MCID: CNG496
MIFTS: 25

Congenital Disorder of Glycosylation, Type Iiq

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 57 75 29 6
Cdg Iiq 57 75
Cdgiiq 57 75
Cdg2q 57 75
Cog2-Related Congenital Disorder of Glycosylation 59
Congenital Disorder of Glycosylation 2q 75
Cdg Iiq; Cdgiiq 57
Cog2-Cdg 59
Cdg-Iiq 75

Characteristics:

Orphanet epidemiological data:

59
cog2-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 and pituitary, and related phenotypes are global developmental delay and decreased liver function

Description from OMIM: 617395

Related Diseases for Congenital Disorder of Glycosylation, Type Iiq

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 Iiq

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
2 decreased liver function 59 32 hallmark (90%) Very frequent (99-80%) HP:0001410
3 hepatosplenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001433
4 hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002079
5 diffuse cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002506
6 spastic tetraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002510
7 postnatal microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0005484
8 generalized tonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0010818
9 decreased serum ceruloplasmin 59 32 hallmark (90%) Very frequent (99-80%) HP:0010837
10 hypocupremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011967
11 small pituitary gland 59 32 hallmark (90%) Very frequent (99-80%) HP:0012506
12 seizures 32 HP:0001250
13 elevated hepatic transaminases 32 HP:0002910

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 29 COG2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iiq

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

41
Liver, Pituitary

Publications for Congenital Disorder of Glycosylation, Type Iiq

Variations for Congenital Disorder of Glycosylation, Type Iiq

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

75
# Symbol AA change Variation ID SNP ID
1 COG2 p.Trp634Gly VAR_078769

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

6
# 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 GRCh38 Chromosome 1, 230675010: 230675010
6 COG2 NM_007357.2(COG2): c.912T> A (p.Asn304Lys) single nucleotide variant Benign rs6681346 GRCh37 Chromosome 1, 230810756: 230810756
7 COG2 NM_007357.2(COG2): c.1014T> C (p.Asp338=) single nucleotide variant Benign rs113173809 GRCh38 Chromosome 1, 230675112: 230675112
8 COG2 NM_007357.2(COG2): c.1014T> C (p.Asp338=) single nucleotide variant Benign rs113173809 GRCh37 Chromosome 1, 230810858: 230810858

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

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7 CNVD
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10 dbSNP
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17 ExPASy
19 FMA
28 GO
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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
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