MCID: CNG207
MIFTS: 26

Congenital Disorder of Glycosylation, Type Io

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Io

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Io:

Name: Congenital Disorder of Glycosylation, Type Io 57 13 73
Congenital Disorder of Glycosylation Type 1o 59 29 6
Cdg1o 57 59 75
Congenital Disorder of Glycosylation Type Io 59 75
Cdg Io 57 75
Cdg-Io 59 75
Cdgio 57 75
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
Cdg1 57

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
congenital disorder of glycosylation, type io:
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
UMLS 73 C2752007

Summaries for Congenital Disorder of Glycosylation, Type Io

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 : Congenital Disorder of Glycosylation, Type Io, also known as congenital disorder of glycosylation type 1o, is related to epileptic encephalopathy, early infantile, 36 and granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i. An important gene associated with Congenital Disorder of Glycosylation, Type Io is DPM3 (Dolichyl-Phosphate Mannosyltransferase Subunit 3). Related phenotypes are muscle weakness and pes planus

Description from OMIM: 612937

Related Diseases for Congenital Disorder of Glycosylation, Type Io

Diseases in the Congenital Disorder of Glycosylation, Type in family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Io Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type Io via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 36 11.1
2 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.9
3 type i 10.2
4 congenital disorders of n-linked glycosylation and multiple pathway 10.2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Io

Clinical features from OMIM:

612937

Human phenotypes related to Congenital Disorder of Glycosylation, Type Io:

59 32 (show all 19)
# 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 elevated hepatic transaminases 59 32 frequent (33%) Frequent (79-30%) HP:0002910
4 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
5 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
6 stroke-like episode 59 32 frequent (33%) Frequent (79-30%) HP:0002401
7 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
8 intellectual disability, profound 59 32 frequent (33%) Frequent (79-30%) HP:0002187
9 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
10 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644
11 elevated creatine kinase after exercise 59 32 frequent (33%) Frequent (79-30%) HP:0008331
12 rimmed vacuoles 59 32 frequent (33%) Frequent (79-30%) HP:0003805
13 calf muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008981
14 decreased sialylation of o-linked protein glycosylation 59 32 hallmark (90%) Very frequent (99-80%) HP:0012363
15 pelvic girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003749
16 elevated serum creatine phosphokinase 32 HP:0003236
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

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Io

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Io

Genetic Tests for Congenital Disorder of Glycosylation, Type Io

Genetic tests related to Congenital Disorder of Glycosylation, Type Io:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1o 29 DPM3

Anatomical Context for Congenital Disorder of Glycosylation, Type Io

Publications for Congenital Disorder of Glycosylation, Type Io

Variations for Congenital Disorder of Glycosylation, Type Io

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Io:

75
# Symbol AA change Variation ID SNP ID
1 DPM3 p.Leu85Ser VAR_062518 rs121908155

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Io:

6
(show all 12)
# 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 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

Expression for Congenital Disorder of Glycosylation, Type Io

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Io.

Pathways for Congenital Disorder of Glycosylation, Type Io

GO Terms for Congenital Disorder of Glycosylation, Type Io

Sources for Congenital Disorder of Glycosylation, Type Io

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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