CDG2G
MCID: CNG185
MIFTS: 41

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, Smell/Taste 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 56 13
Congenital Disorder of Glycosylation Type Iig 12 58 73 15
Cdg2g 56 12 58 73
Cdg Iig 56 12 73
Cdgiig 56 12 73
Carbohydrate Deficient Glycoprotein Syndrome Type Iig 12 58
Cdgii/cog1 Cerebrocostomandibular-Like Syndrome 56 12
Cdg-Iig 58 73
Glycosylation, Congenital Disorder of, Type Iig 39
Congenital Disorder of Glycosylation, Type 2g 71
Congenital Disorder of Glycosylation Type 2g 58
Congenital Disorder of Glycosylation 2g 73
Cdg-Ii Caused by Cog1 Deficiency 73
Cdg Syndrome Type Iig 58
Cdg Iig; Cdgiig 56
Cog1-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
cog1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare otorhinolaryngological diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Congenital Disorder of Glycosylation, Type Iig

UniProtKB/Swiss-Prot : 73 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 congenital disorder of glycosylation, type iil. An important gene associated with Congenital Disorder of Glycosylation, Type Iig is COG1 (Component Of Oligomeric Golgi Complex 1), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include bone, and related phenotypes are short neck and osteopenia

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

More information from OMIM: 611209 PS212066

Related Diseases for Congenital Disorder of Glycosylation, Type Iig

Diseases in the Disorder of Multiple Glycosylation 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 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:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 cerebrocostomandibular syndrome 11.3
2 congenital disorder of glycosylation, type iil 10.0 COG1 ALG12
3 congenital disorder of glycosylation, type ih 9.6 ALG8 ALG2
4 polycystic liver disease 9.5 ALG9 ALG8
5 congenital disorder of glycosylation, type iij 9.5 COG1 ALG2 ALG12
6 congenital disorder of glycosylation, type iia 9.4 SLC35C1 ALG2
7 congenital disorders of n-linked glycosylation and multiple pathway 9.4 ALG2 ALG12 ALG11
8 fructose intolerance, hereditary 9.4 SLC35C1 ALG2
9 carbohydrate metabolic disorder 9.3 SLC35C1 ALG2
10 congenital disorder of glycosylation, type iip 9.3 ALG9 ALG8 ALG2
11 congenital disorder of glycosylation, type iib 9.2 SLC35C1 ALG2 ALG12
12 congenital disorder of glycosylation, type iim 9.2 SLC35C1 ALG9 ALG2
13 congenital disorder of glycosylation, type iif 9.1 SLC35C1 ALG8 ALG2
14 congenital disorder of glycosylation, type iii 9.0 COG1 ALG9 ALG8 ALG2
15 congenital disorder of glycosylation, type iid 9.0 SLC35C1 COG1 ALG2 ALG12
16 congenital disorder of glycosylation, type iih 9.0 COG1 ALG9 ALG8 ALG2
17 congenital disorder of glycosylation, type iik 8.9 SLC35C1 ALG8 ALG2 ALG11
18 congenital disorder of glycosylation, type iio 8.8 SLC35C1 ALG9 ALG8 ALG2
19 congenital disorder of glycosylation, type in 7.9 SLC35C1 COG1 ALG9 ALG8 ALG2 ALG12
20 congenital disorder of glycosylation, type ii 7.9 SLC35C1 COG1 ALG9 ALG8 ALG2 ALG12

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iig:



Diseases related to Congenital Disorder of Glycosylation, Type Iig

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iig

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

58 31 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
2 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
5 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
6 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
7 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
8 short long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003026
9 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
10 abnormal macular morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001103
11 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
12 rhizomelia 58 31 frequent (33%) Frequent (79-30%) HP:0008905
13 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
14 cerebellar vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001320
15 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
16 rib fusion 58 31 frequent (33%) Frequent (79-30%) HP:0000902
17 butterfly vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0003316
18 pierre-robin sequence 58 31 very rare (1%) Frequent (79-30%) HP:0000201
19 enlarged cisterna magna 58 31 frequent (33%) Frequent (79-30%) HP:0002280
20 posterior rib gap 58 31 frequent (33%) Frequent (79-30%) HP:0030282
21 type ii transferrin isoform profile 58 31 frequent (33%) Frequent (79-30%) HP:0012301
22 irregularity of vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004582
23 atrial septal dilatation 58 31 frequent (33%) Frequent (79-30%) HP:0011995
24 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
25 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
26 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
27 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
28 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
29 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
30 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
31 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
32 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
33 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
34 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
35 broad neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000475
36 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
37 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
38 flat acetabular roof 58 31 occasional (7.5%) Occasional (29-5%) HP:0003180
39 mild global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011342
40 cerebellar dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007033
41 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
42 progressive microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000253
43 temporal cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007112
44 cleft palate 31 very rare (1%) HP:0000175
45 muscular hypotonia 31 HP:0001252
46 scoliosis 31 HP:0002650
47 hearing impairment 31 HP:0000365
48 global developmental delay 31 HP:0001263
49 delayed speech and language development 31 HP:0000750
50 cryptorchidism 31 HP:0000028

