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 51 12
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 69 26
Muscular Dystrophy, Congenital, Type 1d 67
Congenital Muscular Dystrophy Type 1d 69
 
Muscular Dystrophy Large-Related 69
Mddgb6 69
Mdc1d 69

Characteristics:

HPO:

63
muscular dystrophy-dystroglycanopathy , type b, 6:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 608840
MedGen36 C1837229
MeSH38 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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OMIM:51 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:69 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 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:

 63 (show all 24)
id Description HPO Frequency HPO Source Accession
1 macroglossia63 HP:0000158
2 decreased light- and dark-adapted electroretinogram amplitude63 HP:0000654
3 horizontal nystagmus63 HP:0000666
4 muscular hypotonia63 HP:0001252
5 global developmental delay63 HP:0001263
6 motor delay63 HP:0001270
7 pachygyria63 HP:0001302
8 cerebellar hypoplasia63 HP:0001321
9 achilles tendon contracture63 HP:0001771
10 intellectual disability, profound63 HP:0002187
11 abnormality of neuronal migration63 HP:0002269
12 hypoplasia of the brainstem63 HP:0002365
13 lower limb hyperreflexia63 HP:0002395
14 abnormality of the periventricular white matter63 HP:0002518
15 elbow flexion contracture63 HP:0002987
16 elevated serum creatine phosphokinase63 HP:0003236
17 emg63 HP:0003458
18 babinski sign63 HP:0003487
19 muscular dystrophy63 HP:0003560
20 proximal muscle weakness63 HP:0003701
21 congenital muscular dystrophy63 HP:0003741
22 short stature63 HP:0004322
23 joint contracture of the hand63 HP:0009473
24 facial palsy63 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 B626

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

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

35
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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet