MCID: CNG185
MIFTS: 23

Congenital Disorder of Glycosylation, Type Iig

Categories: Genetic diseases, Endocrine diseases, Liver diseases, Muscle diseases, Neuronal diseases, Rare diseases, Metabolic diseases, Skin diseases, Nephrological diseases, Gastrointestinal diseases, Blood diseases, Mental diseases, Cardiovascular diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iig

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

Name: Congenital Disorder of Glycosylation, Type Iig 53 13
Cdg2g 53 55 71
Congenital Disorder of Glycosylation Type Iig 55 71
Cdg Iig 53 71
Cdg-Iig 55 71
Cdgiig 53 71
Carbohydrate Deficient Glycoprotein Syndrome Type Iig 55
Cdgii/cog1 Cerebrocostomandibular-Like Syndrome 53
Congenital Disorder of Glycosylation, Type 2g 69
Congenital Disorder of Glycosylation Type 2g 55
Congenital Disorder of Glycosylation 2g 71
Cdg-Ii Caused by Cog1 Deficiency 71
Cdg Syndrome Type Iig 55
Cdg Iig; Cdgiig 53
Cog1-Cdg 55

Characteristics:

Orphanet epidemiological data:

55
cog1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
congenital disorder of glycosylation, type iig:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 611209
Orphanet 55 ORPHA263508
UMLS via Orphanet 70 C2931011
ICD10 via Orphanet 33 E77.8
MeSH 41 D018981
UMLS 69 C2931011

Summaries for Congenital Disorder of Glycosylation, Type Iig

UniProtKB/Swiss-Prot : 71 Congenital disorder of glycosylation 2G: A multisystem disorder 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. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iig, also known as cdg2g, is related to cerebrocostomandibular syndrome, and has symptoms including osteopenia, muscular hypotonia and global developmental delay. An important gene associated with Congenital Disorder of Glycosylation, Type Iig is COG1 (Component Of Oligomeric Golgi Complex 1). Affiliated tissues include bone.

Description from OMIM: 611209

Related Diseases for Congenital Disorder of Glycosylation, Type Iig

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

Diseases related to Congenital Disorder of Glycosylation, Type Iig via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebrocostomandibular syndrome 10.9

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iig

Clinical features from OMIM:

611209

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 muscular hypotonia 31 HP:0001252
3 global developmental delay 31 HP:0001263
4 smooth philtrum 31 HP:0000319
5 postnatal growth retardation 31 HP:0008897
6 failure to thrive in infancy 31 HP:0001531
7 rhizomelia 31 HP:0008905
8 low-set, posteriorly rotated ears 31 HP:0000368
9 talipes equinovarus 31 HP:0001762
10 vertebral segmentation defect 31 HP:0003422
11 butterfly vertebrae 31 HP:0003316
12 progressive microcephaly 31 HP:0000253
13 abnormal isoelectric focusing of serum transferrin 31 HP:0003160

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iig

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iig

Anatomical Context for Congenital Disorder of Glycosylation, Type Iig

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

38
Bone

Publications for Congenital Disorder of Glycosylation, Type Iig

Variations for Congenital Disorder of Glycosylation, Type Iig

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COG1 COG1, 1-BP INS, 2659C insertion Pathogenic
2 COG1 COG1, IVS6DS, G-A, +5 single nucleotide variant Pathogenic

Expression for Congenital Disorder of Glycosylation, Type Iig

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

Pathways for Congenital Disorder of Glycosylation, Type Iig

GO Terms for Congenital Disorder of Glycosylation, Type Iig

Sources for Congenital Disorder of Glycosylation, Type Iig

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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