MCID: MSC098
MIFTS: 32

Muscular Dystrophy-Dystroglycanopathy , Type C, 14

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

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 14 57 53 29 6 73
Lgmd2t 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t 12 53 59 15
Mddgc14 57 12 75
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related 57 53
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related 12 75
Muscular Dystrophy Limb-Girdle Type 2t 12 75
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14 75
Muscular Dystrophy, Limb-Girdle, Type 2t; Lgmd2t 57
Muscular Dystrophy-Dystroglycanopathy Type C14 12
Dystrophy, Muscular, Limb-Girdle, Type 2t ) 40
Muscular Dystrophy, Limb-Girdle, Type 2t 57
Limb-Girdle Muscular Dystrophy Type 2t 53

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2t
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
variable severity
onset usually in first decade
some patients may respond to treatment with pyridostigmine


HPO:

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


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

OMIM : 57 MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. 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). Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; 601462), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine (Belaya et al., 2015). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (615352)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 14, also known as lgmd2t, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B). Related phenotypes are microcephaly and cataract

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy limb-girdle C14: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 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

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 28.2 HNRNPDL TNPO3 TRAPPC11
2 muscular dystrophy 26.5 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11
3 muscular dystrophy-dystroglycanopathy 9.8 GMPPB ISPD
4 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 HNRNPDL TRAPPC11
5 autosomal recessive limb-girdle muscular dystrophy type 2e 9.7 HNRNPDL TRAPPC11
6 bethlem myopathy 1 9.7 GMPPB ISPD
7 muscular dystrophy, limb-girdle, type 1h 9.5 HNRNPDL TNPO3
8 autosomal dominant limb-girdle muscular dystrophy type 1c 9.4 HNRNPDL TNPO3
9 walker-warburg syndrome 9.4 GMPPB ISPD
10 muscular dystrophy, limb-girdle, type 1b 9.3 HNRNPDL TNPO3
11 autosomal dominant limb-girdle muscular dystrophy type 1g 8.9 HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy, limb-girdle, type 2q 8.9 HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy, limb-girdle, type 1f 8.9 HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 9 8.5 GMPPB HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy, limb-girdle, type 2w 8.5 GMPPB HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy, limb-girdle, type 2r 8.5 GMPPB HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy-dystroglycanopathy , type c, 3 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy-dystroglycanopathy , type c, 1 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
19 muscular dystrophy-dystroglycanopathy , type c, 2 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
20 muscular dystrophy, limb-girdle, type 1e 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
21 muscular dystrophy-dystroglycanopathy , type c, 7 7.9 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 14:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 14

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

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscular dystrophy
exercise intolerance
hypotonia
muscle weakness, proximal
dystrophic changes seen on muscle biopsy
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
nystagmus (1 patient)
cataracts (1 patient)

Cardiovascular Heart:
cardiomyopathy (1 patient)

Neurologic Central Nervous System:
mental retardation, mild (in some patients)
seizures (in some patients)
delayed motor development (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Respiratory:
respiratory insufficiency (1 patient)


Clinical features from OMIM:

615352

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 cataract 32 occasional (7.5%) HP:0000518
3 nystagmus 32 occasional (7.5%) HP:0000639
4 seizures 32 occasional (7.5%) HP:0001250
5 intellectual disability, mild 32 occasional (7.5%) HP:0001256
6 motor delay 32 occasional (7.5%) HP:0001270
7 generalized hypotonia 32 HP:0001290
8 cardiomyopathy 32 occasional (7.5%) HP:0001638
9 respiratory insufficiency 32 occasional (7.5%) HP:0002093
10 elevated serum creatine phosphokinase 32 HP:0003236
11 exercise intolerance 32 HP:0003546
12 muscular dystrophy 32 HP:0003560
13 proximal muscle weakness 32 HP:0003701

GenomeRNAi Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 14 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HIV-1 infection GR00226-A 8.62 HNRNPDL TNPO3

