MCID: MSC099
MIFTS: 36

Muscular Dystrophy-Dystroglycanopathy , Type B, 14 malady

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

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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48OMIM, 34MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type B, 14, also known as congenital muscular dystrophy with intellectual disability, is related to congenital disorder of glycosylation, type iu and muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14 is GMPPB (GDP-mannose pyrophosphorylase B), and among its related pathways is Other types of O-glycan biosynthesis. The compounds Dolichyl phosphate D-mannose and dolichol phosphate have been mentioned in the context of this disorder. Related mouse phenotypes are other and craniofacial.

Description from OMIM:48 615351, 613155, 613151, 613156, 606612 608840 more

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type b, 14 48
congenital muscular dystrophy with intellectual disability 50
congenital muscular dystrophy with cerebellar involvement 50
cmd with intellectual disability 50
cmd with cerebellar involvement 50
cmd-crb 50
cmd-mr 50


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ICD10 via Orphanet27 G71.2

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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18GeneCards, 19GeneDecks
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Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 7 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, 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, 14 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type iu10.4
2muscular dystrophy10.1POMT2
3congenital muscular dystrophy10.1LARGE
4hypertrophy of breast10.0FKRP, POMT1
5intellectual disability10.0FKRP, POMT1
6neuropathy9.9FKRP, POMT1, POMGNT1
7fukuyama type muscular dystrophy9.9LARGE, POMGNT1, POMT1
8myopathy9.9FKRP, POMT1, POMGNT1
9mental retardation9.9POMGNT1, POMT1, FKRP
10muscular dystrophy-dystroglycanopathy , type a, 149.9LARGE, POMGNT1, POMT1, FKRP
11limb-girdle muscular dystrophy9.9LARGE, POMGNT1, POMT1, FKRP
12lissencephaly9.9POMGNT1, POMT2, POMT1, FKRP
13walker-warburg syndrome9.8FKRP, POMT1, POMT2, POMGNT1, LARGE

Graphical network of diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:



Diseases related to muscular dystrophy-dystroglycanopathy  , type b, 14

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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48OMIM
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Symptoms by clinical synopsis from OMIM:

615351

Clinical features from OMIM:

615351,613155,613151,613156,606612,608840

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type B, 14 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0POMT2, POMGNT1
2MP:00053828.7LARGE, POMGNT1, FKRP
3MP:00053918.4FKRP, POMGNT1, LARGE
4MP:00053698.3POMGNT1, FKRP, POMT1, LARGE
5MP:00036318.1LARGE, POMGNT1, POMT2, FKRP
6MP:00053788.0LARGE, POMGNT1, POMT2, FKRP
7MP:00107687.6FKRP, LARGE, POMGNT1, POMT2, POMT1

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

65
id Symbol AA change Variation ID SNP ID
1GMPPBp.Pro32LeuVAR_070144
2GMPPBp.Arg185CysVAR_070145
3GMPPBp.Arg287GlnVAR_070146

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type B, 14

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 14.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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51PathCards, 31KEGG
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Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5POMT1, POMT2, POMGNT1

Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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25HMDB, 30IUPHAR, 46Novoseek
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Compounds related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Dolichyl phosphate D-mannose259.2POMT1, POMT2
2dolichol phosphate30 2510.0POMT1, POMT2
3manganese46 259.5POMT1, POMT2, POMGNT1

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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17Gene Ontology
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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of membraneGO:0160218.1FKRP, POMT1, POMT2, POMGNT1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein biosynthetic processGO:0091019.2FKRP, LARGE
2protein O-linked glycosylationGO:0064939.1POMT1, POMGNT1

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:0041699.3POMT1, POMT2

Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet