MCID: MSC042
MIFTS: 49

Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Mental diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye 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 54 12 13
Muscular Dystrophy-Dystroglycanopathy Type B6 12 14
Congenital Muscular Dystrophy Type 1d 12 71
Mddgb6 12 71
Mdc1d 12 71
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B6 29
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 71
Congenital Muscular Dystrophy Large-Related 12
Muscular Dystrophy, Congenital, Type 1d 69
Muscular Dystrophy Large-Related 71

Characteristics:

OMIM:

54
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 : 54
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 muscular dystrophy-dystroglycanopathy type b6, is related to large1-related muscle diseases and muscular dystrophy-dystroglycanopathy , type b, 1, and has symptoms including short stature, macroglossia and horizontal nystagmus. 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 Metabolism and Metabolism of proteins. 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, 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 B, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
id Related Disease Score Top Affiliating Genes
1 large1-related muscle diseases 11.1
2 muscular dystrophy-dystroglycanopathy , type b, 1 10.7 POMGNT1 POMT1
3 galactorrhoea-hyperprolactinaemia 10.6 FKRP FKTN
4 neuropathy, hereditary sensory and autonomic, type viii 10.5 POMT1 POMT2
5 alzheimer disease, type 3 10.5 POMT1 POMT2
6 obesity due to sim1 deficiency 10.4 FKRP FKTN POMT1
7 angiodysplasia 10.3 FKTN POMGNT1 POMT1
8 multiple endocrine neoplasia 10.3 DMD FKRP
9 hirschsprung disease 5 10.3 FKRP FKTN POMT2
10 antley-bixler syndrome 10.2 DAG1 FKRP FKTN
11 pulmonary hypertension, primary, 2 10.2 DAG1 DMD
12 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 10.2 FKRP LARGE1 POMT1 POMT2
13 scn1b-related generalized epilepsy with febrile seizures plus 10.2 DAG1 DMD
14 intellectual disability-facial dysmorphism-hand anomalies syndrome 10.2 FKRP POMGNT1 POMT1 POMT2
15 autosomal recessive limb-girdle muscular dystrophy type 2e 10.1 DMD FKRP POMT1
16 tooth agenesis 10.1 FKRP POMGNT1 POMT1 POMT2
17 miyoshi muscular dystrophy 3 10.1 FKRP FKTN POMT1 POMT2
18 charcot-marie-tooth disease, type 2b2 10.0 FKRP LAMA2
19 muscular dystrophy 10.0
20 lyme disease 10.0 DMD GNE
21 coronary artery disease 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 cubitus valgus with mental retardation and unusual facies 9.8 DMD GNE LAMA2
25 spongiotic dermatitis 9.7 DMD GNE LAMA2
26 glomerulonephritis 9.7 DMD HSPG2
27 autosomal recessive nonsyndromic deafness 3 9.7 DAG1 DMD FKTN LAMA2
28 craniofrontonasal dysplasia 9.7 DMD FKRP FKTN LAMA2
29 sclerosteosis 2 9.5 AGRN HSPG2
30 muscular dystrophy, congenital, 1b 9.4 DAG1 DMD FKRP FKTN LAMA2
31 casr-related disorders 9.4 DMD FKRP FKTN LAMA2
32 ectodermal dysplasia 9.3 DAG1 DMD FKRP FKTN LAMA2
33 cerebellar ataxia and hypogonadotropic hypogonadism 9.3 AGRN DAG1 DMD FKTN LAMA2
34 eosinophilic variant of chromophobe renal cell carcinoma 9.0 DAG1 DMD FKRP FKTN GNE LAMA2
35 complement component c2 deficiency 8.8 DAG1 DMD FKRP FKTN LARGE1 POMGNT1
36 muscular dystrophy-dystroglycanopathy , type b, 4 8.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
37 muscular phosphorylase kinase deficiency 8.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
38 periodontosis 8.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
39 muscular dystrophy, congenital 8.0 DAG1 DMD FKRP FKTN LAMA2 LARGE1
40 glycogen storage disease 0, muscle 7.8 AGRN DAG1 DMD FKRP FKTN LAMA2
41 nonsyndromic deafness 7.6 AGRN DAG1 DMD FKRP FKTN LAMA2
42 dermatofibrosarcoma protuberans 5.3 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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
cerebellar hypoplasia
mental retardation, moderate to profound
developmental delay, global
periventricular white matter changes
hypoplastic brainstem
more
Head And Neck- Face:
facial weakness, mild

Head And Neck- Mouth:
tongue hypertrophy

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

Muscle Soft Tissue:
hypotonia
delayed motor development
muscle hypertrophy
decreased glycosylation of alpha-dystroglycan
emg shows myopathic changes
more
Laboratory- Abnormalities:
increased serum creatine kinase

Head And Neck- Eyes:
nystagmus, horizontal
decreased electroretinogram (erg) response

Skeletal- Hands:
flexed fingers


Clinical features from OMIM:

608840

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

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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 DAG1 DMD FKRP FKTN GNE HSPG2
2 growth/size/body region MP:0005378 10.06 AGRN DAG1 DMD FKRP FKTN GNE
3 cardiovascular system MP:0005385 9.97 AGRN DAG1 DMD GNE HSPG2 LARGE1
4 homeostasis/metabolism MP:0005376 9.96 AGRN DAG1 DMD FKRP FKTN GNE
5 mortality/aging MP:0010768 9.93 AGRN DAG1 DMD FKRP FKTN GNE
6 muscle MP:0005369 9.7 HSPG2 LAMA2 LARGE1 POMGNT1 POMT1 AGRN
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:

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

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

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

39
Brain, Skeletal Muscle, Tongue

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

71
id 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
id 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 LARGE, 1-BP INS, 1999T insertion Pathogenic
3 LARGE1 LARGE, 667FS undetermined variant Pathogenic
4 LARGE1 LARGE, 42.9-KB INS/4.1-KB DEL indel 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 GeneCards Suite gene sharing:

(show all 13)
id 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
11.92 AGRN DAG1 HSPG2
6
Show member pathways
11.86 AGRN DAG1 HSPG2
7
Show member pathways
11.8 AGRN DAG1 HSPG2 LAMA2
8
Show member pathways
11.38 AGRN DAG1 DMD HSPG2 LAMA2
9 11.36 AGRN DAG1 LAMA2
10 11.33 AGRN DAG1 LAMA2
11 10.84 POMT1 POMT2
12 10.63 AGRN DAG1 DMD HSPG2 LAMA2
13 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:

id 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 9.61 AGRN HSPG2 LAMA2
3 Golgi lumen GO:0005796 9.54 AGRN DAG1 HSPG2
4 basement membrane GO:0005604 9.5 DAG1 HSPG2 LAMA2
5 Golgi apparatus GO:0005794 9.5 FKRP FKTN GOLPH3 LARGE1 LARGE2 MGAT4C
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)
id 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 muscle cell cellular homeostasis GO:0046716 9.58 DMD LARGE1 LARGE2
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 skeletal muscle tissue regeneration GO:0043403 9.54 DAG1 DMD LARGE1
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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