MDDGC3
MCID: MSC093
MIFTS: 48

Muscular Dystrophy-Dystroglycanopathy , Type C, 3 (MDDGC3)

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, 3

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 3:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 3 57 20 72 13 70
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o 12 20 58 15
Lgmd2o 57 12 20 58
Mddgc3 57 12 72
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related 57 20
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related 12 72
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C3 29 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15 57 72
Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15 20 58
Limb-Girdle Muscular Dystrophy Type 2o 20 58
Pomgnt1-Related Lgmd R15 20 58
Lgmd Type 2o 20 58
Lgmdr15 57 72
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15; Lgmdr15 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3 72
Muscular Dystrophy, Limb-Girdle, Type 2o; Lgmd2o 57
Muscular Dystrophy-Dystroglycanopathy Type C3 12
Dystrophy, Muscular, Limb-Girdle, Type 2o 39
Muscular Dystrophy, Limb-Girdle, Type 2o 57

Characteristics:

Orphanet epidemiological data:

58
pomgnt1-related limb-girdle muscular dystrophy r15
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM®:

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

Miscellaneous:
progressive disorder
onset in infancy or early childhood
two unrelated patients have been reported (last curated october 2012)


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 3:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110292
OMIM® 57 613157
OMIM Phenotypic Series 57 PS253600 PS609308
MeSH 44 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA206564
MedGen 41 C3150417
UMLS 70 C3150417

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

OMIM® : 57 MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (613157) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 3, also known as autosomal recessive limb-girdle muscular dystrophy type 2o, is related to congenital muscular dystrophy due to dystroglycanopathy and limb-girdle muscular dystrophy, and has symptoms including fatigue An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)), and among its related pathways/superpathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are motor delay and hyperlordosis

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy limb-girdle C3: A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy due to dystroglycanopathy 30.8 GMPPB FKRP
2 limb-girdle muscular dystrophy 29.6 TRAPPC11 SGCG POMT1 POMGNT1 FKTN FKRP
3 muscular dystrophy 27.2 TSPAN1 TRAPPC11 SGCG RXYLT1 POMT2 POMT1
4 qualitative or quantitative defects of alpha-dystroglycan 10.3
5 retinitis pigmentosa 76 10.2 TSPAN1 POMGNT1
6 cardiomyopathy, dilated, 1x 10.1 FKTN DAG1
7 congenital muscular dystrophy-dystroglycanopathy a7 10.1 FKTN FKRP
8 congenital muscular dystrophy-dystroglycanopathy type a2 10.1 POMT2 POMT1 DPM3
9 congenital muscular dystrophy-dystroglycanopathy a14 10.1 GMPPB DAG1
10 congenital muscular dystrophy without intellectual disability 10.1 POMT1 FKTN FKRP
11 fukuyama type muscular dystrophy 10.1 FKTN FKRP
12 epidermolysis bullosa simplex with mottled pigmentation 10.0 POMT2 POMT1
13 ablepharon-macrostomia syndrome 10.0 POMT1 POMGNT1 FKTN FKRP
14 rigid spine muscular dystrophy 1 10.0 FKTN FKRP DAG1
15 congenital muscular dystrophy-dystroglycanopathy type a5 10.0 RXYLT1 FKRP DAG1
16 retinal lattice degeneration 10.0 POMT2 POMT1 FKTN DAG1
17 congenital muscular dystrophy with intellectual disability 9.9 POMT2 POMT1 GMPPB FKRP
18 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 SGCG FKRP
19 peters-plus syndrome 9.9 POMT2 POMT1 POMGNT1 DAG1
20 muscular dystrophy, limb-girdle, autosomal dominant 2 9.9 SGCG FKRP
21 glycogen storage disease ii 9.9 GANC FKRP ANO5
22 epidermolysis bullosa simplex with muscular dystrophy 9.9 TRAPPC11 FKRP
23 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 SGCG POMT1 FKRP
24 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 SGCG FKRP ANO5
25 creatine phosphokinase, elevated serum 9.9 GMPPB ANO5
26 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 SGCG FKRP ANO5
27 congenital muscular dystrophy with cerebellar involvement 9.8 POMT2 POMT1 POMGNT1 GMPPB FKRP
28 tibial muscular dystrophy 9.8 SGCG FKRP ANO5
29 congenital nervous system abnormality 9.8 POMT2 POMT1 POMGNT1 FKTN DAG1
30 hydrophthalmos 9.8 POMT2 POMT1 FKTN DPM3 DAG1
31 autosomal recessive limb-girdle muscular dystrophy type 2f 9.8 SGCG FKRP DAG1
32 cardiomyopathy, dilated, 1d 9.8 POMT2 POMT1 POMGNT1 FKRP DAG1
33 muscular dystrophy, limb-girdle, type 1h 9.8 TRAPPC11 LIMS2
34 autosomal recessive limb-girdle muscular dystrophy type 2x 9.8 LIMS2 GMPPB ANO5
35 muscular dystrophy-dystroglycanopathy , type a, 1 9.7 RXYLT1 POMT2 POMT1 FKTN FKRP
36 muscular dystrophy, becker type 9.7 SGCG FKTN FKRP DAG1
37 congenital muscular dystrophy-dystroglycanopathy type a3 9.7 TSPAN1 RXYLT1 POMT2 POMT1 POMGNT1 DPM3
38 ullrich congenital muscular dystrophy 1 9.7 SGCG FKTN FKRP DAG1
39 muscular dystrophy, congenital, 1b 9.7 RXYLT1 GMPPB FKTN FKRP DAG1
40 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 SGCG FKRP DAG1 ANO5
41 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 SGCG FKRP DAG1 ANO5
42 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 SGCG FKRP DAG1 ANO5
43 adermatoglyphia 9.7 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
44 congenital disorder of glycosylation, type in 9.7 TRAPPC11 POMT2 POMT1 DPM3 DAG1
45 miyoshi muscular dystrophy 9.6 SGCG FKRP DAG1 ANO5
46 neuromuscular disease 9.6 SGCG GMPPB FKRP DAG1
47 congenital muscular dystrophy-dystroglycanopathy type a1 9.6 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
48 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
49 muscular dystrophy, limb-girdle, autosomal dominant 3 9.5 TRAPPC11 LIMS2 GANC
50 autosomal recessive limb-girdle muscular dystrophy type 2q 9.5 TRAPPC11 LIMS2 GMPPB ANO5

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 3

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 motor delay 31 occasional (7.5%) HP:0001270
2 hyperlordosis 31 HP:0003307
3 fatigue 31 HP:0012378
4 myopia 31 HP:0000545
5 elevated serum creatine kinase 31 HP:0003236
6 skeletal muscle hypertrophy 31 HP:0003712
7 muscular dystrophy 31 HP:0003560
8 gowers sign 31 HP:0003391
9 difficulty climbing stairs 31 HP:0003551

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
fatigue
gowers sign
difficulty climbing stairs
muscle weakness, proximal
muscle hypertrophy
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Limbs:
distal joint contractures

Neurologic Peripheral Nervous System:
arflexia (1 patient)

Skeletal Spine:
lordosis

Head And Neck Eyes:
myopia (in 1 patient)

Neurologic Central Nervous System:
delayed motor development (1 patient)

Clinical features from OMIM®:

613157 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3:


fatigue

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 ANO5 DAG1 DPM3 FKRP FKTN POMGNT1
2 mortality/aging MP:0010768 9.7 DAG1 DPM3 FKRP FKTN LIMS2 POMGNT1
3 muscle MP:0005369 9.23 ANO5 DAG1 FKRP FKTN LIMS2 POMGNT1

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C3 29 POMGNT1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3:

40
Eye, Skeletal Muscle, Brain, Retina

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3:

(show all 32)
# Title Authors PMID Year
1
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. 61 6 57
22419172 2012
2
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6 57
17878207 2007
3
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. 6
33175337 2021
4
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. 6
28832562 2017
5
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 6
28688748 2017
6
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 6
28424332 2017
7
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
8
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. 6
27391550 2016
9
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 6
26908613 2016
10
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. 6
24731844 2014
11
Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene. 6
24282183 2014
12
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 6
23689641 2013
13
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 6
23326386 2013
14
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 6
22554691 2012
15
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
16
Novel retinal findings in an infant with muscle-eye-brain disease. 6
25390965 2012
17
Reactive gliosis of astrocytes and Müller glial cells in retina of POMGnT1-deficient mice. 6
21447391 2011
18
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 6
21361872 2011
19
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. 6
20816175 2010
20
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. 6
19679478 2009
21
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6
19299310 2009
22
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 6
19067344 2008
23
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 57
18195152 2008
24
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 6
18330676 2008
25
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 6
17906881 2007
26
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
27
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 6
17030669 2006
28
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 6
15466003 2004
29
POMGnT1 gene alterations in a family with neurological abnormalities. 6
15236414 2004
30
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 6
11709191 2001
31
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
32
Other limb-girdle muscular dystrophies. 61
21496628 2011

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 3:

6 (show top 50) (show all 293)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMGNT1 POMGNT1, 9-BP DUP, -83 Duplication Pathogenic 39719 GRCh37:
GRCh38:
2 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1335del (p.Met446fs) Deletion Pathogenic 538743 rs1553163206 GRCh37: 1:46658058-46658058
GRCh38: 1:46192386-46192386
3 POMGNT1 NM_017739.3(POMGNT1):c.10del (p.Trp4fs) Deletion Pathogenic 642652 rs1571672866 GRCh37: 1:46663484-46663484
GRCh38: 1:46197812-46197812
4 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.511C>T (p.Arg171Ter) SNV Pathogenic 648374 rs1424631447 GRCh37: 1:46661506-46661506
GRCh38: 1:46195834-46195834
5 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1001_1002del (p.Thr334fs) Deletion Pathogenic 651215 rs1571659306 GRCh37: 1:46659260-46659261
GRCh38: 1:46193588-46193589
6 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1462C>T (p.Arg488Ter) SNV Pathogenic 665448 rs727504103 GRCh37: 1:46657847-46657847
GRCh38: 1:46192175-46192175
7 POMGNT1 , TSPAN1 NC_000001.11:g.(?_46190463)_(46190794_?)del Deletion Pathogenic 644271 GRCh37: 1:46656135-46656466
GRCh38: 1:46190463-46190794
8 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) SNV Pathogenic 56586 rs386834018 GRCh37: 1:46655573-46655573
GRCh38: 1:46189901-46189901
9 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) SNV Pathogenic 56587 rs386834019 GRCh37: 1:46655542-46655542
GRCh38: 1:46189870-46189870
10 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>A SNV Pathogenic 56592 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
11 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) SNV Pathogenic 56610 rs386834039 GRCh37: 1:46659546-46659546
GRCh38: 1:46193874-46193874
12 POMGNT1 NM_017739.4(POMGNT1):c.36del (p.Phe13fs) Deletion Pathogenic 845990 GRCh37: 1:46663458-46663458
GRCh38: 1:46197786-46197786
13 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) Deletion Pathogenic 862774 GRCh37: 1:46656440-46656440
GRCh38: 1:46190768-46190768
14 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) SNV Pathogenic 56604 rs386834034 GRCh37: 1:46660525-46660525
GRCh38: 1:46194853-46194853
15 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) Microsatellite Pathogenic 550363 rs1553163360 GRCh37: 1:46658982-46658983
GRCh38: 1:46193310-46193311
16 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) SNV Pathogenic 3992 rs28940869 GRCh37: 1:46658069-46658069
GRCh38: 1:46192397-46192397
17 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter) SNV Pathogenic 970328 GRCh37: 1:46658192-46658192
GRCh38: 1:46192520-46192520
18 POMGNT1 , TSPAN1 NM_001243766.1(POMGNT1):c.386G>A (p.Arg129Gln) SNV Pathogenic 471406 rs770188918 GRCh37: 1:46661718-46661718
GRCh38: 1:46196046-46196046
19 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) SNV Pathogenic 265399 rs190057175 GRCh37: 1:46660532-46660532
GRCh38: 1:46194860-46194860
20 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
21 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>T SNV Pathogenic 56593 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
22 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
23 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) SNV Pathogenic 4000 rs267606960 GRCh37: 1:46657840-46657840
GRCh38: 1:46192168-46192168
24 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) SNV Pathogenic 4000 rs267606960 GRCh37: 1:46657840-46657840
GRCh38: 1:46192168-46192168
25 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>T SNV Pathogenic 56593 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
26 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
27 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1285-2A>T SNV Likely pathogenic 960992 GRCh37: 1:46658110-46658110
GRCh38: 1:46192438-46192438
28 POMGNT1 NM_017739.4(POMGNT1):c.121-67_265del Deletion Likely pathogenic 963060 GRCh37: 1:46662492-46662823
GRCh38: 1:46196820-46197151
29 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) SNV Likely pathogenic 265399 rs190057175 GRCh37: 1:46660532-46660532
GRCh38: 1:46194860-46194860
30 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1153-1G>C SNV Likely pathogenic 955510 GRCh37: 1:46658631-46658631
GRCh38: 1:46192959-46192959
31 POMGNT1 NM_017739.4(POMGNT1):c.120+2T>A SNV Likely pathogenic 956310 GRCh37: 1:46663372-46663372
GRCh38: 1:46197700-46197700
32 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) SNV Likely pathogenic 56604 rs386834034 GRCh37: 1:46660525-46660525
GRCh38: 1:46194853-46194853
33 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) SNV Likely pathogenic 3992 rs28940869 GRCh37: 1:46658069-46658069
GRCh38: 1:46192397-46192397
34 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) SNV Likely pathogenic 56610 rs386834039 GRCh37: 1:46659546-46659546
GRCh38: 1:46193874-46193874
35 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.652+1G>T SNV Likely pathogenic 642934 rs386834035 GRCh37: 1:46660515-46660515
GRCh38: 1:46194843-46194843
36 POMGNT1 , TSPAN1 NC_000001.11:g.(?_46188699)_(46190009_?)del Deletion Likely pathogenic 583747 GRCh37: 1:46654371-46655681
GRCh38: 1:46188699-46190009
37 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) SNV Likely pathogenic 3998 rs267606962 GRCh37: 1:46655211-46655211
GRCh38: 1:46189539-46189539
38 POMGNT1 , TSPAN1 NC_000001.10:g.(?_46656135)_(46656466_?)dup Duplication Likely pathogenic 658979 GRCh37: 1:46656135-46656466
GRCh38: 1:46190463-46190794
39 POMGNT1 NM_017739.3(POMGNT1):c.184C>T (p.Arg62Trp) SNV Uncertain significance 661000 rs1352412667 GRCh37: 1:46662693-46662693
GRCh38: 1:46197021-46197021
40 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1919C>T (p.Thr640Ile) SNV Uncertain significance 661391 rs748799436 GRCh37: 1:46655006-46655006
GRCh38: 1:46189334-46189334
41 POMGNT1 NM_017739.3(POMGNT1):c.7G>T (p.Asp3Tyr) SNV Uncertain significance 662078 rs201637813 GRCh37: 1:46663487-46663487
GRCh38: 1:46197815-46197815
42 POMGNT1 NM_017739.3(POMGNT1):c.52A>G (p.Lys18Glu) SNV Uncertain significance 538745 rs1553164287 GRCh37: 1:46663442-46663442
GRCh38: 1:46197770-46197770
43 POMGNT1 NM_017739.3(POMGNT1):c.251G>T (p.Arg84Leu) SNV Uncertain significance 471405 rs373866304 GRCh37: 1:46662506-46662506
GRCh38: 1:46196834-46196834
44 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1110+9T>C SNV Uncertain significance 471399 rs1553163359 GRCh37: 1:46658968-46658968
GRCh38: 1:46193296-46193296
45 POMGNT1 NM_017739.3(POMGNT1):c.70A>G (p.Thr24Ala) SNV Uncertain significance 471408 rs766907690 GRCh37: 1:46663424-46663424
GRCh38: 1:46197752-46197752
46 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1101C>T (p.Arg367=) SNV Uncertain significance 538739 rs775495503 GRCh37: 1:46658986-46658986
GRCh38: 1:46193314-46193314
47 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1152G>A (p.Pro384=) SNV Uncertain significance 538740 rs760312462 GRCh37: 1:46658846-46658846
GRCh38: 1:46193174-46193174
48 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.689C>G (p.Ala230Gly) SNV Uncertain significance 538741 rs921366442 GRCh37: 1:46660287-46660287
GRCh38: 1:46194615-46194615
49 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.656C>T (p.Pro219Leu) SNV Uncertain significance 538742 rs1244157163 GRCh37: 1:46660320-46660320
GRCh38: 1:46194648-46194648
50 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.*451C>T SNV Uncertain significance 297532 rs148903585 GRCh37: 1:46654491-46654491
GRCh38: 1:46188819-46188819

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 3:

72
# Symbol AA change Variation ID SNP ID
1 POMGNT1 p.Asp556Asn VAR_065025 rs74374973

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 3.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.52 POMT2 POMT1 POMGNT1 DAG1
2 10.46 RXYLT1 POMT2 POMT1 POMGNT1 FKTN FKRP

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.7 TSPAN1 SGCG RXYLT1 POMT2 POMT1 POMGNT1
2 endoplasmic reticulum GO:0005783 9.63 POMT2 POMT1 FKTN FKRP DPM3 ANO5
3 sarcolemma GO:0042383 8.8 SGCG FKRP DAG1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.5 RXYLT1 POMT2 POMT1 POMGNT1 FKTN FKRP
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 RXYLT1 POMT2 POMT1 FKTN FKRP DPM3

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.7 RXYLT1 POMT2 POMT1 POMGNT1 GMPPB FKTN
2 mannosyltransferase activity GO:0000030 9.26 POMT2 POMT1
3 dystroglycan binding GO:0002162 8.96 FKRP DAG1
4 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT2 POMT1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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