MCID: MSC099
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare 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 57 29 6 73
Mddgb14 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B14 75
Muscular Dystrophy, Congenital, Gmppb-Related 57
Congenital Muscular Dystrophy Gmppb-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth or in early infancy


HPO:

32
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 : 57 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 generalized muscle wasting An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B). Related phenotypes are ptosis and nystagmus

UniProtKB/Swiss-Prot : 75 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:

57
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
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

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
muscular dystrophy
hypotonia
muscle weakness, severe
dystrophic features seen on muscle biopsy
hypoglycosylation of alpha-dystroglycan seen on muscle biopsy
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:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 occasional (7.5%) HP:0000508
2 nystagmus 32 occasional (7.5%) HP:0000639
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 cataract 32 occasional (7.5%) HP:0000518
6 global developmental delay 32 HP:0001263
7 microcephaly 32 HP:0000252
8 hypertonia 32 HP:0001276
9 flexion contracture 32 occasional (7.5%) HP:0001371
10 elevated serum creatine phosphokinase 32 HP:0003236
11 feeding difficulties 32 HP:0011968
12 strabismus 32 occasional (7.5%) HP:0000486
13 absent speech 32 HP:0001344
14 prolonged qt interval 32 occasional (7.5%) HP:0001657
15 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
16 decreased fetal movement 32 HP:0001558
17 muscular dystrophy 32 HP:0003560
18 congenital muscular dystrophy 32 HP:0003741
19 myopathic facies 32 HP:0002058
20 generalized hypotonia 32 HP:0001290
21 poor head control 32 HP:0002421
22 generalized limb muscle atrophy 32 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 29 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:

