MCID: MSC093
MIFTS: 32

Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases, Mental diseases, Eye diseases, Fetal 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 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-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

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 limb-girdle muscular dystrophy and 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 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 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

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 28.1 HNRNPDL POMGNT1 TNPO3 TRAPPC11
2 muscular dystrophy 27.2 GMPPB HNRNPDL POMGNT1 TNPO3 TRAPPC11
3 congenital muscular dystrophy with cerebellar involvement 10.1 GMPPB POMGNT1
4 muscular dystrophy-dystroglycanopathy 9.8 GMPPB POMGNT1
5 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 HNRNPDL TRAPPC11
6 autosomal recessive limb-girdle muscular dystrophy type 2e 9.7 HNRNPDL TRAPPC11
7 muscle eye brain disease 9.7 GMPPB POMGNT1
8 walker-warburg syndrome 9.5 GMPPB POMGNT1
9 muscular dystrophy, limb-girdle, type 1h 9.5 HNRNPDL TNPO3
10 autosomal dominant limb-girdle muscular dystrophy type 1c 9.4 HNRNPDL TNPO3
11 muscular dystrophy, limb-girdle, type 1b 9.3 HNRNPDL TNPO3
12 autosomal dominant limb-girdle muscular dystrophy type 1g 9.0 HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy, limb-girdle, type 2q 8.9 HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy, limb-girdle, type 1f 8.9 HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 9 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy, limb-girdle, type 2w 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy, limb-girdle, type 2r 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy-dystroglycanopathy , type c, 14 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
19 muscular dystrophy-dystroglycanopathy , type c, 7 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
20 muscular dystrophy-dystroglycanopathy , type c, 1 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
21 muscular dystrophy-dystroglycanopathy , type c, 2 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
22 muscular dystrophy, limb-girdle, type 1e 8.3 GMPPB 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
difficulty climbing stairs
gowers sign
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 skeletal muscle hypertrophy 32 HP:0003712
6 motor delay 32 occasional (7.5%) HP:0001270
7 muscular dystrophy 32 HP:0003560
8 difficulty climbing stairs 32 HP:0003551
9 gowers sign 32 HP:0003391

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


fatigue

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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
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 83)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT1 POMGNT1, 9-BP DUP, -83 duplication Pathogenic
2 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
3 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
4 POMGNT1 NM_017739.3(POMGNT1): c.1298C> T (p.Thr433Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146097254 GRCh38 Chromosome 1, 46192423: 46192423
5 POMGNT1 NM_017739.3(POMGNT1): c.1298C> T (p.Thr433Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146097254 GRCh37 Chromosome 1, 46658095: 46658095
6 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 GRCh38 Chromosome 1, 46196766: 46196766
7 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 GRCh37 Chromosome 1, 46662438: 46662438
8 POMGNT1 NM_017739.3(POMGNT1): c.421-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189274856 GRCh37 Chromosome 1, 46661603: 46661603
9 POMGNT1 NM_017739.3(POMGNT1): c.421-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189274856 GRCh38 Chromosome 1, 46195931: 46195931
10 POMGNT1 NM_017739.3(POMGNT1): c.1510G> A (p.Val504Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs17102066 GRCh37 Chromosome 1, 46657799: 46657799
11 POMGNT1 NM_017739.3(POMGNT1): c.1510G> A (p.Val504Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs17102066 GRCh38 Chromosome 1, 46192127: 46192127
12 POMGNT1 NM_017739.3(POMGNT1): c.1979C> T (p.Thr660Ile) single nucleotide variant Uncertain significance rs377760450 GRCh37 Chromosome 1, 46654946: 46654946
13 POMGNT1 NM_017739.3(POMGNT1): c.1979C> T (p.Thr660Ile) single nucleotide variant Uncertain significance rs377760450 GRCh38 Chromosome 1, 46189274: 46189274
14 POMGNT1 NM_017739.3(POMGNT1): c.706G> C (p.Asp236His) single nucleotide variant Uncertain significance rs201525710 GRCh37 Chromosome 1, 46660270: 46660270
15 POMGNT1 NM_017739.3(POMGNT1): c.706G> C (p.Asp236His) single nucleotide variant Uncertain significance rs201525710 GRCh38 Chromosome 1, 46194598: 46194598
16 POMGNT1 NM_017739.3(POMGNT1): c.46C> T (p.Arg16Trp) single nucleotide variant Uncertain significance rs34058684 GRCh37 Chromosome 1, 46663448: 46663448
17 POMGNT1 NM_017739.3(POMGNT1): c.46C> T (p.Arg16Trp) single nucleotide variant Uncertain significance rs34058684 GRCh38 Chromosome 1, 46197776: 46197776
18 POMGNT1 NM_017739.3(POMGNT1): c.1457G> A (p.Arg486Gln) single nucleotide variant Uncertain significance rs753030030 GRCh37 Chromosome 1, 46657852: 46657852
19 POMGNT1 NM_017739.3(POMGNT1): c.1457G> A (p.Arg486Gln) single nucleotide variant Uncertain significance rs753030030 GRCh38 Chromosome 1, 46192180: 46192180
20 POMGNT1 NM_017739.3(POMGNT1): c.1454G> A (p.Arg485His) single nucleotide variant Uncertain significance rs544816408 GRCh37 Chromosome 1, 46657855: 46657855
21 POMGNT1 NM_017739.3(POMGNT1): c.1454G> A (p.Arg485His) single nucleotide variant Uncertain significance rs544816408 GRCh38 Chromosome 1, 46192183: 46192183
22 POMGNT1 NM_017739.3(POMGNT1): c.172A> G (p.Ile58Val) single nucleotide variant Uncertain significance rs886044042 GRCh37 Chromosome 1, 46662705: 46662705
23 POMGNT1 NM_017739.3(POMGNT1): c.172A> G (p.Ile58Val) single nucleotide variant Uncertain significance rs886044042 GRCh38 Chromosome 1, 46197033: 46197033
24 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 GRCh37 Chromosome 1, 46662488: 46662488
25 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 GRCh38 Chromosome 1, 46196816: 46196816
26 POMGNT1 NM_017739.3(POMGNT1): c.1284+9G> C single nucleotide variant Conflicting interpretations of pathogenicity rs565797493 GRCh37 Chromosome 1, 46658181: 46658181
27 POMGNT1 NM_017739.3(POMGNT1): c.1284+9G> C single nucleotide variant Conflicting interpretations of pathogenicity rs565797493 GRCh38 Chromosome 1, 46192509: 46192509
28 POMGNT1 NM_017739.3(POMGNT1): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance rs776165339 GRCh38 Chromosome 1, 46195905: 46195905
29 POMGNT1 NM_017739.3(POMGNT1): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance rs776165339 GRCh37 Chromosome 1, 46661577: 46661577
30 POMGNT1 NM_017739.3(POMGNT1): c.251G> A (p.Arg84His) single nucleotide variant Uncertain significance rs373866304 GRCh38 Chromosome 1, 46196834: 46196834
31 POMGNT1 NM_017739.3(POMGNT1): c.251G> A (p.Arg84His) single nucleotide variant Uncertain significance rs373866304 GRCh37 Chromosome 1, 46662506: 46662506
32 POMGNT1 NC_000001.11: g.(?_46188699)_(46197841_?)dup duplication Uncertain significance GRCh37 Chromosome 1, 46654371: 46663513
33 POMGNT1 NC_000001.11: g.(?_46188699)_(46197841_?)dup duplication Uncertain significance GRCh38 Chromosome 1, 46188699: 46197841
34 POMGNT1 NM_017739.3(POMGNT1): c.1509C> T (p.Ile503=) single nucleotide variant Likely benign rs370215834 GRCh37 Chromosome 1, 46657800: 46657800
35 POMGNT1 NM_017739.3(POMGNT1): c.1509C> T (p.Ile503=) single nucleotide variant Likely benign rs370215834 GRCh38 Chromosome 1, 46192128: 46192128
36 POMGNT1 NM_017739.3(POMGNT1): c.550C> T (p.His184Tyr) single nucleotide variant Uncertain significance rs746638187 GRCh37 Chromosome 1, 46660618: 46660618
37 POMGNT1 NM_017739.3(POMGNT1): c.550C> T (p.His184Tyr) single nucleotide variant Uncertain significance rs746638187 GRCh38 Chromosome 1, 46194946: 46194946
38 POMGNT1 NM_017739.3(POMGNT1): c.70A> G (p.Thr24Ala) single nucleotide variant Uncertain significance rs766907690 GRCh37 Chromosome 1, 46663424: 46663424
39 POMGNT1 NM_017739.3(POMGNT1): c.70A> G (p.Thr24Ala) single nucleotide variant Uncertain significance rs766907690 GRCh38 Chromosome 1, 46197752: 46197752
40 POMGNT1 NM_017739.3(POMGNT1): c.1110+9T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 46193296: 46193296
41 POMGNT1 NM_017739.3(POMGNT1): c.1110+9T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 46658968: 46658968
42 POMGNT1 NM_017739.3(POMGNT1): c.1014C> T (p.Asp338=) single nucleotide variant Likely benign rs780555791 GRCh37 Chromosome 1, 46659248: 46659248
43 POMGNT1 NM_017739.3(POMGNT1): c.1014C> T (p.Asp338=) single nucleotide variant Likely benign rs780555791 GRCh38 Chromosome 1, 46193576: 46193576
44 POMGNT1 NM_017739.3(POMGNT1): c.751+8T> C single nucleotide variant Likely benign GRCh37 Chromosome 1, 46660217: 46660217
45 POMGNT1 NM_017739.3(POMGNT1): c.751+8T> C single nucleotide variant Likely benign GRCh38 Chromosome 1, 46194545: 46194545
46 POMGNT1 NM_017739.3(POMGNT1): c.1880C> T (p.Pro627Leu) single nucleotide variant Uncertain significance rs200143169 GRCh37 Chromosome 1, 46655145: 46655145
47 POMGNT1 NM_017739.3(POMGNT1): c.1880C> T (p.Pro627Leu) single nucleotide variant Uncertain significance rs200143169 GRCh38 Chromosome 1, 46189473: 46189473
48 POMGNT1 NM_017739.3(POMGNT1): c.1867G> A (p.Val623Met) single nucleotide variant Benign rs6659553 GRCh37 Chromosome 1, 46655158: 46655158
49 POMGNT1 NM_017739.3(POMGNT1): c.1867G> A (p.Val623Met) single nucleotide variant Benign rs6659553 GRCh38 Chromosome 1, 46189486: 46189486
50 POMGNT1 NM_017739.3(POMGNT1): c.1305G> A (p.Glu435=) single nucleotide variant Likely benign GRCh37 Chromosome 1, 46658088: 46658088

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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