MDDGB14
MCID: MSC099
MIFTS: 22

Muscular Dystrophy-Dystroglycanopathy , Type B, 14 (MDDGB14) 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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 14 54 29 69
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B14 66
Congenital Muscular Dystrophy Gmppb-Related 66
Mddgb14 66

Characteristics:

HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 14:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 615351
MeSH 42 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

OMIM : 54 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 seizures, ptosis and nystagmus. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B).

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type b, 1 10.8

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

Symptoms by clinical synopsis from OMIM:

615351

Clinical features from OMIM:

615351

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

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ptosis 32 HP:0000508
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 muscular hypotonia 32 HP:0001252
6 cataract 32 HP:0000518
7 global developmental delay 32 HP:0001263
8 microcephaly 32 HP:0000252
9 hypertonia 32 HP:0001276
10 flexion contracture 32 HP:0001371
11 elevated serum creatine phosphokinase 32 HP:0003236
12 feeding difficulties 32 HP:0011968
13 strabismus 32 HP:0000486
14 absent speech 32 HP:0001344
15 prolonged qt interval 32 HP:0001657
16 cerebellar hypoplasia 32 HP:0001321
17 decreased fetal movement 32 HP:0001558
18 congenital muscular dystrophy 32 HP:0003741
19 myopathic facies 32 HP:0002058
20 poor head control 32 HP:0002421

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


generalized muscle wasting

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

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

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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, 14 29

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

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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

66
id Symbol AA change Variation ID SNP ID
1 GMPPB p.Pro32Leu VAR_070144 rs397509426
2 GMPPB p.Arg185Cys VAR_070145 rs397509425
3 GMPPB p.Arg287Gln VAR_070146 rs202160208

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GMPPB NM_021971.2(GMPPB): c.1000G> A (p.Asp334Asn) single nucleotide variant Pathogenic rs397509422 GRCh37 Chromosome 3, 49759268: 49759268
2 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037
3 GMPPB NM_013334.3(GMPPB): c.95C> T (p.Pro32Leu) single nucleotide variant Pathogenic rs397509426 GRCh37 Chromosome 3, 49761065: 49761065
4 GMPPB NM_013334.3(GMPPB): c.860G> A (p.Arg287Gln) single nucleotide variant Pathogenic rs202160208 GRCh37 Chromosome 3, 49759489: 49759489

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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