75
# 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
(show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 GMPPB NM_021971.2(GMPPB): c.1000G> A (p.Asp334Asn) single nucleotide variant Likely pathogenic rs397509422 GRCh37 Chromosome 3, 49759268: 49759268
2 GMPPB NM_021971.2(GMPPB): c.1000G> A (p.Asp334Asn) single nucleotide variant Likely pathogenic rs397509422 GRCh38 Chromosome 3, 49721835: 49721835
3 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037
4 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh38 Chromosome 3, 49722604: 49722604
5 GMPPB NM_013334.3(GMPPB): c.95C> T (p.Pro32Leu) single nucleotide variant Pathogenic rs397509426 GRCh37 Chromosome 3, 49761065: 49761065
6 GMPPB NM_013334.3(GMPPB): c.95C> T (p.Pro32Leu) single nucleotide variant Pathogenic rs397509426 GRCh38 Chromosome 3, 49723632: 49723632
7 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh37 Chromosome 3, 49761081: 49761081
8 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh38 Chromosome 3, 49723648: 49723648
9 GMPPB NM_013334.3(GMPPB): c.376C> G (p.His126Asp) single nucleotide variant Benign rs34345884 GRCh38 Chromosome 3, 49722998: 49722998
10 GMPPB NM_013334.3(GMPPB): c.376C> G (p.His126Asp) single nucleotide variant Benign rs34345884 GRCh37 Chromosome 3, 49760431: 49760431
11 GMPPB NM_013334.3(GMPPB): c.330C> T (p.Asp110=) single nucleotide variant Benign rs11547261 GRCh38 Chromosome 3, 49723044: 49723044
12 GMPPB NM_013334.3(GMPPB): c.330C> T (p.Asp110=) single nucleotide variant Benign rs11547261 GRCh37 Chromosome 3, 49760477: 49760477
13 GMPPB NM_021971.2(GMPPB): c.951+1G> A single nucleotide variant no interpretation for the single variant rs886039910 GRCh38 Chromosome 3, 49721964: 49721964
14 GMPPB NM_021971.2(GMPPB): c.951+1G> A single nucleotide variant no interpretation for the single variant rs886039910 GRCh37 Chromosome 3, 49759397: 49759397
15 GMPPB NM_013334.3(GMPPB): c.1129G> A (p.Gly377Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184127567 GRCh37 Chromosome 3, 49759220: 49759220
16 GMPPB NM_013334.3(GMPPB): c.1129G> A (p.Gly377Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184127567 GRCh38 Chromosome 3, 49721787: 49721787
17 GMPPB NM_013334.3(GMPPB): c.1098C> T (p.Asn366=) single nucleotide variant Likely benign rs147074020 GRCh37 Chromosome 3, 49759251: 49759251
18 GMPPB NM_013334.3(GMPPB): c.1098C> T (p.Asn366=) single nucleotide variant Likely benign rs147074020 GRCh38 Chromosome 3, 49721818: 49721818
19 GMPPB NM_013334.3(GMPPB): c.960G> A (p.Leu320=) single nucleotide variant Likely benign rs55816606 GRCh37 Chromosome 3, 49759389: 49759389
20 GMPPB NM_013334.3(GMPPB): c.960G> A (p.Leu320=) single nucleotide variant Likely benign rs55816606 GRCh38 Chromosome 3, 49721956: 49721956
21 GMPPB NM_013334.3(GMPPB): c.309T> C (p.Pro103=) single nucleotide variant Likely benign rs147516683 GRCh37 Chromosome 3, 49760498: 49760498
22 GMPPB NM_013334.3(GMPPB): c.309T> C (p.Pro103=) single nucleotide variant Likely benign rs147516683 GRCh38 Chromosome 3, 49723065: 49723065
23 GMPPB NM_013334.3(GMPPB): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs371188899 GRCh38 Chromosome 3, 49721985: 49721985
24 GMPPB NM_013334.3(GMPPB): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs371188899 GRCh37 Chromosome 3, 49759418: 49759418
25 GMPPB NM_021971.2(GMPPB): c.1077C> G (p.Ile359Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 49759191: 49759191
26 GMPPB NM_021971.2(GMPPB): c.1077C> G (p.Ile359Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 49721758: 49721758
27 GMPPB NM_021971.2(GMPPB): c.331G> A (p.Val111Met) single nucleotide variant Uncertain significance rs141201072 GRCh38 Chromosome 3, 49723043: 49723043
28 GMPPB NM_021971.2(GMPPB): c.331G> A (p.Val111Met) single nucleotide variant Uncertain significance rs141201072 GRCh37 Chromosome 3, 49760476: 49760476
29 GMPPB NM_021971.2(GMPPB): c.831C> T (p.Gly277=) single nucleotide variant Uncertain significance rs763262592 GRCh37 Chromosome 3, 49759518: 49759518
30 GMPPB NM_021971.2(GMPPB): c.831C> T (p.Gly277=) single nucleotide variant Uncertain significance rs763262592 GRCh38 Chromosome 3, 49722085: 49722085
31 GMPPB NM_021971.2(GMPPB): c.562-9C> A single nucleotide variant Likely benign rs183240200 GRCh37 Chromosome 3, 49759952: 49759952
32 GMPPB NM_021971.2(GMPPB): c.562-9C> A single nucleotide variant Likely benign rs183240200 GRCh38 Chromosome 3, 49722519: 49722519
33 GMPPB NM_021971.2(GMPPB): c.607_609delAAG (p.Lys203del) deletion Uncertain significance GRCh37 Chromosome 3, 49759896: 49759898
34 GMPPB NM_021971.2(GMPPB): c.607_609delAAG (p.Lys203del) deletion Uncertain significance GRCh38 Chromosome 3, 49722463: 49722465
35 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh37 Chromosome 3, 49760441: 49760442
36 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh38 Chromosome 3, 49723008: 49723009
37 GMPPB NM_021971.2(GMPPB): c.551G> A (p.Arg184Gln) single nucleotide variant Benign rs1466685 GRCh38 Chromosome 3, 49722606: 49722606
38 GMPPB NM_021971.2(GMPPB): c.551G> A (p.Arg184Gln) single nucleotide variant Benign rs1466685 GRCh37 Chromosome 3, 49760039: 49760039
39 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh37 Chromosome 3, 49760131: 49760132
40 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh38 Chromosome 3, 49722698: 49722699
41 GMPPB NM_021971.2(GMPPB): c.130-6T> G single nucleotide variant Likely benign rs369862012 GRCh37 Chromosome 3, 49760911: 49760911
42 GMPPB NM_021971.2(GMPPB): c.130-6T> G single nucleotide variant Likely benign rs369862012 GRCh38 Chromosome 3, 49723478: 49723478
43 GMPPB NM_021971.2(GMPPB): c.374G> A (p.Arg125Gln) single nucleotide variant Uncertain significance rs758366693 GRCh37 Chromosome 3, 49760433: 49760433
44 GMPPB NM_021971.2(GMPPB): c.374G> A (p.Arg125Gln) single nucleotide variant Uncertain significance rs758366693 GRCh38 Chromosome 3, 49723000: 49723000
45 GMPPB NM_021971.2(GMPPB): c.218T> C (p.Ile73Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 49723295: 49723295
46 GMPPB NM_021971.2(GMPPB): c.218T> C (p.Ile73Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 49760728: 49760728
47 GMPPB NM_021971.2(GMPPB): c.956G> A (p.Arg319His) single nucleotide variant Uncertain significance rs768327938 GRCh38 Chromosome 3, 49721879: 49721879
48 GMPPB NM_021971.2(GMPPB): c.956G> A (p.Arg319His) single nucleotide variant Uncertain significance rs768327938 GRCh37 Chromosome 3, 49759312: 49759312
49 GMPPB NM_021971.2(GMPPB): c.878G> A (p.Arg293Gln) single nucleotide variant Uncertain significance rs748809549 GRCh38 Chromosome 3, 49722038: 49722038
50 GMPPB NM_021971.2(GMPPB): c.878G> A (p.Arg293Gln) single nucleotide variant Uncertain significance rs748809549 GRCh37 Chromosome 3, 49759471: 49759471

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

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