MCID: MSC099
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type B, 14 malady

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

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

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 14 49
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B14 67
 
Congenital Muscular Dystrophy Gmppb-Related 67
Mddgb14 67


Classifications:



External Ids:

OMIM49 615351
MeSH36 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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OMIM:49 MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in... (615351) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type B, 14, also known as muscular dystrophy-dystroglycanopathy congenital with mental retardation b14, is related to muscular dystrophy-dystroglycanopathy , type b, 1 and muscular dystrophy-dystroglycanopathy , type c, 14, and has symptoms including strabismus, ptosis and cataract. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.

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

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type b, 110.1
2muscular dystrophy-dystroglycanopathy , type c, 149.8AMIGO3, GMPPB
3muscular dystrophy-dystroglycanopathy , type a, 149.8AMIGO3, GMPPB
4muscular dystrophy-dystroglycanopathy , type b, 149.7AMIGO3, GMPPB

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Symptoms by clinical synopsis from OMIM:

615351

Clinical features from OMIM:

615351

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

(show all 21)
id Description Frequency HPO Source Accession
1 strabismus rare (5%) HP:0000486
2 ptosis rare (5%) HP:0000508
3 cataract rare (5%) HP:0000518
4 nystagmus rare (5%) HP:0000639
5 seizures rare (5%) HP:0001250
6 cerebellar hypoplasia rare (5%) HP:0001321
7 flexion contracture rare (5%) HP:0001371
8 prolonged qt interval rare (5%) HP:0001657
9 autosomal recessive inheritance HP:0000007
10 microcephaly HP:0000252
11 intellectual disability HP:0001249
12 muscular hypotonia HP:0001252
13 global developmental delay HP:0001263
14 absent speech HP:0001344
15 decreased fetal movement HP:0001558
16 myopathic facies HP:0002058
17 poor head control HP:0002421
18 elevated serum creatine phosphokinase HP:0003236
19 congenital muscular dystrophy HP:0003741
20 variable expressivity HP:0003828
21 feeding difficulties HP:0011968

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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

33
Eye

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

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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

67
id Symbol AA change Variation ID SNP ID
1GMPPBp.Pro32LeuVAR_070144
2GMPPBp.Arg185CysVAR_070145
3GMPPBp.Arg287GlnVAR_070146

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GMPPBNM_021971.2(GMPPB): c.553C> T (p.Arg185Cys)single nucleotide variantPathogenicrs397509425GRCh37Chr 3, 49760037: 49760037
2GMPPBNM_013334.3(GMPPB): c.95C> T (p.Pro32Leu)single nucleotide variantPathogenicrs397509426GRCh37Chr 3, 49761065: 49761065
3GMPPBNM_013334.3(GMPPB): c.860G> A (p.Arg287Gln)single nucleotide variantPathogenicrs202160208GRCh37Chr 3, 49759489: 49759489

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

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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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GO Terms 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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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet