CDG2O
MCID: CNG497
MIFTS: 40

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 57 74 29 6
Cdg2o 57 12 59 74
Congenital Disorder of Glycosylation Type Iio 12 59 15
Cdg Iio 57 12 74
Carbohydrate Deficient Glycoprotein Syndrome Type Iio 12 59
Congenital Disorder of Glycosylation Type 2o 12 59
Cdg Syndrome Type Iio 12 59
Ccdc115-Cdg 12 59
Cdg-Iio 59 74
Cdgiio 57 74
Glycosylation, Congenital Disorder of, Type Iio 40
Congenital Disorder of Glycosylation 2o 74
Cdg Iio; Cdgiio 57
Cdgiido 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
congenital disorder of glycosylation, type iio:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070267
MeSH 44 D018981
Orphanet 59 ORPHA468684

Summaries for Congenital Disorder of Glycosylation, Type Iio

UniProtKB/Swiss-Prot : 74 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 congenital disorder of glycosylation, type iip 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 : 57 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 Disorder of Multiple Glycosylation 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 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 17)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iip 29.8 PGM1 MAN1B1 ATP6V0A2 ATP6AP1
2 congenital disorder of glycosylation, type il 10.2 ATP6V0A2 ALG9
3 epileptic encephalopathy, early infantile, 36 10.2 CCDC115 ALG6 ALG1
4 hypercholesterolemia, familial, 1 10.2
5 wilson disease 10.2
6 niemann-pick disease 10.2
7 liver disease 10.2
8 congenital disorders of n-linked glycosylation and multiple pathway 10.2
9 congenital disorder of glycosylation, type ii 10.1 MAN1B1 CCDC115 ATP6V0A2
10 congenital disorder of glycosylation, type iik 10.1 PGM1 ATP6V0A2
11 tick infestation 9.9 ALPP ALPL
12 congenital disorder of glycosylation, type iim 9.9 PGM1 MAN1B1 ATP6V0A2
13 congenital disorder of glycosylation, type iif 9.8 PGM1 MAN1B1
14 hypophosphatasia, infantile 9.8 ALPP ALPL
15 hypophosphatasia 9.7 ALPP ALPL
16 testis seminoma 9.3 ALPP ALPL ALPI
17 congenital disorder of glycosylation, type in 8.2 PGM1 MAN1B1 CCDC115 ATP6V0A2 ATP6AP1 ALG9

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:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 occasional (7.5%) HP:0000508
2 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
3 long face 32 occasional (7.5%) HP:0000276
4 elevated serum creatine kinase 32 occasional (7.5%) HP:0003236
5 seizures 32 very rare (1%) HP:0001250
6 global developmental delay 32 very rare (1%) HP:0001263
7 generalized hypotonia 32 very rare (1%) HP:0001290
8 elevated hepatic transaminase 32 very rare (1%) HP:0002910
9 increased ldl cholesterol concentration 32 very rare (1%) HP:0003141
10 hepatic failure 32 very rare (1%) HP:0001399
11 hypercholesterolemia 32 very rare (1%) HP:0003124
12 hepatosplenomegaly 32 very rare (1%) HP:0001433
13 decreased serum ceruloplasmin 32 very rare (1%) HP:0010837
14 abnormal glycosylation 32 very rare (1%) HP:0012345
15 elevated alkaline phosphatase of bone origin 32 very rare (1%) HP:0010639
16 splenomegaly 32 HP:0001744
17 hepatomegaly 32 HP:0002240
18 skeletal muscle atrophy 32 HP:0003202
19 cirrhosis 32 HP:0001394
20 cholestatic liver disease 32 HP:0002611
21 prolonged neonatal jaundice 32 HP:0006579
22 copper accumulation in liver 32 HP:0025321

Symptoms via clinical synopsis from OMIM:

57
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.92 ALPG ALPI ALPL MAPK14

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 29 CCDC115

Anatomical Context for Congenital Disorder of Glycosylation, Type Iio

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

41
Liver, Bone, Skeletal Muscle

Publications for Congenital Disorder of Glycosylation, Type Iio

Articles related to Congenital Disorder of Glycosylation, Type Iio:

# Title Authors PMID Year
1
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. 8 71
26833332 2016
2
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. 8
21362473 2011
3
CCDC115-CDG: A new rare and misleading inherited cause of liver disease. 38
29759592 2018
4
Clinical glycomics for the diagnosis of congenital disorders of glycosylation. 38
29497882 2018
5
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. 38
28108845 2017

Variations for Congenital Disorder of Glycosylation, Type Iio

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CCDC115 NM_001321118.1(CCDC115): c.96+39G> T single nucleotide variant Pathogenic rs869025583 2:131099668-131099668 2:130342095-130342095
2 CCDC115 NM_001321118.1(CCDC115): c.97-90T> C single nucleotide variant Pathogenic rs751325113 2:131099607-131099607 2:130342034-130342034

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

74
# Symbol AA change Variation ID SNP ID
1 CCDC115 p.Asp11Tyr VAR_075752 rs869025583
2 CCDC115 p.Leu31Ser VAR_075753 rs751325113

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 PGM1 MAN1B1 ATP6V0A2 ATP6AP1 ALPP ALPL
2
Show member pathways
13.51 MAN1B1 ALPL ALPI ALPG ALG9 ALG8
3
Show member pathways
12.77 MAN1B1 ALG9 ALG8 ALG6 ALG3 ALG1
4
Show member pathways
12.01 ALG9 ALG8 ALG6 ALG3 ALG1
5 11.91 MAPK14 ATP6V0A2 ATP6AP1
6
Show member pathways
11.79 ALPP ALPL ALPI ALPG
7
Show member pathways
11.63 ALPL ALPI ALPG
8
Show member pathways
11.1 MAN1B1 ALG9 ALG8 ALG6 ALG3 ALG1
9
Show member pathways
10.92 ALPP ALPL ALPI ALPG
10 10.46 ALPP ALPL ALPI ALPG

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 MAN1B1 ATP6AP1 ALG9 ALG8 ALG6 ALG3
2 anchored component of membrane GO:0031225 9.46 ALPP ALPL ALPI ALPG
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.26 CCDC115 ATP6V0A2
4 endoplasmic reticulum GO:0005783 9.23 MAN1B1 CCDC115 ATP6AP1 ALG9 ALG8 ALG6
5 membrane GO:0016020 10.13 MAN1B1 CCDC115 ATP6V0A2 ATP6AP1 ALPP ALPL

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

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

Sources for Congenital Disorder of Glycosylation, Type Iio

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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