met592Ile) single nucleotide variant Benign/Likely benign rs576967464 GRCh37 Chromosome 22, 33679289: 33679289
31 LARGE1 NM_004737.5(LARGE1): c.1776G> T (p.Met592Ile) single nucleotide variant Benign/Likely benign rs576967464 GRCh38 Chromosome 22, 33283303: 33283303
32 LARGE1 NM_004737.4(LARGE1): c.1092C> T (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs144216539 GRCh37 Chromosome 22, 33777944: 33777944
33 LARGE1 NM_004737.4(LARGE1): c.1092C> T (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs144216539 GRCh38 Chromosome 22, 33381958: 33381958
34 LARGE1 NM_004737.4(LARGE1): c.163A> G (p.Thr55Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs34642406 GRCh38 Chromosome 22, 33650612: 33650612
35 LARGE1 NM_004737.4(LARGE1): c.163A> G (p.Thr55Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs34642406 GRCh37 Chromosome 22, 34046598: 34046598
36 LARGE1 NM_004737.4(LARGE1): c.492-8C> T single nucleotide variant Likely benign rs764180554 GRCh37 Chromosome 22, 34000552: 34000552
37 LARGE1 NM_004737.4(LARGE1): c.492-8C> T single nucleotide variant Likely benign rs764180554 GRCh38 Chromosome 22, 33604566: 33604566
38 LARGE1 NM_004737.4(LARGE1): c.2004G> A (p.Pro668=) single nucleotide variant Likely benign rs368231947 GRCh37 Chromosome 22, 33673115: 33673115
39 LARGE1 NM_004737.4(LARGE1): c.2004G> A (p.Pro668=) single nucleotide variant Likely benign rs368231947 GRCh38 Chromosome 22, 33277129: 33277129
40 LARGE1 NM_004737.5(LARGE1): c.298A> G (p.Lys100Glu) single nucleotide variant Uncertain significance rs985654114 GRCh37 Chromosome 22, 34046463: 34046463
41 LARGE1 NM_004737.5(LARGE1): c.298A> G (p.Lys100Glu) single nucleotide variant Uncertain significance rs985654114 GRCh38 Chromosome 22, 33650477: 33650477
42 LARGE1 NM_004737.5(LARGE1): c.2087T> C (p.Ile696Thr) single nucleotide variant Uncertain significance rs200212868 GRCh38 Chromosome 22, 33274611: 33274611
43 LARGE1 NM_004737.5(LARGE1): c.2087T> C (p.Ile696Thr) single nucleotide variant Uncertain significance rs200212868 GRCh37 Chromosome 22, 33670597: 33670597
44 LARGE1 NM_004737.5(LARGE1): c.1348C> T (p.Arg450Cys) single nucleotide variant Uncertain significance rs754744384 GRCh37 Chromosome 22, 33712174: 33712174
45 LARGE1 NM_004737.5(LARGE1): c.1348C> T (p.Arg450Cys) single nucleotide variant Uncertain significance rs754744384 GRCh38 Chromosome 22, 33316188: 33316188
46 LARGE1 NM_004737.5(LARGE1): c.73A> G (p.Thr25Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 33761404: 33761404
47 LARGE1 NM_004737.5(LARGE1): c.73A> G (p.Thr25Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 34157391: 34157391
48 LARGE1 NM_004737.5(LARGE1): c.1839G> T (p.Leu613Phe) single nucleotide variant Uncertain significance rs745392097 GRCh38 Chromosome 22, 33283240: 33283240
49 LARGE1 NM_004737.5(LARGE1): c.1839G> T (p.Leu613Phe) single nucleotide variant Uncertain significance rs745392097 GRCh37 Chromosome 22, 33679226: 33679226
50 LARGE1 NM_004737.5(LARGE1): c.904T> C (p.Leu302=) single nucleotide variant Likely benign rs755445182 GRCh38 Chromosome 22, 33384293: 33384293

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 6.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to KEGG:

