MDDGB6
MCID: MSC042
MIFTS: 50

Muscular Dystrophy-Dystroglycanopathy , Type B, 6 (MDDGB6)

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, 6

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 6 57 12 75 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 eye, and related phenotypes are muscular hypotonia and facial palsy

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.

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.

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 29.1 DAG1 DMD FKRP FKTN LAMA2 MGAT4C
2 muscular dystrophy 28.7 AGRN DAG1 DMD FKRP FKTN GNE
3 muscular dystrophy-dystroglycanopathy , type c, 1 10.2 POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 POMT1 POMT2
5 congenital muscular dystrophy without intellectual disability 10.1 FKRP FKTN POMT1
6 congenital nervous system abnormality 10.1 FKTN POMGNT1 POMT1
7 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 DMD FKRP
8 lissencephaly 10.1 DAG1 FKRP FKTN
9 autosomal recessive limb-girdle muscular dystrophy 10.0 DMD FKRP POMT1
10 congenital muscular dystrophy with intellectual disability 10.0 FKRP LARGE1 POMT1 POMT2
11 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 DMD FKRP
12 congenital muscular dystrophy with cerebellar involvement 10.0 FKRP POMGNT1 POMT1 POMT2
13 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 FKRP LAMA2
14 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 FKRP FKTN POMT1 POMT2
15 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 FKRP FKTN POMT1 POMT2
16 creatine phosphokinase, elevated serum 10.0 DMD LAMA2
17 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 DMD FKRP
18 ablepharon-macrostomia syndrome 10.0 FKRP FKTN LARGE1 POMGNT1 POMT1
19 isolated hyperckemia 10.0 DMD FKRP LAMA2
20 muscular dystrophy-dystroglycanopathy 9.9 DAG1 FKRP POMGNT1 POMT1 POMT2
21 cardiomyopathy, dilated, 1d 9.9 DAG1 DMD LAMA2
22 muscular dystrophy, becker type 9.9 DMD FKTN LAMA2
23 cardiomyopathy, dilated, 1a 9.9 DAG1 DMD LAMA2
24 myopathy, x-linked, with excessive autophagy 9.9 DMD GNE LAMA2
25 miyoshi muscular dystrophy 9.9 DMD GNE LAMA2
26 gas gangrene 9.9 DMD HSPG2
27 neuromuscular disease 9.9 DMD GNE LAMA2
28 cardiomyopathy, dilated, 1b 9.8 DAG1 DMD FKTN LAMA2
29 cenani-lenz syndactyly syndrome 9.8 AGRN HSPG2
30 muscular dystrophy, congenital, 1b 9.8 DAG1 DMD FKRP FKTN LAMA2
31 muscle eye brain disease 9.7 DAG1 FKRP FKTN LARGE1 POMGNT1 POMT1
32 dilated cardiomyopathy 9.7 DAG1 DMD FKRP FKTN LAMA2
33 muscular dystrophy, congenital merosin-deficient, 1a 9.7 AGRN DAG1 DMD FKTN LAMA2
34 limb-girdle muscular dystrophy 9.7 DMD FKRP FKTN LAMA2 POMGNT1 POMT1
35 muscle tissue disease 9.6 DAG1 DMD FKRP FKTN GNE LAMA2
36 muscular dystrophy-dystroglycanopathy , type a, 1 9.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
37 muscular dystrophy-dystroglycanopathy , type a, 4 9.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
38 muscular dystrophy-dystroglycanopathy , type b, 5 9.2 AGRN DAG1 DMD FKRP FKTN LAMA2
39 walker-warburg syndrome 9.1 AGRN DAG1 DMD FKRP FKTN LAMA2
40 muscular disease 8.8 AGRN DAG1 DMD FKRP FKTN GNE

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

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 10.17 AGRN DAG1 DMD FKRP FKTN GNE
2 growth/size/body region MP:0005378 10.11 AGRN DAG1 DMD FKRP FKTN GNE
3 cardiovascular system MP:0005385 10.06 AGRN DAG1 DMD FKRP GNE HSPG2
4 mortality/aging MP:0010768 10.03 AGRN DAG1 DMD FKRP FKTN GNE
5 homeostasis/metabolism MP:0005376 10.02 AGRN DAG1 DMD FKRP FKTN GNE
6 muscle MP:0005369 9.9 AGRN DAG1 DMD FKRP FKTN GNE
7 nervous system MP:0003631 9.7 AGRN DAG1 DMD FKRP FKTN HSPG2
8 vision/eye MP:0005391 9.17 DAG1 DMD FKRP HSPG2 LARGE1 POMGNT1

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, Eye, 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 142)
# 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.1420G> A (p.Val474Ile) single nucleotide variant Uncertain significance rs150861748 GRCh37 Chromosome 22, 33712102: 33712102
7 LARGE1 NM_004737.4(LARGE1): c.1420G> A (p.Val474Ile) single nucleotide variant Uncertain significance rs150861748 GRCh38 Chromosome 22, 33316116: 33316116
8 LARGE1 NM_004737.4(LARGE1): c.1548C> T (p.Tyr516=) single nucleotide variant Benign/Likely benign rs34292743 GRCh37 Chromosome 22, 33700397: 33700397
9 LARGE1 NM_004737.4(LARGE1): c.1548C> T (p.Tyr516=) single nucleotide variant Benign/Likely benign rs34292743 GRCh38 Chromosome 22, 33304411: 33304411
10 LARGE1 NM_004737.4(LARGE1): c.1644C> T (p.Asn548=) single nucleotide variant Benign/Likely benign rs113253213 GRCh37 Chromosome 22, 33700301: 33700301
11 LARGE1 NM_004737.4(LARGE1): c.1644C> T (p.Asn548=) single nucleotide variant Benign/Likely benign rs113253213 GRCh38 Chromosome 22, 33304315: 33304315
12 LARGE1 NM_004737.5(LARGE1): c.1827A> G (p.Ser609=) single nucleotide variant Benign/Likely benign rs11913417 GRCh37 Chromosome 22, 33679238: 33679238
13 LARGE1 NM_004737.5(LARGE1): c.1827A> G (p.Ser609=) single nucleotide variant Benign/Likely benign rs11913417 GRCh38 Chromosome 22, 33283252: 33283252
14 LARGE1 NM_004737.4(LARGE1): c.1949G> A (p.Arg650Gln) single nucleotide variant Benign/Likely benign rs73399520 GRCh37 Chromosome 22, 33673170: 33673170
15 LARGE1 NM_004737.4(LARGE1): c.1949G> A (p.Arg650Gln) single nucleotide variant Benign/Likely benign rs73399520 GRCh38 Chromosome 22, 33277184: 33277184
16 LARGE1 NM_004737.4(LARGE1): c.1994G> A (p.Arg665His) single nucleotide variant Conflicting interpretations of pathogenicity rs1046166 GRCh37 Chromosome 22, 33673125: 33673125
17 LARGE1 NM_004737.4(LARGE1): c.1994G> A (p.Arg665His) single nucleotide variant Conflicting interpretations of pathogenicity rs1046166 GRCh38 Chromosome 22, 33277139: 33277139
18 LARGE1 NM_004737.5(LARGE1): c.2100C> T (p.Asn700=) single nucleotide variant Benign/Likely benign rs17722172 GRCh37 Chromosome 22, 33670584: 33670584
19 LARGE1 NM_004737.5(LARGE1): c.2100C> T (p.Asn700=) single nucleotide variant Benign/Likely benign rs17722172 GRCh38 Chromosome 22, 33274598: 33274598
20 LARGE1 NM_004737.4(LARGE1): c.251G> C (p.Ser84Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs398124184 GRCh37 Chromosome 22, 34046510: 34046510
21 LARGE1 NM_004737.4(LARGE1): c.251G> C (p.Ser84Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs398124184 GRCh38 Chromosome 22, 33650524: 33650524
22 LARGE1 NM_004737.4(LARGE1): c.309C> T (p.Ser103=) single nucleotide variant Benign/Likely benign rs59349720 GRCh37 Chromosome 22, 34046452: 34046452
23 LARGE1 NM_004737.4(LARGE1): c.309C> T (p.Ser103=) single nucleotide variant Benign/Likely benign rs59349720 GRCh38 Chromosome 22, 33650466: 33650466
24 LARGE1 NM_004737.5(LARGE1): c.576C> T (p.Pro192=) single nucleotide variant Benign/Likely benign rs36002910 GRCh37 Chromosome 22, 34000460: 34000460
25 LARGE1 NM_004737.5(LARGE1): c.576C> T (p.Pro192=) single nucleotide variant Benign/Likely benign rs36002910 GRCh38 Chromosome 22, 33604474: 33604474
26 LARGE1 NM_004737.4(LARGE1): c.1008T> C (p.Asp336=) single nucleotide variant Benign/Likely benign rs115076367 GRCh37 Chromosome 22, 33778028: 33778028
27 LARGE1 NM_004737.4(LARGE1): c.1008T> C (p.Asp336=) single nucleotide variant Benign/Likely benign rs115076367 GRCh38 Chromosome 22, 33382042: 33382042
28 LARGE1 NM_004737.4(LARGE1): c.552G> A (p.Thr184=) single nucleotide variant Conflicting interpretations of pathogenicity rs8142483 GRCh37 Chromosome 22, 34000484: 34000484
29 LARGE1 NM_004737.4(LARGE1): c.552G> A (p.Thr184=) single nucleotide variant Conflicting interpretations of pathogenicity rs8142483 GRCh38 Chromosome 22, 33604498: 33604498
30 LARGE1 NM_004737.4(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh37 Chromosome 22, 34046550: 34046550
31 LARGE1 NM_004737.4(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh38 Chromosome 22, 33650564: 33650564
32 LARGE1 NM_004737.4(LARGE1): c.165G> C (p.Thr55=) single nucleotide variant Benign/Likely benign rs63446460 GRCh37 Chromosome 22, 34046596: 34046596
33 LARGE1 NM_004737.4(LARGE1): c.165G> C (p.Thr55=) single nucleotide variant Benign/Likely benign rs63446460 GRCh38 Chromosome 22, 33650610: 33650610
34 LARGE1 NM_004737.4(LARGE1): c.334G> A (p.Glu112Lys) single nucleotide variant Uncertain significance rs146078928 GRCh37 Chromosome 22, 34046427: 34046427
35 LARGE1 NM_004737.4(LARGE1): c.334G> A (p.Glu112Lys) single nucleotide variant Uncertain significance rs146078928 GRCh38 Chromosome 22, 33650441: 33650441
36 LARGE1 NM_004737.4(LARGE1): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs74550830 GRCh37 Chromosome 22, 33679277: 33679277
37 LARGE1 NM_004737.4(LARGE1): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs74550830 GRCh38 Chromosome 22, 33283291: 33283291
38 LARGE1 NM_004737.5(LARGE1): c.210C> T (p.Arg70=) single nucleotide variant Conflicting interpretations of pathogenicity rs145048151 GRCh37 Chromosome 22, 34046551: 34046551
39 LARGE1 NM_004737.5(LARGE1): c.210C> T (p.Arg70=) single nucleotide variant Conflicting interpretations of pathogenicity rs145048151 GRCh38 Chromosome 22, 33650565: 33650565
40 LARGE1 NM_004737.4(LARGE1): c.1976C> T (p.Pro659Leu) single nucleotide variant Uncertain significance rs778669044 GRCh37 Chromosome 22, 33673143: 33673143
41 LARGE1 NM_004737.4(LARGE1): c.1976C> T (p.Pro659Leu) single nucleotide variant Uncertain significance rs778669044 GRCh38 Chromosome 22, 33277157: 33277157
42 LARGE1 NM_004737.4(LARGE1): c.1962G> A (p.Glu654=) single nucleotide variant Conflicting interpretations of pathogenicity rs141089495 GRCh37 Chromosome 22, 33673157: 33673157
43 LARGE1 NM_004737.4(LARGE1): c.1962G> A (p.Glu654=) single nucleotide variant Conflicting interpretations of pathogenicity rs141089495 GRCh38 Chromosome 22, 33277171: 33277171
44 LARGE1 NM_004737.4(LARGE1): c.408+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141818070 GRCh37 Chromosome 22, 34046345: 34046345
45 LARGE1 NM_004737.4(LARGE1): c.408+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141818070 GRCh38 Chromosome 22, 33650359: 33650359
46 LARGE1 NM_004737.4(LARGE1): c.391G> A (p.Val131Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs56239539 GRCh37 Chromosome 22, 34046370: 34046370
47 LARGE1 NM_004737.4(LARGE1): c.391G> A (p.Val131Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs56239539 GRCh38 Chromosome 22, 33650384: 33650384
48 LARGE1 NM_004737.4(LARGE1): c.1611G> A (p.Glu537=) single nucleotide variant Conflicting interpretations of pathogenicity rs372629986 GRCh38 Chromosome 22, 33304348: 33304348
49 LARGE1 NM_004737.4(LARGE1): c.1611G> A (p.Glu537=) single nucleotide variant Conflicting interpretations of pathogenicity rs372629986 GRCh37 Chromosome 22, 33700334: 33700334
50 LARGE1 NM_004737.5(LARGE1): c.1776G> T (p.Met592Ile) single nucleotide variant Benign/Likely benign rs576967464 GRCh37 Chromosome 22, 33679289: 33679289

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 11.39 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 9.77 FKRP LARGE1 LARGE2 MGAT4C POMGNT1
2 collagen-containing extracellular matrix GO:0062023 9.71 AGRN DAG1 HSPG2 LAMA2
3 Golgi lumen GO:0005796 9.61 AGRN DAG1 HSPG2
4 sarcolemma GO:0042383 9.56 DAG1 DMD FKRP LAMA2
5 Golgi apparatus GO:0005794 9.56 DMD FKRP FKTN GOLPH3 LARGE1 LARGE2
6 integral component of Golgi membrane GO:0030173 9.5 FKTN LARGE1 POMGNT1
7 costamere GO:0043034 9.46 DAG1 DMD
8 basement membrane GO:0005604 9.46 AGRN DAG1 HSPG2 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 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.72 AGRN DAG1 HSPG2 LAMA2 POMT1
2 metabolic process GO:0008152 9.71 GNE LARGE1 LARGE2
3 muscle organ development GO:0007517 9.67 DMD FKTN LAMA2
4 protein O-linked glycosylation GO:0006493 9.63 FKTN LARGE1 LARGE2 POMGNT1 POMT1 POMT2
5 skeletal muscle tissue regeneration GO:0043403 9.58 DAG1 DMD LARGE1
6 protein glycosylation GO:0006486 9.56 FKRP FKTN LARGE1 LARGE2 MGAT4C POMGNT1
7 muscle cell cellular homeostasis GO:0046716 9.54 DMD LARGE1 LARGE2
8 glycosaminoglycan catabolic process GO:0006027 9.52 AGRN HSPG2
9 mannosylation GO:0097502 9.51 POMT1 POMT2
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 DAG1 DMD
11 Schwann cell differentiation GO:0014037 9.46 DAG1 LAMA2
12 positive regulation of protein O-linked glycosylation GO:1904100 9.43 POMT1 POMT2
13 glycoprotein biosynthetic process GO:0009101 9.43 FKRP GOLPH3 LARGE1
14 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 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.81 FKRP FKTN GNE LARGE1 LARGE2 MGAT4C
2 manganese ion binding GO:0030145 9.54 LARGE1 LARGE2 POMGNT1
3 glucuronosyltransferase activity GO:0015020 9.51 LARGE1 LARGE2
4 acetylglucosaminyltransferase activity GO:0008375 9.49 LARGE1 POMGNT1
5 laminin binding GO:0043236 9.48 AGRN DAG1
6 vinculin binding GO:0017166 9.43 DAG1 DMD
7 transferase activity, transferring glycosyl groups GO:0016757 9.43 LARGE1 LARGE2 MGAT4C POMGNT1 POMT1 POMT2
8 UDP-xylosyltransferase activity GO:0035252 9.4 LARGE1 LARGE2
9 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT1 POMT2
10 xylosyltransferase activity GO:0042285 9.26 LARGE1 LARGE2
11 dystroglycan binding GO:0002162 8.92 AGRN DAG1 DMD FKRP
12 metal ion binding GO:0046872 10.11 DMD GNE HSPG2 LARGE1 LARGE2 MGAT4C

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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