MCID: MSC099
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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

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

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 14 53 28 69
Mddgb14 53 71
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B14 71
Muscular Dystrophy, Congenital, Gmppb-Related 53
Congenital Muscular Dystrophy Gmppb-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth or in early infancy


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 14:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

OMIM : 53 MDDGB14 is an autosomal recessive 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. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (615351)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 14, is also known as mddgb14, 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 : 71 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, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
generalized muscle wasting
muscular dystrophy
hypotonia
muscle weakness, severe
dystrophic features seen on muscle biopsy
more
Abdomen Gastroin testinal:
feeding difficulties

Head And Neck Eyes:
nystagmus (in some patients)
strabismus (in some patients)
cataracts (in some patients)
ptosis (in some patients)

Skeletal:
contractures (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Head:
microcephaly
poor head control

Neurologic Central Nervous System:
absent speech
delayed psychomotor development
seizures (in some patients)
mental retardation, mild to severe
cerebellar hypoplasia (in some patients)
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
myopathic face

Cardiovascular Heart:
long qt syndrome (1 patient)
left ventricular dilatation (1 patient)


Clinical features from OMIM:

615351

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

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 ptosis 31 occasional (7.5%) HP:0000508
3 nystagmus 31 occasional (7.5%) HP:0000639
4 intellectual disability 31 HP:0001249
5 cataract 31 occasional (7.5%) HP:0000518
6 global developmental delay 31 HP:0001263
7 microcephaly 31 HP:0000252
8 hypertonia 31 HP:0001276
9 flexion contracture 31 occasional (7.5%) HP:0001371
10 elevated serum creatine phosphokinase 31 HP:0003236
11 feeding difficulties 31 HP:0011968
12 strabismus 31 occasional (7.5%) HP:0000486
13 absent speech 31 HP:0001344
14 prolonged qt interval 31 occasional (7.5%) HP:0001657
15 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
16 decreased fetal movement 31 HP:0001558
17 congenital muscular dystrophy 31 HP:0003741
18 myopathic facies 31 HP:0002058
19 generalized hypotonia 31 HP:0001290
20 poor head control 31 HP:0002421
21 generalized limb muscle atrophy 31 HP:0009055

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:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Mental Retardation), Type B, 14 28 GMPPB

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:

71
# 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
# 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/Likely 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.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh37 Chromosome 3, 49761081: 49761081
5 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh38 Chromosome 3, 49723008: 49723009
6 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh38 Chromosome 3, 49722698: 49722699

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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