MDDGC1
MCID: MSC104
MIFTS: 49

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 56 52 73 13
Lgmd2k 56 12 52 58 73
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 12 52 58 15
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome 12 52 58
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 29 6 17
Limb-Girdle Muscular Dystrophy Type 2k 52 58 73
Mddgc1 56 12 73
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11 56 73
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 52 58
Muscular Dystrophy, Limb-Girdle, Type 2k 56 71
Pomt1-Related Lgmd R11 52 58
Lgmd Type 2k 52 58
Lgmdr11 56 73
Autosomal Recessive Limb-Girdle Muscular Dystrophy with Mental Retardation 73
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11; Lgmdr11 56
Limb-Girdle Muscular Dystrophy - Intellectual Disability 52
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 73
Muscular Dystrophy, Limb-Girdle, Type 2k; Lgmd2k 56
Muscular Dystrophy-Dystroglycanopathy Type C 1 12
Dystrophy, Muscular, Limb-Girdle, Type 2k 39
Muscular Dystrophy Limb-Girdle Type 2k 12

Characteristics:

Orphanet epidemiological data:

58
pomt1-related limb-girdle muscular dystrophy r11
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

OMIM : 56 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, 14 and muscular dystrophy-dystroglycanopathy , type c, 9. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are difficulty walking and difficulty climbing stairs

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 : 73 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
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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 14 31.4 GMPPB DAG1 ANO5
2 muscular dystrophy-dystroglycanopathy , type c, 9 30.9 MYOT GMPPB DYSF DAG1
3 muscular dystrophy-dystroglycanopathy , type c, 3 29.6 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
4 muscular dystrophy-dystroglycanopathy , type c, 2 28.7 TRIM32 POMT2 POMT1 POMGNT1 GMPPB FKTN
5 muscular dystrophy-dystroglycanopathy , type c, 5 28.6 TRIM32 SGCG POMT2 POMT1 POMGNT1 FKTN
6 muscular dystrophy-dystroglycanopathy , type b, 1 11.2
7 muscular dystrophy-dystroglycanopathy , type c, 8 11.2
8 congenital muscular dystrophy-dystroglycanopathy type a5 10.3 FKRP DAG1
9 cardiomyopathy, dilated, 1x 10.2 FKTN DAG1
10 congenital muscular dystrophy without intellectual disability 10.2 POMT1 FKTN FKRP
11 congenital muscular dystrophy-dystroglycanopathy type a2 10.1 POMT2 POMT1 DPM3
12 congenital muscular dystrophy-dystroglycanopathy type a3 10.1 POMT2 POMGNT1 DPM3
13 muscular dystrophy, limb-girdle, autosomal dominant 3 10.1 MYOT ANO5
14 rippling muscle disease 2 10.1 FKRP DYSF
15 congenital muscular dystrophy due to dystroglycanopathy 10.1 GMPPB FKRP
16 fructose intolerance, hereditary 10.0 DPM3 ANO5
17 congenital muscular dystrophy-dystroglycanopathy a14 10.0 GMPPB DAG1
18 ablepharon-macrostomia syndrome 10.0 POMT1 POMGNT1 FKTN FKRP
19 retinal lattice degeneration 9.9 POMT2 POMT1 FKTN DAG1
20 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 MYOT DYSF
21 peters-plus syndrome 9.9 POMT2 POMT1 POMGNT1 DAG1
22 periventricular nodular heterotopia 9.9 POMT2 POMT1 POMGNT1 FKTN
23 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.8 MYOT FKRP DYSF
24 tibial muscular dystrophy 9.8 MYOT DYSF
25 cardiomyopathy, dilated, 1d 9.8 POMT2 POMT1 POMGNT1 FKRP DAG1
26 autosomal dominant limb-girdle muscular dystrophy 9.8 MYOT DYSF
27 muscular dystrophy-dystroglycanopathy , type c, 7 9.8 GMPPB FKTN ANO5
28 muscular dystrophy, duchenne type 9.7 SGCD FKTN DAG1
29 congenital muscular dystrophy with intellectual disability 9.7 POMT2 POMT1 GMPPB FKRP
30 miyoshi muscular dystrophy 3 9.7 SGCD DYSF ANO5
31 myopathy, spheroid body 9.7 TRIM32 MYOT
32 congenital disorder of glycosylation, type in 9.7 POMT2 POMT1 POMGNT1 DPM3 DAG1
33 x-linked recessive disease 9.7 SGCG DYSF DAG1
34 cardiomyopathy, dilated, 3b 9.6 SGCD FKTN DYSF DAG1
35 cobblestone lissencephaly 9.6 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
36 lissencephaly 9.6 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
37 muscular dystrophy-dystroglycanopathy , type a, 1 9.6 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
38 congenital muscular dystrophy with cerebellar involvement 9.6 POMT2 POMT1 POMGNT1 GMPPB FKRP
39 congenital nervous system abnormality 9.5 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
40 muscular dystrophy, limb-girdle, autosomal recessive 8 9.5 TRIM32 FKRP DYSF
41 autosomal recessive limb-girdle muscular dystrophy type 2w 9.5 POMT2 MYOT GMPPB ANO5
42 hydrophthalmos 9.5 POMT2 POMT1 POMGNT1 FKTN DPM3 DAG1
43 muscular dystrophy, congenital, 1b 9.5 POMGNT1 GMPPB FKTN FKRP DAG1
44 facioscapulohumeral muscular dystrophy 1 9.4 SGCG MYOT FKRP DYSF
45 congenital muscular dystrophy-dystroglycanopathy type a1 9.3 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
46 autosomal recessive limb-girdle muscular dystrophy type 2q 9.3 MYOT GMPPB DYSF ANO5
47 autosomal recessive limb-girdle muscular dystrophy type 2x 9.3 MYOT GMPPB DYSF ANO5
48 glaucoma 3, primary congenital, a 9.3 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
49 arrhythmogenic right ventricular cardiomyopathy 9.3 SGCG SGCD DAG1
50 muscular dystrophy, limb-girdle, autosomal recessive 7 9.3 TRIM32 MYOT FKRP DYSF

