MCID: MSC042
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type B, 6 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Metabolic diseases, Rare 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 50 12
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 68 25
Congenital Muscular Dystrophy Type 1d 68
 
Muscular Dystrophy Large-Related 68
Mddgb6 68
Mdc1d 68

Characteristics:

HPO:

62
muscular dystrophy-dystroglycanopathy , type b, 6:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 608840
MedGen35 C1837229
MeSH37 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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OMIM:50 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 large-related muscle diseases and muscular dystrophy, 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). Affiliated tissues include brain and skeletal muscle.

UniProtKB/Swiss-Prot:68 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
1large-related muscle diseases11.2
2muscular dystrophy10.1
3muscular dystrophy-dystroglycanopathy , type b, 110.0

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

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B625

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

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

34
Brain, Skeletal muscle

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:

68
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_004737.4(LARGE1): c.1525G> A (p.Glu509Lys)single nucleotide variantPathogenicrs121908675GRCh37Chr 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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet