MCID: MSC042
MIFTS: 49

Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Metabolic diseases, Eye diseases, Mental diseases, Muscle 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 53 12 13
Congenital Muscular Dystrophy Type 1d 12 71 36
Mddgb6 53 12 71
Mdc1d 53 12 71
Muscular Dystrophy-Dystroglycanopathy Type B6 12 14
Muscular Dystrophy, Congenital, Type 1d 53 69
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B6 28
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 71
Muscular Dystrophy, Congenital, Type 1d; Mdc1d 53
Muscular Dystrophy, Congenital, Large-Related 53
Congenital Muscular Dystrophy Large-Related 12
Muscular Dystrophy Large-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
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 : 53 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, and has symptoms including facial palsy, macroglossia and global developmental delay. 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 behavior/neurological and growth/size/body region

UniProtKB/Swiss-Prot : 71 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 40)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 29.1 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
2 muscular dystrophy 28.2 DAG1 DMD FKRP FKTN LAMA2 LARGE1
3 fukuyama type muscular dystrophy 10.4 FKRP FKTN
4 muscular dystrophy-dystroglycanopathy , type c, 1 10.3 POMT1 POMT2
5 muscular dystrophy-dystroglycanopathy , type c, 2 10.3 POMT1 POMT2
6 congenital muscular dystrophy without intellectual disability 10.3 FKRP FKTN POMT1
7 congenital nervous system abnormality 10.2 FKTN POMGNT1 POMT1
8 isolated hyperckemia 10.2 DMD FKRP
9 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 FKRP FKTN POMT2
10 lissencephaly 10.1 DAG1 FKRP FKTN
11 muscular dystrophy, limb-girdle, type 2c 10.1 DAG1 DMD
12 muscular dystrophy, limb-girdle, type 2f 10.1 DMD FKRP
13 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 FKRP LAMA2
14 congenital muscular dystrophy with intellectual disability 10.1 FKRP LARGE1 POMT1 POMT2
15 congenital muscular dystrophy with cerebellar involvement 10.1 FKRP POMGNT1 POMT1 POMT2
16 muscular dystrophy-dystroglycanopathy 10.1 FKRP POMGNT1 POMT1 POMT2
17 autosomal recessive limb-girdle muscular dystrophy 10.1 DMD FKRP POMT1
18 muscular dystrophy, limb-girdle, type 2l 10.0 FKRP FKTN POMT1 POMT2
19 limb-girdle muscular dystrophy 10.0 DMD FKRP FKTN
20 muscular dystrophy, limb-girdle, type 2b 9.9 DMD FKRP
21 ablepharon-macrostomia syndrome 9.9 FKRP FKTN LARGE1 POMGNT1 POMT1
22 cardiomyopathy, dilated, 1d 9.9 DAG1 DMD LAMA2
23 cardiomyopathy, dilated, 1a 9.9 DAG1 DMD LAMA2
24 myopathy, x-linked, with excessive autophagy 9.8 DMD GNE LAMA2
25 cenani-lenz syndactyly syndrome 9.8 AGRN HSPG2
26 gas gangrene 9.8 DMD HSPG2
27 neuromuscular disease 9.8 DMD GNE LAMA2
28 cardiomyopathy, dilated, 1b 9.7 DAG1 DMD FKTN LAMA2
29 distal muscular dystrophy 9.7 DMD GNE
30 muscular dystrophy-dystroglycanopathy , type a, 1 9.7 FKRP FKTN LARGE1 POMGNT1 POMT1 POMT2
31 muscular dystrophy, becker type 9.7 DAG1 DMD FKTN LAMA2
32 muscular dystrophy, duchenne type 9.7 DAG1 DMD FKTN LAMA2
33 muscular dystrophy, congenital, 1b 9.5 DAG1 DMD FKRP FKTN LAMA2
34 dilated cardiomyopathy 9.4 DAG1 DMD FKRP FKTN LAMA2
35 muscular dystrophy, congenital merosin-deficient, 1a 9.4 AGRN DAG1 DMD FKTN LAMA2
36 muscle tissue disease 9.2 DAG1 DMD FKRP FKTN GNE LAMA2
37 muscular dystrophy-dystroglycanopathy , type a, 4 8.8 DAG1 DMD FKRP FKTN LAMA2 LARGE1
38 muscle eye brain disease 8.8 DAG1 DMD FKRP FKTN LAMA2 LARGE1
39 muscular dystrophy-dystroglycanopathy , type b, 5 8.4 AGRN DAG1 DMD FKRP FKTN LAMA2
40 walker-warburg syndrome 8.2 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:

53
GrowthHeight:
short stature

MuscleSoftTissue:
hypotonia
delayed motor development
emg shows myopathic changes
muscle hypertrophy
lower limbs more affected than upper limbs
more
HeadAndNeckEyes:
nystagmus, horizontal
decreased electroretinogram (erg) response

SkeletalHands:
flexed fingers

SkeletalLimbs:
elbow contractures, mild
achilles tendon contractures, mild

NeurologicCentralNervousSystem:
cerebellar hypoplasia
hypoplastic brainstem
periventricular white matter changes
abnormal neuronal migration
developmental delay, global
more
LaboratoryAbnormalities:
increased serum creatine kinase

HeadAndNeckFace:
facial weakness, mild

HeadAndNeckMouth:
tongue hypertrophy


Clinical features from OMIM:

608840

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

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 macroglossia 31 HP:0000158
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322
5 elevated serum creatine phosphokinase 31 HP:0003236
6 babinski sign 31 HP:0003487
7 abnormality of neuronal migration 31 HP:0002269
8 cerebellar hypoplasia 31 HP:0001321
9 intellectual disability, profound 31 HP:0002187
10 pachygyria 31 HP:0001302
11 motor delay 31 HP:0001270
12 muscular dystrophy 31 HP:0003560
13 congenital muscular dystrophy 31 HP:0003741
14 abnormality of the periventricular white matter 31 HP:0002518
15 proximal muscle weakness 31 HP:0003701
16 generalized hypotonia 31 HP:0001290
17 horizontal nystagmus 31 HP:0000666
18 lower limb hyperreflexia 31 HP:0002395
19 elbow flexion contracture 31 HP:0002987
20 joint contracture of the hand 31 HP:0009473
21 achilles tendon contracture 31 HP:0001771
22 hypoplasia of the brainstem 31 HP:0002365
23 emg 31 HP:0003458
24 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AGRN DAG1 DMD FKRP FKTN GNE
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 AGRN DAG1 DMD FKRP FKTN GNE
5 mortality/aging MP:0010768 9.93 POMGNT1 POMT1 POMT2 AGRN DAG1 DMD
6 muscle MP:0005369 9.7 AGRN DAG1 DMD FKRP FKTN GNE
7 nervous system MP:0003631 9.32 FKTN HSPG2 LAMA2 LARGE1 POMGNT1 POMT2

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 28 LARGE1

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

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

38
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 LARGE1 LARGE1, 42.9-KB INS/4.1-KB DEL indel Pathogenic
2 LARGE1 NM_004737.5(LARGE1): c.1525G> A (p.Glu509Lys) single nucleotide variant Pathogenic rs121908675 GRCh37 Chromosome 22, 33700420: 33700420
3 LARGE1 LARGE1, 1-BP INS, 1999T insertion Pathogenic
4 LARGE1 LARGE1, 667FS undetermined variant Pathogenic

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:

36
# 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
13.56 DAG1 GNE HSPG2 LARGE1 LARGE2 MGAT4C
3
Show member pathways
12.51 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
11.84 AGRN DAG1 HSPG2
8
Show member pathways
11.8 AGRN DAG1 HSPG2 LAMA2
9
Show member pathways
11.38 AGRN DAG1 DMD HSPG2 LAMA2
10 11.36 AGRN DAG1 LAMA2
11 11.33 AGRN DAG1 LAMA2
12 10.84 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 extracellular matrix GO:0031012 9.73 AGRN DAG1 HSPG2 LAMA2
2 Golgi membrane GO:0000139 9.73 FKRP FKTN LARGE1 LARGE2 MGAT4C POMGNT1
3 Golgi apparatus GO:0005794 9.56 DMD FKRP FKTN GOLPH3 LARGE1 LARGE2
4 Golgi lumen GO:0005796 9.54 AGRN DAG1 HSPG2
5 basement membrane GO:0005604 9.5 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 9.4 AGRN LAMA2
9 dystrophin-associated glycoprotein complex GO:0016010 8.8 DAG1 DMD FKRP

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:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.81 FKRP FKTN GNE LARGE1 LARGE2 MGAT4C
2 glucuronosyltransferase activity GO:0015020 9.48 LARGE1 LARGE2
3 laminin binding GO:0043236 9.46 AGRN DAG1
4 acetylglucosaminyltransferase activity GO:0008375 9.43 LARGE1 POMGNT1
5 vinculin binding GO:0017166 9.4 DAG1 DMD
6 UDP-xylosyltransferase activity GO:0035252 9.37 LARGE1 LARGE2
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT1 POMT2
8 xylosyltransferase activity GO:0042285 9.26 LARGE1 LARGE2
9 dystroglycan binding GO:0002162 9.13 AGRN DAG1 DMD
10 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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