MDDGC2
MCID: MSC108
MIFTS: 47

Muscular Dystrophy-Dystroglycanopathy , Type C, 2 (MDDGC2)

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, 2

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 2 57 20 72 13 70
Lgmd2n 57 12 20 58 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n 12 20 58 15
Limb-Girdle Muscular Dystrophy Type 2n 20 58 72
Mddgc2 57 12 72
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related 57 20
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related 12 72
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C2 29 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14 57 72
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 20 58
Pomt2-Related Lgmd R14 20 58
Lgmd Type 2n 20 58
Lgmdr14 57 72
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14; Lgmdr14 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 72
Muscular Dystrophy, Limb-Girdle, Type 2n; Lgmd2n 57
Muscular Dystrophy-Dystroglycanopathy Type C 2 12
Dystrophy, Muscular, Limb-Girdle, Type 2n 39
Muscular Dystrophy, Limb-Girdle, Type 2n 57
Mdgd2c 72

Characteristics:

Orphanet epidemiological data:

58
pomt2-related limb-girdle muscular dystrophy r14
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable severity
two patients have been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110298
OMIM® 57 613158
OMIM Phenotypic Series 57 PS253600 PS609308
MeSH 44 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA206559
MedGen 41 C3150418
UMLS 70 C3150418

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

OMIM® : 57 MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal (Biancheri et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (613158) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 2, also known as lgmd2n, is related to congenital muscular dystrophy-dystroglycanopathy a7 and cardiomyopathy, dilated, 1x. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2 is POMT2 (Protein O-Mannosyltransferase 2), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine kinase and limb-girdle muscular dystrophy

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy limb-girdle C2: An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha- dystroglycan. Cognition is normal.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy a7 10.2 FKTN FKRP
2 cardiomyopathy, dilated, 1x 10.2 FKTN DAG1
3 congenital muscular dystrophy-dystroglycanopathy type a5 10.2 FKRP DAG1
4 epidermolysis bullosa simplex with mottled pigmentation 10.1 POMT2 POMT1
5 fukuyama type muscular dystrophy 10.1 FKTN FKRP
6 congenital muscular dystrophy without intellectual disability 10.1 POMT1 FKTN FKRP
7 brazilian hemorrhagic fever 10.1 LARGE2 DAG1
8 congenital muscular dystrophy due to dystroglycanopathy 10.0 GMPPB FKRP
9 congenital muscular dystrophy-dystroglycanopathy type a2 10.0 POMT2 POMT1 DPM3
10 congenital muscular dystrophy-dystroglycanopathy a14 10.0 GMPPB DAG1
11 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 GMPPB DAG1
12 lassa fever 10.0 LARGE2 DAG1
13 paresthesia 9.9 FKRP CAPN3
14 autosomal recessive limb-girdle muscular dystrophy type 2w 9.9 GMPPB ANO5
15 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 GMPPB ANO5
16 limb-girdle muscular dystrophy type 1a 9.9 FKRP CAPN3
17 autosomal recessive limb-girdle muscular dystrophy type 2x 9.9 GMPPB ANO5
18 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 POMT2 POMT1 FKTN FKRP
19 muscular dystrophy, limb-girdle, autosomal recessive 7 9.9 FKRP CAPN3
20 retinal lattice degeneration 9.9 POMT2 POMT1 FKTN DAG1
21 muscular dystrophy, limb-girdle, autosomal recessive 4 9.9 FKRP CAPN3
22 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 GMPPB FKTN FKRP
23 ablepharon-macrostomia syndrome 9.9 POMT1 POMGNT1 FKTN FKRP
24 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 FKRP CAPN3
25 hydrocephalus 9.9 POMT2 POMT1 POMGNT1
26 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 FKRP CAPN3
27 muscular dystrophy, limb-girdle, autosomal dominant 2 9.9 FKRP CAPN3
28 congenital muscular dystrophy-dystroglycanopathy type a3 9.8 POMT2 POMT1 POMGNT1 DPM3
29 peters-plus syndrome 9.8 POMT2 POMT1 POMGNT1 DAG1
30 polyglucosan body myopathy 1 with or without immunodeficiency 9.8 FKRP CAPN3
31 neuromuscular junction disease 9.8 GMPPB DAG1
32 autosomal recessive limb-girdle muscular dystrophy type 2j 9.8 POMT1 FKRP CAPN3
33 congenital disorder of glycosylation, type in 9.8 POMT2 POMT1 DPM3 DAG1
34 congenital muscular dystrophy with intellectual disability 9.8 POMT2 POMT1 GMPPB FKRP
35 miyoshi muscular dystrophy 3 9.8 CAPN3 ANO5
36 muscular dystrophy-dystroglycanopathy , type c, 14 9.8 GMPPB DAG1 ANO5
37 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 FKRP DAG1 CAPN3
38 nonaka myopathy 9.7 FKRP DAG1 CAPN3
39 muscular dystrophy, congenital, 1b 9.7 GMPPB FKTN FKRP DAG1
40 congenital nervous system abnormality 9.7 POMT2 POMT1 POMGNT1 FKTN DAG1
41 cardiomyopathy, dilated, 1d 9.7 POMT2 POMT1 POMGNT1 FKRP DAG1
42 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 FKRP CAPN3 ANO5
43 autosomal recessive limb-girdle muscular dystrophy type 2g 9.7 FKRP CAPN3 ANO5
44 glycogen storage disease ii 9.7 FKRP CAPN3 ANO5
45 tibial muscular dystrophy 9.7 FKRP CAPN3 ANO5
46 hydrophthalmos 9.7 POMT2 POMT1 FKTN DPM3 DAG1
47 congenital muscular dystrophy with cerebellar involvement 9.6 POMT2 POMT1 POMGNT1 GMPPB FKRP
48 muscular dystrophy, becker type 9.6 FKTN FKRP DAG1 CAPN3
49 rigid spine muscular dystrophy 1 9.6 FKTN FKRP DAG1 CAPN3
50 ullrich congenital muscular dystrophy 1 9.6 FKTN FKRP DAG1 CAPN3

