CDG2G
MCID: CNG185
MIFTS: 30

Congenital Disorder of Glycosylation, Type Iig (CDG2G)

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 Iig

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

Name: Congenital Disorder of Glycosylation, Type Iig 58 13
Cdg2g 58 12 60 76
Congenital Disorder of Glycosylation Type Iig 12 60 76
Cdg Iig 58 12 76
Cdgiig 58 12 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iig 12 60
Cdgii/cog1 Cerebrocostomandibular-Like Syndrome 58 12
Cdg-Iig 60 76
Glycosylation, Congenital Disorder of, Type Iig 41
Congenital Disorder of Glycosylation, Type 2g 74
Congenital Disorder of Glycosylation Type 2g 60
Congenital Disorder of Glycosylation 2g 76
Cdg-Ii Caused by Cog1 Deficiency 76
Cdg Syndrome Type Iig 60
Cdg Iig; Cdgiig 58
Cog1-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
cog1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
highly variable phenotype with multisystem involvement
three unrelated patients have been reported (last curated january 2019)


HPO:

33
congenital disorder of glycosylation, type iig:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iig

UniProtKB/Swiss-Prot : 76 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, skin and liver, and related phenotypes are cleft palate and pierre-robin sequence

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in a mutation of COG1 on chromosome 17q25.1.

Description from OMIM: 611209

Related Diseases for Congenital Disorder of Glycosylation, Type Iig

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

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 11.1

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iig

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

33 (show all 43)
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 very rare (1%) HP:0000175
2 pierre-robin sequence 33 very rare (1%) HP:0000201
3 hypertelorism 33 HP:0000316
4 high palate 33 HP:0000218
5 osteopenia 33 HP:0000938
6 muscular hypotonia 33 HP:0001252
7 scoliosis 33 HP:0002650
8 hearing impairment 33 HP:0000365
9 global developmental delay 33 HP:0001263
10 wide nasal bridge 33 HP:0000431
11 delayed speech and language development 33 HP:0000750
12 abnormal facial shape 33 HP:0001999
13 microtia 33 HP:0008551
14 smooth philtrum 33 HP:0000319
15 anteverted nares 33 HP:0000463
16 renal insufficiency 33 HP:0000083
17 anemia 33 HP:0001903
18 micrognathia 33 HP:0000347
19 short foot 33 HP:0001773
20 cryptorchidism 33 HP:0000028
21 intrauterine growth retardation 33 HP:0001511
22 postnatal growth retardation 33 HP:0008897
23 failure to thrive in infancy 33 HP:0001531
24 thrombocytopenia 33 HP:0001873
25 talipes equinovarus 33 HP:0001762
26 rhizomelia 33 HP:0008905
27 hypospadias 33 HP:0000047
28 small hand 33 HP:0200055
29 low-set, posteriorly rotated ears 33 HP:0000368
30 downslanted palpebral fissures 33 HP:0000494
31 upslanted palpebral fissure 33 HP:0000582
32 thin upper lip vermilion 33 HP:0000219
33 abnormality of the ribs 33 HP:0000772
34 vertebral segmentation defect 33 HP:0003422
35 midface retrusion 33 HP:0011800
36 hydronephrosis 33 HP:0000126
37 butterfly vertebrae 33 HP:0003316
38 cerebellar atrophy 33 HP:0001272
39 cerebral atrophy 33 HP:0002059
40 camptodactyly 33 HP:0012385
41 progressive microcephaly 33 HP:0000253
42 abnormal isoelectric focusing of serum transferrin 33 HP:0003160
43 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanted palpebral fissures
upslanted palpebral fissures

Head And Neck Neck:
short neck

Growth Other:
failure to thrive
poor overall growth
intrauterine growth restriction (iugr)

Head And Neck Nose:
wide nasal bridge
upturned nose

Head And Neck Face:
smooth philtrum
micrognathia
midface hypoplasia
dysmorphic facial features

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Genitourinary Kidneys:
hydronephrosis
renal failure

Head And Neck Mouth:
high-arched palate
thin upper lip
cleft palate (in some patients)
pierre-robin sequence (in some patients)

Neurologic Central Nervous System:
cerebellar atrophy, mild
speech delay
delayed walking
global developmental delay, mild
cerebral atrophy, mild

Skeletal Feet:
small feet
club foot

Growth Height:
short stature, rhizomelic

Muscle Soft Tissue:
hypotonia, axial

Head And Neck Ears:
low-set ears
microtia
posteriorly rotated ears
hearing loss
dysmorphic ears

Skeletal:
osteopenia
skeletal abnormalities, variable

Skeletal Spine:
scoliosis
butterfly vertebrae
vertebral abnormalities
vertebral segmentation defects

Head And Neck Head:
microcephaly

Hematology:
anemia
thrombocytopenia

Immunology:
recurrent infections

Skeletal Hands:
camptodactyly
small hands
ulnar deviation of the fingers

Chest Breasts:
widely spaced nipples

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities
rib fusions

Cardiovascular Heart:
cardiac defects

Skin Nails Hair Hair:
low hairline

Laboratory Abnormalities:
abnormal glycosylation of serum transferrin, type 2 pattern

Clinical features from OMIM:

611209

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:

42
Bone, Skin, Liver, Eye

Publications for Congenital Disorder of Glycosylation, Type Iig

Articles related to Congenital Disorder of Glycosylation, Type Iig:

# Title Authors Year
1
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. ( 19008299 )
2009
2
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. ( 16537452 )
2006

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 NM_018714.3(COG1): c.1070+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 73200026: 73200026
3 COG1 NM_018714.3(COG1): c.1070+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 71196165: 71196165
4 COG1 NM_018714.2(COG1): c.2900C> G (p.Pro967Arg) single nucleotide variant Uncertain significance rs147588256 GRCh38 Chromosome 17, 73208408: 73208408
5 COG1 NM_018714.2(COG1): c.2900C> G (p.Pro967Arg) single nucleotide variant Uncertain significance rs147588256 GRCh37 Chromosome 17, 71204547: 71204547
6 COG1 NM_018714.2(COG1): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs774479733 GRCh37 Chromosome 17, 71203381: 71203381
7 COG1 NM_018714.2(COG1): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs774479733 GRCh38 Chromosome 17, 73207242: 73207242
8 COG1 NM_018714.2(COG1): c.85G> A (p.Glu29Lys) single nucleotide variant Uncertain significance rs1032371996 GRCh38 Chromosome 17, 73193154: 73193154
9 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 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
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