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

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

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

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

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 14 29 GMPPB

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

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

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

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 GMPPB p.Pro22Ser VAR_070142 rs397509424
2 GMPPB p.Asp27His VAR_070143 rs142336618
3 GMPPB p.Arg287Gln VAR_070146 rs202160208
4 GMPPB p.Val330Ile VAR_070147 rs199922550
5 GMPPB p.Pro32Ser VAR_079761
6 GMPPB p.Ser132Cys VAR_079762 rs145535498
7 GMPPB p.Ile219Thr VAR_079763 rs761714818
8 GMPPB p.Pro241Ser VAR_079764
9 GMPPB p.Val254Met VAR_079765 rs875989850
10 GMPPB p.Arg287Trp VAR_079766 rs142908436
11 GMPPB p.Arg293Trp VAR_079767 rs756682220
12 GMPPB p.Val318Ala VAR_079768 rs559784211
13 GMPPB p.Asn322Lys VAR_079769 rs781114909
14 GMPPB p.Gly340Arg VAR_079770
15 GMPPB p.Arg357His VAR_079771 rs771861177

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

6
(show top 50) (show all 64)
# 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_013334.3(GMPPB): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic rs397509424 GRCh37 Chromosome 3, 49761096: 49761096
4 GMPPB NM_013334.3(GMPPB): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic rs397509424 GRCh38 Chromosome 3, 49723663: 49723663
5 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037
6 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh38 Chromosome 3, 49722604: 49722604
7 GMPPB NM_013334.3(GMPPB): c.95C> T (p.Pro32Leu) single nucleotide variant Pathogenic rs397509426 GRCh37 Chromosome 3, 49761065: 49761065
8 GMPPB NM_013334.3(GMPPB): c.95C> T (p.Pro32Leu) single nucleotide variant Pathogenic rs397509426 GRCh38 Chromosome 3, 49723632: 49723632
9 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh37 Chromosome 3, 49761081: 49761081
10 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh38 Chromosome 3, 49723648: 49723648
11 GMPPB NM_013334.3(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Likely pathogenic rs142908436 GRCh37 Chromosome 3, 49759490: 49759490
12 GMPPB NM_013334.3(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Likely pathogenic rs142908436 GRCh38 Chromosome 3, 49722057: 49722057
13 GMPPB NM_013334.3(GMPPB): c.760G> A (p.Val254Met) single nucleotide variant Likely pathogenic rs875989850 GRCh38 Chromosome 3, 49722239: 49722239
14 GMPPB NM_013334.3(GMPPB): c.760G> A (p.Val254Met) single nucleotide variant Likely pathogenic rs875989850 GRCh37 Chromosome 3, 49759672: 49759672
15 GMPPB NM_013334.3(GMPPB): c.308C> T (p.Pro103Leu) single nucleotide variant Pathogenic rs875989851 GRCh37 Chromosome 3, 49760499: 49760499
16 GMPPB NM_013334.3(GMPPB): c.308C> T (p.Pro103Leu) single nucleotide variant Pathogenic rs875989851 GRCh38 Chromosome 3, 49723066: 49723066
17 GMPPB NM_013334.3(GMPPB): c.376C> G (p.His126Asp) single nucleotide variant Benign rs34345884 GRCh38 Chromosome 3, 49722998: 49722998
18 GMPPB NM_013334.3(GMPPB): c.376C> G (p.His126Asp) single nucleotide variant Benign rs34345884 GRCh37 Chromosome 3, 49760431: 49760431
19 GMPPB NM_013334.3(GMPPB): c.330C> T (p.Asp110=) single nucleotide variant Benign rs11547261 GRCh38 Chromosome 3, 49723044: 49723044
20 GMPPB NM_013334.3(GMPPB): c.330C> T (p.Asp110=) single nucleotide variant Benign rs11547261 GRCh37 Chromosome 3, 49760477: 49760477
21 GMPPB NM_013334.3(GMPPB): c.1129G> A (p.Gly377Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184127567 GRCh37 Chromosome 3, 49759220: 49759220
22 GMPPB NM_013334.3(GMPPB): c.1129G> A (p.Gly377Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184127567 GRCh38 Chromosome 3, 49721787: 49721787
23 GMPPB NM_013334.3(GMPPB): c.1098C> T (p.Asn366=) single nucleotide variant Likely benign rs147074020 GRCh37 Chromosome 3, 49759251: 49759251
24 GMPPB NM_013334.3(GMPPB): c.1098C> T (p.Asn366=) single nucleotide variant Likely benign rs147074020 GRCh38 Chromosome 3, 49721818: 49721818
25 GMPPB NM_013334.3(GMPPB): c.960G> A (p.Leu320=) single nucleotide variant Likely benign rs55816606 GRCh37 Chromosome 3, 49759389: 49759389
26 GMPPB NM_013334.3(GMPPB): c.960G> A (p.Leu320=) single nucleotide variant Likely benign rs55816606 GRCh38 Chromosome 3, 49721956: 49721956
27 GMPPB NM_013334.3(GMPPB): c.309T> C (p.Pro103=) single nucleotide variant Likely benign rs147516683 GRCh37 Chromosome 3, 49760498: 49760498
28 GMPPB NM_013334.3(GMPPB): c.309T> C (p.Pro103=) single nucleotide variant Likely benign rs147516683 GRCh38 Chromosome 3, 49723065: 49723065
29 GMPPB NM_013334.3(GMPPB): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs371188899 GRCh38 Chromosome 3, 49721985: 49721985
30 GMPPB NM_013334.3(GMPPB): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs371188899 GRCh37 Chromosome 3, 49759418: 49759418
31 GMPPB NM_021971.2(GMPPB): c.1077C> G (p.Ile359Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 49759191: 49759191
32 GMPPB NM_021971.2(GMPPB): c.1077C> G (p.Ile359Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 49721758: 49721758
33 GMPPB NM_021971.2(GMPPB): c.331G> A (p.Val111Met) single nucleotide variant Uncertain significance rs141201072 GRCh38 Chromosome 3, 49723043: 49723043
34 GMPPB NM_021971.2(GMPPB): c.331G> A (p.Val111Met) single nucleotide variant Uncertain significance rs141201072 GRCh37 Chromosome 3, 49760476: 49760476
35 GMPPB NM_021971.2(GMPPB): c.831C> T (p.Gly277=) single nucleotide variant Uncertain significance rs763262592 GRCh37 Chromosome 3, 49759518: 49759518
36 GMPPB NM_021971.2(GMPPB): c.831C> T (p.Gly277=) single nucleotide variant Uncertain significance rs763262592 GRCh38 Chromosome 3, 49722085: 49722085
37 GMPPB NM_021971.2(GMPPB): c.562-9C> A single nucleotide variant Likely benign rs183240200 GRCh37 Chromosome 3, 49759952: 49759952
38 GMPPB NM_021971.2(GMPPB): c.562-9C> A single nucleotide variant Likely benign rs183240200 GRCh38 Chromosome 3, 49722519: 49722519
39 GMPPB NM_021971.2(GMPPB): c.607_609delAAG (p.Lys203del) deletion Uncertain significance GRCh37 Chromosome 3, 49759896: 49759898
40 GMPPB NM_021971.2(GMPPB): c.607_609delAAG (p.Lys203del) deletion Uncertain significance GRCh38 Chromosome 3, 49722463: 49722465
41 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh37 Chromosome 3, 49760441: 49760442
42 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh38 Chromosome 3, 49723008: 49723009
43 GMPPB NM_021971.2(GMPPB): c.551G> A (p.Arg184Gln) single nucleotide variant Benign rs1466685 GRCh38 Chromosome 3, 49722606: 49722606
44 GMPPB NM_021971.2(GMPPB): c.551G> A (p.Arg184Gln) single nucleotide variant Benign rs1466685 GRCh37 Chromosome 3, 49760039: 49760039
45 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh37 Chromosome 3, 49760131: 49760132
46 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh38 Chromosome 3, 49722698: 49722699
47 GMPPB NM_021971.2(GMPPB): c.130-6T> G single nucleotide variant Likely benign rs369862012 GRCh37 Chromosome 3, 49760911: 49760911
48 GMPPB NM_021971.2(GMPPB): c.130-6T> G single nucleotide variant Likely benign rs369862012 GRCh38 Chromosome 3, 49723478: 49723478
49 GMPPB NM_021971.2(GMPPB): c.374G> A (p.Arg125Gln) single nucleotide variant Uncertain significance rs758366693 GRCh37 Chromosome 3, 49760433: 49760433
50 GMPPB NM_021971.2(GMPPB): c.374G> A (p.Arg125Gln) single nucleotide variant Uncertain significance rs758366693 GRCh38 Chromosome 3, 49723000: 49723000

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

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

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 8.62 GMPPB ISPD

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

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