CDG1O
MCID: MSC182
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type C, 15 (CDG1O)

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
Congenital Disorder of Glycosylation Type 1o 59 29 6
Cdg1o 57 59 75
Congenital Disorder of Glycosylation, Type Io 57 13
Congenital Disorder of Glycosylation Type Io 59 75
Cdg Io 57 75
Cdg-Io 59 75
Cdgio 57 75
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dpm3-Related 57
Congenital Disorder of Glycosylation, Type Io; Cdg1o 57
Carbohydrate Deficient Glycoprotein Syndrome Type Io 59
Glycosylation, Congenital Disorder of, Type Io 40
Congenital Disorder of Glycosylation 1o 75
Cdg Syndrome Type Io 59
Cdg Io; Cdgio 57
Dpm3-Cdg 59
Mddgc15 57
Cdg1 57

Characteristics:

Orphanet epidemiological data:

59
dpm3-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612937
Orphanet 59 ORPHA263494
UMLS via Orphanet 74 C2752007
ICD10 via Orphanet 34 E77.8
MedGen 42 C2752007
MeSH 44 D018981

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 1O: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1O patients have 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). Affiliated tissues include eye, and related phenotypes are muscle weakness 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 11.2
2 epileptic encephalopathy, early infantile, 36 11.2

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

Clinical features from OMIM:

612937

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

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 Frequent (79-30%) HP:0001324
2 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
3 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
4 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644
5 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
6 rimmed vacuoles 59 32 frequent (33%) Frequent (79-30%) HP:0003805
7 stroke-like episode 59 32 frequent (33%) Frequent (79-30%) HP:0002401
8 pelvic girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003749
9 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
10 intellectual disability, profound 59 32 frequent (33%) Frequent (79-30%) HP:0002187
11 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
12 calf muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008981
13 elevated creatine kinase after exercise 59 32 frequent (33%) Frequent (79-30%) HP:0008331
14 decreased sialylation of o-linked protein glycosylation 59 32 hallmark (90%) Very frequent (99-80%) HP:0012363
15 elevated serum creatine phosphokinase 32 HP:0003236
16 elevated hepatic transaminases 59 Frequent (79-30%)
17 waddling gait 32 HP:0002515
18 increased variability in muscle fiber diameter 32 HP:0003557
19 type i transferrin isoform profile 32 HP:0003642
20 elevated hepatic transaminase 32 frequent (33%) HP:0002910

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

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

41
Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 15

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

75
# 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 GRCh37 Chromosome 1, 155112468: 155112468
4 DPM3 NM_153741.1(DPM3): c.249C> A (p.Ala83=) single nucleotide variant Conflicting interpretations of pathogenicity rs193215070 GRCh38 Chromosome 1, 155139992: 155139992
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 GRCh38 Chromosome 1, 155140056: 155140056
10 DPM3 NM_153741.1(DPM3): c.185C> T (p.Ala62Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 155112532: 155112532
11 DPM3 NM_153741.1(DPM3): c.55G> T (p.Val19Leu) single nucleotide variant Uncertain significance rs141877691 GRCh37 Chromosome 1, 155112662: 155112662
12 DPM3 NM_153741.1(DPM3): c.55G> T (p.Val19Leu) single nucleotide variant Uncertain significance rs141877691 GRCh38 Chromosome 1, 155140186: 155140186
13 DPM3 NM_153741.1(DPM3): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance rs745807155 GRCh38 Chromosome 1, 155140023: 155140023
14 DPM3 NM_153741.1(DPM3): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance rs745807155 GRCh37 Chromosome 1, 155112499: 155112499
15 DPM3 NM_153741.1(DPM3): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs778481307 GRCh37 Chromosome 1, 155112676: 155112676
16 DPM3 NM_153741.1(DPM3): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs778481307 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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