Symptoms via clinical synopsis from OMIM:

56
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:
micrognathia
smooth philtrum
midface hypoplasia
dysmorphic facial features

Hematology:
anemia
thrombocytopenia

Immunology:
recurrent infections

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

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

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
hydronephrosis
renal failure

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:

40
Bone

Publications for Congenital Disorder of Glycosylation, Type Iig

Articles related to Congenital Disorder of Glycosylation, Type Iig:

# Title Authors PMID Year
1
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. 6 56
19008299 2009
2
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. 56 6
16537452 2006
3
The skeletal manifestations of the congenital disorders of glycosylation. 56
18462449 2008
4
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
5
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 61
25192513 2014

Variations for Congenital Disorder of Glycosylation, Type Iig

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

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COG1 COG1, 1-BP INS, 2659Cinsertion Pathogenic 3654
2 COG1 NM_018714.3(COG1):c.1070+5G>ASNV Pathogenic 3655 rs1568296260 17:71196165-71196165 17:73200026-73200026
3 COG1 NM_018714.3(COG1):c.2900C>G (p.Pro967Arg)SNV Uncertain significance 324978 rs147588256 17:71204547-71204547 17:73208408-73208408
4 COG1 NM_018714.3(COG1):c.2791G>A (p.Glu931Lys)SNV Uncertain significance 471235 rs774479733 17:71203381-71203381 17:73207242-73207242
5 COG1 NM_018714.3(COG1):c.85G>A (p.Glu29Lys)SNV Uncertain significance 538566 rs1032371996 17:71189293-71189293 17:73193154-73193154
6 COG1 NM_018714.3(COG1):c.2816dup (p.Ala940fs)duplication Uncertain significance 594850 rs776834154 17:71204463-71204463 17:73208324-73208324
7 COG1 NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs)duplication Uncertain significance 631783 rs1568298983 17:71202850-71202850 17:73206714-73206717
8 COG1 NM_018714.3(COG1):c.2791G>T (p.Glu931Ter)SNV Uncertain significance 631784 rs774479733 17:71203381-71203381 17:73207242-73207242
9 COG1 NM_018714.3(COG1):c.988G>A (p.Glu330Lys)SNV Uncertain significance 662087 17:71196078-71196078 17:73199939-73199939
10 COG1 NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala)indel Uncertain significance 648066 17:71199248-71199249 17:73203109-73203110
11 COG1 NM_018714.3(COG1):c.2929A>G (p.Ser977Gly)SNV Uncertain significance 644686 17:71204576-71204576 17:73208437-73208437

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

Pathways related to Congenital Disorder of Glycosylation, Type Iig according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 SLC35C1 COG1 ALG9 ALG8 ALG2 ALG12
2
Show member pathways
12.59 SLC35C1 COG1 ALG9 ALG8 ALG2 ALG12
3
Show member pathways
11.39 SLC35C1 ALG9 ALG8 ALG2 ALG12 ALG11
4
Show member pathways
11.36 ALG9 ALG8 ALG2 ALG12 ALG11

GO Terms for Congenital Disorder of Glycosylation, Type Iig

Cellular components related to Congenital Disorder of Glycosylation, Type Iig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.73 SLC35C1 ALG9 ALG8 ALG2 ALG12 ALG11
2 membrane GO:0016020 9.5 SLC35C1 COG1 ALG9 ALG8 ALG2 ALG12
3 endoplasmic reticulum GO:0005783 9.46 ALG9 ALG8 ALG12 ALG11
4 endoplasmic reticulum membrane GO:0005789 9.02 ALG9 ALG8 ALG2 ALG12 ALG11

Biological processes related to Congenital Disorder of Glycosylation, Type Iig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.56 ALG9 ALG8 ALG2 ALG12
2 protein N-linked glycosylation GO:0006487 9.5 ALG8 ALG12 ALG11
3 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.33 ALG8 ALG2 ALG11
4 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.26 ALG9 ALG8 ALG2 ALG12
5 mannosylation GO:0097502 9.02 ALG9 ALG8 ALG2 ALG12 ALG11

Molecular functions related to Congenital Disorder of Glycosylation, Type Iig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.65 ALG9 ALG8 ALG2 ALG12 ALG11
2 mannosyltransferase activity GO:0000030 9.16 ALG9 ALG12
3 transferase activity, transferring glycosyl groups GO:0016757 9.02 ALG9 ALG8 ALG2 ALG12 ALG11
4 alpha-1,3-mannosyltransferase activity GO:0000033 8.96 ALG8 ALG2

Sources for Congenital Disorder of Glycosylation, Type Iig

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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