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, Smell/Taste 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 56 73 29 6
Cdg2o 56 12 58 73
Congenital Disorder of Glycosylation Type Iio 12 58 15
Cdg Iio 56 12 73
Carbohydrate Deficient Glycoprotein Syndrome Type Iio 12 58
Congenital Disorder of Glycosylation Type 2o 12 58
Cdg Syndrome Type Iio 12 58
Ccdc115-Cdg 12 58
Cdg-Iio 58 73
Cdgiio 56 73
Glycosylation, Congenital Disorder of, Type Iio 39
Congenital Disorder of Glycosylation 2o 73
Cdg Iio; Cdgiio 56
Cdgiido 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
congenital disorder of glycosylation, type iio:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Congenital Disorder of Glycosylation, Type Iio

UniProtKB/Swiss-Prot : 73 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 disorders of n-linked glycosylation and multiple pathway and congenital disorder of glycosylation, type iip. 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 of proteins and Transport to the Golgi and subsequent modification. 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 : 56 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 25)
# Related Disease Score Top Affiliating Genes
1 congenital disorders of n-linked glycosylation and multiple pathway 29.5 ALG6 ALG2 ALG1
2 congenital disorder of glycosylation, type iip 27.0 TMEM199 CCDC115 ATP6AP1 ALG9 ALG8 ALG6
3 hypercholesterolemia, familial, 1 10.2
4 wilson disease 10.2
5 niemann-pick disease 10.2
6 liver disease 10.2
7 myopathy, x-linked, with excessive autophagy 10.1 TMEM199 CCDC115
8 congenital disorder of glycosylation, type iin 9.9 TMEM199 CCDC115 ALG8
9 congenital disorder of glycosylation, type ih 9.8 ALG8 ALG2
10 protein-losing enteropathy 9.8 ALG8 ALG6
11 congenital disorder of glycosylation, type iid 9.7 SLC35C1 ALG2
12 fructose intolerance, hereditary 9.7 SLC35C1 ALG2
13 congenital disorder of glycosylation, type iib 9.5 SLC35C1 ALG2 ALG1
14 congenital disorder of glycosylation, type iia 9.4 SLC35C1 ALG2 ALG1
15 esotropia 9.4 ALG9 ALG6
16 carbohydrate metabolic disorder 9.4 SLC35C1 ALG6 ALG2
17 polycystic liver disease 9.3 ALG9 ALG8
18 congenital disorder of glycosylation, type iih 9.3 ALG9 ALG8 ALG2
19 congenital disorder of glycosylation, type iig 8.9 SLC35C1 ALG9 ALG8 ALG2
20 congenital disorder of glycosylation, type iii 8.9 ALG9 ALG8 ALG6 ALG2
21 congenital disorder of glycosylation, type iik 8.8 SLC35C1 ALG8 ALG6 ALG2 ALG1
22 congenital disorder of glycosylation, type iif 8.8 SLC35C1 ALG8 ALG6 ALG2 ALG1
23 congenital disorder of glycosylation, type iim 8.5 SLC35C1 ALG9 ALG6 ALG2 ALG1
24 congenital disorder of glycosylation, type ii 7.4 TMEM199 SLC35C1 CCDC115 ATP6AP1 ALG9 ALG8
25 congenital disorder of glycosylation, type in 7.4 TMEM199 SLC35C1 CCDC115 ATP6AP1 ALG9 ALG8

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:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 occasional (7.5%) HP:0000508
2 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
3 long face 31 occasional (7.5%) HP:0000276
4 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
5 seizures 31 very rare (1%) HP:0001250
6 global developmental delay 31 very rare (1%) HP:0001263
7 generalized hypotonia 31 very rare (1%) HP:0001290
8 elevated hepatic transaminase 31 very rare (1%) HP:0002910
9 increased ldl cholesterol concentration 31 very rare (1%) HP:0003141
10 hepatic failure 31 very rare (1%) HP:0001399
11 hypercholesterolemia 31 very rare (1%) HP:0003124
12 hepatosplenomegaly 31 very rare (1%) HP:0001433
13 decreased serum ceruloplasmin 31 very rare (1%) HP:0010837
14 abnormal glycosylation 31 very rare (1%) HP:0012345
15 elevated alkaline phosphatase of bone origin 31 very rare (1%) HP:0010639
16 splenomegaly 31 HP:0001744
17 hepatomegaly 31 HP:0002240
18 skeletal muscle atrophy 31 HP:0003202
19 cirrhosis 31 HP:0001394
20 cholestatic liver disease 31 HP:0002611
21 prolonged neonatal jaundice 31 HP:0006579
22 copper accumulation in liver 31 HP:0025321

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation, Type Iio:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.17 ALG1 ALG2 ALG6 ALG8 ALG9 ATP6AP1

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:

40
Liver, Bone, Skeletal Muscle, Eye, Skin

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. 56 6
26833332 2016
2
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. 56
21362473 2011
3
CCDC115-CDG: A new rare and misleading inherited cause of liver disease. 61
29759592 2018
4
Clinical glycomics for the diagnosis of congenital disorders of glycosylation. 61
29497882 2018
5
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. 61
28108845 2017

Variations for Congenital Disorder of Glycosylation, Type Iio

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC115 NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr)SNV Pathogenic 218963 rs869025583 2:131099668-131099668 2:130342095-130342095
2 CCDC115 NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser)SNV Pathogenic 218967 rs751325113 2:131099607-131099607 2:130342034-130342034

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

73
# 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
13.16 SLC35C1 ALG9 ALG8 ALG6 ALG2 ALG1
2
Show member pathways
12.52 SLC35C1 ALG9 ALG8 ALG6 ALG2 ALG1
3
Show member pathways
11.39 SLC35C1 ALG9 ALG8 ALG6 ALG2 ALG1
4
Show member pathways
11.36 ALG9 ALG8 ALG6 ALG2 ALG1

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 integral component of membrane GO:0016021 9.92 TMEM199 SLC35C1 ATP6AP1 ALG9 ALG8 ALG6
2 membrane GO:0016020 9.91 TMEM199 SLC35C1 CCDC115 ATP6AP1 ALG9 ALG8
3 endoplasmic reticulum GO:0005783 9.5 TMEM199 CCDC115 ATP6AP1 ALG9 ALG8 ALG6
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.37 TMEM199 ATP6AP1
5 endoplasmic reticulum membrane GO:0005789 9.17 TMEM199 ATP6AP1 ALG9 ALG8 ALG6 ALG2
6 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.16 TMEM199 CCDC115

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.72 ALG9 ALG8 ALG6 ALG2 ALG1
2 cellular iron ion homeostasis GO:0006879 9.58 TMEM199 CCDC115 ATP6AP1
3 protein N-linked glycosylation GO:0006487 9.48 ALG8 ALG6
4 lysosomal lumen acidification GO:0007042 9.46 TMEM199 CCDC115
5 vacuolar proton-transporting V-type ATPase complex assembly GO:0070072 9.43 TMEM199 CCDC115
6 cellular response to increased oxygen levels GO:0036295 9.43 TMEM199 CCDC115 ATP6AP1
7 lysosomal protein catabolic process GO:1905146 9.37 TMEM199 CCDC115
8 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.33 ALG8 ALG6 ALG2
9 mannosylation GO:0097502 9.26 ALG9 ALG8 ALG2 ALG1
10 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.02 ALG9 ALG8 ALG6 ALG2 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 transferase activity GO:0016740 9.8 ALG9 ALG8 ALG6 ALG2 ALG1
2 transferase activity, transferring hexosyl groups GO:0016758 9.37 ALG8 ALG6
3 mannosyltransferase activity GO:0000030 9.32 ALG9 ALG1
4 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity GO:0004583 9.26 ALG8 ALG6
5 alpha-1,3-mannosyltransferase activity GO:0000033 9.16 ALG8 ALG2
6 transferase activity, transferring glycosyl groups GO:0016757 9.02 ALG9 ALG8 ALG6 ALG2 ALG1
7 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity GO:0042281 8.96 ALG8 ALG6

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....