MDDGC3
MCID: MSC093
MIFTS: 33

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 53 75 13 73
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o 12 53 59 15
Lgmd2o 57 12 53 59
Mddgc3 57 12 75
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related 57 53
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related 12 75
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C3 29 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15; Lgmdr15 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3 75
Muscular Dystrophy, Limb-Girdle, Type 2o; Lgmd2o 57
Muscular Dystrophy-Dystroglycanopathy Type C3 12
Dystrophy, Muscular, Limb-Girdle, Type 2o ) 40
Muscular Dystrophy, Limb-Girdle, Type 2o 57
Limb-Girdle Muscular Dystrophy Type 2o 53
Lgmdr15 57

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 3:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613157
Disease Ontology 12 DOID:0110292
ICD10 33 G71.0
Orphanet 59 ORPHA206564
ICD10 via Orphanet 34 G71.0
MedGen 42 C3150417
MeSH 44 D049288
UMLS 73 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)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 3, also known as autosomal recessive limb-girdle muscular dystrophy type 2o, is related to muscular dystrophy 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-)). Affiliated tissues include eye and skeletal muscle, and related phenotypes are hyperlordosis and fatigue

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 : 75 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

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 29.7 ANO5 HNRNPDL POMGNT1 TNPO3 TRAPPC11
2 limb-girdle muscular dystrophy 29.7 ANO5 HNRNPDL POMGNT1 TNPO3 TRAPPC11
3 muscular disease 9.9 ANO5 POMGNT1
4 muscular dystrophy, limb-girdle, type 1h 9.8 HNRNPDL TNPO3
5 autosomal recessive limb-girdle muscular dystrophy type 2q 9.8 HNRNPDL TNPO3
6 autosomal dominant limb-girdle muscular dystrophy type 1f 9.8 HNRNPDL TNPO3
7 autosomal dominant limb-girdle muscular dystrophy type 1b 9.8 HNRNPDL TNPO3
8 autosomal dominant limb-girdle muscular dystrophy type 1c 9.8 HNRNPDL TNPO3
9 autosomal recessive limb-girdle muscular dystrophy type 2w 9.7 HNRNPDL TNPO3 TRAPPC11
10 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 HNRNPDL TNPO3 TRAPPC11
11 muscular dystrophy-dystroglycanopathy , type c, 9 9.7 HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 14 9.6 HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy-dystroglycanopathy , type c, 7 9.6 HNRNPDL TNPO3 TRAPPC11
14 autosomal recessive limb-girdle muscular dystrophy type 2r 9.6 HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy, limb-girdle, autosomal dominant 1 9.6 HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy-dystroglycanopathy , type c, 1 9.5 ANO5 HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy-dystroglycanopathy , type c, 2 9.5 ANO5 HNRNPDL TNPO3 TRAPPC11

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 32 HP:0003307
2 fatigue 32 HP:0012378
3 elevated serum creatine phosphokinase 32 HP:0003236
4 myopia 32 HP:0000545
5 motor delay 32 occasional (7.5%) HP:0001270
6 skeletal muscle hypertrophy 32 HP:0003712
7 muscular dystrophy 32 HP:0003560
8 gowers sign 32 HP:0003391
9 difficulty climbing stairs 32 HP:0003551

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


fatigue

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:

41
Eye, Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

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

# Title Authors Year
1
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. ( 22419172 )
2012

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

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

75
# Symbol AA change Variation ID SNP ID
1 POMGNT1 p.Asp556Asn VAR_065025 rs74374973

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

6 (show top 50) (show all 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT1 NM_017739.3(POMGNT1): c.1666G> A (p.Asp556Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74374973 GRCh37 Chromosome 1, 46655645: 46655645
2 POMGNT1 NM_017739.3(POMGNT1): c.1666G> A (p.Asp556Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74374973 GRCh38 Chromosome 1, 46189973: 46189973
3 POMGNT1 POMGNT1, 9-BP DUP, -83 duplication Pathogenic
4 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
5 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
6 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs386834024 GRCh37 Chromosome 1, 46655129: 46655129
7 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs386834024 GRCh38 Chromosome 1, 46189457: 46189457
8 POMGNT1 NM_001243766.1(POMGNT1): c.301G> A (p.Val101Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150576537 GRCh37 Chromosome 1, 46662456: 46662456
9 POMGNT1 NM_001243766.1(POMGNT1): c.301G> A (p.Val101Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150576537 GRCh38 Chromosome 1, 46196784: 46196784
10 POMGNT1 NM_017739.3(POMGNT1): c.1257G> A (p.Leu419=) single nucleotide variant Benign rs41292143 GRCh37 Chromosome 1, 46658217: 46658217
11 POMGNT1 NM_017739.3(POMGNT1): c.1257G> A (p.Leu419=) single nucleotide variant Benign rs41292143 GRCh38 Chromosome 1, 46192545: 46192545
12 POMGNT1 NM_017739.3(POMGNT1): c.1298C> T (p.Thr433Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146097254 GRCh38 Chromosome 1, 46192423: 46192423
13 POMGNT1 NM_017739.3(POMGNT1): c.1298C> T (p.Thr433Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146097254 GRCh37 Chromosome 1, 46658095: 46658095
14 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 GRCh38 Chromosome 1, 46196766: 46196766
15 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 GRCh37 Chromosome 1, 46662438: 46662438
16 POMGNT1 NM_017739.3(POMGNT1): c.421-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189274856 GRCh37 Chromosome 1, 46661603: 46661603
17 POMGNT1 NM_017739.3(POMGNT1): c.421-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189274856 GRCh38 Chromosome 1, 46195931: 46195931
18 POMGNT1 NM_017739.3(POMGNT1): c.636C> T (p.Phe212=) single nucleotide variant Pathogenic rs190057175 GRCh37 Chromosome 1, 46660532: 46660532
19 POMGNT1 NM_017739.3(POMGNT1): c.636C> T (p.Phe212=) single nucleotide variant Pathogenic rs190057175 GRCh38 Chromosome 1, 46194860: 46194860
20 POMGNT1 NM_017739.3(POMGNT1): c.1510G> A (p.Val504Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs17102066 GRCh37 Chromosome 1, 46657799: 46657799
21 POMGNT1 NM_017739.3(POMGNT1): c.1510G> A (p.Val504Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs17102066 GRCh38 Chromosome 1, 46192127: 46192127
22 POMGNT1 NM_017739.3(POMGNT1): c.208G> A (p.Glu70Lys) single nucleotide variant Uncertain significance rs201361648 GRCh37 Chromosome 1, 46662669: 46662669
23 POMGNT1 NM_017739.3(POMGNT1): c.208G> A (p.Glu70Lys) single nucleotide variant Uncertain significance rs201361648 GRCh38 Chromosome 1, 46196997: 46196997
24 POMGNT1 NM_017739.3(POMGNT1): c.1979C> T (p.Thr660Ile) single nucleotide variant Uncertain significance rs377760450 GRCh37 Chromosome 1, 46654946: 46654946
25 POMGNT1 NM_017739.3(POMGNT1): c.1979C> T (p.Thr660Ile) single nucleotide variant Uncertain significance rs377760450 GRCh38 Chromosome 1, 46189274: 46189274
26 POMGNT1 NM_017739.3(POMGNT1): c.706G> C (p.Asp236His) single nucleotide variant Uncertain significance rs201525710 GRCh37 Chromosome 1, 46660270: 46660270
27 POMGNT1 NM_017739.3(POMGNT1): c.706G> C (p.Asp236His) single nucleotide variant Uncertain significance rs201525710 GRCh38 Chromosome 1, 46194598: 46194598
28 POMGNT1 NM_017739.3(POMGNT1): c.46C> T (p.Arg16Trp) single nucleotide variant Uncertain significance rs34058684 GRCh37 Chromosome 1, 46663448: 46663448
29 POMGNT1 NM_017739.3(POMGNT1): c.46C> T (p.Arg16Trp) single nucleotide variant Uncertain significance rs34058684 GRCh38 Chromosome 1, 46197776: 46197776
30 POMGNT1 NM_017739.3(POMGNT1): c.1457G> A (p.Arg486Gln) single nucleotide variant Uncertain significance rs753030030 GRCh37 Chromosome 1, 46657852: 46657852
31 POMGNT1 NM_017739.3(POMGNT1): c.1457G> A (p.Arg486Gln) single nucleotide variant Uncertain significance rs753030030 GRCh38 Chromosome 1, 46192180: 46192180
32 POMGNT1 NM_017739.3(POMGNT1): c.1454G> A (p.Arg485His) single nucleotide variant Uncertain significance rs544816408 GRCh37 Chromosome 1, 46657855: 46657855
33 POMGNT1 NM_017739.3(POMGNT1): c.1454G> A (p.Arg485His) single nucleotide variant Uncertain significance rs544816408 GRCh38 Chromosome 1, 46192183: 46192183
34 POMGNT1 NM_017739.3(POMGNT1): c.172A> G (p.Ile58Val) single nucleotide variant Uncertain significance rs886044042 GRCh37 Chromosome 1, 46662705: 46662705
35 POMGNT1 NM_017739.3(POMGNT1): c.172A> G (p.Ile58Val) single nucleotide variant Uncertain significance rs886044042 GRCh38 Chromosome 1, 46197033: 46197033
36 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 GRCh37 Chromosome 1, 46662488: 46662488
37 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 GRCh38 Chromosome 1, 46196816: 46196816
38 POMGNT1 NM_017739.3(POMGNT1): c.1284+9G> C single nucleotide variant Conflicting interpretations of pathogenicity rs565797493 GRCh37 Chromosome 1, 46658181: 46658181
39 POMGNT1 NM_017739.3(POMGNT1): c.1284+9G> C single nucleotide variant Conflicting interpretations of pathogenicity rs565797493 GRCh38 Chromosome 1, 46192509: 46192509
40 POMGNT1 NM_017739.3(POMGNT1): c.1539C> T (p.His513=) single nucleotide variant Uncertain significance rs569297597 GRCh37 Chromosome 1, 46657770: 46657770
41 POMGNT1 NM_017739.3(POMGNT1): c.1539C> T (p.His513=) single nucleotide variant Uncertain significance rs569297597 GRCh38 Chromosome 1, 46192098: 46192098
42 POMGNT1 NM_017739.3(POMGNT1): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance rs776165339 GRCh37 Chromosome 1, 46661577: 46661577
43 POMGNT1 NM_017739.3(POMGNT1): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance rs776165339 GRCh38 Chromosome 1, 46195905: 46195905
44 POMGNT1 NM_017739.3(POMGNT1): c.251G> A (p.Arg84His) single nucleotide variant Uncertain significance rs373866304 GRCh37 Chromosome 1, 46662506: 46662506
45 POMGNT1 NM_017739.3(POMGNT1): c.251G> A (p.Arg84His) single nucleotide variant Uncertain significance rs373866304 GRCh38 Chromosome 1, 46196834: 46196834
46 POMGNT1 NC_000001.11: g.(?_46188699)_(46197841_?)dup duplication Uncertain significance GRCh37 Chromosome 1, 46654371: 46663513
47 POMGNT1 NC_000001.11: g.(?_46188699)_(46197841_?)dup duplication Uncertain significance GRCh38 Chromosome 1, 46188699: 46197841
48 POMGNT1 NM_017739.3(POMGNT1): c.1509C> T (p.Ile503=) single nucleotide variant Likely benign rs370215834 GRCh38 Chromosome 1, 46192128: 46192128
49 POMGNT1 NM_017739.3(POMGNT1): c.1509C> T (p.Ile503=) single nucleotide variant Likely benign rs370215834 GRCh37 Chromosome 1, 46657800: 46657800
50 POMGNT1 NM_017739.3(POMGNT1): c.550C> T (p.His184Tyr) single nucleotide variant Uncertain significance rs746638187 GRCh38 Chromosome 1, 46194946: 46194946

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

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

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 3

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