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 2

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
2 limb-girdle muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006785
3 reduced muscle fiber alpha dystroglycan 58 31 hallmark (90%) Very frequent (99-80%) HP:0030099
4 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
5 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
6 proximal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007126
7 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
8 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
9 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
10 fatigable weakness of skeletal muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030197
11 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
12 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
13 scapular winging 58 31 occasional (7.5%) Occasional (29-5%) HP:0003691
14 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
15 right bundle branch block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011712
16 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
17 frontal cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006913
18 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
19 left ventricular systolic dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0025169
20 scapuloperoneal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003697
21 motor delay 31 HP:0001270
22 skeletal muscle hypertrophy 31 HP:0003712
23 muscular dystrophy 31 HP:0003560
24 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscular dystrophy
muscle hypertrophy
decreased glycosylation of alpha-dystroglycan
muscle weakness, proximal, mild

Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
delayed motor development
decreased iq (1 patient)
normal cognition (1 patient)

Cardiovascular Heart:
right bundle branch block (1 patient)

Clinical features from OMIM®:

613158 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ANO5 CAPN3 DAG1 FKRP LARGE2 POMGNT1
2 muscle MP:0005369 9.17 ANO5 CAPN3 DAG1 FKRP FKTN POMGNT1

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C2 29 POMT2

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

40
Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

(show all 18)
# Title Authors PMID Year
1
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 6 61 57
17923109 2007
2
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6 57
17878207 2007
3
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 6
30060766 2018
4
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. 6
28980384 2017
5
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
6
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. 6
26495167 2015
7
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 6
24002165 2014
8
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
9
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 6
18752264 2008
10
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
11
IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs. 6
17878297 2007
12
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 6
17634419 2007
13
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 6
15894594 2005
14
Uniparental disomy unveils a novel recessive mutation in POMT2. 61
29759639 2018
15
Limb girdle muscular dystrophy due to mutations in POMT2. 61
29175898 2018
16
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
17
Other limb-girdle muscular dystrophies. 61
21496628 2011
18
Muscular dystrophies due to glycosylation defects. 61
19019316 2008

