MDDGC14
MCID: MSC098
MIFTS: 36

Muscular Dystrophy-Dystroglycanopathy , Type C, 14 (MDDGC14)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 75 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, Limb-Girdle, Autosomal Recessive 19; Lgmdr19 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19 57
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
Lgmdr19 57

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). Affiliated tissues include eye and brain, and related phenotypes are nystagmus and intellectual disability

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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.7 HNRNPDL TNPO3 TRAPPC11
2 muscular dystrophy 29.1 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11
3 muscular dystrophy-dystroglycanopathy 10.0 GMPPB ISPD
4 bethlem myopathy 1 9.9 GMPPB ISPD
5 muscle eye brain disease 9.9 GMPPB ISPD
6 muscular dystrophy, limb-girdle, type 1h 9.8 HNRNPDL TNPO3
7 autosomal recessive limb-girdle muscular dystrophy type 2q 9.8 HNRNPDL TNPO3
8 walker-warburg syndrome 9.8 GMPPB ISPD
9 autosomal dominant limb-girdle muscular dystrophy type 1f 9.8 HNRNPDL TNPO3
10 autosomal dominant limb-girdle muscular dystrophy type 1b 9.8 HNRNPDL TNPO3
11 autosomal dominant limb-girdle muscular dystrophy type 1c 9.8 HNRNPDL TNPO3
12 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 HNRNPDL TNPO3 TRAPPC11
13 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 3 9.6 HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy-dystroglycanopathy , type c, 9 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
17 autosomal recessive limb-girdle muscular dystrophy type 2r 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy, limb-girdle, autosomal dominant 1 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
19 autosomal recessive limb-girdle muscular dystrophy type 2w 9.3 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11
20 muscular dystrophy-dystroglycanopathy , type c, 7 9.3 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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 59 32 occasional (7.5%) Frequent (79-30%) HP:0001250
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
6 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
9 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
10 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
11 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
12 proximal muscle weakness in upper limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0008997
13 easy fatigability 59 32 occasional (7.5%) Occasional (29-5%) HP:0003388
14 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
15 fatigable weakness of bulbar muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0030192
16 axial muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003327
17 exercise intolerance 59 32 occasional (7.5%) Occasional (29-5%) HP:0003546
18 neck muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000467
19 distal lower limb muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009053
20 difficulty climbing stairs 59 32 frequent (33%) Frequent (79-30%) HP:0003551
21 distal upper limb muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0008959
22 dilatation of the ventricular cavity 59 32 occasional (7.5%) Occasional (29-5%) HP:0006698
23 muscle weakness 59 Occasional (29-5%)
24 intellectual disability, mild 32 occasional (7.5%) HP:0001256
25 motor delay 32 occasional (7.5%) HP:0001270
26 proximal muscle weakness 32 HP:0003701
27 muscular dystrophy 32 HP:0003560
28 generalized hypotonia 32 HP:0001290
29 lower limb muscle weakness 59 Occasional (29-5%)
30 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 59 Occasional (29-5%)
31 hypoglycosylation of alpha-dystroglycan 32 HP:0030046
32 emg 32 occasional (7.5%) HP:0003403

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

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 14:

41
Eye, Brain

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 rs106479683
15 GMPPB p.Arg357His VAR_079771 rs771861177

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

6 (show top 50) (show all 96)
# 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 Conflicting interpretations of pathogenicity rs397509426 GRCh37 Chromosome 3, 49761065: 49761065
8 GMPPB NM_013334.3(GMPPB): c.95C> T (p.Pro32Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397509426 GRCh38 Chromosome 3, 49723632: 49723632
9 GMPPB NM_013334.3(GMPPB): c.860G> A (p.Arg287Gln) single nucleotide variant Pathogenic rs202160208 GRCh37 Chromosome 3, 49759489: 49759489
10 GMPPB NM_013334.3(GMPPB): c.860G> A (p.Arg287Gln) single nucleotide variant Pathogenic rs202160208 GRCh38 Chromosome 3, 49722056: 49722056
11 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh37 Chromosome 3, 49761081: 49761081
12 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh38 Chromosome 3, 49723648: 49723648
13 GMPPB NM_013334.3(GMPPB): c.1069G> A (p.Val357Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199922550 GRCh37 Chromosome 3, 49759280: 49759280
14 GMPPB NM_013334.3(GMPPB): c.1069G> A (p.Val357Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199922550 GRCh38 Chromosome 3, 49721847: 49721847
15 GMPPB NM_021971.2(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Pathogenic/Likely pathogenic rs142908436 GRCh37 Chromosome 3, 49759490: 49759490
16 GMPPB NM_021971.2(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Pathogenic/Likely pathogenic rs142908436 GRCh38 Chromosome 3, 49722057: 49722057
17 GMPPB NM_013334.3(GMPPB): c.760G> A (p.Val254Met) single nucleotide variant Likely pathogenic rs875989850 GRCh38 Chromosome 3, 49722239: 49722239
18 GMPPB NM_013334.3(GMPPB): c.760G> A (p.Val254Met) single nucleotide variant Likely pathogenic rs875989850 GRCh37 Chromosome 3, 49759672: 49759672
19 GMPPB NM_013334.3(GMPPB): c.308C> T (p.Pro103Leu) single nucleotide variant Pathogenic rs875989851 GRCh37 Chromosome 3, 49760499: 49760499
20 GMPPB NM_013334.3(GMPPB): c.308C> T (p.Pro103Leu) single nucleotide variant Pathogenic rs875989851 GRCh38 Chromosome 3, 49723066: 49723066
21 GMPPB NM_013334.3(GMPPB): c.376C> G (p.His126Asp) single nucleotide variant Benign rs34345884 GRCh38 Chromosome 3, 49722998: 49722998
22 GMPPB NM_013334.3(GMPPB): c.376C> G (p.His126Asp) single nucleotide variant Benign rs34345884 GRCh37 Chromosome 3, 49760431: 49760431
23 GMPPB NM_013334.3(GMPPB): c.330C> T (p.Asp110=) single nucleotide variant Benign rs11547261 GRCh38 Chromosome 3, 49723044: 49723044
24 GMPPB NM_013334.3(GMPPB): c.330C> T (p.Asp110=) single nucleotide variant Benign rs11547261 GRCh37 Chromosome 3, 49760477: 49760477
25 GMPPB NM_013334.3(GMPPB): c.1129G> A (p.Gly377Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184127567 GRCh37 Chromosome 3, 49759220: 49759220
26 GMPPB NM_013334.3(GMPPB): c.1129G> A (p.Gly377Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184127567 GRCh38 Chromosome 3, 49721787: 49721787
27 GMPPB NM_013334.3(GMPPB): c.1098C> T (p.Asn366=) single nucleotide variant Likely benign rs147074020 GRCh37 Chromosome 3, 49759251: 49759251
28 GMPPB NM_013334.3(GMPPB): c.1098C> T (p.Asn366=) single nucleotide variant Likely benign rs147074020 GRCh38 Chromosome 3, 49721818: 49721818
29 GMPPB NM_013334.3(GMPPB): c.960G> A (p.Leu320=) single nucleotide variant Likely benign rs55816606 GRCh37 Chromosome 3, 49759389: 49759389
30 GMPPB NM_013334.3(GMPPB): c.960G> A (p.Leu320=) single nucleotide variant Likely benign rs55816606 GRCh38 Chromosome 3, 49721956: 49721956
31 GMPPB NM_013334.3(GMPPB): c.309T> C (p.Pro103=) single nucleotide variant Likely benign rs147516683 GRCh37 Chromosome 3, 49760498: 49760498
32 GMPPB NM_013334.3(GMPPB): c.309T> C (p.Pro103=) single nucleotide variant Likely benign rs147516683 GRCh38 Chromosome 3, 49723065: 49723065
33 GMPPB NM_013334.3(GMPPB): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs371188899 GRCh37 Chromosome 3, 49759418: 49759418
34 GMPPB NM_013334.3(GMPPB): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs371188899 GRCh38 Chromosome 3, 49721985: 49721985
35 GMPPB NM_021971.2(GMPPB): c.1077C> G (p.Ile359Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 49759191: 49759191
36 GMPPB NM_021971.2(GMPPB): c.1077C> G (p.Ile359Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 49721758: 49721758
37 GMPPB NM_021971.2(GMPPB): c.331G> A (p.Val111Met) single nucleotide variant Uncertain significance rs141201072 GRCh38 Chromosome 3, 49723043: 49723043
38 GMPPB NM_021971.2(GMPPB): c.331G> A (p.Val111Met) single nucleotide variant Uncertain significance rs141201072 GRCh37 Chromosome 3, 49760476: 49760476
39 GMPPB NM_021971.2(GMPPB): c.831C> T (p.Gly277=) single nucleotide variant Uncertain significance rs763262592 GRCh37 Chromosome 3, 49759518: 49759518
40 GMPPB NM_021971.2(GMPPB): c.831C> T (p.Gly277=) single nucleotide variant Uncertain significance rs763262592 GRCh38 Chromosome 3, 49722085: 49722085
41 GMPPB NM_021971.2(GMPPB): c.562-9C> A single nucleotide variant Likely benign rs183240200 GRCh38 Chromosome 3, 49722519: 49722519
42 GMPPB NM_021971.2(GMPPB): c.562-9C> A single nucleotide variant Likely benign rs183240200 GRCh37 Chromosome 3, 49759952: 49759952
43 GMPPB NM_021971.2(GMPPB): c.607_609delAAG (p.Lys203del) deletion Uncertain significance GRCh38 Chromosome 3, 49722463: 49722465
44 GMPPB NM_021971.2(GMPPB): c.607_609delAAG (p.Lys203del) deletion Uncertain significance GRCh37 Chromosome 3, 49759896: 49759898
45 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh38 Chromosome 3, 49723008: 49723009
46 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh37 Chromosome 3, 49760441: 49760442
47 GMPPB NM_021971.2(GMPPB): c.551G> A (p.Arg184Gln) single nucleotide variant Benign rs1466685 GRCh38 Chromosome 3, 49722606: 49722606
48 GMPPB NM_021971.2(GMPPB): c.551G> A (p.Arg184Gln) single nucleotide variant Benign rs1466685 GRCh37 Chromosome 3, 49760039: 49760039
49 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh37 Chromosome 3, 49760131: 49760132
50 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh38 Chromosome 3, 49722698: 49722699

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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