MCID: CNG190
MIFTS: 28

Congenital Disorder of Glycosylation, Type Iib

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iib

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

Name: Congenital Disorder of Glycosylation, Type Iib 57 13 73
Congenital Disorder of Glycosylation Type 2b 59 29 6
Glucosidase I Deficiency 57 75
Cdgiib 57 75
Cdg2b 57 59
Carbohydrate Deficient Glycoprotein Syndrome Type Iib 59
Glycosylation, Congenital Disorder of, Type Iib 40
Congenital Disorder of Glycosylation Type Iib 59
Type Iib Congenital Disorder of Glycosylation 75
Glucosidase 1 Deficiency 59
Cdg Syndrome Type Iib 59
Cdg Iib; Cdgiib 57
Glucosidase I 13
Mogs-Cdg 59
Cdg Iib 57
Cdg-Iib 59

Characteristics:

Orphanet epidemiological data:

59
mogs-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two families have been reported (last curated april 2014)


HPO:

32
congenital disorder of glycosylation, type iib:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iib

UniProtKB/Swiss-Prot : 75 Type IIb congenital disorder of glycosylation: Characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iib, also known as congenital disorder of glycosylation type 2b, is related to congenital disorder of glycosylation, type in, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iib is MOGS (Mannosyl-Oligosaccharide Glucosidase). Affiliated tissues include liver, and related phenotypes are seizures and failure to thrive

Description from OMIM: 606056

Related Diseases for Congenital Disorder of Glycosylation, Type Iib

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 Iib via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 9.9

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iib

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
delayed psychomotor development
small corpus callosum

Head And Neck Face:
retrognathia

Skeletal:
recurrent fractures

Skin Nails Hair Hair:
long eyelashes

Skeletal Hands:
overlapping fingers
clenched hands

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
hearing loss, sensorineural

Laboratory Abnormalities:
hypogammaglobulinemia
glucosidase i deficiency in liver and fibroblasts
abnormal urinary oligosaccharides

Abdomen Liver:
hepatomegaly

Head And Neck Head:
prominent occiput

Head And Neck Eyes:
long eyelashes
short palpebral fissures
optic nerve atrophy

Respiratory:
hypoventilation

Skeletal Spine:
thoracic scoliosis

Head And Neck Nose:
broad nose

Abdomen Gastrointestinal:
feeding problems


Clinical features from OMIM:

606056

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001399
4 high palate 32 HP:0000218
5 muscular hypotonia 32 HP:0001252
6 global developmental delay 32 HP:0001263
7 hepatomegaly 32 HP:0002240
8 sensorineural hearing impairment 32 HP:0000407
9 optic atrophy 32 HP:0000648
10 feeding difficulties in infancy 32 HP:0008872
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 retrognathia 32 HP:0000278
13 prominent occiput 32 HP:0000269
14 decreased antibody level in blood 32 HP:0004313
15 recurrent fractures 32 HP:0002757
16 blepharophimosis 32 HP:0000581
17 long eyelashes 32 HP:0000527
18 wide nose 32 HP:0000445
19 hypoventilation 32 HP:0002791
20 hypoplasia of the corpus callosum 32 HP:0002079
21 overlapping fingers 32 HP:0010557
22 cerebral atrophy 32 HP:0002059
23 hand clenching 32 HP:0001188
24 short palpebral fissure 32 HP:0012745
25 generalized hypotonia 32 HP:0001290
26 thoracic scoliosis 32 HP:0002943

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Iib:


seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iib

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Iib

Genetic Tests for Congenital Disorder of Glycosylation, Type Iib

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2b 29 MOGS

Anatomical Context for Congenital Disorder of Glycosylation, Type Iib

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

41
Liver

Publications for Congenital Disorder of Glycosylation, Type Iib

Articles related to Congenital Disorder of Glycosylation, Type Iib:

# Title Authors Year
1
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb). ( 12145188 )
2002
2
Perturbation of free oligosaccharide trafficking in endoplasmic reticulum glucosidase I-deficient and castanospermine-treated cells. ( 11942856 )
2002
3
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. ( 10788335 )
2000

Variations for Congenital Disorder of Glycosylation, Type Iib

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Iib:

75
# Symbol AA change Variation ID SNP ID
1 MOGS p.Arg486Thr VAR_018966 rs121909291
2 MOGS p.Phe652Leu VAR_018967 rs121909292

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

6
(show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 MOGS NM_006302.2(MOGS): c.1457G> C (p.Arg486Thr) single nucleotide variant Pathogenic rs121909291 GRCh37 Chromosome 2, 74689459: 74689459
2 MOGS NM_006302.2(MOGS): c.1457G> C (p.Arg486Thr) single nucleotide variant Pathogenic rs121909291 GRCh38 Chromosome 2, 74462332: 74462332
3 MOGS NM_006302.2(MOGS): c.1954T> C (p.Phe652Leu) single nucleotide variant Pathogenic rs121909292 GRCh37 Chromosome 2, 74688962: 74688962
4 MOGS NM_006302.2(MOGS): c.1954T> C (p.Phe652Leu) single nucleotide variant Pathogenic rs121909292 GRCh38 Chromosome 2, 74461835: 74461835
5 MOGS NM_006302.2(MOGS): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs587777323 GRCh37 Chromosome 2, 74691832: 74691832
6 MOGS NM_006302.2(MOGS): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs587777323 GRCh38 Chromosome 2, 74464705: 74464705
7 MOGS NM_006302.2(MOGS): c.329G> A (p.Arg110His) single nucleotide variant Likely pathogenic rs863225089 GRCh37 Chromosome 2, 74692046: 74692046
8 MOGS NM_006302.2(MOGS): c.329G> A (p.Arg110His) single nucleotide variant Likely pathogenic rs863225089 GRCh38 Chromosome 2, 74464919: 74464919
9 MOGS NM_006302.2(MOGS): c.2017G> A (p.Val673Ile) single nucleotide variant Benign rs114933392 GRCh37 Chromosome 2, 74688899: 74688899
10 MOGS NM_006302.2(MOGS): c.2017G> A (p.Val673Ile) single nucleotide variant Benign rs114933392 GRCh38 Chromosome 2, 74461772: 74461772
11 MOGS NM_006302.2(MOGS): c.2055T> C (p.Tyr685=) single nucleotide variant Conflicting interpretations of pathogenicity rs202094225 GRCh37 Chromosome 2, 74688861: 74688861
12 MOGS NM_006302.2(MOGS): c.2055T> C (p.Tyr685=) single nucleotide variant Conflicting interpretations of pathogenicity rs202094225 GRCh38 Chromosome 2, 74461734: 74461734
13 MOGS NM_006302.2(MOGS): c.2353G> A (p.Gly785Ser) single nucleotide variant Benign/Likely benign rs35533773 GRCh38 Chromosome 2, 74461436: 74461436
14 MOGS NM_006302.2(MOGS): c.2353G> A (p.Gly785Ser) single nucleotide variant Benign/Likely benign rs35533773 GRCh37 Chromosome 2, 74688563: 74688563
15 MOGS NM_006302.2(MOGS): c.2032C> T (p.Arg678Trp) single nucleotide variant Benign/Likely benign rs13405869 GRCh37 Chromosome 2, 74688884: 74688884
16 MOGS NM_006302.2(MOGS): c.2032C> T (p.Arg678Trp) single nucleotide variant Benign/Likely benign rs13405869 GRCh38 Chromosome 2, 74461757: 74461757
17 MOGS NM_006302.2(MOGS): c.1587C> T (p.Asp529=) single nucleotide variant Conflicting interpretations of pathogenicity rs190772368 GRCh37 Chromosome 2, 74689329: 74689329
18 MOGS NM_006302.2(MOGS): c.1587C> T (p.Asp529=) single nucleotide variant Conflicting interpretations of pathogenicity rs190772368 GRCh38 Chromosome 2, 74462202: 74462202
19 MOGS NM_006302.2(MOGS): c.1509A> C (p.Leu503=) single nucleotide variant Conflicting interpretations of pathogenicity rs759481390 GRCh37 Chromosome 2, 74689407: 74689407
20 MOGS NM_006302.2(MOGS): c.1509A> C (p.Leu503=) single nucleotide variant Conflicting interpretations of pathogenicity rs759481390 GRCh38 Chromosome 2, 74462280: 74462280
21 MOGS NM_006302.2(MOGS): c.85C> G (p.Arg29Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs369653963 GRCh38 Chromosome 2, 74465163: 74465163
22 MOGS NM_006302.2(MOGS): c.85C> G (p.Arg29Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs369653963 GRCh37 Chromosome 2, 74692290: 74692290
23 MOGS NM_006302.2(MOGS): c.1245C> G (p.Ile415Met) single nucleotide variant Benign rs34838944 GRCh37 Chromosome 2, 74689671: 74689671
24 MOGS NM_006302.2(MOGS): c.1245C> G (p.Ile415Met) single nucleotide variant Benign rs34838944 GRCh38 Chromosome 2, 74462544: 74462544
25 MOGS NM_006302.2(MOGS): c.12C> G (p.Gly4=) single nucleotide variant Benign/Likely benign rs555329045 GRCh37 Chromosome 2, 74692363: 74692363