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

6 (show top 50) (show all 324)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMT2 NM_013382.5(POMT2):c.2243G>C (p.Trp748Ser) SNV Pathogenic 3230 rs267606967 GRCh37: 14:77743729-77743729
GRCh38: 14:77277386-77277386
2 POMT2 NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) SNV Pathogenic 538730 rs147871747 GRCh37: 14:77769186-77769186
GRCh38: 14:77302843-77302843
3 POMT2 NM_013382.5(POMT2):c.1293dup (p.Met432fs) Duplication Pathogenic 538734 rs1555352706 GRCh37: 14:77753125-77753126
GRCh38: 14:77286782-77286783
4 POMT2 NM_013382.5(POMT2):c.248+1G>C SNV Pathogenic 579369 rs961440747 GRCh37: 14:77786776-77786776
GRCh38: 14:77320433-77320433
5 POMT2 NM_013382.5(POMT2):c.673del (p.Trp225fs) Deletion Pathogenic 649496 rs1594796439 GRCh37: 14:77767576-77767576
GRCh38: 14:77301233-77301233
6 POMT2 NM_013382.7(POMT2):c.791del (p.Leu264fs) Deletion Pathogenic 938509 GRCh37: 14:77767458-77767458
GRCh38: 14:77301115-77301115
7 POMT2 NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) SNV Pathogenic 289683 rs775932206 GRCh37: 14:77765080-77765080
GRCh38: 14:77298737-77298737
8 POMT2 NM_013382.5(POMT2):c.1006+1G>A SNV Pathogenic 3219 rs533916138 GRCh37: 14:77765031-77765031
GRCh38: 14:77298688-77298688
9 POMT2 NM_013382.5(POMT2):c.1123_1124dup (p.Tyr376fs) Duplication Pathogenic 282447 rs886042401 GRCh37: 14:77757715-77757716
GRCh38: 14:77291372-77291373
10 POMT2 NM_013382.5(POMT2):c.924-2A>G SNV Pathogenic 289765 rs886044256 GRCh37: 14:77765116-77765116
GRCh38: 14:77298773-77298773
11 POMT2 NM_013382.5(POMT2):c.924-2A>C SNV Pathogenic 449378 rs886044256 GRCh37: 14:77765116-77765116
GRCh38: 14:77298773-77298773
12 POMT2 NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) SNV Pathogenic 95535 rs368817785 GRCh37: 14:77751891-77751891
GRCh38: 14:77285548-77285548
13 POMT2 NM_013382.5(POMT2):c.551C>T (p.Thr184Met) SNV Pathogenic 3229 rs267606971 GRCh37: 14:77769283-77769283
GRCh38: 14:77302940-77302940
14 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
15 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
16 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp) SNV Likely pathogenic 162597 rs727502855 GRCh37: 14:77753158-77753158
GRCh38: 14:77286815-77286815
17 POMT2 NM_013382.7(POMT2):c.1726-1dup Duplication Likely pathogenic 813961 rs1229291913 GRCh37: 14:77746421-77746422
GRCh38: 14:77280078-77280079
18 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp) SNV Likely pathogenic 162597 rs727502855 GRCh37: 14:77753158-77753158
GRCh38: 14:77286815-77286815
19 POMT2 NM_013382.5(POMT2):c.1006+5G>A SNV Likely pathogenic 130015 rs587780422 GRCh37: 14:77765027-77765027
GRCh38: 14:77298684-77298684
20 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp) SNV Likely pathogenic 162597 rs727502855 GRCh37: 14:77753158-77753158
GRCh38: 14:77286815-77286815
21 POMT2 NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) SNV Likely pathogenic 194966 rs794727228 GRCh37: 14:77745146-77745146
GRCh38: 14:77278803-77278803
22 POMT2 NM_013382.5(POMT2):c.881A>G (p.Tyr294Cys) SNV Likely pathogenic 130017 rs587780423 GRCh37: 14:77765840-77765840
GRCh38: 14:77299497-77299497
23 POMT2 NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) Microsatellite Likely pathogenic 538732 rs1555351894 GRCh37: 14:77746394-77746395
GRCh38: 14:77280051-77280052
24 POMT2 NM_013382.5(POMT2):c.1485-2_1485-1del Deletion Likely pathogenic 579922 rs1185491348 GRCh37: 14:77751385-77751386
GRCh38: 14:77285042-77285043
25 POMT2 NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) SNV Uncertain significance 211948 rs550420394 GRCh37: 14:77786877-77786877
GRCh38: 14:77320534-77320534
26 POMT2 NM_013382.5(POMT2):c.242A>G (p.His81Arg) SNV Uncertain significance 580857 rs746662519 GRCh37: 14:77786783-77786783
GRCh38: 14:77320440-77320440
27 POMT2 NM_013382.5(POMT2):c.2148-6T>A SNV Uncertain significance 581413 rs1242617887 GRCh37: 14:77743830-77743830
GRCh38: 14:77277487-77277487
28 POMT2 NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) SNV Uncertain significance 582117 rs768256055 GRCh37: 14:77753119-77753119
GRCh38: 14:77286776-77286776
29 POMT2 NM_013382.5(POMT2):c.334-3C>A SNV Uncertain significance 587446 rs1566658848 GRCh37: 14:77772787-77772787
GRCh38: 14:77306444-77306444
30 POMT2 NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) SNV Uncertain significance 582117 rs768256055 GRCh37: 14:77753119-77753119
GRCh38: 14:77286776-77286776
31 POMT2 NM_013382.5(POMT2):c.642C>A (p.Asn214Lys) SNV Uncertain significance 644886 rs1594797659 GRCh37: 14:77769192-77769192
GRCh38: 14:77302849-77302849
32 POMT2 NM_013382.5(POMT2):c.685C>T (p.Leu229Phe) SNV Uncertain significance 645110 rs754512099 GRCh37: 14:77767564-77767564
GRCh38: 14:77301221-77301221
33 POMT2 NM_013382.5(POMT2):c.1857G>C (p.Met619Ile) SNV Uncertain significance 646201 rs1594885046 GRCh37: 14:77746200-77746200
GRCh38: 14:77279857-77279857
34 POMT2 NM_013382.5(POMT2):c.416A>G (p.His139Arg) SNV Uncertain significance 647612 rs1594800188 GRCh37: 14:77772702-77772702
GRCh38: 14:77306359-77306359
35 POMT2 NM_013382.5(POMT2):c.50G>A (p.Arg17Gln) SNV Uncertain significance 648610 rs753326186 GRCh37: 14:77786975-77786975
GRCh38: 14:77320632-77320632
36 POMT2 NM_013382.5(POMT2):c.2111C>T (p.Ala704Val) SNV Uncertain significance 566007 rs746221148 GRCh37: 14:77744773-77744773
GRCh38: 14:77278430-77278430
37 POMT2 NM_013382.5(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) Indel Uncertain significance 566152 rs1566642523 GRCh37: 14:77744798-77744799
GRCh38: 14:77278455-77278456
38 POMT2 NM_013382.5(POMT2):c.1424G>A (p.Arg475His) SNV Uncertain significance 568071 rs200976246 GRCh37: 14:77751884-77751884
GRCh38: 14:77285541-77285541
39 POMT2 NM_013382.5(POMT2):c.884C>G (p.Thr295Arg) SNV Uncertain significance 570883 rs794727871 GRCh37: 14:77765837-77765837
GRCh38: 14:77299494-77299494
40 POMT2 NM_013382.5(POMT2):c.1604A>T (p.Gln535Leu) SNV Uncertain significance 572027 rs147882035 GRCh37: 14:77750189-77750189
GRCh38: 14:77283846-77283846
41 POMT2 NM_013382.5(POMT2):c.160G>T (p.Ala54Ser) SNV Uncertain significance 572185 rs1239345534 GRCh37: 14:77786865-77786865
GRCh38: 14:77320522-77320522
42 POMT2 NM_013382.5(POMT2):c.1653+4T>G SNV Uncertain significance 573438 rs555289061 GRCh37: 14:77750136-77750136
GRCh38: 14:77283793-77283793
43 POMT2 NM_013382.5(POMT2):c.2182G>A (p.Val728Ile) SNV Uncertain significance 574170 rs1367401943 GRCh37: 14:77743790-77743790
GRCh38: 14:77277447-77277447
44 POMT2 NM_013382.5(POMT2):c.658C>T (p.Pro220Ser) SNV Uncertain significance 577476 rs771201662 GRCh37: 14:77767591-77767591
GRCh38: 14:77301248-77301248
45 POMT2 NM_013382.5(POMT2):c.1552G>A (p.Val518Met) SNV Uncertain significance 538733 rs200762716 GRCh37: 14:77751317-77751317
GRCh38: 14:77284974-77284974
46 POMT2 NM_013382.5(POMT2):c.*1749C>A SNV Uncertain significance 314518 rs543216671 GRCh37: 14:77741970-77741970
GRCh38: 14:77275627-77275627
47 POMT2 NM_013382.5(POMT2):c.1133A>G (p.His378Arg) SNV Uncertain significance 314558 rs867000155 GRCh37: 14:77757707-77757707
GRCh38: 14:77291364-77291364
48 POMT2 NM_013382.5(POMT2):c.*927G>C SNV Uncertain significance 314535 rs886050818 GRCh37: 14:77742792-77742792
GRCh38: 14:77276449-77276449
49 POMT2 NM_013382.5(POMT2):c.*606G>A SNV Uncertain significance 314541 rs141262145 GRCh37: 14:77743113-77743113
GRCh38: 14:77276770-77276770
50 POMT2 NM_013382.5(POMT2):c.*693C>G SNV Uncertain significance 314538 rs752332125 GRCh37: 14:77743026-77743026
GRCh38: 14:77276683-77276683

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

72
# Symbol AA change Variation ID SNP ID
1 POMT2 p.Thr184Met VAR_065037 rs267606971
2 POMT2 p.Trp748Ser VAR_065049 rs267606967

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 2.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 POMT2 POMT1 POMGNT1 LARGE2 GMPPB FKTN
2
Show member pathways
13.12 POMT2 POMT1 POMGNT1 LARGE2 GMPPB DPM3
3
Show member pathways
11.62 POMT2 POMT1 POMGNT1 LARGE2 DAG1
4 10.46 POMT2 POMT1 POMGNT1 LARGE2 FKTN FKRP

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.61 POMT2 POMT1 POMGNT1 LARGE2 FKTN FKRP
2 Golgi membrane GO:0000139 9.46 POMGNT1 LARGE2 FKTN FKRP
3 endoplasmic reticulum GO:0005783 9.1 POMT2 POMT1 FKTN FKRP DPM3 ANO5

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.55 POMT2 POMT1 POMGNT1 LARGE2 FKTN
2 protein glycosylation GO:0006486 9.5 POMT2 POMT1 POMGNT1 LARGE2 FKTN FKRP
3 muscle cell cellular homeostasis GO:0046716 9.37 LARGE2 CAPN3
4 mannosylation GO:0097502 9.32 POMT2 POMT1
5 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
6 protein O-linked mannosylation GO:0035269 9.1 POMT2 POMT1 LARGE2 FKTN FKRP DPM3

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.5 POMT2 POMT1 POMGNT1 LARGE2 GMPPB FKTN
2 structural constituent of muscle GO:0008307 9.37 DAG1 CAPN3
3 mannosyltransferase activity GO:0000030 9.32 POMT2 POMT1
4 dystroglycan binding GO:0002162 9.26 FKRP DAG1
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT2 POMT1
6 transferase activity, transferring glycosyl groups GO:0016757 8.92 POMT2 POMT1 POMGNT1 LARGE2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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29 GTR
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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