MCID: CNG185
MIFTS: 25

Congenital Disorder of Glycosylation, Type Iig

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Ear diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Liver diseases, Gastrointestinal diseases, Endocrine diseases, Nephrological diseases, Skin diseases, Muscle diseases, Blood 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 54 13
Congenital Disorder of Glycosylation Type Iig 56 71
Congenital Disorder of Glycosylation Type 2g 56 29
Cdg-Iig 56 71
Cdg2g 56 71
Carbohydrate Deficient Glycoprotein Syndrome Type Iig 56
Congenital Disorder of Glycosylation, Type 2g 69
Congenital Disorder of Glycosylation 2g 71
Cdg-Ii Caused by Cog1 Deficiency 71
Cdg Syndrome Type Iig 56
Cog1-Cdg 56
Cdg Iig 71
Cdgiig 71

Characteristics:

Orphanet epidemiological data:

56
cog1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
congenital disorder of glycosylation, type iig:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611209
Orphanet 56 ORPHA263508
UMLS via Orphanet 70 C2931011
ICD10 via Orphanet 34 E77.8
MeSH 42 D018981

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 congenital disorder of glycosylation type iig, is related to cerebrocostomandibular syndrome, and has symptoms including global developmental delay, talipes equinovarus and osteopenia. 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 Ir Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Io
Congenital Disorder of Glycosylation, Type Iiq Congenital Disorder of Glycosylation, Type Iib
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type 1aa
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ii Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Iic Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Iia Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Ia
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Ie
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Iim
Congenital Disorder of Glycosylation, Type Iy Congenital Disorder of Glycosylation Type I/iix

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

id Related Disease Score Top Affiliating Genes
1 cerebrocostomandibular syndrome 10.8

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iig

Clinical features from OMIM:

611209

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

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 talipes equinovarus 32 HP:0001762
3 osteopenia 32 HP:0000938
4 low-set, posteriorly rotated ears 32 HP:0000368
5 postnatal growth retardation 32 HP:0008897
6 rhizomelia 32 HP:0008905
7 smooth philtrum 32 HP:0000319
8 muscular hypotonia 32 HP:0001252
9 butterfly vertebrae 32 HP:0003316
10 failure to thrive in infancy 32 HP:0001531
11 abnormal isoelectric focusing of serum transferrin 32 HP:0003160
12 progressive microcephaly 32 HP:0000253
13 vertebral segmentation defect 32 HP:0003422

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

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

id Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2g 29

Anatomical Context for Congenital Disorder of Glycosylation, Type Iig

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

39
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
id Gene Variation Type Significance SNP ID Assembly Location
1 COG1 COG1, IVS6DS, G-A, +5 single nucleotide variant Pathogenic
2 COG1 COG1, 1-BP INS, 2659C insertion 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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