MCID: MSC042
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type B, 6 malady

Categories: Genetic diseases, Neuronal diseases, Muscle 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 12
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 70 27
Muscular Dystrophy, Congenital, Type 1d 68
Congenital Muscular Dystrophy Type 1d 70
 
Muscular Dystrophy Large-Related 70
Mddgb6 70
Mdc1d 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
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). Affiliated tissues include brain and skeletal muscle.

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.

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
1large1-related muscle diseases11.1
2muscular dystrophy-dystroglycanopathy , type b, 110.8
3muscular dystrophy10.0

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

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 DELindelPathogenicChr na, -1: -1
2LARGE1NM_004737.5(LARGE1): c.1525G> A (p.Glu509Lys)SNVPathogenicrs121908675GRCh37Chr 22, 33700420: 33700420
3LARGE1LARGE, 1-BP INS, 1999TinsertionPathogenicChr na, -1: -1
4LARGE1LARGE, 667FSundetermined variantPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet