CDG2G
MCID: CNG185
MIFTS: 28

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 57 13
Cdg2g 57 12 59 74
Congenital Disorder of Glycosylation Type Iig 12 59 74
Cdg Iig 57 12 74
Cdgiig 57 12 74
Carbohydrate Deficient Glycoprotein Syndrome Type Iig 12 59
Cdgii/cog1 Cerebrocostomandibular-Like Syndrome 57 12
Cdg-Iig 59 74
Glycosylation, Congenital Disorder of, Type Iig 40
Congenital Disorder of Glycosylation, Type 2g 72
Congenital Disorder of Glycosylation Type 2g 59
Congenital Disorder of Glycosylation 2g 74
Cdg-Ii Caused by Cog1 Deficiency 74
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;

OMIM:

57
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:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0070259
MeSH 44 D018981
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 73 C2931011
Orphanet 59 ORPHA263508
UMLS 72 C2931011

Summaries for Congenital Disorder of Glycosylation, Type Iig

UniProtKB/Swiss-Prot : 74 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 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.

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:

# Related Disease Score Top Affiliating Genes
1 cerebrocostomandibular syndrome 11.3

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iig

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

32 (show all 46)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 very rare (1%) HP:0000175
2 pierre-robin sequence 32 very rare (1%) HP:0000201
3 hypertelorism 32 HP:0000316
4 short neck 32 HP:0000470
5 high palate 32 HP:0000218
6 osteopenia 32 HP:0000938
7 muscular hypotonia 32 HP:0001252
8 scoliosis 32 HP:0002650
9 hearing impairment 32 HP:0000365
10 global developmental delay 32 HP:0001263
11 wide nasal bridge 32 HP:0000431
12 delayed speech and language development 32 HP:0000750
13 abnormal facial shape 32 HP:0001999
14 microtia 32 HP:0008551
15 smooth philtrum 32 HP:0000319
16 anteverted nares 32 HP:0000463
17 renal insufficiency 32 HP:0000083
18 micrognathia 32 HP:0000347
19 anemia 32 HP:0001903
20 short foot 32 HP:0001773
21 cryptorchidism 32 HP:0000028
22 intrauterine growth retardation 32 HP:0001511
23 wide intermamillary distance 32 HP:0006610
24 postnatal growth retardation 32 HP:0008897
25 failure to thrive in infancy 32 HP:0001531
26 thrombocytopenia 32 HP:0001873
27 talipes equinovarus 32 HP:0001762
28 rhizomelia 32 HP:0008905
29 hypospadias 32 HP:0000047
30 small hand 32 HP:0200055
31 low-set, posteriorly rotated ears 32 HP:0000368
32 hydronephrosis 32 HP:0000126
33 abnormality of the ribs 32 HP:0000772
34 downslanted palpebral fissures 32 HP:0000494
35 upslanted palpebral fissure 32 HP:0000582
36 recurrent infections 32 HP:0002719
37 thin upper lip vermilion 32 HP:0000219
38 vertebral segmentation defect 32 HP:0003422
39 midface retrusion 32 HP:0011800
40 butterfly vertebrae 32 HP:0003316
41 cerebellar atrophy 32 HP:0001272
42 camptodactyly 32 HP:0012385
43 cerebral atrophy 32 HP:0002059
44 progressive microcephaly 32 HP:0000253
45 abnormal isoelectric focusing of serum transferrin 32 HP:0003160
46 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
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

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

Head And Neck Head:
microcephaly

Hematology:
anemia
thrombocytopenia

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:

41
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. 8 71
19008299 2009
2
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. 8 71
16537452 2006
3
The skeletal manifestations of the congenital disorders of glycosylation. 8
18462449 2008
4
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 71
20301507 2005
5
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COG1 COG1, 1-BP INS, 2659C insertion Pathogenic
2 COG1 NM_018714.3(COG1): c.1070+5G> A single nucleotide variant Pathogenic 17:71196165-71196165 17:73200026-73200026
3 COG1 NM_018714.3(COG1): c.2900C> G (p.Pro967Arg) single nucleotide variant Uncertain significance rs147588256 17:71204547-71204547 17:73208408-73208408
4 COG1 NM_018714.3(COG1): c.2816dup (p.Ala940fs) duplication Uncertain significance 17:71204463-71204463 17:73208324-73208324
5 COG1 NM_018714.3(COG1): c.2626_2629dup (p.Gly877fs) duplication Uncertain significance 17:71202850-71202850 17:73206714-73206717
6 COG1 NM_018714.3(COG1): c.2791G> T (p.Glu931Ter) single nucleotide variant Uncertain significance 17:71203381-71203381 17:73207242-73207242
7 COG1 NM_018714.3(COG1): c.988G> A (p.Glu330Lys) single nucleotide variant Uncertain significance 17:71196078-71196078 17:73199939-73199939
8 COG1 NM_018714.3(COG1): c.2183_2184delinsCA (p.Gly728Ala) indel Uncertain significance 17:71199248-71199249 17:73203109-73203110
9 COG1 NM_018714.3(COG1): c.2929A> G (p.Ser977Gly) single nucleotide variant Uncertain significance 17:71204576-71204576 17:73208437-73208437
10 COG1 NM_018714.3(COG1): c.2791G> A (p.Glu931Lys) single nucleotide variant Uncertain significance rs774479733 17:71203381-71203381 17:73207242-73207242
11 COG1 NM_018714.3(COG1): c.85G> A (p.Glu29Lys) single nucleotide variant Uncertain significance rs1032371996 17:71189293-71189293 17:73193154-73193154

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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