MDDGC15
MCID: MSC182
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type C, 15 (MDDGC15)

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, 15

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 15:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 15 58 76
Congenital Disorder of Glycosylation Type 1o 60 30 6
Cdg1o 58 60 76
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dpm3-Related 58 76
Congenital Disorder of Glycosylation, Type Io 58 13
Congenital Disorder of Glycosylation Type Io 60 76
Mddgc15 58 76
Cdg Io 58 76
Cdg-Io 60 76
Cdgio 58 76
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C15 76
Congenital Disorder of Glycosylation, Type Io; Cdg1o 58
Carbohydrate Deficient Glycoprotein Syndrome Type Io 60
Glycosylation, Congenital Disorder of, Type Io 41
Congenital Disorder of Glycosylation 1o 76
Cdg Syndrome Type Io 60
Cdg Io; Cdgio 58
Dpm3-Cdg 60
Cdg1 58

Characteristics:

Orphanet epidemiological data:

60
dpm3-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
adult onset
two unrelated patients have been reported (last curated october 2018)


HPO:

33
muscular dystrophy-dystroglycanopathy , type c, 15:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

UniProtKB/Swiss-Prot : 76 Muscular dystrophy-dystroglycanopathy limb-girdle C15: An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O- mannosylation of alpha-dystroglycan.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 15, also known as congenital disorder of glycosylation type 1o, is related to granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i and epileptic encephalopathy, early infantile, 36. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 15 is DPM3 (Dolichyl-Phosphate Mannosyltransferase Subunit 3, Regulatory). Affiliated tissues include eye, and related phenotypes are decreased sialylation of o-linked protein glycosylation and pes planus

Description from OMIM: 612937

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

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

# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 11.4
2 epileptic encephalopathy, early infantile, 36 11.3

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 15:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased sialylation of o-linked protein glycosylation 60 33 hallmark (90%) Very frequent (99-80%) HP:0012363
2 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
3 elevated hepatic transaminase 60 33 frequent (33%) Frequent (79-30%) HP:0002910
4 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
5 dilated cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001644
6 reduced tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001315
7 rimmed vacuoles 60 33 frequent (33%) Frequent (79-30%) HP:0003805
8 stroke-like episode 60 33 frequent (33%) Frequent (79-30%) HP:0002401
9 pelvic girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003749
10 chest pain 60 33 frequent (33%) Frequent (79-30%) HP:0100749
11 intellectual disability, profound 60 33 frequent (33%) Frequent (79-30%) HP:0002187
12 muscular dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003560
13 calf muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008981
14 elevated creatine kinase after exercise 60 33 frequent (33%) Frequent (79-30%) HP:0008331
15 muscle weakness 60 33 Frequent (79-30%) HP:0001324
16 waddling gait 33 HP:0002515
17 increased variability in muscle fiber diameter 33 HP:0003557
18 gowers sign 33 HP:0003391
19 unsteady gait 33 HP:0002317
20 type i transferrin isoform profile 33 HP:0003642
21 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
proximal muscle weakness
unsteady gait
muscle biopsy shows dystrophic changes
calf pseudohypertrophy
muscular dystrophy, limb-girdle
more
Cardiovascular Heart:
dilated cardiomyopathy (1 patient)

Laboratory Abnormalities:
increased serum creatine kinase
abnormal n-glycosylation of serum transferrin (in 1 patient)

Clinical features from OMIM:

612937

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 15:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1o 30 DPM3

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 15:

42
Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 15:

# Title Authors Year
1
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]. ( 29246662 )
2018
2
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. ( 19576565 )
2009

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 15:

76
# Symbol AA change Variation ID SNP ID
1 DPM3 p.Leu85Ser VAR_062518 rs121908155

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 15:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPM3 NM_153741.1(DPM3): c.254T> C (p.Leu85Ser) single nucleotide variant Pathogenic rs121908155 GRCh37 Chromosome 1, 155112463: 155112463
2 DPM3 NM_153741.1(DPM3): c.254T> C (p.Leu85Ser) single nucleotide variant Pathogenic rs121908155 GRCh38 Chromosome 1, 155139987: 155139987
3 DPM3 NM_153741.1(DPM3): c.249C> A (p.Ala83=) single nucleotide variant Conflicting interpretations of pathogenicity rs193215070 GRCh38 Chromosome 1, 155139992: 155139992
4 DPM3 NM_153741.1(DPM3): c.249C> A (p.Ala83=) single nucleotide variant Conflicting interpretations of pathogenicity rs193215070 GRCh37 Chromosome 1, 155112468: 155112468
5 DPM3 NM_153741.1(DPM3): c.179G> T (p.Arg60Leu) single nucleotide variant Uncertain significance rs773427971 GRCh37 Chromosome 1, 155112538: 155112538
6 DPM3 NM_153741.1(DPM3): c.179G> T (p.Arg60Leu) single nucleotide variant Uncertain significance rs773427971 GRCh38 Chromosome 1, 155140062: 155140062
7 DPM3 NM_153741.1(DPM3): c.48C> T (p.Ser16=) single nucleotide variant Likely benign rs753265590 GRCh38 Chromosome 1, 155140193: 155140193
8 DPM3 NM_153741.1(DPM3): c.48C> T (p.Ser16=) single nucleotide variant Likely benign rs753265590 GRCh37 Chromosome 1, 155112669: 155112669
9 DPM3 NM_153741.1(DPM3): c.185C> T (p.Ala62Val) single nucleotide variant Uncertain significance rs1553190791 GRCh38 Chromosome 1, 155140056: 155140056
10 DPM3 NM_153741.1(DPM3): c.185C> T (p.Ala62Val) single nucleotide variant Uncertain significance rs1553190791 GRCh37 Chromosome 1, 155112532: 155112532
11 DPM3 NM_153741.1(DPM3): c.55G> T (p.Val19Leu) single nucleotide variant Uncertain significance rs141877691 GRCh38 Chromosome 1, 155140186: 155140186
12 DPM3 NM_153741.1(DPM3): c.55G> T (p.Val19Leu) single nucleotide variant Uncertain significance rs141877691 GRCh37 Chromosome 1, 155112662: 155112662
13 DPM3 NM_153741.1(DPM3): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 155140023: 155140023
14 DPM3 NM_153741.1(DPM3): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 155112499: 155112499
15 DPM3 NM_153741.1(DPM3): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 155112676: 155112676
16 DPM3 NM_153741.1(DPM3): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 155140200: 155140200

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 15.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

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