MCID: MSC042
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type B, 6 malady

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

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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Looking for an antibody for researching muscular dystrophy-dystroglycanopathy , type b, 6?

LARGE antibody
OMIM:46 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 mdc1d, is related to congenital muscular dystrophy and muscular dystrophy, and has symptoms including autosomal recessive inheritance, macroglossia and decreased electroretinogram (erg) amplitude. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6 is LARGE (like-glycosyltransferase). Affiliated tissues include brain.

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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Sources:
61UMLS, 46OMIM, 48Orphanet, 27ICD10 via Orphanet
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Muscular Dystrophy-Dystroglycanopathy , Type B, 6, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 6 46
Mdc1d 48 61
 
Congenital Muscular Dystrophy Type 1d 48
Congenital Muscular Dystrophy 61


Classifications:



External Ids:

OMIM46 608840
ICD10 via Orphanet27 G71.2

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 1 family:

Muscular Dystrophy-Dystroglycanopathy 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, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy10.4
2muscular dystrophy10.4
3mental retardation10.1

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 25)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 macroglossia HP:0000158
3 decreased electroretinogram (erg) 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 short stature HP:0004322
24 joint contracture of the hand HP:0009473
25 facial palsy HP:0010628

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

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Search 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:

32
Brain

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:

63
id Symbol AA change Variation ID SNP ID
1LARGEp.Glu509LysVAR_019811

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

7
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type B, 6

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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Compounds 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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Products 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet