MCID: MSC100
MIFTS: 31

Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal 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 53 13 73
Lgmd2p 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p 12 53 59 15
Mddgc9 57 12 75
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related 57 53
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related 12 75
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C9 29 6
Muscular Dystrophy, Limb-Girdle, Type 2p 57 53
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9 75
Muscular Dystrophy, Limb-Girdle, Type 2p; Lgmd2p 57
Muscular Dystrophy-Dystroglycanopathy Type C9 12
Dystrophy, Muscular, Limb-Girdle, Type 2p ) 40
Limb-Girdle Muscular Dystrophy Type 2p 53
Muscular Dystrophy Limb-Girdle Type 2p 75

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
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:

32
muscular dystrophy-dystroglycanopathy , type c, 9:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613818
Disease Ontology 12 DOID:0110293
ICD10 33 G71.0
Orphanet 59 ORPHA280333
ICD10 via Orphanet 34 G71.0
MedGen 42 C3151184
MeSH 44 D049288
UMLS 73 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)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 9, also known as lgmd2p, is related to muscular dystrophy-dystroglycanopathy , type c, 4 and autosomal recessive limb-girdle muscular dystrophy type 2e. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 9 is DAG1 (Dystroglycan 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and global developmental delay

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 : 75 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 a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 4 9.7 HNRNPDL TRAPPC11
2 autosomal recessive limb-girdle muscular dystrophy type 2e 9.7 HNRNPDL TRAPPC11
3 muscle eye brain disease 9.7 DAG1 GMPPB
4 muscular dystrophy, limb-girdle, type 1h 9.5 HNRNPDL TNPO3
5 walker-warburg syndrome 9.4 DAG1 GMPPB
6 autosomal dominant limb-girdle muscular dystrophy type 1c 9.4 HNRNPDL TNPO3
7 muscular dystrophy, limb-girdle, type 1b 9.2 HNRNPDL TNPO3
8 autosomal dominant limb-girdle muscular dystrophy type 1g 8.9 HNRNPDL TNPO3 TRAPPC11
9 muscular dystrophy, limb-girdle, type 2q 8.9 HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy, limb-girdle, type 1f 8.9 HNRNPDL TNPO3 TRAPPC11
11 limb-girdle muscular dystrophy 8.8 HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy, limb-girdle, type 2w 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy, limb-girdle, type 2r 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 14 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 7 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy-dystroglycanopathy , type c, 3 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy-dystroglycanopathy , type c, 1 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy-dystroglycanopathy , type c, 2 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
19 muscular dystrophy, limb-girdle, type 1e 8.3 GMPPB HNRNPDL TNPO3 TRAPPC11
20 muscular dystrophy 7.7 DAG1 GMPPB HNRNPDL TNPO3 TRAPPC11

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

Symptoms via clinical synopsis from OMIM:

57
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:
muscle pseudohypertrophy
muscular weakness, limb-girdle (patient a)
difficulty walking and climbing stairs (patient a)
gowers sign (patient a)
dystrophic changes seen on muscle biopsy
more
Head And Neck Head:
small head size (patient a)

Skeletal Limbs:
ankle contractures (patient a)


Clinical features from OMIM:

613818

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 delayed speech and language development 32 HP:0000750
4 elevated serum creatine phosphokinase 32 HP:0003236
5 muscular dystrophy 32 HP:0003560
6 lumbar hyperlordosis 32 HP:0002938
7 ankle contracture 32 HP:0006466
8 gowers sign 32 HP:0003391
9 limb-girdle muscle weakness 32 HP:0003325

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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:

41
Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

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

75
# 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

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

6
(show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 DAG1 NM_001165928.3(DAG1): c.575C> T (p.Thr192Met) single nucleotide variant Pathogenic rs193922955 GRCh37 Chromosome 3, 49568519: 49568519
2 DAG1 NM_001165928.3(DAG1): c.575C> T (p.Thr192Met) single nucleotide variant Pathogenic rs193922955 GRCh38 Chromosome 3, 49531086: 49531086
3 DAG1 NM_004393.5(DAG1): c.258G> C (p.Leu86Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145403829 GRCh37 Chromosome 3, 49548225: 49548225
4 DAG1 NM_004393.5(DAG1): c.258G> C (p.Leu86Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145403829 GRCh38 Chromosome 3, 49510792: 49510792
5 DAG1 NM_004393.5(DAG1): c.1233G> A (p.Val411=) single nucleotide variant Benign/Likely benign rs145765079 GRCh37 Chromosome 3, 49569177: 49569177
6 DAG1 NM_004393.5(DAG1): c.1233G> A (p.Val411=) single nucleotide variant Benign/Likely benign rs145765079 GRCh38 Chromosome 3, 49531744: 49531744
7 DAG1 NM_004393.5(DAG1): c.735G> A (p.Pro245=) single nucleotide variant Uncertain significance rs748164001 GRCh37 Chromosome 3, 49568679: 49568679
8 DAG1 NM_004393.5(DAG1): c.735G> A (p.Pro245=) single nucleotide variant Uncertain significance rs748164001 GRCh38 Chromosome 3, 49531246: 49531246
9 DAG1 NM_001165928.3(DAG1): c.599C> G (p.Thr200Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs41290704 GRCh37 Chromosome 3, 49568543: 49568543
10 DAG1 NM_001165928.3(DAG1): c.599C> G (p.Thr200Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs41290704 GRCh38 Chromosome 3, 49531110: 49531110
11 DAG1 NM_001165928.3(DAG1): c.220G> A (p.Val74Ile) single nucleotide variant Pathogenic rs189360006 GRCh38 Chromosome 3, 49510754: 49510754
12 DAG1 NM_001165928.3(DAG1): c.220G> A (p.Val74Ile) single nucleotide variant Pathogenic rs189360006 GRCh37 Chromosome 3, 49548187: 49548187
13 DAG1 NM_004393.5(DAG1): c.331G> A (p.Asp111Asn) single nucleotide variant Benign rs117209107 GRCh37 Chromosome 3, 49568275: 49568275
14 DAG1 NM_004393.5(DAG1): c.331G> A (p.Asp111Asn) single nucleotide variant Benign rs117209107 GRCh38 Chromosome 3, 49530842: 49530842
15 DAG1 NM_001165928.3(DAG1): c.2231G> C (p.Ser744Thr) single nucleotide variant Benign rs114357468 GRCh37 Chromosome 3, 49570175: 49570175
16 DAG1 NM_001165928.3(DAG1): c.2231G> C (p.Ser744Thr) single nucleotide variant Benign rs114357468 GRCh38 Chromosome 3, 49532742: 49532742
17 DAG1 NM_001165928.3(DAG1): c.384G> T (p.Val128=) single nucleotide variant Benign rs143829263 GRCh38 Chromosome 3, 49530895: 49530895
18 DAG1 NM_001165928.3(DAG1): c.384G> T (p.Val128=) single nucleotide variant Benign rs143829263 GRCh37 Chromosome 3, 49568328: 49568328
19 DAG1 NM_001165928.3(DAG1): c.1308G> A (p.Thr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs143763229 GRCh38 Chromosome 3, 49531819: 49531819
20 DAG1 NM_001165928.3(DAG1): c.1308G> A (p.Thr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs143763229 GRCh37 Chromosome 3, 49569252: 49569252
21 DAG1 NM_001165928.3(DAG1): c.1701C> T (p.Ser567=) single nucleotide variant Benign rs142579425 GRCh38 Chromosome 3, 49532212: 49532212
22 DAG1 NM_001165928.3(DAG1): c.1701C> T (p.Ser567=) single nucleotide variant Benign rs142579425 GRCh37 Chromosome 3, 49569645: 49569645
23 DAG1 NM_001165928.3(DAG1): c.2036G> A (p.Arg679His) single nucleotide variant Likely benign rs113904914 GRCh37 Chromosome 3, 49569980: 49569980
24 DAG1 NM_001165928.3(DAG1): c.2036G> A (p.Arg679His) single nucleotide variant Likely benign rs113904914 GRCh38 Chromosome 3, 49532547: 49532547
25 DAG1 NM_004393.5(DAG1): c.278T> C (p.Ile93Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149218670 GRCh37 Chromosome 3, 49548245: 49548245
26 DAG1 NM_004393.5(DAG1): c.278T> C (p.Ile93Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149218670 GRCh38 Chromosome 3, 49510812: 49510812
27 DAG1 NM_004393.5(DAG1): c.286-10delT deletion Likely benign rs747305463 GRCh37 Chromosome 3, 49568220: 49568220
28 DAG1 NM_004393.5(DAG1): c.286-10delT deletion Likely benign rs747305463 GRCh38 Chromosome 3, 49530787: 49530787
29 DAG1 NM_004393.5(DAG1): c.185C> T (p.Pro62Leu) single nucleotide variant Uncertain significance rs375938350 GRCh37 Chromosome 3, 49548152: 49548152
30 DAG1 NM_004393.5(DAG1): c.185C> T (p.Pro62Leu) single nucleotide variant Uncertain significance rs375938350 GRCh38 Chromosome 3, 49510719: 49510719
31 DAG1 NM_004393.5(DAG1): c.2561G> A (p.Arg854Gln) single nucleotide variant Uncertain significance rs199933395 GRCh37 Chromosome 3, 49570505: 49570505
32 DAG1 NM_004393.5(DAG1): c.2561G> A (p.Arg854Gln) single nucleotide variant Uncertain significance rs199933395 GRCh38 Chromosome 3, 49533072: 49533072
33 DAG1 NM_004393.5(DAG1): c.1046C> T (p.Pro349Leu) single nucleotide variant Uncertain significance rs200233956 GRCh37 Chromosome 3, 49568990: 49568990
34 DAG1 NM_004393.5(DAG1): c.1046C> T (p.Pro349Leu) single nucleotide variant Uncertain significance rs200233956 GRCh38 Chromosome 3, 49531557: 49531557
35 DAG1 NM_004393.5(DAG1): c.1022C> T (p.Thr341Ile) single nucleotide variant Uncertain significance rs148759919 GRCh37 Chromosome 3, 49568966: 49568966
36 DAG1 NM_004393.5(DAG1): c.1022C> T (p.Thr341Ile) single nucleotide variant Uncertain significance rs148759919 GRCh38 Chromosome 3, 49531533: 49531533
37 DAG1 NM_004393.5(DAG1): c.2520T> C (p.Thr840=) single nucleotide variant Benign/Likely benign rs149564053 GRCh38 Chromosome 3, 49533031: 49533031
38 DAG1 NM_004393.5(DAG1): c.2520T> C (p.Thr840=) single nucleotide variant Benign/Likely benign rs149564053 GRCh37 Chromosome 3, 49570464: 49570464
39 DAG1 NM_004393.5(DAG1): c.1306A> G (p.Thr436Ala) single nucleotide variant Uncertain significance rs149838438 GRCh37 Chromosome 3, 49569250: 49569250
40 DAG1 NM_004393.5(DAG1): c.1306A> G (p.Thr436Ala) single nucleotide variant Uncertain significance rs149838438 GRCh38 Chromosome 3, 49531817: 49531817
41 DAG1 NM_004393.5(DAG1): c.2082C> T (p.Asn694=) single nucleotide variant Conflicting interpretations of pathogenicity rs146453412 GRCh37 Chromosome 3, 49570026: 49570026
42 DAG1 NM_004393.5(DAG1): c.2082C> T (p.Asn694=) single nucleotide variant Conflicting interpretations of pathogenicity rs146453412 GRCh38 Chromosome 3, 49532593: 49532593
43 DAG1 NM_004393.5(DAG1): c.2313C> T (p.Ala771=) single nucleotide variant Conflicting interpretations of pathogenicity rs764289801 GRCh37 Chromosome 3, 49570257: 49570257
44 DAG1 NM_004393.5(DAG1): c.2313C> T (p.Ala771=) single nucleotide variant Conflicting interpretations of pathogenicity rs764289801 GRCh38 Chromosome 3, 49532824: 49532824
45 DAG1 NM_004393.5(DAG1): c.1051A> G (p.Thr351Ala) single nucleotide variant Uncertain significance rs376991799 GRCh37 Chromosome 3, 49568995: 49568995
46 DAG1 NM_004393.5(DAG1): c.1051A> G (p.Thr351Ala) single nucleotide variant Uncertain significance rs376991799 GRCh38 Chromosome 3, 49531562: 49531562
47 DAG1 NM_001165928.3(DAG1): c.1257delT (p.Thr421Glnfs) deletion Likely pathogenic rs886044452 GRCh37 Chromosome 3, 49569201: 49569201
48 DAG1 NM_001165928.3(DAG1): c.1257delT (p.Thr421Glnfs) deletion Likely pathogenic rs886044452 GRCh38 Chromosome 3, 49531768: 49531768
49 DAG1 NM_004393.5(DAG1): c.1307C> T (p.Thr436Met) single nucleotide variant Uncertain significance rs143573515 GRCh37 Chromosome 3, 49569251: 49569251
50 DAG1 NM_004393.5(DAG1): c.1307C> T (p.Thr436Met) single nucleotide variant Uncertain significance rs143573515 GRCh38 Chromosome 3, 49531818: 49531818

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

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

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 9

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