MCID: MSC099
MIFTS: 21

Muscular Dystrophy-Dystroglycanopathy , Type B, 14 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic 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 52 27 68
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B14 70
 
Congenital Muscular Dystrophy Gmppb-Related 70
Mddgb14 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type b, 14:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 615351
MeSH39 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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OMIM:52 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 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:70 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, 110.8

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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Symptoms by clinical synopsis from OMIM:

615351

Clinical features from OMIM:

615351

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

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 strabismus64 rare (5%) HP:0000486
2 ptosis64 rare (5%) HP:0000508
3 cataract64 rare (5%) HP:0000518
4 nystagmus64 rare (5%) HP:0000639
5 seizures64 rare (5%) HP:0001250
6 cerebellar hypoplasia64 rare (5%) HP:0001321
7 flexion contracture64 rare (5%) HP:0001371
8 prolonged qt interval64 rare (5%) HP:0001657
9 microcephaly64 HP:0000252
10 intellectual disability64 HP:0001249
11 muscular hypotonia64 HP:0001252
12 global developmental delay64 HP:0001263
13 absent speech64 HP:0001344
14 decreased fetal movement64 HP:0001558
15 myopathic facies64 HP:0002058
16 poor head control64 HP:0002421
17 elevated serum creatine phosphokinase64 HP:0003236
18 congenital muscular dystrophy64 HP:0003741
19 feeding difficulties64 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, 1427

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

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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:

70
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)SNVPathogenicrs397509425GRCh37Chr 3, 49760037: 49760037
2GMPPBNM_013334.3(GMPPB): c.95C> T (p.Pro32Leu)SNVPathogenicrs397509426GRCh37Chr 3, 49761065: 49761065
3GMPPBNM_013334.3(GMPPB): c.860G> A (p.Arg287Gln)SNVPathogenicrs202160208GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet