MCID: MSC042
MIFTS: 14

Muscular Dystrophy-Dystroglycanopathy , Type B, 6 malady

Genetic diseases (common), Muscle diseases, Neuronal diseases, Mental diseases categories

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

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Muscular Dystrophy-Dystroglycanopathy , Type B, 6, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 6 45 10


Classifications:



External Ids:

OMIM45 608840

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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OMIM:45 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 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.

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

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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:

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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:

31
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:

62
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 Variation 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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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
  • Antibodies
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet