MCID: MSC099
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type B, 14 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Metabolic diseases, Rare diseases, Fetal diseases, Eye diseases

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 50 25
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B14 68
 
Congenital Muscular Dystrophy Gmppb-Related 68
Mddgb14 68

Characteristics:

HPO:

62
muscular dystrophy-dystroglycanopathy , type b, 14:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 615351
MeSH37 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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OMIM:50 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).

UniProtKB/Swiss-Prot:68 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, 110.0
2muscular dystrophy-dystroglycanopathy , type c, 149.5AMIGO3, GMPPB
3muscular dystrophy-dystroglycanopathy , type a, 149.4AMIGO3, GMPPB
4muscular dystrophy-dystroglycanopathy , type b, 149.2AMIGO3, 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 19)
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 microcephaly HP:0000252
10 intellectual disability HP:0001249
11 muscular hypotonia HP:0001252
12 global developmental delay HP:0001263
13 absent speech HP:0001344
14 decreased fetal movement HP:0001558
15 myopathic facies HP:0002058
16 poor head control HP:0002421
17 elevated serum creatine phosphokinase HP:0003236
18 congenital muscular dystrophy HP:0003741
19 feeding difficulties HP:0011968

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:


myopathic facies, generalized muscle wasting

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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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

id Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Mental Retardation), Type B, 1425

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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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:

68
id Symbol AA change Variation ID SNP ID
1GMPPBp.Pro32LeuVAR_070144rs397509426
2GMPPBp.Arg185CysVAR_070145rs397509425
3GMPPBp.Arg287GlnVAR_070146rs202160208

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet