MCID: MSC042
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type B, 6 malady

Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Eye diseases, Fetal diseases categories

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 49 11
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 67
Congenital Muscular Dystrophy Type 1d 67
 
Muscular Dystrophy Large-Related 67
Mddgb6 67
Mdc1d 67


Classifications:



External Ids:

OMIM49 608840
MedGen34 C1837229
MeSH36 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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OMIM:49 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 muscular dystrophy and large-related muscle diseases, and has symptoms including autosomal recessive inheritance, macroglossia and decreased light- and dark-adapted electroretinogram amplitude. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6 is LARGE (Like-Glycosyltransferase). Affiliated tissues include brain, skeletal muscle and eye.

UniProtKB/Swiss-Prot:67 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.4
2large-related muscle diseases10.4
3muscular dystrophy-dystroglycanopathy , type b, 110.1

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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Symptoms by clinical synopsis from OMIM:

608840

Clinical features from OMIM:

608840

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

(show all 26)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 macroglossia HP:0000158
3 decreased light- and dark-adapted electroretinogram amplitude HP:0000654
4 horizontal nystagmus HP:0000666
5 muscular hypotonia HP:0001252
6 global developmental delay HP:0001263
7 motor delay HP:0001270
8 pachygyria HP:0001302
9 cerebellar hypoplasia HP:0001321
10 achilles tendon contracture HP:0001771
11 intellectual disability, profound HP:0002187
12 abnormality of neuronal migration HP:0002269
13 hypoplasia of the brainstem HP:0002365
14 lower limb hyperreflexia HP:0002395
15 abnormality of the periventricular white matter HP:0002518
16 elbow flexion contracture HP:0002987
17 elevated serum creatine phosphokinase HP:0003236
18 emg HP:0003458
19 babinski sign HP:0003487
20 muscular dystrophy HP:0003560
21 infantile onset HP:0003593
22 proximal muscle weakness HP:0003701
23 congenital muscular dystrophy HP:0003741
24 short stature HP:0004322
25 joint contracture of the hand HP:0009473
26 facial palsy HP:0010628

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

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

33
Brain, Skeletal muscle, Eye

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type B, 6 or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1LARGEp.Glu509LysVAR_019811

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1LARGELARGE, 42.9-KB INS/4.1-KB DELindelPathogenic
2LARGENM_004737.4(LARGE): c.1525G> A (p.Glu509Lys)single nucleotide variantPathogenicrs121908675GRCh37Chr 22, 33700420: 33700420
3LARGELARGE, 1-BP INS, 1999TinsertionPathogenic
4LARGELARGE, 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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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet