MCID: CNG497
MIFTS: 27

Congenital Disorder of Glycosylation, Type Iio

Categories: Genetic diseases, Metabolic diseases, Endocrine diseases, Rare diseases, Neuronal diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle 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 75 6
Cdg2o 57 59 75
Cdg Iio 57 75
Cdg-Iio 59 75
Cdgiio 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iio 59
Glycosylation, Congenital Disorder of, Type Iio 40
Congenital Disorder of Glycosylation Type Iio 59
Congenital Disorder of Glycosylation Type 2o 59
Congenital Disorder of Glycosylation 2o 75
Cdg Syndrome Type Iio 59
Cdg Iio; Cdgiio 57
Ccdc115-Cdg 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
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 : 75 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, is also known as cdg2o. An important gene associated with Congenital Disorder of Glycosylation, Type Iio is CCDC115 (Coiled-Coil Domain Containing 115). Affiliated tissues include liver, skeletal muscle and bone, and related phenotypes are long face and downslanted palpebral fissures

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 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

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iio

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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

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

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

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

Anatomical Context for Congenital Disorder of Glycosylation, Type Iio

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

41
Liver, Skeletal Muscle, Bone

Publications for Congenital Disorder of Glycosylation, Type Iio

Variations for Congenital Disorder of Glycosylation, Type Iio

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

75
# 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

GO Terms for Congenital Disorder of Glycosylation, Type Iio

Sources for Congenital Disorder of Glycosylation, Type Iio

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
Content
Loading form....