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
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
Limb-Girdle Muscular Dystrophy Type 2k 52 73
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 Metabolism and Metabolism of proteins. 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 77)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 14 31.9 GMPPB ANO5
2 muscular dystrophy-dystroglycanopathy , type c, 9 31.0 MYOT GMPPB DAG1 ANO5
3 muscular dystrophy-dystroglycanopathy , type c, 5 30.2 TRIM32 POMT2 POMT1 POMGNT1 FKTN FKRP
4 muscular dystrophy-dystroglycanopathy , type c, 2 29.8 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
5 muscular dystrophy-dystroglycanopathy , type c, 3 28.9 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
6 muscular dystrophy-dystroglycanopathy , type b, 1 11.2
7 muscular dystrophy-dystroglycanopathy , type c, 8 11.2
8 muscular dystrophy, limb-girdle, autosomal recessive 8 10.1 TRIM32 FKRP
9 cerebral degeneration 10.1 POMT1 POMGNT1 FKTN
10 fructose intolerance, hereditary 10.1 DPM3 ANO5
11 kahrizi syndrome 10.0 DPM3 DOLK
12 ablepharon-macrostomia syndrome 10.0 POMT1 POMGNT1 FKTN FKRP
13 peters-plus syndrome 10.0 POMT2 POMT1 POMGNT1
14 ullrich congenital muscular dystrophy 1 9.9 POMT2 POMGNT1 FKTN FKRP
15 retinal lattice degeneration 9.9 POMT2 POMT1 FKTN DAG1
16 congenital muscular dystrophy with intellectual disability 9.9 POMT2 POMT1 GMPPB FKRP
17 myopathy, spheroid body 9.8 TRIM32 MYOT
18 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 TRIM32 SGCD FKRP
19 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 MYOT FKRP ANO5
20 tibial muscular dystrophy 9.8 MYOT ANO5
21 muscular dystrophy, duchenne type 9.8 SGCD FKTN DAG1
22 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 TRIM32 MYOT FKRP
23 miyoshi muscular dystrophy 9.8 MYOT FKRP ANO5
24 cardiomyopathy, dilated, 1d 9.8 POMT2 POMT1 POMGNT1 FKRP DAG1
25 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 9.7 DAG1 CRPPA
26 autosomal dominant limb-girdle muscular dystrophy 9.7 MYOT ANO5
27 myopathy, myofibrillar, 3 9.7 TRIM32 MYOT FKRP
28 familial isolated dilated cardiomyopathy 9.7 SGCD FKTN DOLK
29 congenital muscular dystrophy with cerebellar involvement 9.7 POMT2 POMT1 POMGNT1 GMPPB FKRP
30 autosomal recessive limb-girdle muscular dystrophy type 2q 9.7 MYOT GMPPB ANO5
31 autosomal recessive limb-girdle muscular dystrophy type 2x 9.7 MYOT GMPPB ANO5
32 congenital muscular dystrophy due to dystroglycanopathy 9.7 GMPPB FKRP CRPPA
33 muscular dystrophy, congenital, 1b 9.6 POMGNT1 GMPPB FKTN FKRP DAG1
34 congenital muscular dystrophy without intellectual disability 9.6 POMT1 FKTN FKRP CRPPA
35 muscular dystrophy, limb-girdle, autosomal dominant 3 9.6 SGCD MYOT ANO5
36 muscular dystrophy-dystroglycanopathy , type c, 7 9.6 GMPPB CRPPA ANO5
37 muscular dystrophy-dystroglycanopathy , type a, 1 9.5 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
38 myopathy 9.5 TRIM32 MYOT FKRP ANO5
39 congenital nervous system abnormality 9.5 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
40 congenital disorder of glycosylation, type in 9.5 POMT2 POMT1 POMGNT1 DPM3 DOLK
41 autosomal recessive limb-girdle muscular dystrophy type 2w 9.5 POMT2 MYOT GMPPB ANO5
42 neuromuscular disease 9.5 MYOT GMPPB FKRP DAG1
43 rigid spine muscular dystrophy 1 9.5 POMT2 POMGNT1 MYOT FKTN FKRP
44 autosomal recessive limb-girdle muscular dystrophy type 2f 9.5 SGCD MYOT FKRP DAG1
45 congenital myasthenic syndrome 9.5 GMPPB FKTN DAG1
46 autosomal recessive limb-girdle muscular dystrophy type 2d 9.5 SGCD MYOT FKRP ANO5
47 muscular dystrophy, limb-girdle, autosomal dominant 2 9.4 SGCD MYOT FKRP ANO5
48 autosomal recessive limb-girdle muscular dystrophy type 2b 9.4 SGCD MYOT FKRP ANO5
49 autosomal recessive limb-girdle muscular dystrophy type 2j 9.4 TRIM32 SGCD MYOT FKRP
50 muscular dystrophy-dystroglycanopathy , type b, 6 9.3 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3

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 36)
# 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 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
7 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
8 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
9 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
10 centrally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003687
11 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
12 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
13 thigh hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003733
14 elevated serum creatine kinase 31 frequent (33%) HP:0003236
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 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
20 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
21 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
22 spinal rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003306
23 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
24 type 1 muscle fiber predominance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003803
25 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
26 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
27 limb-girdle muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003325
28 generalized amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003700
29 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
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 elevated serum creatine phosphokinase 58 Frequent (79-30%)
34 motor delay 31 HP:0001270
35 proximal muscle weakness 58 Frequent (79-30%)
36 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 9.85 ANO5 DAG1 DOLK DPM3 FKRP FKTN
2 mortality/aging MP:0010768 9.65 CRPPA DAG1 DOLK DPM3 FKRP FKTN
3 muscle MP:0005369 9.23 ANO5 DAG1 FKRP FKTN POMGNT1 POMT1

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. 56 6
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 94) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMT1 NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)SNV Pathogenic 194859 rs794727208 9:134396832-134396832 9:131521445-131521445
2 POMT1 NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)duplication Pathogenic 3255 rs398124245 9:134398412-134398413 9:131523025-131523026
3 POMT1 NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)SNV Pathogenic 39434 rs397514501 9:134384300-134384300 9:131508913-131508913
4 POMT1 NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met)SNV Pathogenic 39435 rs397515400 9:134388718-134388718 9:131513331-131513331
5 POMT1 NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)SNV Pathogenic 95452 rs200056620 9:134388630-134388630 9:131513243-131513243
6 POMT1 NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)SNV Pathogenic 3243 rs119462982 9:134385188-134385188 9:131509801-131509801
7 POMT1 NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)SNV Pathogenic 471374 rs1554780670 9:134393920-134393920 9:131518533-131518533
8 POMT1 NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)SNV Pathogenic 502224 rs765230689 9:134387431-134387431 9:131512044-131512044
9 POMT1 NM_001077365.2(POMT1):c.605+1G>CSNV Pathogenic 538720 rs766648827 9:134385196-134385196 9:131509809-131509809
10 POMT1 NM_001077365.2(POMT1):c.699+62deldeletion Pathogenic 538723 rs1356791510 9:134385445-134385445 9:131510058-131510058
11 POMT1 NM_001077365.2(POMT1):c.606del (p.Ile203fs)deletion Pathogenic 638831 9:134385290-134385290 9:131509903-131509903
12 POMT1 NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)SNV Pathogenic 658622 9:134386846-134386846 9:131511459-131511459
13 POMT1 NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)deletion Pathogenic 594265 rs1564364615 9:134390832-134390833 9:131515445-131515446
14 POMT1 NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)duplication Pathogenic 655295 9:134397437-134397438 9:131522050-131522051
15 POMT1 NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)SNV Pathogenic/Likely pathogenic 3250 rs119462987 9:134397547-134397547 9:131522160-131522160
16 POMT1 NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)SNV Pathogenic/Likely pathogenic 194962 rs149682171 9:134397500-134397500 9:131522113-131522113
17 POMT1 NM_001077365.2(POMT1):c.1272+2T>CSNV Likely pathogenic 580081 rs1564365317 9:134390911-134390911 9:131515524-131515524
18 POMT1 NM_001077365.2(POMT1):c.987-2A>CSNV Likely pathogenic 580822 rs1453773610 9:134387426-134387426 9:131512039-131512039
19 POMT1 NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)SNV Likely pathogenic 802520 9:134398441-134398441 9:131523054-131523054
20 POMT1 NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)SNV Conflicting interpretations of pathogenicity 162591 rs150367385 9:134394834-134394834 9:131519447-131519447
21 POMT1 NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)SNV Conflicting interpretations of pathogenicity 195505 rs138902646 9:134398412-134398412 9:131523025-131523025
22 POMT1 NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)SNV Conflicting interpretations of pathogenicity 95459 rs117985576 9:134394788-134394788 9:131519401-131519401
23 POMT1 NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)SNV Conflicting interpretations of pathogenicity 260143 rs144338642 9:134396761-134396761 9:131521374-131521374
24 POMT1 NM_001077365.2(POMT1):c.568C>T (p.Leu190=)SNV Conflicting interpretations of pathogenicity 281263 rs752931210 9:134385158-134385158 9:131509771-131509771
25 POMT1 NM_001077365.2(POMT1):c.2067C>T (p.His689=)SNV Conflicting interpretations of pathogenicity 288187 rs141895982 9:134398382-134398382 9:131522995-131522995
26 POMT1 NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe)SNV Uncertain significance 288794 rs201073763 9:134385736-134385736 9:131510349-131510349
27 POMT1 NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser)SNV Uncertain significance 288930 rs139774354 9:134385382-134385382 9:131509995-131509995
28 POMT1 NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe)SNV Uncertain significance 291107 rs886044651 9:134381529-134381529 9:131506142-131506142
29 POMT1 NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser)SNV Uncertain significance 365282 rs756303645 9:134397475-134397475 9:131522088-131522088
30 POMT1 NM_001077365.2(POMT1):c.2067C>A (p.His689Gln)SNV Uncertain significance 365284 rs141895982 9:134398382-134398382 9:131522995-131522995
31 POMT1 NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)SNV Uncertain significance 373970 rs202140413 9:134396827-134396827 9:131521440-131521440
32 POMT1 NM_001077365.2(POMT1):c.986+5G>ASNV Uncertain significance 429561 rs370096853 9:134386859-134386859 9:131511472-131511472
33 POMT1 NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)SNV Uncertain significance 432550 rs779771679 9:134385671-134385671 9:131510284-131510284
34 POMT1 NM_001077365.2(POMT1):c.803G>A (p.Arg268His)SNV Uncertain significance 436376 rs369644530 9:134385750-134385750 9:131510363-131510363
35 POMT1 NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro)SNV Uncertain significance 471378 rs1554771665 9:134381532-134381532 9:131506145-131506145
36 POMT1 NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln)SNV Uncertain significance 283065 rs367709136 9:134396830-134396830 9:131521443-131521443
37 POMT1 NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)SNV Uncertain significance 283451 rs886042627 9:134386736-134386736 9:131511349-131511349
38 POMT1 NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe)SNV Uncertain significance 284889 rs141833028 9:134382898-134382898 9:131507511-131507511
39 POMT1 NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val)SNV Uncertain significance 285174 rs369651101 9:134390890-134390890 9:131515503-131515503
40 POMT1 NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp)SNV Uncertain significance 285305 rs150899645 9:134396829-134396829 9:131521442-131521442
41 POMT1 NM_001077365.2(POMT1):c.122+5G>ASNV Uncertain significance 285653 rs376753193 9:134379732-134379732 9:131504345-131504345
42 POMT1 NM_001077365.2(POMT1):c.2003+4C>TSNV Uncertain significance 285700 rs766635497 9:134397615-134397615 9:131522228-131522228
43 POMT1 NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)SNV Uncertain significance 285812 rs199498900 9:134385176-134385176 9:131509789-131509789
44 POMT1 NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser)SNV Uncertain significance 285835 rs146234177 9:134388693-134388693 9:131513306-131513306
45 POMT1 NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu)SNV Uncertain significance 286030 rs200508760 9:134388660-134388660 9:131513273-131513273
46 POMT1 NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)SNV Uncertain significance 286908 rs747506380 9:134385794-134385794 9:131510407-131510407
47 POMT1 NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)SNV Uncertain significance 95469 rs139660235 9:134385699-134385699 9:131510312-131510312
48 POMT1 NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr)SNV Uncertain significance 211945 rs535544133 9:134398374-134398374 9:131522987-131522987
49 POMT1 NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter)SNV Uncertain significance 211946 rs202202445 9:134398482-134398482 9:131523095-131523095
50 POMT1 NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile)SNV Uncertain significance 568485 rs984288781 9:134394829-134394829 9:131519442-131519442

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

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 integral component of membrane GO:0016021 10.02 SGCD POMT2 POMT1 POMGNT1 FKTN FKRP
2 endoplasmic reticulum membrane GO:0005789 9.77 POMT2 POMT1 DPM3 DOLK ANO5
3 endoplasmic reticulum GO:0005783 9.7 POMT2 POMT1 FKTN FKRP DPM3 DOLK
4 dystrophin-associated glycoprotein complex GO:0016010 9.26 SGCD DAG1
5 dystroglycan complex GO:0016011 8.96 SGCD DAG1
6 sarcolemma GO:0042383 8.92 SGCD MYOT FKRP 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 protein glycosylation GO:0006486 9.5 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
2 protein O-linked glycosylation GO:0006493 9.46 POMT2 POMT1 POMGNT1 FKTN
3 mannosylation GO:0097502 9.32 POMT2 POMT1
4 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
5 protein O-linked mannosylation GO:0035269 9.1 POMT2 POMT1 FKTN FKRP DPM3 CRPPA

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, transferring glycosyl groups GO:0016757 9.58 POMT2 POMT1 POMGNT1
2 structural constituent of muscle GO:0008307 9.37 MYOT DAG1
3 mannosyltransferase activity GO:0000030 9.32 POMT2 POMT1
4 transferase activity GO:0016740 9.28 TRIM32 POMT2 POMT1 POMGNT1 GMPPB FKTN
5 alpha-actinin binding GO:0051393 9.26 MYOT DAG1
6 dystroglycan binding GO:0002162 9.16 FKRP DAG1
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.96 POMT2 POMT1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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68 SNOMED-CT via HPO
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