MCID: CNG412
MIFTS: 46

Congenital Disorder of Glycosylation, Type Ii

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Liver diseases, Skin diseases, Metabolic diseases, Fetal diseases, Rare 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 Ii

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

Name: Congenital Disorder of Glycosylation, Type Ii 57 13 73
Congenital Disorder of Glycosylation Type Ii 12 59 75 15
Congenital Disorder of Glycosylation Type 1i 59 29 6
Cdg1i 57 59 75
Cdg2e 57 59 75
Congenital Disorder of Glycosylation, Type Iie 57 13
Congenital Disorder of Glycosylation Type Iie 59 75
Congenital Disorder of Glycosylation Type 2e 59 73
Cdg Iie 57 75
Cdg-Iie 59 75
Cdg Ii 57 75
Cdgiie 57 75
Cdg-Ii 59 75
Cdgii 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iie 59
Carbohydrate Deficient Glycoprotein Syndrome Type Ii 59
Congenital Disorders of Glycosylation Type Ii 37
Glycosylation, Congenital Disorder of, Type Iie 40
Glycosylation, Congenital Disorder of, Type Ii 40
Congenital Disorders of Glycosylation Type Ii 6
Congenital Disorder of Glycosylation Type 2a 73
Congenital Disorder of Glycosylation 1i 75
Congenital Disorder of Glycosylation 2e 75
Mannosyltransferase 2 Deficiency 59
Cdg Syndrome Type Iie 59
Cdg Syndrome Type Ii 59
Cdg Iie; Cdgiie 57
Cdg Ii; Cdgii 57
Cog7-Cdg 59
Alg2-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
cog7-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
alg2-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
one patient has been reported (last curated february 2015)


HPO:

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


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ii

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 1I: A form of congenital disorder of glycosylation, 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. Congenital disorder of glycosylation 2E: 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ii, also known as congenital disorder of glycosylation type ii, is related to congenital disorder of glycosylation, type in and congenital disorder of glycosylation, type iia, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Ii is ALG2 (ALG2, Alpha-1,3/1,6-Mannosyltransferase), and among its related pathways/superpathways are N-Glycan biosynthesis and Metabolism of proteins. Affiliated tissues include skin and liver, and related phenotypes are muscular hypotonia and hypertrophic cardiomyopathy

Disease Ontology : 12 A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.

Description from OMIM: 607906 608779

Related Diseases for Congenital Disorder of Glycosylation, Type Ii

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 27.3 ALG2 COG1 COG7 ENSG00000260371 MAN1B1 TF
2 congenital disorder of glycosylation, type iia 11.9
3 man1b1-cdg 11.3
4 congenital disorder of glycosylation, type iy 11.2
5 congenital disorder of glycosylation, type ic 11.0
6 congenital disorder of glycosylation, type iig 10.9
7 ssr4-cdg 10.9
8 ancylostomiasis 9.4 SERPINA1 TF
9 epileptic encephalopathy, early infantile, 36 9.4 SERPINA1 TF
10 retinitis pigmentosa 7 9.3 SERPINA1 TF
11 siderosis 9.2 SERPINA1 TF
12 testicular yolk sac tumor 9.1 SERPINA1 TF
13 fructose intolerance, hereditary 9.1 ALG2 SERPINA1 TF
14 inherited metabolic disorder 8.9 SERPINA1 TF

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



Diseases related to Congenital Disorder of Glycosylation, Type Ii

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataract
coloboma
poor vision

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
increased di- and asialo-transferrin characteristic of type 1 pattern

Neurologic Central Nervous System:
seizures
hyperreflexia
hypsarrhythmia
mental retardation
delayed psychomotor development, severe
more
Hematology:
coagulation abnormalities


Clinical features from OMIM:

607906 608779

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

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
3 abnormality of immune system physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0010978
4 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
5 iris coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000612
6 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
7 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
8 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
9 visual impairment 32 HP:0000505
10 coloboma 32 HP:0000589
11 intellectual disability 32 HP:0001249
12 global developmental delay 32 HP:0001263
13 hyperreflexia 32 HP:0001347
14 abnormality of coagulation 32 HP:0001928
15 hepatomegaly 32 HP:0002240
16 hypsarrhythmia 32 HP:0002521

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


seizures

GenomeRNAi Phenotypes related to Congenital Disorder of Glycosylation, Type Ii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 8.62 COG1 COG8

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ii

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Ii

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1i 29 ALG2

Anatomical Context for Congenital Disorder of Glycosylation, Type Ii

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

41
Skin, Liver

Publications for Congenital Disorder of Glycosylation, Type Ii

Articles related to Congenital Disorder of Glycosylation, Type Ii:

# Title Authors Year
1
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis. ( 27401145 )
2017
2
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. ( 16537452 )
2006
3
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. ( 16037491 )
2005

Variations for Congenital Disorder of Glycosylation, Type Ii

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

6
(show top 50) (show all 69)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG2 NM_033087.3(ALG2): c.1040delG (p.Gly347Valfs) deletion Pathogenic rs387906281 GRCh37 Chromosome 9, 101980427: 101980427
2 ALG2 NM_033087.3(ALG2): c.1040delG (p.Gly347Valfs) deletion Pathogenic rs387906281 GRCh38 Chromosome 9, 99218145: 99218145
3 ALG2 NM_033087.3(ALG2): c.393G> T (p.Lys131Asn) single nucleotide variant Pathogenic rs730880304 GRCh38 Chromosome 9, 99218792: 99218792
4 ALG2 NM_033087.3(ALG2): c.393G> T (p.Lys131Asn) single nucleotide variant Pathogenic rs730880304 GRCh37 Chromosome 9, 101981074: 101981074
5 COG7 NM_153603.3(COG7): c.169+4A> C single nucleotide variant Pathogenic GRCh38 Chromosome 16, 23452822: 23452822
6 COG7 NM_153603.3(COG7): c.169+4A> C single nucleotide variant Pathogenic GRCh37 Chromosome 16, 23464143: 23464143
7 COG7 NM_153603.3(COG7): c.170-7A> G single nucleotide variant Pathogenic GRCh38 Chromosome 16, 23445968: 23445968
8 COG7 NM_153603.3(COG7): c.170-7A> G single nucleotide variant Pathogenic GRCh37 Chromosome 16, 23457289: 23457289
9 ALG2 NM_033087.3(ALG2): c.17G> C (p.Gly6Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180849348 GRCh37 Chromosome 9, 101984160: 101984160
10 ALG2 NM_033087.3(ALG2): c.17G> C (p.Gly6Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180849348 GRCh38 Chromosome 9, 99221878: 99221878
11 ALG2 NM_033087.3(ALG2): c.84C> G (p.Gly28=) single nucleotide variant Benign/Likely benign rs61744789 GRCh37 Chromosome 9, 101984093: 101984093
12 ALG2 NM_033087.3(ALG2): c.84C> G (p.Gly28=) single nucleotide variant Benign/Likely benign rs61744789 GRCh38 Chromosome 9, 99221811: 99221811
13 COG7 NM_153603.3(COG7): c.323dupT (p.Leu108Phefs) duplication Pathogenic rs797044712 GRCh37 Chromosome 16, 23456481: 23456481
14 COG7 NM_153603.3(COG7): c.323dupT (p.Leu108Phefs) duplication Pathogenic rs797044712 GRCh38 Chromosome 16, 23445160: 23445160
15 CCDC115 NM_032357.3(CCDC115): c.31G> T (p.Asp11Tyr) single nucleotide variant Pathogenic rs869025583 GRCh38 Chromosome 2, 130342095: 130342095
16 CCDC115 NM_032357.3(CCDC115): c.31G> T (p.Asp11Tyr) single nucleotide variant Pathogenic rs869025583 GRCh37 Chromosome 2, 131099668: 131099668
17 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh38 Chromosome 17, 28357762: 28357762
18 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh37 Chromosome 17, 26684785: 26684785
19 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh38 Chromosome 17, 28357690: 28357690
20 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh37 Chromosome 17, 26684713: 26684713
21 CCDC115 NM_032357.3(CCDC115): c.92T> C (p.Leu31Ser) single nucleotide variant Pathogenic rs751325113 GRCh37 Chromosome 2, 131099607: 131099607
22 CCDC115 NM_032357.3(CCDC115): c.92T> C (p.Leu31Ser) single nucleotide variant Pathogenic rs751325113 GRCh38 Chromosome 2, 130342034: 130342034
23 TMEM199 NM_152464.2(TMEM199): c.40G> C (p.Ala14Pro) single nucleotide variant Pathogenic rs869025586 GRCh38 Chromosome 17, 28357710: 28357710
24 TMEM199 NM_152464.2(TMEM199): c.40G> C (p.Ala14Pro) single nucleotide variant Pathogenic rs869025586 GRCh37 Chromosome 17, 26684733: 26684733
25 TMEM199 NM_152464.2(TMEM199): c.376-1G> A single nucleotide variant Pathogenic rs869025587 GRCh37 Chromosome 17, 26687551: 26687551
26 TMEM199 NM_152464.2(TMEM199): c.376-1G> A single nucleotide variant Pathogenic rs869025587 GRCh38 Chromosome 17, 28360528: 28360528
27 ALG2 NM_033087.3(ALG2): c.30C> G (p.Asp10Glu) single nucleotide variant Benign/Likely benign rs7023652 GRCh37 Chromosome 9, 101984147: 101984147
28 ALG2 NM_033087.3(ALG2): c.30C> G (p.Asp10Glu) single nucleotide variant Benign/Likely benign rs7023652 GRCh38 Chromosome 9, 99221865: 99221865
29 CCDC115; IMP4; MZT2B; PTPN18; SMPD4; TUBA3E NC_000002.11 deletion no interpretation for the single variant GRCh37 Chromosome 2, 130939272: 131116671
30 ALG2 NM_033087.3(ALG2): c.129C> G (p.Arg43=) single nucleotide variant Benign/Likely benign rs35055733 GRCh37 Chromosome 9, 101984048: 101984048
31 ALG2 NM_033087.3(ALG2): c.129C> G (p.Arg43=) single nucleotide variant Benign/Likely benign rs35055733 GRCh38 Chromosome 9, 99221766: 99221766
32 ALG2 NM_033087.3(ALG2): c.1132C> T (p.Arg378Cys) single nucleotide variant Uncertain significance rs56393253 GRCh37 Chromosome 9, 101980335: 101980335
33 ALG2 NM_033087.3(ALG2): c.1132C> T (p.Arg378Cys) single nucleotide variant Uncertain significance rs56393253 GRCh38 Chromosome 9, 99218053: 99218053
34 ALG2 NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr) single nucleotide variant Uncertain significance rs138258236 GRCh38 Chromosome 9, 99218011: 99218011
35 ALG2 NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr) single nucleotide variant Uncertain significance rs138258236 GRCh37 Chromosome 9, 101980293: 101980293
36 ALG2 NM_033087.3(ALG2): c.159C> T (p.His53=) single nucleotide variant Conflicting interpretations of pathogenicity rs527683080 GRCh37 Chromosome 9, 101984018: 101984018
37 ALG2 NM_033087.3(ALG2): c.159C> T (p.His53=) single nucleotide variant Conflicting interpretations of pathogenicity rs527683080 GRCh38 Chromosome 9, 99221736: 99221736
38 ALG2 NM_033087.3(ALG2): c.304C> T (p.Leu102=) single nucleotide variant Conflicting interpretations of pathogenicity rs749236548 GRCh37 Chromosome 9, 101983873: 101983873
39 ALG2 NM_033087.3(ALG2): c.304C> T (p.Leu102=) single nucleotide variant Conflicting interpretations of pathogenicity rs749236548 GRCh38 Chromosome 9, 99221591: 99221591
40 ALG2 NM_033087.3(ALG2): c.288C> T (p.Phe96=) single nucleotide variant Benign/Likely benign rs542863968 GRCh38 Chromosome 9, 99221607: 99221607
41 ALG2 NM_033087.3(ALG2): c.288C> T (p.Phe96=) single nucleotide variant Benign/Likely benign rs542863968 GRCh37 Chromosome 9, 101983889: 101983889
42 ALG2 NM_033087.3(ALG2): c.167C> T (p.Pro56Leu) single nucleotide variant Benign rs201959100 GRCh37 Chromosome 9, 101984010: 101984010
43 ALG2 NM_033087.3(ALG2): c.167C> T (p.Pro56Leu) single nucleotide variant Benign rs201959100 GRCh38 Chromosome 9, 99221728: 99221728
44 ALG2 NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs) indel Uncertain significance GRCh37 Chromosome 9, 101980411: 101980412
45 ALG2 NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs) indel Uncertain significance GRCh38 Chromosome 9, 99218129: 99218130
46 ALG2 NM_033087.3(ALG2): c.443A> G (p.Asp148Gly) single nucleotide variant Uncertain significance rs369670496 GRCh37 Chromosome 9, 101981024: 101981024
47 ALG2 NM_033087.3(ALG2): c.443A> G (p.Asp148Gly) single nucleotide variant Uncertain significance rs369670496 GRCh38 Chromosome 9, 99218742: 99218742
48 ALG2 NM_033087.3(ALG2): c.729A> T (p.Ala243=) single nucleotide variant Likely benign rs748947069 GRCh37 Chromosome 9, 101980738: 101980738
49 ALG2 NM_033087.3(ALG2): c.729A> T (p.Ala243=) single nucleotide variant Likely benign rs748947069 GRCh38 Chromosome 9, 99218456: 99218456
50 ALG2 NM_033087.3(ALG2): c.348+6G> A single nucleotide variant Uncertain significance rs368075764 GRCh37 Chromosome 9, 101983823: 101983823

