MCID: MSC042
MIFTS: 21

Muscular Dystrophy-Dystroglycanopathy , Type B, 6 malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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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 An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6 is LARGE (like-glycosyltransferase). Affiliated tissues include brain.

Description from OMIM:46 608840

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

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Sources:
62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Muscular Dystrophy-Dystroglycanopathy , Type B, 6, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 6 46
Mdc1d 48 62
 
Congenital Muscular Dystrophy Type 1d 48
Congenital Muscular Dystrophy 62


Classifications:



External Ids:

OMIM46 608840
ICD10 via Orphanet26 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:

64
id Symbol AA change Variation ID SNP ID
1LARGEp.Glu509LysVAR_019811

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

6
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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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet