MDDGC15
MCID: MSC182
MIFTS: 30

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 57 72
Congenital Disorder of Glycosylation, Type Io 57 13 70
Congenital Disorder of Glycosylation Type 1o 58 29 6
Cdg1o 57 58 72
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dpm3-Related 57 72
Congenital Disorder of Glycosylation Type Io 58 72
Mddgc15 57 72
Cdg Io 57 72
Cdg-Io 58 72
Cdgio 57 72
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C15 72
Congenital Disorder of Glycosylation, Type Io; Cdg1o 57
Carbohydrate Deficient Glycoprotein Syndrome Type Io 58
Congenital Disorder of Glycosylation 1o 72
Cdg Syndrome Type Io 58
Cdg Io; Cdgio 57
Dpm3-Cdg 58
Cdg1 57

Characteristics:

Orphanet epidemiological data:

58
dpm3-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
progressive disorder
variable age at onset (range childhood to adult)
four unrelated patients have been reported (last curated august 2020)


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 15:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 612937
OMIM Phenotypic Series 57 PS212065
MeSH 44 D018981
ICD10 via Orphanet 33 E77.8
UMLS via Orphanet 71 C2752007
Orphanet 58 ORPHA263494
MedGen 41 C2752007
UMLS 70 C2752007

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

OMIM® : 57 Limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15) is an autosomal recessive disorder characterized by progressive proximal muscle weakness, manifest initially as unsteady gait, but later including more distal muscles, and dilated cardiomyopathy. The age at onset varies widely from the first decade to adulthood; those with earlier onset may have delayed motor development. Laboratory studies show increased serum creatine kinase and muscle biopsy shows dystrophic features with decreased alpha-dystroglycan (DAG1; 128239). Biochemical studies often show evidence of abnormal N-glycosylation of serum proteins, consistent with a congenital disorder of glycosylation (CDG) (summary by Svahn et al., 2019). For a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 (609308). For a discussion of the classification of CDGs, see CDG1A (212065). (612937) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 15, also known as congenital disorder of glycosylation, type io, is related to granulomatous disease, chronic, autosomal recessive, 1 and congenital disorder of glycosylation, type ia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 15 is DPM3 (Dolichyl-Phosphate Mannosyltransferase Subunit 3, Regulatory). Related phenotypes are decreased sialylation of o-linked protein glycosylation and pes planus

UniProtKB/Swiss-Prot : 72 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.

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

# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, 1 11.0
2 congenital disorder of glycosylation, type ia 10.2
3 inherited metabolic disorder 10.1
4 congenital disorders of n-linked glycosylation and multiple pathway 10.1
5 abdominal obesity-metabolic syndrome 1 9.9
6 congenital disorder of glycosylation, type in 9.9

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 15:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 15

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

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

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased sialylation of o-linked protein glycosylation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012363
2 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
3 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
4 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
5 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
6 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
7 pelvic girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003749
8 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
9 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
10 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
11 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
12 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
13 stroke-like episode 58 31 frequent (33%) Frequent (79-30%) HP:0002401
14 elevated creatine kinase after exercise 58 31 frequent (33%) Frequent (79-30%) HP:0008331
15 muscle weakness 58 31 Frequent (79-30%) HP:0001324
16 elevated serum creatine kinase 31 HP:0003236
17 waddling gait 31 HP:0002515
18 unsteady gait 31 HP:0002317
19 increased variability in muscle fiber diameter 31 HP:0003557
20 gowers sign 31 HP:0003391
21 type i transferrin isoform profile 31 HP:0003642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
dilated cardiomyopathy

Muscle Soft Tissue:
unsteady gait
distal muscle weakness
proximal muscle weakness
difficulty climbing stairs
myopathic changes seen on emg
more
Neurologic Central Nervous System:
delayed motor development (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Laboratory Abnormalities:
increased serum creatine kinase
abnormal n-glycosylation of serum transferrin, type 1 pattern

Cardiovascular Vascular:
ischemic stroke (in 2 patients)

Clinical features from OMIM®:

612937 (Updated 05-Apr-2021)

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 29 DPM3

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

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

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

# Title Authors PMID Year
1
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene. 6 57
31266720 2019
2
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. 6 57
28803818 2017
3
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. 6 57
19576565 2009
4
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]. 6
29246662 2018
5
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. 61
31741824 2019
6
Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG. 61
30931530 2019

