MDDGC9
MCID: MSC100
MIFTS: 43

Muscular Dystrophy-Dystroglycanopathy , Type C, 9 (MDDGC9)

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, 9

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 9:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 9 57 20 72 13 70
Lgmd2p 57 12 20 58 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p 12 20 58 15
Mddgc9 57 12 72
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related 57 20
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related 12 72
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 20 58
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C9 29 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16 57 72
Muscular Dystrophy, Limb-Girdle, Type 2p 57 20
Limb-Girdle Muscular Dystrophy Type 2p 20 58
Alpha-Dystroglycan-Related Lgmd R16 20 58
Lgmd Type 2p 20 58
Lgmdr16 57 72
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16; Lgmdr16 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9 72
Muscular Dystrophy, Limb-Girdle, Type 2p; Lgmd2p 57
Muscular Dystrophy-Dystroglycanopathy Type C9 12
Dystrophy, Muscular, Limb-Girdle, Type 2p 39
Muscular Dystrophy Limb-Girdle Type 2p 72

Characteristics:

Orphanet epidemiological data:

58
alpha-dystroglycan-related limb-girdle muscular dystrophy r16
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
onset in early childhood
two unrelated patients have been reported (last curated august 2015)
patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 9:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110293
OMIM® 57 613818
OMIM Phenotypic Series 57 PS253600 PS609308
MeSH 44 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA280333
MedGen 41 C3151184
UMLS 70 C3151184

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

OMIM® : 57 MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (summary by Hara et al., 2011). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (613818) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 9, also known as lgmd2p, is related to cardiomyopathy, dilated, 3b and congenital muscular dystrophy-dystroglycanopathy a14. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 9 is DAG1 (Dystroglycan 1), and among its related pathways/superpathways are Dilated cardiomyopathy and Arrhythmogenic right ventricular cardiomyopathy. Affiliated tissues include brain and 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 mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy limb-girdle C9: An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with mental retardation without structural brain anomalies.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

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, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 3b 10.1 SGCB DAG1
2 congenital muscular dystrophy-dystroglycanopathy a14 10.1 GMPPB DAG1
3 muscular dystrophy, congenital, 1b 10.1 GMPPB DAG1
4 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 GMPPB DAG1
5 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1 TRAPPC11 SGCB
6 congenital muscular dystrophy-dystroglycanopathy type a 10.0 GMPPB DAG1
7 muscular dystrophy, becker type 10.0 SGCB DAG1
8 neuromuscular junction disease 10.0 GMPPB DAG1
9 muscular dystrophy-dystroglycanopathy , type a, 4 10.0 GMPPB DAG1
10 muscle eye brain disease 9.9 GMPPB DAG1
11 muscular dystrophy-dystroglycanopathy 9.9 SGCB GMPPB DAG1
12 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 SGCB MYOT
13 muscular dystrophy, limb-girdle, autosomal dominant 2 9.9 SGCB MYOT
14 nonaka myopathy 9.8 MYOT DAG1
15 scapuloperoneal syndrome, neurogenic, kaeser type 9.8 MYOT DES
16 autosomal dominant distal myopathy 9.8 MYOT DES
17 central core disease of muscle 9.8 MYOT DES
18 arrhythmogenic right ventricular cardiomyopathy 9.8 SGCB DES DAG1
19 myopathy, spheroid body 9.7 MYOT DES
20 limb-girdle muscular dystrophy 9.7 TRAPPC11 SGCB MYOT
21 muscular disease 9.7 SGCB MYOT DAG1
22 autosomal recessive limb-girdle muscular dystrophy type 2l 9.7 SGCB MYOT DAG1
23 rigid spine muscular dystrophy 1 9.7 MYOT DAG1
24 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 SGCB MYOT DAG1
25 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 SGCB MYOT DAG1
26 myopathy, myofibrillar, 1 9.7 MYOT DES
27 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 SGCB MYOT DAG1
28 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 SGCB MYOT DAG1
29 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 SGCB MYOT DAG1
30 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 SGCB MYOT DAG1
31 muscle tissue disease 9.7 SGCB MYOT DAG1
32 muscular dystrophy, limb-girdle, type 1h 9.7 TRAPPC11 MYOT LIMS2
33 bethlem myopathy 1 9.7 MYOT DAG1
34 autosomal recessive limb-girdle muscular dystrophy type 2x 9.6 MYOT LIMS2 GMPPB
35 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 SGCB MYOT DES
36 congenital myasthenic syndrome 9.6 TRAPPC11 GMPPB DES DAG1
37 muscular dystrophy-dystroglycanopathy , type c, 4 9.5 TRAPPC11 MYOT GMPPB DAG1
38 muscular dystrophy-dystroglycanopathy , type c, 1 9.5 SGCB MYOT GMPPB DAG1
39 isolated elevated serum creatine phosphokinase levels 9.5 SGCB MYOT GMPPB DAG1
40 autosomal recessive limb-girdle muscular dystrophy type 2q 9.4 TRAPPC11 MYOT LIMS2 GMPPB
41 emery-dreifuss muscular dystrophy 9.4 MYOT DES
42 muscular dystrophy-dystroglycanopathy , type c, 3 9.4 TRAPPC11 LIMS2 GMPPB GANC DAG1
43 miyoshi muscular dystrophy 9.4 SGCB MYOT DES DAG1
44 cardiomyopathy, dilated, 1g 9.4 TRAPPC11 SGCB MYOT LIMS2
45 muscular dystrophy, congenital, lmna-related 9.3 TRAPPC11 SGCB MYOT GMPPB DAG1
46 walker-warburg syndrome 9.3 TRAPPC11 SGCB MYOT GMPPB DAG1
47 muscular dystrophy-dystroglycanopathy , type c, 7 9.3 TRAPPC11 LIMS2 GMPPB GANC DES
48 myopathy 9.2 TRAPPC11 SGCB MYOT DES DAG1
49 neuromuscular disease 9.1 SGCB MYOT GMPPB DES DAG1
50 dilated cardiomyopathy 9.1 SGCB MYOT LIMS2 DES DAG1

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 9

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9:

58 31 (show all 22)
# 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 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
5 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
6 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
7 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
8 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
9 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
10 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
11 ankle flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006466
12 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
13 lumbar hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002938
14 gowers sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003391
15 calf muscle pseudohypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003707
16 intellectual disability 31 HP:0001249
17 global developmental delay 31 HP:0001263
18 delayed speech and language development 31 HP:0000750
19 muscular dystrophy 31 HP:0003560
20 difficulty walking 31 HP:0002355
21 hypoglycosylation of alpha-dystroglycan 31 HP:0030046
22 limb-girdle muscle weakness 31 HP:0003325

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
delayed psychomotor development (patient a)
mental retardation (patient a)
poor speech acquisition (patient a)
no structural brain anomalies

Skeletal Spine:
lumbar lordosis (patient a)

Muscle Soft Tissue:
dystrophic changes seen on muscle biopsy
muscle pseudohypertrophy
muscular weakness, limb-girdle (patient a)
difficulty walking and climbing stairs (patient a)
gowers sign (patient a)
more
Head And Neck Head:
small head size (patient a)

Skeletal Limbs:
ankle contractures (patient a)

Clinical features from OMIM®:

613818 (Updated 05-Apr-2021)

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C9 29 DAG1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9:

40
Brain, Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9:

# Title Authors PMID Year
1
DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan. 6 57
25503980 2015
2
A dystroglycan mutation associated with limb-girdle muscular dystrophy. 6 57
21388311 2011
3
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. 57 6
14678799 2003
4
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. 6
29337005 2018
5
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. 6
25934851 2015
6
Skeletal muscle degenerative diseases and strategies for therapeutic muscle repair. 57
23121053 2013
7
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities. 6
20234391 2010
8
The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy. 61
25932631 2015
9
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 9:

6 (show top 50) (show all 190)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DAG1 NC_000003.12:g.(?_49530787)_(49533209_?)del Deletion Pathogenic 832051 GRCh37: 3:49568220-49570642
GRCh38:
2 overlap with 13 genes NC_000003.12:g.(?_49121216)_(49533209_?)del Deletion Pathogenic 833037 GRCh37: 3:49158649-49570642
GRCh38:
3 DAG1 NM_004393.6(DAG1):c.220G>A (p.Val74Ile) SNV Pathogenic 208540 rs189360006 GRCh37: 3:49548187-49548187
GRCh38: 3:49510754-49510754
4 DAG1 NM_004393.6(DAG1):c.235C>T (p.Arg79Ter) SNV Pathogenic 654870 rs1334656238 GRCh37: 3:49548202-49548202
GRCh38: 3:49510769-49510769
5 DAG1 NM_004393.6(DAG1):c.440del (p.Gln147fs) Deletion Pathogenic 539125 rs1553652503 GRCh37: 3:49568384-49568384
GRCh38: 3:49530951-49530951
6 DAG1 NM_004393.6(DAG1):c.285+1G>A SNV Pathogenic 842859 GRCh37: 3:49548253-49548253
GRCh38: 3:49510820-49510820
7 DAG1 NM_004393.6(DAG1):c.330G>A (p.Trp110Ter) SNV Pathogenic 958922 GRCh37: 3:49568274-49568274
GRCh38: 3:49530841-49530841
8 DAG1 NM_004393.6(DAG1):c.575C>T (p.Thr192Met) SNV Pathogenic 31762 rs193922955 GRCh37: 3:49568519-49568519
GRCh38: 3:49531086-49531086
9 DAG1 NM_004393.6(DAG1):c.454_467del (p.Phe152fs) Deletion Likely pathogenic 471776 rs1553652513 GRCh37: 3:49568398-49568411
GRCh38: 3:49530965-49530978
10 DAG1 NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter) SNV Uncertain significance 471771 rs1553653437 GRCh37: 3:49569921-49569921
GRCh38: 3:49532488-49532488
11 DAG1 NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln) SNV Uncertain significance 471772 rs201488118 GRCh37: 3:49570085-49570085
GRCh38: 3:49532652-49532652
12 DAG1 NM_004393.6(DAG1):c.148A>G (p.Met50Val) SNV Uncertain significance 284116 rs758104540 GRCh37: 3:49548115-49548115
GRCh38: 3:49510682-49510682
13 DAG1 NM_004393.6(DAG1):c.1182C>T (p.Gly394=) SNV Uncertain significance 657687 rs758186665 GRCh37: 3:49569126-49569126
GRCh38: 3:49531693-49531693
14 DAG1 NM_004393.6(DAG1):c.1100C>T (p.Thr367Met) SNV Uncertain significance 658300 rs746712913 GRCh37: 3:49569044-49569044
GRCh38: 3:49531611-49531611
15 DAG1 NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln) SNV Uncertain significance 660048 rs1283360967 GRCh37: 3:49570280-49570280
GRCh38: 3:49532847-49532847
16 DAG1 NM_004393.6(DAG1):c.634C>A (p.His212Asn) SNV Uncertain significance 282130 rs146574353 GRCh37: 3:49568578-49568578
GRCh38: 3:49531145-49531145
17 DAG1 NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp) SNV Uncertain significance 661034 rs767648246 GRCh37: 3:49569945-49569945
GRCh38: 3:49532512-49532512
18 DAG1 NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr) SNV Uncertain significance 661282 rs764063699 GRCh37: 3:49569967-49569967
GRCh38: 3:49532534-49532534
19 DAG1 NM_004393.6(DAG1):c.2123C>T (p.Thr708Met) SNV Uncertain significance 597686 rs758254304 GRCh37: 3:49570067-49570067
GRCh38: 3:49532634-49532634
20 DAG1 NM_004393.6(DAG1):c.751del (p.Val251fs) Deletion Uncertain significance 665692 rs1575410881 GRCh37: 3:49568694-49568694
GRCh38: 3:49531261-49531261
21 DAG1 NM_004393.6(DAG1):c.735G>A (p.Pro245=) SNV Uncertain significance 196387 rs748164001 GRCh37: 3:49568679-49568679
GRCh38: 3:49531246-49531246
22 DAG1 NM_004393.6(DAG1):c.2245G>A (p.Val749Ile) SNV Uncertain significance 566811 rs1559581311 GRCh37: 3:49570189-49570189
GRCh38: 3:49532756-49532756
23 DAG1 NM_004393.6(DAG1):c.712A>G (p.Met238Val) SNV Uncertain significance 568274 rs148238809 GRCh37: 3:49568656-49568656
GRCh38: 3:49531223-49531223
24 DAG1 NM_004393.6(DAG1):c.623T>C (p.Ile208Thr) SNV Uncertain significance 497562 rs772976299 GRCh37: 3:49568567-49568567
GRCh38: 3:49531134-49531134
25 DAG1 NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser) SNV Uncertain significance 571453 rs141562264 GRCh37: 3:49570423-49570423
GRCh38: 3:49532990-49532990
26 DAG1 NM_004393.6(DAG1):c.1705C>T (p.His569Tyr) SNV Uncertain significance 571881 rs1559579950 GRCh37: 3:49569649-49569649
GRCh38: 3:49532216-49532216
27 DAG1 NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys) SNV Uncertain significance 572700 rs1436774690 GRCh37: 3:49570532-49570532
GRCh38: 3:49533099-49533099
28 DAG1 NM_004393.6(DAG1):c.2366C>T (p.Ala789Val) SNV Uncertain significance 573390 rs1426926145 GRCh37: 3:49570310-49570310
GRCh38: 3:49532877-49532877
