MCID: CNG185
MIFTS: 23

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, Skin diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Muscle diseases, Endocrine 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 57 13
Cdg2g 57 59 75
Congenital Disorder of Glycosylation Type Iig 59 75
Cdg Iig 57 75
Cdg-Iig 59 75
Cdgiig 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iig 59
Cdgii/cog1 Cerebrocostomandibular-Like Syndrome 57
Glycosylation, Congenital Disorder of, Type Iig 40
Congenital Disorder of Glycosylation, Type 2g 73
Congenital Disorder of Glycosylation Type 2g 59
Congenital Disorder of Glycosylation 2g 75
Cdg-Ii Caused by Cog1 Deficiency 75
Cdg Syndrome Type Iig 59
Cdg Iig; Cdgiig 57
Cog1-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
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 57 611209
Orphanet 59 ORPHA263508
UMLS via Orphanet 74 C2931011
ICD10 via Orphanet 34 E77.8
MeSH 44 D018981
UMLS 73 C2931011

Summaries for Congenital Disorder of Glycosylation, Type Iig

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Congenital Disorder of Glycosylation, Type Iig is COG1 (Component Of Oligomeric Golgi Complex 1). Affiliated tissues include bone, and related phenotypes are progressive microcephaly and smooth philtrum

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:

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

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:

41
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
3 COG1 NM_018714.2(COG1): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs774479733 GRCh37 Chromosome 17, 71203381: 71203381
4 COG1 NM_018714.2(COG1): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs774479733 GRCh38 Chromosome 17, 73207242: 73207242
5 COG1 NM_018714.2(COG1): c.85G> A (p.Glu29Lys) single nucleotide variant Uncertain significance rs1032371996 GRCh38 Chromosome 17, 73193154: 73193154
6 COG1 NM_018714.2(COG1): c.85G> A (p.Glu29Lys) single nucleotide variant Uncertain significance rs1032371996 GRCh37 Chromosome 17, 71189293: 71189293

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
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
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