MDDGB6
MCID: MSC042
MIFTS: 46

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

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

Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 6 54 12 13
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 66 29
Muscular Dystrophy-Dystroglycanopathy Type B6 12 14
Congenital Muscular Dystrophy Type 1d 12 66
Mddgb6 12 66
Mdc1d 12 66
Congenital Muscular Dystrophy Large-Related 12
Muscular Dystrophy, Congenital, Type 1d 69
Muscular Dystrophy Large-Related 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 608840
Disease Ontology 12 DOID:0110637
ICD10 33 G71.2
MedGen 40 C1837229
MeSH 42 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

OMIM : 54 MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain... (608840) more...

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 6, also known as muscular dystrophy-dystroglycanopathy congenital with mental retardation b6, is related to large1-related muscle diseases and muscular dystrophy-dystroglycanopathy , type b, 1, and has symptoms including muscular hypotonia, facial palsy and macroglossia. 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 and skeletal muscle, and related phenotypes are behavior/neurological and growth/size/body region

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 : 66 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, 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 41)
id Related Disease Score Top Affiliating Genes
1 large1-related muscle diseases 11.1
2 muscular dystrophy-dystroglycanopathy , type b, 1 10.8
3 intrauterine growth retardation - mandibular malar hypoplasia 10.2 FKRP FKTN
4 epileptic encephalopathy, early infantile, 4 10.2 POMT1 POMT2
5 dementia, frontotemporal 10.2 POMT1 POMT2
6 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 10.2 FKRP FKTN POMT1
7 muscular dystrophy-dystroglycanopathy , type c, 1 10.2 FKRP FKTN POMT1
8 nephronophthisis 2, infantile 10.1 FKRP FKTN POMT2
9 pancreatic agenesis 1 10.1 DAG1 DMD
10 alk-positive large b-cell lymphoma 10.1 FKRP LARGE1 POMT1 POMT2
11 charcot-marie-tooth disease, type 2b2 10.1 FKRP LAMA2
12 hydroa vacciniforme-like lymphoma 10.1 FKRP POMGNT1 POMT1 POMT2
13 asphyxiating thoracic dystrophy 10.1 FKRP POMGNT1 POMT1 POMT2
14 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 DMD FKRP POMT1
15 deafness, autosomal recessive 18b 10.1 FKRP FKTN POMT1 POMT2
16 prosthetic joint infection 10.0 DMD FKRP POMT2
17 myopathy, distal, with anterior tibial onset 10.0 DMD FKRP
18 coronary artery disease 10.0 FKRP FKTN LARGE1 POMGNT1 POMT1
19 muscular dystrophy 10.0
20 cardiomyopathy, familial restrictive, 3 10.0 DAG1 DMD LAMA2
21 lipodystrophy, familial partial, 2 10.0 DAG1 DMD LAMA2
22 thrombocytopenia, x-linked 10.0 DMD FKRP LAMA2
23 cubitus valgus with mental retardation and unusual facies 9.9 DMD GNE LAMA2
24 sdhc-related paraganglioma and gastric stromal sarcoma 9.9 DAG1 DMD
25 gabrg2-related generalized epilepsy with febrile seizures plus 9.9 FKRP FKTN LAMA2 POMGNT1 POMT1
26 paresthesia 9.9 DMD HSPG2
27 phototoxic dermatitis 9.9 DMD GNE LAMA2
28 autosomal recessive nonsyndromic deafness 47 9.9 DAG1 DMD FKTN LAMA2
29 cardiomyopathy, dilated, 1aa, with or without lvnc 9.8 DAG1 DMD FKRP FKTN LAMA2
30 cdkl5-related angelman-like syndrome 9.8 DAG1 DMD FKTN LAMA2
31 sudden infant death with dysgenesis of the testes syndrome 9.7 AGRN DAG1 DMD FKTN LAMA2
32 emery-dreifuss muscular dystrophy, dominant type 9.7 DAG1 DMD FKRP FKTN LAMA2
33 cardiomyopathy, dilated, 1x 9.7 DAG1 DMD FKTN LAMA2 POMGNT1 POMT1
34 cerebral angioma 9.6 DAG1 DMD FKRP FKTN GNE LAMA2
35 cone-rod dystrophy, prph2-related 9.6 DAG1 DMD FKRP FKTN LARGE1 POMGNT1
36 myasthenia gravis, limb-girdle 9.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
37 central corneal ulcer 9.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
38 muscular dystrophy, limb-girdle, type 1b 9.3 DAG1 DMD FKRP FKTN LAMA2 LARGE1
39 glycogen storage disease 0, muscle 9.2 AGRN DAG1 DMD FKRP FKTN LAMA2
40 autosomal dominant nonsyndromic deafness 9.1 AGRN DAG1 DMD FKRP FKTN LAMA2
41 dermatofibrosarcoma protuberans 8.2 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 by clinical synopsis from OMIM:

608840

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 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 abnormality of neuronal migration 32 HP:0002269
9 cerebellar hypoplasia 32 HP:0001321
10 intellectual disability, profound 32 HP:0002187
11 pachygyria 32 HP:0001302
12 motor delay 32 HP:0001270
13 muscular dystrophy 32 HP:0003560
14 congenital muscular dystrophy 32 HP:0003741
15 abnormality of the periventricular white matter 32 HP:0002518
16 proximal muscle weakness 32 HP:0003701
17 horizontal nystagmus 32 HP:0000666
18 elbow flexion contracture 32 HP:0002987
19 joint contracture of the hand 32 HP:0009473
20 lower limb hyperreflexia 32 HP:0002395
21 hypoplasia of the brainstem 32 HP:0002365
22 emg 32 HP:0003458
23 achilles tendon contracture 32 HP:0001771
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 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 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 LAMA2 LARGE1 POMGNT1 POMT1 POMT2 AGRN
6 muscle MP:0005369 9.7 AGRN DAG1 DMD FKRP FKTN GNE
7 nervous system MP:0003631 9.32 FKRP FKTN HSPG2 LAMA2 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:

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

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:

66
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 14)
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
11.95 DAG1 DMD LAMA2
6
Show member pathways
11.93 AGRN DAG1 HSPG2
7
Show member pathways
11.85 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:

id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 FKRP FKTN GOLPH3 LARGE1 LARGE2 MGAT4C
2 Golgi membrane GO:0000139 9.63 FKRP FKTN LARGE1 LARGE2 MGAT4C POMGNT1
3 Golgi lumen GO:0005796 9.54 AGRN DAG1 HSPG2
4 basement membrane GO:0005604 9.5 DAG1 HSPG2 LAMA2
5 costamere GO:0043034 9.43 DAG1 DMD
6 basal lamina GO:0005605 9.4 AGRN LAMA2
7 sarcolemma GO:0042383 9.26 DAG1 DMD FKRP LAMA2
8 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 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 response to denervation involved in regulation of muscle adaptation GO:0014894 9.49 DAG1 DMD
11 ER-associated misfolded protein catabolic process GO:0071712 9.48 POMT1 POMT2
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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