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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 6 52 11 12
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 70 27
Muscular Dystrophy-Dystroglycanopathy Type B6 11 13
Congenital Muscular Dystrophy Type 1d 11 70
Mddgb6 11 70
 
Mdc1d 11 70
Congenital Muscular Dystrophy Large-Related 11
Muscular Dystrophy, Congenital, Type 1d 68
Muscular Dystrophy Large-Related 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type b, 6:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 608840
Disease Ontology11 DOID:0110637
ICD1030 G71.2
MedGen37 C1837229
MeSH39 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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OMIM:52 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 macroglossia, decreased light- and dark-adapted electroretinogram amplitude 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 are Other types of O-glycan biosynthesis and ECM proteoglycans. Affiliated tissues include brain and skeletal muscle, and related mouse phenotypes are cardiovascular system and behavior/neurological.

UniProtKB/Swiss-Prot:70 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:11 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

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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)
idRelated DiseaseScoreTop Affiliating Genes
1large1-related muscle diseases11.1
2muscular dystrophy-dystroglycanopathy , type b, 110.8
3intrauterine growth retardation - mandibular malar hypoplasia10.2FKRP, FKTN
4epileptic encephalopathy, early infantile, 410.2POMT1, POMT2
5dementia, frontotemporal10.2POMT1, POMT2
6systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood10.2FKRP, FKTN, POMT1
7muscular dystrophy-dystroglycanopathy , type c, 110.2FKRP, FKTN, POMT1
8nephronophthisis 2, infantile10.1FKRP, FKTN, POMT2
9pancreatic agenesis 110.1DAG1, DMD
10alk-positive large b-cell lymphoma10.1FKRP, LARGE1, POMT1, POMT2
11charcot-marie-tooth disease, type 2b210.1FKRP, LAMA2
12hydroa vacciniforme-like lymphoma10.1FKRP, POMGNT1, POMT1, POMT2
13asphyxiating thoracic dystrophy10.1FKRP, POMGNT1, POMT1, POMT2
14autosomal recessive limb-girdle muscular dystrophy type 2h10.1DMD, FKRP, POMT1
15deafness, autosomal recessive 18b10.1FKRP, FKTN, POMT1, POMT2
16prosthetic joint infection10.0DMD, FKRP, POMT2
17myopathy, distal, with anterior tibial onset10.0DMD, FKRP
18coronary artery disease10.0FKRP, FKTN, LARGE1, POMGNT1, POMT1
19muscular dystrophy10.0
20cardiomyopathy, familial restrictive, 310.0DAG1, DMD, LAMA2
21lipodystrophy, familial partial, 210.0DAG1, DMD, LAMA2
22thrombocytopenia, x-linked10.0DMD, FKRP, LAMA2
23cubitus valgus with mental retardation and unusual facies9.9DMD, GNE, LAMA2
24sdhc-related paraganglioma and gastric stromal sarcoma9.9DAG1, DMD
25gabrg2-related generalized epilepsy with febrile seizures plus9.9FKRP, FKTN, LAMA2, POMGNT1, POMT1
26paresthesia9.9DMD, HSPG2
27phototoxic dermatitis9.9DMD, GNE, LAMA2
28autosomal recessive nonsyndromic deafness 479.9DAG1, DMD, FKTN, LAMA2
29cardiomyopathy, dilated, 1aa, with or without lvnc9.8DAG1, DMD, FKRP, FKTN, LAMA2
30cdkl5-related angelman-like syndrome9.8DAG1, DMD, FKTN, LAMA2
31sudden infant death with dysgenesis of the testes syndrome9.7AGRN, DAG1, DMD, FKTN, LAMA2
32emery-dreifuss muscular dystrophy, dominant type9.7DAG1, DMD, FKRP, FKTN, LAMA2
33cardiomyopathy, dilated, 1x9.7DAG1, DMD, FKTN, LAMA2, POMGNT1, POMT1
34cerebral angioma9.6DAG1, DMD, FKRP, FKTN, GNE, LAMA2
35cone-rod dystrophy, prph2-related9.6DAG1, DMD, FKRP, FKTN, LARGE1, POMGNT1
36myasthenia gravis, limb-girdle9.4DAG1, DMD, FKRP, FKTN, LAMA2, LARGE1
37central corneal ulcer9.4DAG1, DMD, FKRP, FKTN, LAMA2, LARGE1
38muscular dystrophy, limb-girdle, type 1b9.3DAG1, DMD, FKRP, FKTN, LAMA2, LARGE1
39glycogen storage disease 0, muscle9.2AGRN, DAG1, DMD, FKRP, FKTN, LAMA2
40autosomal dominant nonsyndromic deafness9.1AGRN, DAG1, DMD, FKRP, FKTN, LAMA2
41dermatofibrosarcoma protuberans8.2AGRN, 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

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Symptoms by clinical synopsis from OMIM:

608840

Clinical features from OMIM:

608840

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

 64 (show all 24)
id Description HPO Frequency HPO Source Accession
1 macroglossia64 HP:0000158
2 decreased light- and dark-adapted electroretinogram amplitude64 HP:0000654
3 horizontal nystagmus64 HP:0000666
4 muscular hypotonia64 HP:0001252
5 global developmental delay64 HP:0001263
6 motor delay64 HP:0001270
7 pachygyria64 HP:0001302
8 cerebellar hypoplasia64 HP:0001321
9 achilles tendon contracture64 HP:0001771
10 intellectual disability, profound64 HP:0002187
11 abnormality of neuronal migration64 HP:0002269
12 hypoplasia of the brainstem64 HP:0002365
13 lower limb hyperreflexia64 HP:0002395
14 abnormality of the periventricular white matter64 HP:0002518
15 elbow flexion contracture64 HP:0002987
16 elevated serum creatine phosphokinase64 HP:0003236
17 emg64 HP:0003458
18 babinski sign64 HP:0003487
19 muscular dystrophy64 HP:0003560
20 proximal muscle weakness64 HP:0003701
21 congenital muscular dystrophy64 HP:0003741
22 short stature64 HP:0004322
23 joint contracture of the hand64 HP:0009473
24 facial palsy64 HP:0010628

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4AGRN, DAG1, DMD, GNE, HSPG2, LARGE1
2MP:00053867.6AGRN, DAG1, DMD, FKRP, FKTN, GNE
3MP:00053767.6AGRN, DAG1, DMD, FKRP, FKTN, GNE
4MP:00053697.3AGRN, DAG1, DMD, FKRP, FKTN, GNE
5MP:00053787.3AGRN, DAG1, DMD, FKRP, FKTN, GNE
6MP:00107687.0AGRN, DAG1, DMD, FKRP, FKTN, GNE
7MP:00036316.8AGRN, DAG1, DMD, FKRP, FKTN, HSPG2

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B627

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

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

36
Brain, Skeletal muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

70
id Symbol AA change Variation ID SNP ID
1LARGE1p.Glu509LysVAR_019811rs121908675

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1LARGE1LARGE, 42.9-KB INS/4.1-KB DELindelPathogenic
2LARGE1NM_ 004737.5(LARGE1): c.1525G> A (p.Glu509Lys)SNVPathogenicrs121908675GRCh37Chr 22, 33700420: 33700420
3LARGE1LARGE, 1-BP INS, 1999TinsertionPathogenic
4LARGE1LARGE, 667FSundetermined variantPathogenic

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.9POMT1, POMT2
29.3AGRN, DAG1, LAMA2
39.3AGRN, DAG1, LAMA2
4
Show member pathways
9.2DAG1, DMD, LAMA2
5
Show member pathways
9.2AGRN, DAG1, HSPG2
6
Show member pathways
9.2AGRN, DAG1, HSPG2
7
Show member pathways
8.7AGRN, DAG1, HSPG2, LAMA2
8
Show member pathways
8.3DAG1, LARGE1, LARGE2, POMGNT1, POMT1, POMT2
98.2AGRN, DAG1, DMD, HSPG2, LAMA2
10
Show member pathways
8.2AGRN, DAG1, DMD, HSPG2, LAMA2
11
Show member pathways
8.2AGRN, DAG1, DMD, HSPG2, LAMA2
128.0FKRP, FKTN, LARGE1, LARGE2, POMGNT1, POMT1
13
Show member pathways
7.0DAG1, GNE, HSPG2, LARGE1, LARGE2, MGAT4C
14
Show member pathways
6.3AGRN, FKRP, FKTN, GNE, HSPG2, LARGE1

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

idNameGO IDScoreTop Affiliating Genes
1costamereGO:004303410.4DAG1, DMD
2basal laminaGO:000560510.4AGRN, LAMA2
3dystrophin-associated glycoprotein complexGO:001601010.1DAG1, DMD, FKRP
4basement membraneGO:00056049.9DAG1, HSPG2, LAMA2
5Golgi lumenGO:00057969.8AGRN, DAG1, HSPG2
6sarcolemmaGO:00423838.9DAG1, DMD, FKRP, LAMA2
7Golgi membraneGO:00001398.8FKRP, FKTN, LARGE1, LARGE2, MGAT4C, POMGNT1
8Golgi apparatusGO:00057948.4FKRP, FKTN, GOLPH3, LARGE1, LARGE2, MGAT4C

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1ER-associated misfolded protein catabolic processGO:007171210.6POMT1, POMT2
2mannosylationGO:009750210.5POMT1, POMT2
3positive regulation of protein O-linked glycosylationGO:190410010.5POMT1, POMT2
4glycoprotein biosynthetic processGO:000910110.1FKRP, GOLPH3, LARGE1
5glycosaminoglycan catabolic processGO:000602710.1AGRN, HSPG2
6Schwann cell differentiationGO:001403710.1DAG1, LAMA2
7glycosaminoglycan metabolic processGO:003020310.1AGRN, HSPG2
8response to denervation involved in regulation of muscle adaptationGO:001489410.1DAG1, DMD
9muscle organ developmentGO:00075179.8DMD, FKTN, LAMA2
10muscle cell cellular homeostasisGO:00467169.5DMD, LARGE1, LARGE2
11skeletal muscle tissue regenerationGO:00434039.4DAG1, DMD, LARGE1
12extracellular matrix organizationGO:00301989.1AGRN, DAG1, HSPG2, LAMA2, POMT1
13protein O-linked glycosylationGO:00064938.8DAG1, LARGE1, LARGE2, POMGNT1, POMT1, POMT2
14protein O-linked mannosylationGO:00352698.7FKRP, FKTN, LARGE1, LARGE2, POMT1, POMT2
15protein glycosylationGO:00064868.2FKRP, FKTN, LARGE1, LARGE2, MGAT4C, POMGNT1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1acetylglucosaminyltransferase activityGO:000837510.7LARGE1, POMGNT1
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.7POMT1, POMT2
3laminin bindingGO:004323610.5AGRN, DAG1
4glucuronosyltransferase activityGO:001502010.2LARGE1, LARGE2
5dystroglycan bindingGO:000216210.0AGRN, DAG1, DMD
6UDP-xylosyltransferase activityGO:00352529.7LARGE1, LARGE2
7vinculin bindingGO:00171669.6DAG1, DMD
8xylosyltransferase activityGO:00422859.4LARGE1, LARGE2
9transferase activity, transferring glycosyl groupsGO:00167578.6LARGE1, LARGE2, MGAT4C, POMGNT1, POMT1, POMT2
10transferase activityGO:00167407.9FKRP, FKTN, GNE, LARGE1, LARGE2, MGAT4C

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
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63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
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69UMLS via Orphanet