26 MOGS NM_006302.2(MOGS): c.12C> G (p.Gly4=) single nucleotide variant Benign/Likely benign rs555329045 GRCh38 Chromosome 2, 74465236: 74465236
27 MOGS NM_006302.2(MOGS): c.2112C> T (p.Pro704=) single nucleotide variant Benign rs561758565 GRCh38 Chromosome 2, 74461677: 74461677
28 MOGS NM_006302.2(MOGS): c.2112C> T (p.Pro704=) single nucleotide variant Benign rs561758565 GRCh37 Chromosome 2, 74688804: 74688804
29 MOGS NM_006302.2(MOGS): c.311A> C (p.Tyr104Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 74464937: 74464937
30 MOGS NM_006302.2(MOGS): c.311A> C (p.Tyr104Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 74692064: 74692064
31 MOGS NM_006302.2(MOGS): c.1825C> T (p.Arg609Cys) single nucleotide variant Uncertain significance rs369797433 GRCh37 Chromosome 2, 74689091: 74689091
32 MOGS NM_006302.2(MOGS): c.1825C> T (p.Arg609Cys) single nucleotide variant Uncertain significance rs369797433 GRCh38 Chromosome 2, 74461964: 74461964
33 MOGS NM_006302.2(MOGS): c.436T> G (p.Tyr146Asp) single nucleotide variant Uncertain significance rs576166441 GRCh37 Chromosome 2, 74691766: 74691766
34 MOGS NM_006302.2(MOGS): c.436T> G (p.Tyr146Asp) single nucleotide variant Uncertain significance rs576166441 GRCh38 Chromosome 2, 74464639: 74464639
35 MOGS NM_006302.2(MOGS): c.1049C> G (p.Pro350Arg) single nucleotide variant Uncertain significance rs754475101 GRCh38 Chromosome 2, 74462740: 74462740
36 MOGS NM_006302.2(MOGS): c.1049C> G (p.Pro350Arg) single nucleotide variant Uncertain significance rs754475101 GRCh37 Chromosome 2, 74689867: 74689867
37 MOGS NM_006302.2(MOGS): c.1581C> A (p.Asp527Glu) single nucleotide variant Likely benign rs200508287 GRCh37 Chromosome 2, 74689335: 74689335
38 MOGS NM_006302.2(MOGS): c.1581C> A (p.Asp527Glu) single nucleotide variant Likely benign rs200508287 GRCh38 Chromosome 2, 74462208: 74462208
39 MOGS NM_006302.2(MOGS): c.1294G> C (p.Val432Leu) single nucleotide variant Likely benign rs552488837 GRCh37 Chromosome 2, 74689622: 74689622
40 MOGS NM_006302.2(MOGS): c.1294G> C (p.Val432Leu) single nucleotide variant Likely benign rs552488837 GRCh38 Chromosome 2, 74462495: 74462495
41 MOGS NM_006302.2(MOGS): c.947A> T (p.Gln316Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 74689969: 74689969
42 MOGS NM_006302.2(MOGS): c.947A> T (p.Gln316Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 74462842: 74462842
43 MOGS NM_006302.2(MOGS): c.858G> C (p.Gln286His) single nucleotide variant Uncertain significance rs202095654 GRCh37 Chromosome 2, 74690058: 74690058
44 MOGS NM_006302.2(MOGS): c.858G> C (p.Gln286His) single nucleotide variant Uncertain significance rs202095654 GRCh38 Chromosome 2, 74462931: 74462931
45 MOGS NM_006302.2(MOGS): c.664G> A (p.Gly222Arg) single nucleotide variant Likely benign rs3213671 GRCh38 Chromosome 2, 74463302: 74463302
46 MOGS NM_006302.2(MOGS): c.664G> A (p.Gly222Arg) single nucleotide variant Likely benign rs3213671 GRCh37 Chromosome 2, 74690429: 74690429
47 MOGS NM_006302.2(MOGS): c.1944G> A (p.Glu648=) single nucleotide variant Benign/Likely benign rs201547060 GRCh37 Chromosome 2, 74688972: 74688972
48 MOGS NM_006302.2(MOGS): c.1944G> A (p.Glu648=) single nucleotide variant Benign/Likely benign rs201547060 GRCh38 Chromosome 2, 74461845: 74461845
49 MOGS NM_006302.2(MOGS): c.894C> T (p.Leu298=) single nucleotide variant Benign rs146748462 GRCh37 Chromosome 2, 74690022: 74690022
50 MOGS NM_006302.2(MOGS): c.894C> T (p.Leu298=) single nucleotide variant Benign rs146748462 GRCh38 Chromosome 2, 74462895: 74462895

Expression for Congenital Disorder of Glycosylation, Type Iib

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Iib.

Pathways for Congenital Disorder of Glycosylation, Type Iib

GO Terms for Congenital Disorder of Glycosylation, Type Iib

Sources for Congenital Disorder of Glycosylation, Type Iib

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