MDDGC14
MCID: MSC098
MIFTS: 39

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 56 52 73 29 6 71
Lgmd2t 56 12 52 58 73
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t 12 52 58 15
Mddgc14 56 12 73
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related 56 52
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related 12 73
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19 56 73
Muscular Dystrophy Limb-Girdle Type 2t 12 73
Lgmdr19 56 73
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19; Lgmdr19 56
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14 73
Muscular Dystrophy, Limb-Girdle, Type 2t; Lgmd2t 56
Muscular Dystrophy-Dystroglycanopathy Type C14 12
Dystrophy, Muscular, Limb-Girdle, Type 2t 39
Muscular Dystrophy, Limb-Girdle, Type 2t 56
Limb-Girdle Muscular Dystrophy Type 2t 52

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive limb-girdle muscular dystrophy type 2t
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

OMIM : 56 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), and among its related pathways/superpathways is N-Glycan biosynthesis. Related phenotypes are intellectual disability and seizures

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 : 73 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
Congenital Muscular Dystrophy-Dystroglycanopathy Type a Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9
Congenital Muscular Dystrophy-Dystroglycanopathy A14 Congenital Muscular Dystrophy-Dystroglycanopathy A7
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.9 TRAPPC11 TNPO3 ANO5
2 muscular dystrophy 28.2 TRAPPC11 TNPO3 LIMS2 GMPPB DES ANO5
3 congenital myasthenic syndrome 10.4
4 muscular dystrophy-dystroglycanopathy , type c, 1 10.1 GMPPB ANO5
5 congenital myasthenic syndromes with glycosylation defect 10.1 GMPPB ALG14
6 muscular dystrophy-dystroglycanopathy , type c, 3 10.0 GMPPB ANO5
7 spinocerebellar ataxia, autosomal recessive 10 10.0 ANO5 ALG14
8 neuromuscular junction disease 10.0 GMPPB ALG14
9 fructose intolerance, hereditary 9.9 ANO5 ALG14
10 muscular dystrophy, limb-girdle, autosomal dominant 2 9.9 TNPO3 ANO5
11 cardiomyopathy, dilated, 1g 9.9 TRAPPC11 LIMS2 GANC
12 bethlem myopathy 1 9.9 GMPPB ANO5
13 autosomal dominant limb-girdle muscular dystrophy 9.8 TNPO3 ANO5
14 autosomal recessive limb-girdle muscular dystrophy type 2x 9.8 LIMS2 GMPPB ANO5
15 muscular dystrophy, congenital, lmna-related 9.8 TRAPPC11 GMPPB ANO5
16 noonan syndrome 3 9.6 TNPO3 DES
17 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 TRAPPC11 LIMS2 GMPPB ANO5
18 autosomal recessive limb-girdle muscular dystrophy 9.5 TRAPPC11 DES ANO5
19 muscular dystrophy, limb-girdle, type 1h 9.5 TRAPPC11 TNPO3 LIMS2 GANC
20 miyoshi muscular dystrophy 9.4 DES ANO5
21 neuromuscular disease 9.4 GMPPB DES ALG14
22 muscular dystrophy, limb-girdle, autosomal dominant 1 9.3 TNPO3 DES ANO5
23 muscular dystrophy-dystroglycanopathy , type c, 9 9.3 TRAPPC11 LIMS2 GMPPB GANC ANO5
24 myofibrillar myopathy 9.2 DES ANO5
25 muscular dystrophy, limb-girdle, autosomal recessive 2 9.2 TRAPPC11 LIMS2 GMPPB GANC ANO5
26 autosomal recessive limb-girdle muscular dystrophy type 2q 9.2 TRAPPC11 TNPO3 LIMS2 GMPPB ANO5
27 muscular dystrophy, limb-girdle, autosomal dominant 3 9.1 TRAPPC11 TNPO3 LIMS2 GANC ANO5
28 autosomal recessive limb-girdle muscular dystrophy type 2w 8.9 TRAPPC11 TNPO3 LIMS2 GMPPB GANC ANO5
29 muscular dystrophy-dystroglycanopathy , type c, 7 8.8 TRAPPC11 LIMS2 GMPPB GANC GANAB ANO5

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

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

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 58 31 occasional (7.5%) Frequent (79-30%) HP:0001250
3 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
6 elevated serum creatine kinase 31 frequent (33%) HP:0003236
7 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
8 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
9 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
10 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
11 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
12 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
13 proximal muscle weakness in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0008997
14 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
15 fatigable weakness of bulbar muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030192
16 axial muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003327
17 exercise intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003546
18 neck muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000467
19 distal lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009053
20 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003403
21 distal upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008959
22 dilatation of the ventricular cavity 58 31 occasional (7.5%) Occasional (29-5%) HP:0006698
23 intellectual disability, mild 31 occasional (7.5%) HP:0001256
24 motor delay 31 occasional (7.5%) HP:0001270
25 muscle spasm 31 occasional (7.5%) HP:0003394
26 muscle weakness 58 Occasional (29-5%)
27 elevated serum creatine phosphokinase 58 Frequent (79-30%)
28 generalized hypotonia 31 HP:0001290
29 muscle cramps 58 Occasional (29-5%)
30 proximal muscle weakness 31 HP:0003701
31 muscular dystrophy 31 HP:0003560
32 lower limb muscle weakness 58 Occasional (29-5%)
33 hypoglycosylation of alpha-dystroglycan 31 HP:0030046

