MCID: MSC038
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type B, 4 malady

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

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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48OMIM, 34MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type B, 4, also known as congenital muscular dystrophy without intellectual disability, is related to dilated cardiomyopathy and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4 is FKTN (fukutin). Related mouse phenotypes are other and cellular.

Description from OMIM:48 613152,606612

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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



Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type b, 4 48
congenital muscular dystrophy without intellectual disability 50
cmd without intellectual disability 50
cmd-no mr 50


External Ids:

ICD10 via Orphanet27 G71.2

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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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, 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy10.0FKRP
2limb-girdle muscular dystrophy10.0FKRP, FKTN
3fukuyama type muscular dystrophy10.0FKTN, POMT1
4hypertrophy of breast10.0FKRP, POMT1
5muscular dystrophy-dystroglycanopathy , type a, 149.9POMT1, FKTN, FKRP
6lissencephaly9.9FKRP, FKTN, POMT1
7muscular dystrophy9.9POMT1, FKTN, FKRP
8neuropathy9.9FKRP, FKTN, POMT1
9intellectual disability9.9POMT1, FKTN, FKRP
10myopathy9.9FKRP, FKTN, POMT1
11mental retardation9.9POMT1, FKTN, FKRP
12walker-warburg syndrome9.9FKRP, FKTN, POMT1, ISPD

Graphical network of diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4:



Diseases related to muscular dystrophy-dystroglycanopathy  , type b, 4

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613152

Clinical features from OMIM:

613152,606612

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type B, 4 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1FKTN, ISPD
2MP:00053848.8FKRP, FKTN, ISPD
3MP:00053698.4POMT1, FKTN, FKRP
4MP:00107688.0FKRP, FKTN, POMT1, ISPD

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 4:

65
id Symbol AA change Variation ID SNP ID
1FKTNp.Arg307GlnVAR_039288
2FKTNp.Arg246GlyVAR_065053

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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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, 4

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 4.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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17Gene Ontology
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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:0001399.3FKRP, FKTN

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:0167409.3FKRP, FKTN

Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 4

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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