29 DAG1 NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) SNV Uncertain significance 196383 rs376602004 GRCh37: 3:49568909-49568909
GRCh38: 3:49531476-49531476
30 DAG1 NM_004393.6(DAG1):c.2124G>A (p.Thr708=) SNV Uncertain significance 576214 rs140204495 GRCh37: 3:49570068-49570068
GRCh38: 3:49532635-49532635
31 DAG1 NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) SNV Uncertain significance 579120 rs745559790 GRCh37: 3:49568846-49568846
GRCh38: 3:49531413-49531413
32 DAG1 NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys) SNV Uncertain significance 581955 rs142703906 GRCh37: 3:49569487-49569487
GRCh38: 3:49532054-49532054
33 DAG1 NM_004393.6(DAG1):c.23C>T (p.Ser8Leu) SNV Uncertain significance 582771 rs199501149 GRCh37: 3:49547990-49547990
GRCh38: 3:49510557-49510557
34 DAG1 NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) SNV Uncertain significance 374069 rs752813826 GRCh37: 3:49568876-49568876
GRCh38: 3:49531443-49531443
35 DAG1 NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro) SNV Uncertain significance 644419 rs775365808 GRCh37: 3:49570480-49570480
GRCh38: 3:49533047-49533047
36 DAG1 NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu) SNV Uncertain significance 646355 rs200334256 GRCh37: 3:49569791-49569791
GRCh38: 3:49532358-49532358
37 DAG1 NM_004393.6(DAG1):c.576G>A (p.Thr192=) SNV Uncertain significance 646566 rs746894568 GRCh37: 3:49568520-49568520
GRCh38: 3:49531087-49531087
38 DAG1 NM_004393.6(DAG1):c.854C>T (p.Ala285Val) SNV Uncertain significance 647093 rs1235865427 GRCh37: 3:49568798-49568798
GRCh38: 3:49531365-49531365
39 DAG1 NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp) SNV Uncertain significance 649249 rs544574838 GRCh37: 3:49569313-49569313
GRCh38: 3:49531880-49531880
40 DAG1 NM_004393.6(DAG1):c.1829C>T (p.Ala610Val) SNV Uncertain significance 650337 rs537920451 GRCh37: 3:49569773-49569773
GRCh38: 3:49532340-49532340
41 DAG1 NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp) SNV Uncertain significance 651687 rs1223724355 GRCh37: 3:49570286-49570286
GRCh38: 3:49532853-49532853
42 DAG1 NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) SNV Uncertain significance 286590 rs752441031 GRCh37: 3:49570270-49570270
GRCh38: 3:49532837-49532837
43 DAG1 NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys) SNV Uncertain significance 654010 rs147831615 GRCh37: 3:49570579-49570579
GRCh38: 3:49533146-49533146
44 DAG1 NM_004393.6(DAG1):c.552G>A (p.Ala184=) SNV Uncertain significance 849305 GRCh37: 3:49568496-49568496
GRCh38: 3:49531063-49531063
45 DAG1 NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr) SNV Uncertain significance 861070 GRCh37: 3:49569869-49569869
GRCh38: 3:49532436-49532436
46 DAG1 NM_004393.6(DAG1):c.1492_1494del (p.Glu498del) Deletion Uncertain significance 539133 rs1553653093 GRCh37: 3:49569436-49569438
GRCh38: 3:49532003-49532005
47 DAG1 NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala) SNV Uncertain significance 539130 rs376508721 GRCh37: 3:49569433-49569433
GRCh38: 3:49532000-49532000
48 DAG1 NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) SNV Uncertain significance 539129 rs140454570 GRCh37: 3:49548235-49548235
GRCh38: 3:49510802-49510802
49 DAG1 NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) SNV Uncertain significance 539128 rs749962207 GRCh37: 3:49568368-49568368
GRCh38: 3:49530935-49530935
50 DAG1 NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) SNV Uncertain significance 539127 rs1553653701 GRCh37: 3:49570247-49570247
GRCh38: 3:49532814-49532814

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 9:

72
# Symbol AA change Variation ID SNP ID
1 DAG1 p.Thr192Met VAR_065266 rs193922955
2 DAG1 p.Val74Ile VAR_075809 rs189360006
3 DAG1 p.Asp111Asn VAR_075810 rs117209107

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 9.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.4 SGCB DES DAG1
2 10.98 SGCB DES DAG1

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.43 LIMS2 DES DAG1
2 dystrophin-associated glycoprotein complex GO:0016010 9.16 SGCB DAG1
3 dystroglycan complex GO:0016011 8.96 SGCB DAG1
4 sarcolemma GO:0042383 8.92 SGCB MYOT DES DAG1

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.96 MYOT DAG1
2 alpha-actinin binding GO:0051393 8.62 MYOT DAG1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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