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

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

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DPM3 NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) SNV Pathogenic 585021 rs778481307 GRCh37: 1:155112676-155112676
GRCh38: 1:155140200-155140200
2 DPM3 NM_153741.2(DPM3):c.254T>A (p.Leu85Ter) SNV Pathogenic 694278 rs121908155 GRCh37: 1:155112463-155112463
GRCh38: 1:155139987-155139987
3 DPM3 NM_153741.2(DPM3):c.254T>C (p.Leu85Ser) SNV Pathogenic 4702 rs121908155 GRCh37: 1:155112463-155112463
GRCh38: 1:155139987-155139987
4 DPM3 NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) SNV Likely pathogenic 694292 rs745692004 GRCh37: 1:155112593-155112593
GRCh38: 1:155140117-155140117
5 DPM3 NM_153741.2(DPM3):c.249C>A (p.Ala83=) SNV Conflicting interpretations of pathogenicity 292789 rs193215070 GRCh37: 1:155112468-155112468
GRCh38: 1:155139992-155139992
6 DPM3 NM_153741.2(DPM3):c.266G>A (p.Gly89Glu) SNV Uncertain significance 853040 GRCh37: 1:155112451-155112451
GRCh38: 1:155139975-155139975
7 DPM3 NM_153741.2(DPM3):c.257C>A (p.Ala86Asp) SNV Uncertain significance 1004176 GRCh37: 1:155112460-155112460
GRCh38: 1:155139984-155139984
8 DPM3 NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) SNV Uncertain significance 471063 rs773427971 GRCh37: 1:155112538-155112538
GRCh38: 1:155140062-155140062
9 DPM3 NM_153741.2(DPM3):c.218A>C (p.Glu73Ala) SNV Uncertain significance 582811 rs745807155 GRCh37: 1:155112499-155112499
GRCh38: 1:155140023-155140023
10 DPM3 NM_153741.2(DPM3):c.28G>C (p.Gly10Arg) SNV Uncertain significance 835255 GRCh37: 1:155112689-155112689
GRCh38: 1:155140213-155140213
11 DPM3 NM_153741.2(DPM3):c.127G>A (p.Ala43Thr) SNV Uncertain significance 863136 GRCh37: 1:155112590-155112590
GRCh38: 1:155140114-155140114
12 DPM3 NM_153741.2(DPM3):c.208G>A (p.Ala70Thr) SNV Uncertain significance 956521 GRCh37: 1:155112509-155112509
GRCh38: 1:155140033-155140033
13 DPM3 NM_153741.2(DPM3):c.178C>T (p.Arg60Cys) SNV Uncertain significance 873568 GRCh37: 1:155112539-155112539
GRCh38: 1:155140063-155140063
14 DPM3 NC_000001.11:g.(?_155139952)_(155140340_?)dup Duplication Uncertain significance 832159 GRCh37: 1:155112428-155112816
GRCh38:
15 DPM3 NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser) SNV Uncertain significance 657783 rs1055439022 GRCh37: 1:155112541-155112541
GRCh38: 1:155140065-155140065
16 DPM3 NM_153741.2(DPM3):c.21G>A (p.Trp7Ter) SNV Uncertain significance 658481 rs1444066075 GRCh37: 1:155112696-155112696
GRCh38: 1:155140220-155140220
17 DPM3 NM_153741.2(DPM3):c.95T>C (p.Leu32Ser) SNV Uncertain significance 661452 rs959102245 GRCh37: 1:155112622-155112622
GRCh38: 1:155140146-155140146
18 DPM3 NC_000001.10:g.(?_155112428)_(155112816_?)dup Duplication Uncertain significance 1017740 GRCh37: 1:155112428-155112816
GRCh38:
19 DPM3 NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr) SNV Uncertain significance 1016244 GRCh37: 1:155112521-155112521
GRCh38: 1:155140045-155140045
20 DPM3 NM_153741.2(DPM3):c.185C>T (p.Ala62Val) SNV Uncertain significance 538431 rs1553190791 GRCh37: 1:155112532-155112532
GRCh38: 1:155140056-155140056
21 DPM3 NM_153741.2(DPM3):c.55G>T (p.Val19Leu) SNV Uncertain significance 538432 rs141877691 GRCh37: 1:155112662-155112662
GRCh38: 1:155140186-155140186
22 DPM3 NM_153741.2(DPM3):c.48C>T (p.Ser16=) SNV Likely benign 538433 rs753265590 GRCh37: 1:155112669-155112669
GRCh38: 1:155140193-155140193
23 DPM3 NM_153741.2(DPM3):c.60C>T (p.Ala20=) SNV Benign 387489 rs371295542 GRCh37: 1:155112657-155112657
GRCh38: 1:155140181-155140181

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

72
# Symbol AA change Variation ID SNP ID
1 DPM3 p.Leu85Ser VAR_062518 rs121908155

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

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
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
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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