CDG2Q
MCID: CNG496
MIFTS: 27

Congenital Disorder of Glycosylation, Type Iiq (CDG2Q)

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 Iiq

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

Name: Congenital Disorder of Glycosylation, Type Iiq 58 76 30 6
Cdg Iiq 58 12 76
Cdg2q 58 12 76
Cog2-Related Congenital Disorder of Glycosylation 12 60
Cog2-Cdg 12 60
Cdgiiq 58 76
Congenital Disorder of Glycosylation Type Iiq 12
Congenital Disorder of Glycosylation 2q 76
Cdg Iiq; Cdgiiq 58
Cdgiidq 12
Cdg-Iiq 76

Characteristics:

Orphanet epidemiological data:

60
cog2-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient has been reported (last curated march 2017)


HPO:

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


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iiq

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2Q: 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. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iiq, is also known as cdg iiq. An important gene associated with Congenital Disorder of Glycosylation, Type Iiq is COG2 (Component Of Oligomeric Golgi Complex 2). Affiliated tissues include liver, pituitary and skin, and related phenotypes are global developmental delay and spastic tetraplegia

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG2 on chromosome 1q42.2.

Description from OMIM: 617395

Related Diseases for Congenital Disorder of Glycosylation, Type Iiq

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

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iiq

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

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 spastic tetraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002510
3 decreased liver function 60 33 hallmark (90%) Very frequent (99-80%) HP:0001410
4 generalized tonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0010818
5 hypoplasia of the corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002079
6 postnatal microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0005484
7 hepatosplenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001433
8 decreased serum ceruloplasmin 60 33 hallmark (90%) Very frequent (99-80%) HP:0010837
9 small pituitary gland 60 33 hallmark (90%) Very frequent (99-80%) HP:0012506
10 diffuse cerebral atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002506
11 decreased circulating copper concentration 33 hallmark (90%) HP:0011967
12 seizures 33 HP:0001250
13 elevated hepatic transaminase 33 HP:0002910
14 hypocupremia 60 Very frequent (99-80%)
15 abnormal glycosylation 33 HP:0012345

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
small pituitary gland
diffuse cerebral atrophy
delayed psychomotor development
spastic quadriplegia
more
Abdomen Liver:
abnormal liver enzymes

Head And Neck Head:
microcephaly, postnatal

Laboratory Abnormalities:
abnormal glycosylation of serum transferrin and apolipoprotein ciii
increased mono-sialo and alpha-galacto transferrin species

Clinical features from OMIM:

617395

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iiq

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iiq

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iiq 30 COG2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iiq

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

42
Liver, Pituitary, Skin, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iiq

Articles related to Congenital Disorder of Glycosylation, Type Iiq:

# Title Authors Year
1
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. ( 24784932 )
2015

Variations for Congenital Disorder of Glycosylation, Type Iiq

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

76
# Symbol AA change Variation ID SNP ID
1 COG2 p.Trp634Gly VAR_078769 rs108530711

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 COG2 NM_007357.2(COG2): c.701dup (p.Tyr234Terfs) duplication Pathogenic rs1085307116 GRCh38 Chromosome 1, 230669462: 230669462
2 COG2 NM_007357.2(COG2): c.701dup (p.Tyr234Terfs) duplication Pathogenic rs1085307116 GRCh37 Chromosome 1, 230805208: 230805208
3 COG2 NM_007357.2(COG2): c.1900T> G (p.Trp634Gly) single nucleotide variant Pathogenic rs1085307117 GRCh37 Chromosome 1, 230825865: 230825865
4 COG2 NM_007357.2(COG2): c.1900T> G (p.Trp634Gly) single nucleotide variant Pathogenic rs1085307117 GRCh38 Chromosome 1, 230690119: 230690119
5 COG2 NM_007357.2(COG2): c.912T> A (p.Asn304Lys) single nucleotide variant Benign rs6681346 GRCh37 Chromosome 1, 230810756: 230810756
6 COG2 NM_007357.2(COG2): c.912T> A (p.Asn304Lys) single nucleotide variant Benign rs6681346 GRCh38 Chromosome 1, 230675010: 230675010
7 COG2 NM_007357.2(COG2): c.1014T> C (p.Asp338=) single nucleotide variant Benign rs113173809 GRCh37 Chromosome 1, 230810858: 230810858
8 COG2 NM_007357.2(COG2): c.1014T> C (p.Asp338=) single nucleotide variant Benign rs113173809 GRCh38 Chromosome 1, 230675112: 230675112
9 COG2 NM_007357.2(COG2): c.2026G> A (p.Ala676Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 230691475: 230691475
10 COG2 NM_007357.2(COG2): c.2026G> A (p.Ala676Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 230827221: 230827221
11 COG2 NM_007357.2(COG2): c.436dup (p.Ile146Asnfs) duplication Pathogenic GRCh37 Chromosome 1, 230800284: 230800284
12 COG2 NM_007357.2(COG2): c.436dup (p.Ile146Asnfs) duplication Pathogenic GRCh38 Chromosome 1, 230664538: 230664538
13 COG2 NM_007357.2(COG2): c.1934+3A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 230690156: 230690156
14 COG2 NM_007357.2(COG2): c.1934+3A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 230825902: 230825902

Expression for Congenital Disorder of Glycosylation, Type Iiq

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

Pathways for Congenital Disorder of Glycosylation, Type Iiq

GO Terms for Congenital Disorder of Glycosylation, Type Iiq

Sources for Congenital Disorder of Glycosylation, Type Iiq

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....