CDG2O
MCID: CNG497
MIFTS: 44

Congenital Disorder of Glycosylation, Type Iio (CDG2O)

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iio

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

Name: Congenital Disorder of Glycosylation, Type Iio 58 76 30 6
Cdg2o 58 12 60 76
Congenital Disorder of Glycosylation Type Iio 12 60 15
Cdg Iio 58 12 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iio 12 60
Congenital Disorder of Glycosylation Type 2o 12 60
Cdg Syndrome Type Iio 12 60
Ccdc115-Cdg 12 60
Cdg-Iio 60 76
Cdgiio 58 76
Glycosylation, Congenital Disorder of, Type Iio 41
Congenital Disorder of Glycosylation 2o 76
Cdg Iio; Cdgiio 58
Cdgiido 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

33
congenital disorder of glycosylation, type iio:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iio

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2O: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders 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. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iio, also known as cdg2o, is related to liver disease and congenital disorder of glycosylation, type il. An important gene associated with Congenital Disorder of Glycosylation, Type Iio is CCDC115 (Coiled-Coil Domain Containing 115), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include liver, bone and skeletal muscle, and related phenotypes are ptosis and downslanted palpebral fissures

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1.

OMIM : 58 Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016). For a general discussion of CDGs, see CDG1A (212065). (616828)

Related Diseases for Congenital Disorder of Glycosylation, Type Iio

Diseases in the Congenital Disorder of Glycosylation, Type Ii 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 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 in Congenital Disorder of Glycosylation, Type Iq
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 Iio via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 liver disease 10.2
2 congenital disorder of glycosylation, type il 10.1 ALG9 ATP6V0A2
3 epileptic encephalopathy, early infantile, 36 10.1 ALG1 ALG6 CCDC115
4 congenital disorder of glycosylation, type ii 10.0 ATP6V0A2 CCDC115 MAN1B1
5 congenital disorder of glycosylation, type iik 9.9 ATP6V0A2 PGM1
6 tick infestation 9.9 ALPL ALPP
7 congenital disorder of glycosylation, type iim 9.9 ATP6V0A2 MAN1B1 PGM1
8 congenital disorder of glycosylation, type iif 9.8 MAN1B1 PGM1
9 hypophosphatasia, infantile 9.8 ALPL ALPP
10 hypophosphatasia 9.8 ALPL ALPP
11 congenital disorder of glycosylation, type iip 9.7 ATP6AP1 ATP6V0A2 MAN1B1 PGM1
12 testis seminoma 9.6 ALPI ALPL ALPP
13 congenital disorder of glycosylation, type in 8.7 ALG1 ALG3 ALG6 ALG8 ALG9 ATP6AP1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iio:



Diseases related to Congenital Disorder of Glycosylation, Type Iio

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iio

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

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 occasional (7.5%) HP:0000508
2 downslanted palpebral fissures 33 occasional (7.5%) HP:0000494
3 long face 33 occasional (7.5%) HP:0000276
4 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
5 seizures 33 very rare (1%) HP:0001250
6 global developmental delay 33 very rare (1%) HP:0001263
7 elevated hepatic transaminase 33 very rare (1%) HP:0002910
8 hepatic failure 33 very rare (1%) HP:0001399
9 hypercholesterolemia 33 very rare (1%) HP:0003124
10 generalized hypotonia 33 very rare (1%) HP:0001290
11 hepatosplenomegaly 33 very rare (1%) HP:0001433
12 decreased serum ceruloplasmin 33 very rare (1%) HP:0010837
13 abnormal glycosylation 33 very rare (1%) HP:0012345
14 elevated alkaline phosphatase of bone origin 33 very rare (1%) HP:0010639
15 increased ldl cholesterol concentration 33 very rare (1%) HP:0003141
16 splenomegaly 33 HP:0001744
17 hepatomegaly 33 HP:0002240
18 skeletal muscle atrophy 33 HP:0003202
19 cholestatic liver disease 33 HP:0002611
20 cirrhosis 33 HP:0001394
21 prolonged neonatal jaundice 33 HP:0006579
22 copper accumulation in liver 33 HP:0025321

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypercholesterolemia
abnormal liver enzymes
increased serum creatine kinase (in some patients)
type 2 pattern of transferrin, indicating n-glycosylation defect
abnormal apoc-iii glycosylation, indicating o-glycosylation defect
more
Skin Nails Hair Skin:
jaundice, neonatal

Head And Neck Eyes:
downslanting palpebral fissures (in some patients)
ptosis (in some patients)

Hematology:
decreased serum coagulation factors

Abdomen Liver:
hepatomegaly
cirrhosis
liver fibrosis
liver dysfunction
cholestatic liver disease, progressive
more
Muscle Soft Tissue:
hypotonia
muscle atrophy

Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)

Head And Neck Face:
long face (in some patients)
dysmorphic facial features, mild (in some patients)

Clinical features from OMIM:

616828

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iio

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iio

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iio 30 CCDC115

Anatomical Context for Congenital Disorder of Glycosylation, Type Iio

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Iio:

42
Liver, Bone, Skeletal Muscle, Skin, Eye, Testis

Publications for Congenital Disorder of Glycosylation, Type Iio

Articles related to Congenital Disorder of Glycosylation, Type Iio:

# Title Authors Year
1
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. ( 26833332 )
2016

Variations for Congenital Disorder of Glycosylation, Type Iio

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

76
# Symbol AA change Variation ID SNP ID
1 CCDC115 p.Asp11Tyr VAR_075752 rs869025583
2 CCDC115 p.Leu31Ser VAR_075753 rs751325113

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC115 NM_032357.3(CCDC115): c.31G> T (p.Asp11Tyr) single nucleotide variant Pathogenic rs869025583 GRCh38 Chromosome 2, 130342095: 130342095
2 CCDC115 NM_032357.3(CCDC115): c.31G> T (p.Asp11Tyr) single nucleotide variant Pathogenic rs869025583 GRCh37 Chromosome 2, 131099668: 131099668
3 CCDC115 NM_032357.3(CCDC115): c.92T> C (p.Leu31Ser) single nucleotide variant Pathogenic rs751325113 GRCh37 Chromosome 2, 131099607: 131099607
4 CCDC115 NM_032357.3(CCDC115): c.92T> C (p.Leu31Ser) single nucleotide variant Pathogenic rs751325113 GRCh38 Chromosome 2, 130342034: 130342034

Expression for Congenital Disorder of Glycosylation, Type Iio

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

Pathways for Congenital Disorder of Glycosylation, Type Iio

Pathways related to Congenital Disorder of Glycosylation, Type Iio according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 ALG1 ALG3 ALG6 ALG8 ALG9 ALPG
2
Show member pathways
13.51 ALG1 ALG3 ALG6 ALG8 ALG9 ALPG
3
Show member pathways
12.77 ALG1 ALG3 ALG6 ALG8 ALG9 MAN1B1
4
Show member pathways
12.01 ALG1 ALG3 ALG6 ALG8 ALG9
5
Show member pathways
11.91 ALPG ALPI ALPL ALPP
6
Show member pathways
11.63 ALPG ALPI ALPL
7
Show member pathways
10.92 ALPG ALPI ALPL ALPP
8
Show member pathways
10.89 ALG1 ALG3 ALG6 ALG8 ALG9 MAN1B1
9 10.46 ALPG ALPI ALPL ALPP

GO Terms for Congenital Disorder of Glycosylation, Type Iio

Cellular components related to Congenital Disorder of Glycosylation, Type Iio according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.5 ALG1 ALG3 ALG6 ALG8 ALG9 ATP6AP1
2 anchored component of membrane GO:0031225 9.46 ALPG ALPI ALPL ALPP
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.32 ATP6V0A2 CCDC115
4 endoplasmic reticulum GO:0005783 9.23 ALG1 ALG3 ALG6 ALG8 ALG9 ATP6AP1
5 membrane GO:0016020 10.07 ALG1 ALG3 ALG6 ALG8 ALG9 ALPG

Biological processes related to Congenital Disorder of Glycosylation, Type Iio according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.67 ALPG ALPI ALPL ALPP
2 protein glycosylation GO:0006486 9.63 ALG1 ALG3 ALG6 ALG8 ALG9 MAN1B1
3 cellular iron ion homeostasis GO:0006879 9.58 ATP6AP1 ATP6V0A2 CCDC115
4 protein N-linked glycosylation GO:0006487 9.48 ALG6 ALG8
5 transferrin transport GO:0033572 9.46 ATP6AP1 ATP6V0A2
6 ATP hydrolysis coupled proton transport GO:0015991 9.43 ATP6AP1 ATP6V0A2
7 cellular response to increased oxygen levels GO:0036295 9.43 ATP6AP1 ATP6V0A2 CCDC115
8 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.32 ALG6 ALG8
9 mannosylation GO:0097502 9.26 ALG1 ALG3 ALG8 ALG9
10 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.02 ALG1 ALG3 ALG6 ALG8 ALG9

Molecular functions related to Congenital Disorder of Glycosylation, Type Iio according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 9.65 ALPI ALPP PGM1
2 phosphatase activity GO:0016791 9.56 ALPG ALPI ALPL ALPP
3 transferase activity, transferring hexosyl groups GO:0016758 9.46 ALG6 ALG8
4 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.43 ATP6AP1 ATP6V0A2
5 mannosyltransferase activity GO:0000030 9.4 ALG1 ALG9
6 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity GO:0004583 9.37 ALG6 ALG8
7 transferase activity, transferring glycosyl groups GO:0016757 9.35 ALG1 ALG3 ALG6 ALG8 ALG9
8 alpha-1,3-mannosyltransferase activity GO:0000033 9.32 ALG3 ALG8
9 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity GO:0042281 9.16 ALG6 ALG8
10 alkaline phosphatase activity GO:0004035 8.92 ALPG ALPI ALPL ALPP

Sources for Congenital Disorder of Glycosylation, Type Iio

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....