MDDGC1
MCID: MSC104
MIFTS: 40

Muscular Dystrophy-Dystroglycanopathy , Type C, 1 (MDDGC1)

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, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 1 57 53 75 13
Lgmd2k 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 12 53 59 15
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome 12 53 59
Mddgc1 57 12 75
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 29 6
Muscular Dystrophy, Limb-Girdle, Type 2k 57 73
Limb-Girdle Muscular Dystrophy Type 2k 53 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy with Mental Retardation 75
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11; Lgmdr11 57
Limb-Girdle Muscular Dystrophy - Intellectual Disability 53
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 75
Muscular Dystrophy, Limb-Girdle, Type 2k; Lgmd2k 57
Muscular Dystrophy-Dystroglycanopathy Type C 1 12
Dystrophy, Muscular, Limb-Girdle, Type 2k ) 40
Muscular Dystrophy Limb-Girdle Type 2k 12
Lgmdr11 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2k
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in infancy or early childhood (birth to 6 years)


HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 1:
Onset and clinical course variable expressivity infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

OMIM : 57 Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, 613155). (609308)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 1, also known as lgmd2k, is related to muscular dystrophy-dystroglycanopathy , type c, 9 and muscular dystrophy-dystroglycanopathy , type c, 14. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. Affiliated tissues include brain, eye and testes, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy limb-girdle C1: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 9 31.0 HNRNPDL TNPO3 TRAPPC11
2 muscular dystrophy-dystroglycanopathy , type c, 14 31.0 HNRNPDL TNPO3 TRAPPC11
3 muscular dystrophy-dystroglycanopathy , type c, 3 30.8 ANO5 HNRNPDL TNPO3 TRAPPC11
4 muscular dystrophy-dystroglycanopathy , type c, 2 30.3 ANO5 HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
5 muscular dystrophy-dystroglycanopathy , type c, 5 11.0
6 muscular dystrophy-dystroglycanopathy , type b, 1 11.0
7 muscular dystrophy-dystroglycanopathy , type c, 8 11.0
8 autosomal recessive limb-girdle muscular dystrophy 10.1 ANO5 POMT1
9 muscular dystrophy-dystroglycanopathy 10.1 POMT1 POMT2
10 congenital muscular dystrophy with intellectual disability 10.1 POMT1 POMT2
11 congenital muscular dystrophy with cerebellar involvement 10.1 POMT1 POMT2
12 muscular dystrophy-dystroglycanopathy , type a, 1 10.0 POMT1 POMT2
13 muscular dystrophy-dystroglycanopathy , type a, 4 10.0 POMT1 POMT2
14 muscular dystrophy-dystroglycanopathy , type b, 6 10.0 POMT1 POMT2
15 muscular dystrophy-dystroglycanopathy , type b, 5 10.0 POMT1 POMT2
16 glaucoma 3, primary congenital, a 10.0 POMT1 POMT2
17 muscle eye brain disease 9.9 POMT1 POMT2
18 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 ANO5 POMT1 POMT2
19 muscular dystrophy, congenital, lmna-related 9.9 POMT1 POMT2
20 muscular dystrophy-dystroglycanopathy , type c, 4 9.9 ANO5 POMT1 POMT2
21 muscular dystrophy, limb-girdle, type 1h 9.9 HNRNPDL TNPO3
22 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 HNRNPDL TNPO3
23 autosomal dominant limb-girdle muscular dystrophy type 1f 9.9 HNRNPDL TNPO3
24 autosomal dominant limb-girdle muscular dystrophy type 1b 9.9 HNRNPDL TNPO3
25 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 HNRNPDL TNPO3
26 muscular disease 9.9 ANO5 POMT1 POMT2
27 walker-warburg syndrome 9.8 POMT1 POMT2
28 autosomal recessive limb-girdle muscular dystrophy type 2w 9.7 HNRNPDL TNPO3 TRAPPC11
29 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 HNRNPDL TNPO3 TRAPPC11
30 muscular dystrophy-dystroglycanopathy , type c, 7 9.7 HNRNPDL TNPO3 TRAPPC11
31 autosomal recessive limb-girdle muscular dystrophy type 2r 9.7 HNRNPDL TNPO3 TRAPPC11
32 muscular dystrophy, limb-girdle, autosomal dominant 1 9.7 HNRNPDL TNPO3 TRAPPC11
33 limb-girdle muscular dystrophy 9.4 ANO5 HNRNPDL POMT1 TNPO3 TRAPPC11
34 muscular dystrophy 9.2 ANO5 HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 1

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
delayed motor development
mental retardation, mild to moderate (in some patients)
no structural brain abnormalities seen on mri

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal:
joint contractures, mild

Muscle Soft Tissue:
easy fatigability
muscle biopsy shows dystrophic changes
muscular weakness, limb-girdle
difficulty walking, running, climbing stairs
muscle pseudohypertrophy
more
Skeletal Spine:
lumbar lordosis
rigid spine

Cardiovascular Heart:
cardiomyopathy (reported in 2 patients)


Clinical features from OMIM:

609308

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
4 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
5 neonatal hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001319
6 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
7 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
8 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
9 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
10 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
11 waddling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002515
12 spinal rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003306
13 easy fatigability 59 32 occasional (7.5%) Occasional (29-5%) HP:0003388
14 type 1 muscle fiber predominance 59 32 occasional (7.5%) Occasional (29-5%) HP:0003803
15 left ventricular hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001712
16 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
17 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
18 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
19 limb-girdle muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003325
20 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
21 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
22 gowers sign 59 32 frequent (33%) Frequent (79-30%) HP:0003391
23 difficulty climbing stairs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003551
24 generalized amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003700
25 centrally nucleated skeletal muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003687
26 calf muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008981
27 lumbar hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0002938
28 impaired visuospatial constructive cognition 59 32 occasional (7.5%) Occasional (29-5%) HP:0010794
29 triceps weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0031108
30 thigh hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003733
31 flexion contracture 32 HP:0001371
32 dyspnea 59 Occasional (29-5%)
33 motor delay 32 HP:0001270
34 proximal muscle weakness 59 Frequent (79-30%)
35 abnormal test result 59 Frequent (79-30%)

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 29 POMT1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

41
Brain, Eye, Testes, Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

75
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Ala200Pro VAR_022661 rs119462982

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

6 (show top 50) (show all 198)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh37 Chromosome 9, 134385188: 134385188
2 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh38 Chromosome 9, 131509801: 131509801
3 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic/Likely pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
4 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic/Likely pathogenic rs119462987 GRCh38 Chromosome 9, 131522160: 131522160
5 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
6 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh38 Chromosome 9, 131523029: 131523029
7 POMT1 NM_007171.3(POMT1): c.430A> G (p.Asn144Asp) single nucleotide variant Pathogenic rs397514501 GRCh37 Chromosome 9, 134384300: 134384300
8 POMT1 NM_007171.3(POMT1): c.430A> G (p.Asn144Asp) single nucleotide variant Pathogenic rs397514501 GRCh38 Chromosome 9, 131508913: 131508913
9 POMT1 NM_007171.3(POMT1): c.1241C> T (p.Thr414Met) single nucleotide variant Pathogenic rs397515400 GRCh37 Chromosome 9, 134388718: 134388718
10 POMT1 NM_007171.3(POMT1): c.1241C> T (p.Thr414Met) single nucleotide variant Pathogenic rs397515400 GRCh38 Chromosome 9, 131513331: 131513331
11 POMT1 NM_007171.3(POMT1): c.1153C> T (p.Gln385Ter) single nucleotide variant Pathogenic rs200056620 GRCh37 Chromosome 9, 134388630: 134388630
12 POMT1 NM_007171.3(POMT1): c.1153C> T (p.Gln385Ter) single nucleotide variant Pathogenic rs200056620 GRCh38 Chromosome 9, 131513243: 131513243
13 POMT1 NM_007171.3(POMT1): c.1299C> A (p.Asp433Glu) single nucleotide variant Benign/Likely benign rs11243406 GRCh37 Chromosome 9, 134390870: 134390870
14 POMT1 NM_007171.3(POMT1): c.1299C> A (p.Asp433Glu) single nucleotide variant Benign/Likely benign rs11243406 GRCh38 Chromosome 9, 131515483: 131515483
15 POMT1 NM_007171.3(POMT1): c.1482C> T (p.Val494=) single nucleotide variant Conflicting interpretations of pathogenicity rs139687326 GRCh37 Chromosome 9, 134394274: 134394274
16 POMT1 NM_007171.3(POMT1): c.1482C> T (p.Val494=) single nucleotide variant Conflicting interpretations of pathogenicity rs139687326 GRCh38 Chromosome 9, 131518887: 131518887
17 POMT1 NM_007171.3(POMT1): c.1565G> A (p.Arg522Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs117985576 GRCh37 Chromosome 9, 134394788: 134394788
18 POMT1 NM_007171.3(POMT1): c.1565G> A (p.Arg522Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs117985576 GRCh38 Chromosome 9, 131519401: 131519401
19 POMT1 NM_007171.3(POMT1): c.2181G> A (p.Ser727=) single nucleotide variant Conflicting interpretations of pathogenicity rs76092524 GRCh37 Chromosome 9, 134398430: 134398430
20 POMT1 NM_007171.3(POMT1): c.2181G> A (p.Ser727=) single nucleotide variant Conflicting interpretations of pathogenicity rs76092524 GRCh38 Chromosome 9, 131523043: 131523043
21 POMT1 NM_007171.3(POMT1): c.2203C> T (p.Arg735Cys) single nucleotide variant Benign/Likely benign rs147266709 GRCh37 Chromosome 9, 134398452: 134398452
22 POMT1 NM_007171.3(POMT1): c.2203C> T (p.Arg735Cys) single nucleotide variant Benign/Likely benign rs147266709 GRCh38 Chromosome 9, 131523065: 131523065
23 POMT1 NM_007171.3(POMT1): c.751C> T (p.Arg251Trp) single nucleotide variant Benign/Likely benign rs3887873 GRCh37 Chromosome 9, 134385435: 134385435
24 POMT1 NM_007171.3(POMT1): c.751C> T (p.Arg251Trp) single nucleotide variant Benign/Likely benign rs3887873 GRCh38 Chromosome 9, 131510048: 131510048
25 POMT1 NM_007171.3(POMT1): c.752G> A (p.Arg251Gln) single nucleotide variant Benign rs2296949 GRCh37 Chromosome 9, 134385436: 134385436
26 POMT1 NM_007171.3(POMT1): c.752G> A (p.Arg251Gln) single nucleotide variant Benign rs2296949 GRCh38 Chromosome 9, 131510049: 131510049
27 POMT1 NM_007171.3(POMT1): c.957G> A (p.Leu319=) single nucleotide variant Benign/Likely benign rs76109289 GRCh37 Chromosome 9, 134386759: 134386759
28 POMT1 NM_007171.3(POMT1): c.957G> A (p.Leu319=) single nucleotide variant Benign/Likely benign rs76109289 GRCh38 Chromosome 9, 131511372: 131511372
29 POMT1 NM_007171.3(POMT1): c.979G> A (p.Val327Ile) single nucleotide variant Benign/Likely benign rs4740164 GRCh37 Chromosome 9, 134386781: 134386781
30 POMT1 NM_007171.3(POMT1): c.979G> A (p.Val327Ile) single nucleotide variant Benign/Likely benign rs4740164 GRCh38 Chromosome 9, 131511394: 131511394
31 POMT1 NM_007171.3(POMT1): c.1191C> T (p.His397=) single nucleotide variant Conflicting interpretations of pathogenicity rs35242383 GRCh37 Chromosome 9, 134388668: 134388668
32 POMT1 NM_007171.3(POMT1): c.1191C> T (p.His397=) single nucleotide variant Conflicting interpretations of pathogenicity rs35242383 GRCh38 Chromosome 9, 131513281: 131513281
33 POMT1 NM_007171.3(POMT1): c.1341A> G (p.Glu447=) single nucleotide variant Benign/Likely benign rs62620174 GRCh37 Chromosome 9, 134393834: 134393834
34 POMT1 NM_007171.3(POMT1): c.1341A> G (p.Glu447=) single nucleotide variant Benign/Likely benign rs62620174 GRCh38 Chromosome 9, 131518447: 131518447
35 POMT1 NM_007171.3(POMT1): c.1545C> T (p.Tyr515=) single nucleotide variant Benign rs62636653 GRCh37 Chromosome 9, 134394337: 134394337
36 POMT1 NM_007171.3(POMT1): c.1545C> T (p.Tyr515=) single nucleotide variant Benign rs62636653 GRCh38 Chromosome 9, 131518950: 131518950
37 POMT1 NM_007171.3(POMT1): c.1758G> A (p.Arg586=) single nucleotide variant Benign rs34954751 GRCh37 Chromosome 9, 134395574: 134395574
38 POMT1 NM_007171.3(POMT1): c.1758G> A (p.Arg586=) single nucleotide variant Benign rs34954751 GRCh38 Chromosome 9, 131520187: 131520187
39 POMT1 NM_007171.3(POMT1): c.1922C> T (p.Ala641Val) single nucleotide variant Benign/Likely benign rs12115566 GRCh37 Chromosome 9, 134397464: 134397464
40 POMT1 NM_007171.3(POMT1): c.1922C> T (p.Ala641Val) single nucleotide variant Benign/Likely benign rs12115566 GRCh38 Chromosome 9, 131522077: 131522077
41 POMT1 NM_007171.3(POMT1): c.78G> A (p.Gly26=) single nucleotide variant Conflicting interpretations of pathogenicity rs149554732 GRCh37 Chromosome 9, 134379683: 134379683
42 POMT1 NM_007171.3(POMT1): c.78G> A (p.Gly26=) single nucleotide variant Conflicting interpretations of pathogenicity rs149554732 GRCh38 Chromosome 9, 131504296: 131504296
43 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150367385 GRCh38 Chromosome 9, 131519447: 131519447
44 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150367385 GRCh37 Chromosome 9, 134394834: 134394834
45 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh37 Chromosome 9, 134395580: 134395580
46 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh38 Chromosome 9, 131520193: 131520193
47 POMT1 NM_007171.3(POMT1): c.1723delC (p.Leu575Trpfs) deletion Pathogenic rs794727190 GRCh37 Chromosome 9, 134395539: 134395539
48 POMT1 NM_007171.3(POMT1): c.1723delC (p.Leu575Trpfs) deletion Pathogenic rs794727190 GRCh38 Chromosome 9, 131520152: 131520152
49 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh37 Chromosome 9, 134396832: 134396832
50 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh38 Chromosome 9, 131521445: 131521445

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 1.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.32 POMT1 POMT2
2 9.97 POMT1 POMT2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.32 POMT1 POMT2
2 protein O-linked glycosylation GO:0006493 9.26 POMT1 POMT2
3 mannosylation GO:0097502 9.16 POMT1 POMT2
4 protein O-linked mannosylation GO:0035269 8.96 POMT1 POMT2
5 positive regulation of protein O-linked glycosylation GO:1904100 8.62 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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