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

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

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
2 difficulty climbing stairs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003551
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
7 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
8 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
9 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
10 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
11 centrally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003687
12 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
13 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
14 thigh hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003733
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
17 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
18 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
19 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
20 spinal rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003306
21 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
22 type 1 muscle fiber predominance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003803
23 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
24 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
25 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
26 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
27 generalized amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003700
28 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
29 limb-girdle muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003325
30 triceps weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031108
31 flexion contracture 31 HP:0001371
32 dyspnea 58 Occasional (29-5%)
33 motor delay 31 HP:0001270
34 proximal muscle weakness 58 Frequent (79-30%)
35 abnormal test result 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ANO5 DAG1 DPM3 DYSF FKRP FKTN
2 muscle MP:0005369 9.32 ANO5 DAG1 DYSF FKRP FKTN POMGNT1

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:

40
Brain, Eye, Skeletal Muscle, Testes

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

# Title Authors PMID Year
1
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 56 6
22549409 2012
2
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 56 6
15792865 2005
3
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. 6 56
14678799 2003
4
Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. 61 56
20065251 2010
5
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 56
17878207 2007
6
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
7
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. 61
20961758 2011
8
Other limb-girdle muscular dystrophies. 61
21496628 2011
9
Synaptic defects in a Drosophila model of congenital muscular dystrophy. 61
18385336 2008
10
Expanding the clinical spectrum of POMT1 phenotype. 61
16717220 2006

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

6 (show top 50) (show all 218) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMT1 NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)SNV Pathogenic 471374 rs1554780670 9:134393920-134393920 9:131518533-131518533
2 POMT1 NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)SNV Pathogenic 502224 rs765230689 9:134387431-134387431 9:131512044-131512044
3 POMT1 NM_001077365.2(POMT1):c.605+1G>CSNV Pathogenic 538720 rs766648827 9:134385196-134385196 9:131509809-131509809
4 POMT1 NM_001077365.2(POMT1):c.699+62deldeletion Pathogenic 538723 rs1356791510 9:134385445-134385445 9:131510058-131510058
5 POMT1 NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)deletion Pathogenic 594265 rs1564364615 9:134390832-134390833 9:131515445-131515446
6 POMT1 NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)duplication Pathogenic 655295 9:134397437-134397438 9:131522050-131522051
7 POMT1 NM_001077365.2(POMT1):c.606del (p.Ile203fs)deletion Pathogenic 638831 9:134385290-134385290 9:131509903-131509903
8 POMT1 NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)SNV Pathogenic 658622 9:134386846-134386846 9:131511459-131511459
9 POMT1 NM_001077365.2(POMT1):c.1671del (p.Ile557fs)deletion Pathogenic 848752 9:134395552-134395552 9:131520165-131520165
10 POMT1 NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)deletion Pathogenic 864585 9:134382888-134382888 9:131507501-131507501
11 POMT1 NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)duplication Pathogenic 3255 rs398124245 9:134398412-134398413 9:131523025-131523026
12 POMT1 NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)SNV Pathogenic 39434 rs397514501 9:134384300-134384300 9:131508913-131508913
13 POMT1 NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met)SNV Pathogenic 39435 rs397515400 9:134388718-134388718 9:131513331-131513331
14 POMT1 NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)SNV Pathogenic 3243 rs119462982 9:134385188-134385188 9:131509801-131509801
15 POMT1 NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)SNV Pathogenic 95452 rs200056620 9:134388630-134388630 9:131513243-131513243
16 POMT1 NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)SNV Pathogenic 194859 rs794727208 9:134396832-134396832 9:131521445-131521445
17 POMT1 NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)SNV Pathogenic/Likely pathogenic 194962 rs149682171 9:134397500-134397500 9:131522113-131522113
18 POMT1 NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)SNV Pathogenic/Likely pathogenic 3250 rs119462987 9:134397547-134397547 9:131522160-131522160
19 POMT1 NM_001077365.2(POMT1):c.174_176CTT[2] (p.Phe60del)short repeat Pathogenic/Likely pathogenic 431953 rs750195040 9:134381551-134381553 9:131506164-131506166
20 POMT1 NM_001077365.2(POMT1):c.1272+2T>CSNV Likely pathogenic 580081 rs1564365317 9:134390911-134390911 9:131515524-131515524
21 POMT1 NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)SNV Likely pathogenic 802520 9:134398441-134398441 9:131523054-131523054
22 POMT1 NM_001077365.2(POMT1):c.987-2A>CSNV Likely pathogenic 580822 rs1453773610 9:134387426-134387426 9:131512039-131512039
23 POMT1 NM_001077365.2(POMT1):c.1194C>A (p.Pro398=)SNV Conflicting interpretations of pathogenicity 598425 rs371653610 9:134390831-134390831 9:131515444-131515444
24 POMT1 NM_001077365.2(POMT1):c.1698+1G>ASNV Conflicting interpretations of pathogenicity 631540 rs763586263 9:134395581-134395581 9:131520194-131520194
25 POMT1 NM_001077365.2(POMT1):c.1698+10C>ASNV Conflicting interpretations of pathogenicity 498350 rs184131819 9:134395590-134395590 9:131520203-131520203
26 POMT1 NM_001077365.2(POMT1):c.927C>T (p.Asn309=)SNV Conflicting interpretations of pathogenicity 538728 rs753694905 9:134386795-134386795 9:131511408-131511408
27 POMT1 NM_001077365.2(POMT1):c.280+7_280+8deldeletion Conflicting interpretations of pathogenicity 436374 rs561658895 9:134381846-134381847 9:131506459-131506460
28 POMT1 NM_001077365.2(POMT1):c.1671T>C (p.Ile557=)SNV Conflicting interpretations of pathogenicity 497189 rs200969468 9:134395553-134395553 9:131520166-131520166
29 POMT1 NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)SNV Conflicting interpretations of pathogenicity 499640 rs778418119 9:134398346-134398346 9:131522959-131522959
30 POMT1 NM_001077365.2(POMT1):c.1365+15C>TSNV Conflicting interpretations of pathogenicity 95457 rs58896330 9:134393939-134393939 9:131518552-131518552
31 POMT1 NM_001077365.2(POMT1):c.1416C>T (p.Val472=)SNV Conflicting interpretations of pathogenicity 95458 rs139687326 9:134394274-134394274 9:131518887-131518887
32 POMT1 NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)SNV Conflicting interpretations of pathogenicity 95459 rs117985576 9:134394788-134394788 9:131519401-131519401
33 POMT1 NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)SNV Conflicting interpretations of pathogenicity 95462 rs76092524 9:134398430-134398430 9:131523043-131523043
34 POMT1 NM_001077365.2(POMT1):c.42C>T (p.Asp14=)SNV Conflicting interpretations of pathogenicity 195272 rs150937126 9:134379647-134379647 9:131504260-131504260
35 POMT1 NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)SNV Conflicting interpretations of pathogenicity 195503 rs138902646 9:134398412-134398412 9:131523025-131523025
36 POMT1 NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)SNV Conflicting interpretations of pathogenicity 195505 rs138902646 9:134398412-134398412 9:131523025-131523025
37 POMT1 NM_001077365.2(POMT1):c.129C>T (p.Asp43=)SNV Conflicting interpretations of pathogenicity 196451 rs200465419 9:134381507-134381507 9:131506120-131506120
38 POMT1 NM_001077365.2(POMT1):c.986+9A>GSNV Conflicting interpretations of pathogenicity 211944 rs202095070 9:134386863-134386863 9:131511476-131511476
39 POMT1 NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)SNV Conflicting interpretations of pathogenicity 162591 rs150367385 9:134394834-134394834 9:131519447-131519447
40 POMT1 NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)SNV Conflicting interpretations of pathogenicity 211947 rs147143094 9:134398493-134398493 9:131523106-131523106
41 POMT1 NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)SNV Conflicting interpretations of pathogenicity 218515 rs377304621 9:134393862-134393862 9:131518475-131518475
42 POMT1 NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)SNV Conflicting interpretations of pathogenicity 260143 rs144338642 9:134396761-134396761 9:131521374-131521374
43 POMT1 NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)SNV Conflicting interpretations of pathogenicity 260145 rs140553130 9:134397594-134397594 9:131522207-131522207
44 POMT1 NM_001077365.2(POMT1):c.568C>T (p.Leu190=)SNV Conflicting interpretations of pathogenicity 281263 rs752931210 9:134385158-134385158 9:131509771-131509771
45 POMT1 NM_001077365.2(POMT1):c.1149C>T (p.His383=)SNV Conflicting interpretations of pathogenicity 281283 rs202121299 9:134388692-134388692 9:131513305-131513305
46 POMT1 NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)SNV Conflicting interpretations of pathogenicity 285055 rs146869947 9:134388669-134388669 9:131513282-131513282
47 POMT1 NM_001077365.2(POMT1):c.330C>G (p.Leu110=)SNV Conflicting interpretations of pathogenicity 283974 rs138064523 9:134382804-134382804 9:131507417-131507417
48 POMT1 NM_001077365.2(POMT1):c.846C>T (p.Ala282=)SNV Conflicting interpretations of pathogenicity 286100 rs886043307 9:134385793-134385793 9:131510406-131510406
49 POMT1 NM_001077365.2(POMT1):c.2067C>T (p.His689=)SNV Conflicting interpretations of pathogenicity 288187 rs141895982 9:134398382-134398382 9:131522995-131522995
50 POMT1 NM_001077365.2(POMT1):c.2058C>T (p.Ser686=)SNV Conflicting interpretations of pathogenicity 288600 rs886043948 9:134398373-134398373 9:131522986-131522986

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

73
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Ala200Pro VAR_022661 rs119462982

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
Show member pathways
11.7 SGCG SGCD DAG1
2
Show member pathways
11.52 SGCG SGCD DAG1
3
Show member pathways
11.52 POMT2 POMT1 POMGNT1 DAG1
4 10.38 POMT2 POMT1 POMGNT1 FKTN FKRP

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

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.15 SGCG SGCD POMT2 POMT1 POMGNT1 MYOT
2 integral component of membrane GO:0016021 10 SGCG SGCD POMT2 POMT1 POMGNT1 FKTN
3 endoplasmic reticulum GO:0005783 9.88 POMT2 POMT1 FKTN FKRP DPM3 ANO5
4 dystrophin-associated glycoprotein complex GO:0016010 9.32 SGCD DAG1
5 sarcoglycan complex GO:0016012 9.16 SGCG SGCD
6 dystroglycan complex GO:0016011 9.13 SGCG SGCD DAG1
7 sarcolemma GO:0042383 9.1 SGCG SGCD MYOT FKRP DYSF DAG1

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.5 SGCG SGCD FKTN
2 skeletal muscle tissue regeneration GO:0043403 9.46 DYSF DAG1
3 protein O-linked glycosylation GO:0006493 9.46 POMT2 POMT1 POMGNT1 FKTN
4 cardiac muscle tissue development GO:0048738 9.43 SGCG SGCD
5 protein glycosylation GO:0006486 9.43 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
6 mannosylation GO:0097502 9.4 POMT2 POMT1
7 heart contraction GO:0060047 9.37 SGCG SGCD
8 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
9 protein O-linked mannosylation GO:0035269 9.02 POMT2 POMT1 FKTN FKRP DPM3

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.7 TRIM32 POMT2 POMT1 POMGNT1 GMPPB FKTN
2 transferase activity, transferring glycosyl groups GO:0016757 9.58 POMT2 POMT1 POMGNT1
3 structural constituent of muscle GO:0008307 9.37 MYOT DAG1
4 mannosyltransferase activity GO:0000030 9.32 POMT2 POMT1
5 alpha-actinin binding GO:0051393 9.26 MYOT DAG1
6 dystroglycan binding GO:0002162 8.96 FKRP DAG1
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT2 POMT1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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