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

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 AGRN FKRP FKTN GNE HSPG2 LARGE1
2
Show member pathways
13.48 DAG1 GNE HSPG2 LARGE1 LARGE2 MGAT4C
3
Show member pathways
12.48 AGRN DAG1 DMD HSPG2 LAMA2
4
Show member pathways
12 DAG1 LARGE1 LARGE2 POMGNT1 POMT1 POMT2
5
Show member pathways
11.95 DAG1 DMD LAMA2
6
Show member pathways
11.86 AGRN DAG1 HSPG2
7
Show member pathways
11.82 AGRN DAG1 HSPG2
8
Show member pathways
11.8 AGRN DAG1 HSPG2 LAMA2
9 11.41 AGRN DAG1 LAMA2
10 11.38 AGRN DAG1 LAMA2
11
Show member pathways
11.38 AGRN DAG1 DMD HSPG2 LAMA2
12 10.85 POMT1 POMT2
13 10.63 AGRN DAG1 DMD HSPG2 LAMA2
14 10.53 FKRP FKTN LARGE1 LARGE2 POMGNT1 POMT1

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.73 FKRP FKTN LARGE1 LARGE2 MGAT4C POMGNT1
2 extracellular matrix GO:0031012 9.62 AGRN DAG1 HSPG2 LAMA2
3 Golgi lumen GO:0005796 9.58 AGRN DAG1 HSPG2
4 Golgi apparatus GO:0005794 9.56 DMD FKRP FKTN GOLPH3 LARGE1 LARGE2
5 basement membrane GO:0005604 9.54 DAG1 HSPG2 LAMA2
6 costamere GO:0043034 9.46 DAG1 DMD
7 sarcolemma GO:0042383 9.46 DAG1 DMD FKRP LAMA2
8 basal lamina GO:0005605 9.43 AGRN LAMA2
9 dystrophin-associated glycoprotein complex GO:0016010 8.8 DAG1 DMD FKRP
10 membrane GO:0016020 10.26 AGRN DAG1 DMD FKRP FKTN GOLPH3

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.72 AGRN DAG1 HSPG2 LAMA2 POMT1
2 muscle organ development GO:0007517 9.69 DMD FKTN LAMA2
3 protein O-linked glycosylation GO:0006493 9.63 DAG1 LARGE1 LARGE2 POMGNT1 POMT1 POMT2
4 skeletal muscle tissue regeneration GO:0043403 9.58 DAG1 DMD LARGE1
5 protein glycosylation GO:0006486 9.56 FKRP FKTN LARGE1 LARGE2 MGAT4C POMGNT1
6 glycosaminoglycan metabolic process GO:0030203 9.55 AGRN HSPG2
7 glycosaminoglycan catabolic process GO:0006027 9.54 AGRN HSPG2
8 muscle cell cellular homeostasis GO:0046716 9.54 DMD LARGE1 LARGE2
9 mannosylation GO:0097502 9.52 POMT1 POMT2
10 ER-associated misfolded protein catabolic process GO:0071712 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 positive regulation of protein O-linked glycosylation GO:1904100 9.43 POMT1 POMT2
14 glycoprotein biosynthetic process GO:0009101 9.43 FKRP GOLPH3 LARGE1
15 protein O-linked mannosylation GO:0035269 9.1 FKRP FKTN LARGE1 LARGE2 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.81 FKRP FKTN GNE LARGE1 LARGE2 MGAT4C
2 acetylglucosaminyltransferase activity GO:0008375 9.49 LARGE1 POMGNT1
3 glucuronosyltransferase activity GO:0015020 9.48 LARGE1 LARGE2
4 laminin binding GO:0043236 9.46 AGRN DAG1
5 mannosyltransferase activity GO:0000030 9.43 POMT1 POMT2
6 vinculin binding GO:0017166 9.4 DAG1 DMD
7 UDP-xylosyltransferase activity GO:0035252 9.37 LARGE1 LARGE2
8 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT1 POMT2
9 xylosyltransferase activity GO:0042285 9.26 LARGE1 LARGE2
10 dystroglycan binding GO:0002162 9.13 AGRN DAG1 DMD
11 transferase activity, transferring glycosyl groups GO:0016757 9.1 LARGE1 LARGE2 MGAT4C POMGNT1 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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
55 Novoseek
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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