Symptoms via clinical synopsis from OMIM:

56
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

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

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 14:

# Title Authors PMID Year
1
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 56 6
26133662 2015
2
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 6 56
23768512 2013
3
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 61
27874200 2017
4
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 61
27766311 2016
5
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

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

6 (show top 50) (show all 62) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GMPPB NM_013334.3(GMPPB):c.64C>T (p.Pro22Ser)SNV Pathogenic 60542 rs397509424 3:49761096-49761096 3:49723663-49723663
2 GMPPB NM_013334.3(GMPPB):c.860G>A (p.Arg287Gln)SNV Pathogenic 60545 rs202160208 3:49759489-49759489 3:49722056-49722056
3 GMPPB NM_013334.3(GMPPB):c.79G>C (p.Asp27His)SNV Pathogenic 60546 rs142336618 3:49761081-49761081 3:49723648-49723648
4 GMPPB NM_013334.3(GMPPB):c.308C>T (p.Pro103Leu)SNV Pathogenic 225927 rs875989851 3:49760499-49760499 3:49723066-49723066
5 GMPPB NM_013334.3(GMPPB):c.365_366dup (p.Phe123fs)duplication Pathogenic 474016 rs1553691975 3:49760441-49760442 3:49723008-49723009
6 GMPPB NM_013334.3(GMPPB):c.456_457CA[1] (p.Thr153fs)short repeat Pathogenic 474017 rs1553691918 3:49760131-49760132 3:49722698-49722699
7 GMPPB NM_021971.2(GMPPB):c.656T>C (p.Ile219Thr)SNV Pathogenic 575991 3:49759776-49759776 3:49722343-49722343
8 GMPPB NM_021971.2(GMPPB):c.790C>T (p.Gln264Ter)SNV Pathogenic 571713 3:49759559-49759559 3:49722126-49722126
9 GMPPB NM_013334.3(GMPPB):c.271_283del (p.Ala91fs)deletion Pathogenic 663873 3:49760524-49760536 3:49723093-49723105
10 GMPPB NM_021971.2:c.109C>TSNV Pathogenic 647358 3:49761051-49761051 3:49723618-49723618
11 GMPPB NM_021971.2(GMPPB):c.1000G>A (p.Asp334Asn)SNV Pathogenic/Likely pathogenic 60540 rs397509422 3:49759268-49759268 3:49721835-49721835
12 GMPPB NM_021971.2(GMPPB):c.859C>T (p.Arg287Trp)SNV Pathogenic/Likely pathogenic 225925 rs142908436 3:49759490-49759490 3:49722057-49722057
13 GMPPB NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys)SNV Pathogenic/Likely pathogenic 60543 rs397509425 3:49760037-49760037 3:49722604-49722604
14 GMPPB NM_013334.3(GMPPB):c.760G>A (p.Val254Met)SNV Likely pathogenic 225926 rs875989850 3:49759672-49759672 3:49722239-49722239
15 GMPPB NM_021971.2(GMPPB):c.640+1G>ASNV Likely pathogenic 640954 3:49759864-49759864 3:49722431-49722431
16 GMPPB NM_021971.2(GMPPB):c.1070G>A (p.Arg357His)SNV Likely pathogenic 581597 3:49759198-49759198 3:49721765-49721765
17 GMPPB NM_021971.2(GMPPB):c.402+1G>ASNV Likely pathogenic 570106 3:49760404-49760404 3:49722971-49722971
18 GMPPB NM_013334.3(GMPPB):c.95C>T (p.Pro32Leu)SNV Conflicting interpretations of pathogenicity 60544 rs397509426 3:49761065-49761065 3:49723632-49723632
19 GMPPB NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile)SNV Conflicting interpretations of pathogenicity 60547 rs199922550 3:49759280-49759280 3:49721847-49721847
20 GMPPB NM_013334.3(GMPPB):c.1129G>A (p.Gly377Ser)SNV Conflicting interpretations of pathogenicity 288746 rs184127567 3:49759220-49759220 3:49721787-49721787
21 GMPPB NM_013334.3(GMPPB):c.931C>T (p.Arg311Cys)SNV Uncertain significance 451704 rs371188899 3:49759418-49759418 3:49721985-49721985
22 GMPPB NM_021971.2(GMPPB):c.1077C>G (p.Ile359Met)SNV Uncertain significance 474013 rs1553691662 3:49759191-49759191 3:49721758-49721758
23 GMPPB NM_021971.2(GMPPB):c.331G>A (p.Val111Met)SNV Uncertain significance 474015 rs141201072 3:49760476-49760476 3:49723043-49723043
24 GMPPB NM_021971.2(GMPPB):c.831C>T (p.Gly277=)SNV Uncertain significance 474021 rs763262592 3:49759518-49759518 3:49722085-49722085
25 GMPPB NM_013334.3(GMPPB):c.607_609del (p.Lys203del)deletion Uncertain significance 474020 rs1553691853 3:49759896-49759898 3:49722463-49722465
26 GMPPB NM_021971.2(GMPPB):c.374G>A (p.Arg125Gln)SNV Uncertain significance 541078 rs758366693 3:49760433-49760433 3:49723000-49723000
27 GMPPB NM_021971.2(GMPPB):c.218T>C (p.Ile73Thr)SNV Uncertain significance 541076 rs1553692045 3:49760728-49760728 3:49723295-49723295
28 GMPPB NM_021971.2(GMPPB):c.956G>A (p.Arg319His)SNV Uncertain significance 541079 rs768327938 3:49759312-49759312 3:49721879-49721879
29 GMPPB NM_021971.2(GMPPB):c.878G>A (p.Arg293Gln)SNV Uncertain significance 541077 rs748809549 3:49759471-49759471 3:49722038-49722038
30 GMPPB NM_021971.2(GMPPB):c.877C>T (p.Arg293Trp)SNV Uncertain significance 541075 rs756682220 3:49759472-49759472 3:49722039-49722039
31 GMPPB NM_021971.2(GMPPB):c.569C>G (p.Pro190Arg)SNV Uncertain significance 566780 rs1559697016 3:49759936-49759936 3:49722503-49722503
32 GMPPB NM_013334.3(GMPPB):c.287_307del (p.Leu96_Asp102del)deletion Uncertain significance 566671 rs1559697587 3:49760500-49760520 3:49723067-49723087
33 GMPPB NM_021971.2(GMPPB):c.792G>C (p.Gln264His)SNV Uncertain significance 573725 rs1559696652 3:49759557-49759557 3:49722124-49722124
34 GMPPB NM_021971.2(GMPPB):c.629T>C (p.Met210Thr)SNV Uncertain significance 567490 3:49759876-49759876 3:49722443-49722443
35 GMPPB NM_021971.2(GMPPB):c.215G>A (p.Gly72Glu)SNV Uncertain significance 566118 rs1245162935 3:49760731-49760731 3:49723298-49723298
36 GMPPB NM_021971.2(GMPPB):c.1009T>C (p.Tyr337His)SNV Uncertain significance 541074 rs1553691683 3:49759259-49759259 3:49721826-49721826
37 GMPPB NM_013334.3(GMPPB):c.458C>T (p.Thr153Ile)SNV Uncertain significance 638638 3:49760132-49760132 3:49722699-49722699
38 GMPPB NM_021971.2:c.937C>TSNV Uncertain significance 643311 3:49759412-49759412 3:49721979-49721979
39 GMPPB NM_021971.2:c.863G>CSNV Uncertain significance 660239 3:49759486-49759486 3:49722053-49722053
40 GMPPB NM_021971.2:c.812A>GSNV Uncertain significance 645452 3:49759537-49759537 3:49722104-49722104
41 GMPPB NM_021971.2:c.757A>GSNV Uncertain significance 647250 3:49759675-49759675 3:49722242-49722242
42 GMPPB NM_021971.2:c.473G>CSNV Uncertain significance 657979 3:49760117-49760117 3:49722684-49722684
43 GMPPB NM_021971.2:c.395C>GSNV Uncertain significance 640100 3:49760412-49760412 3:49722979-49722979
44 GMPPB NM_021971.2:c.304G>CSNV Uncertain significance 643979 3:49760503-49760503 3:49723070-49723070
45 GMPPB NM_021971.2(GMPPB):c.955C>T (p.Arg319Cys)SNV Uncertain significance 569923 3:49759313-49759313 3:49721880-49721880
46 GMPPB NM_021971.2(GMPPB):c.953T>C (p.Val318Ala)SNV Uncertain significance 570522 3:49759315-49759315 3:49721882-49721882
47 GMPPB NM_021971.2:c.160A>CSNV Uncertain significance 664971 3:49760875-49760875 3:49723442-49723442
48 GMPPB NM_021971.2:c.116A>GSNV Uncertain significance 646328 3:49761044-49761044 3:49723611-49723611
49 GMPPB NM_021971.2(GMPPB):c.62C>A (p.Thr21Asn)SNV Uncertain significance 574966 rs1438380704 3:49761098-49761098 3:49723665-49723665
50 GMPPB NM_021971.2(GMPPB):c.758A>G (p.Asn253Ser)SNV Uncertain significance 581654 rs1559696765 3:49759674-49759674 3:49722241-49722241

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

73 (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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.63 GANAB ALG14

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 hydrolase activity, acting on glycosyl bonds GO:0016798 9.16 GANAB GANC
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.96 GANAB GANC
3 alpha-glucosidase activity GO:0090599 8.62 GANAB GANC

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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