Expression for Congenital Disorder of Glycosylation, Type Ii

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

Pathways for Congenital Disorder of Glycosylation, Type Ii

Pathways related to Congenital Disorder of Glycosylation, Type Ii according to KEGG:

37
# Name Kegg Source Accession
1 N-Glycan biosynthesis hsa00510

GO Terms for Congenital Disorder of Glycosylation, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 COG1 COG4 COG7 COG8 MAN1B1 MAN2A1
2 Golgi membrane GO:0000139 9.5 COG1 COG4 COG7 COG8 MAN1B1 MAN2A1
3 trans-Golgi network membrane GO:0032588 9.46 COG1 COG4 COG7 COG8
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.37 SERPINA1 TMEM199
5 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.32 CCDC115 TMEM199
6 Golgi transport complex GO:0017119 9.02 COG1 COG4 COG7 COG8 ENSG00000260371

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.78 COG1 COG4 COG7 COG8
2 Golgi organization GO:0007030 9.58 COG1 COG4 COG7
3 intra-Golgi vesicle-mediated transport GO:0006891 9.46 COG1 COG8
4 protein glycosylation GO:0006486 9.46 ALG2 COG7 MAN1B1 MAN2A1
5 N-glycan processing GO:0006491 9.43 MAN1B1 MAN2A1
6 cellular iron ion homeostasis GO:0006879 9.43 CCDC115 TF TMEM199
7 lysosomal lumen acidification GO:0007042 9.37 CCDC115 TMEM199
8 cellular response to increased oxygen levels GO:0036295 9.32 CCDC115 TMEM199
9 ER to Golgi vesicle-mediated transport GO:0006888 9.02 COG1 COG4 COG7 COG8 SERPINA1
10 lysosomal protein catabolic process GO:1905146 8.96 CCDC115 TMEM199

Sources for Congenital Disorder of Glycosylation, Type Ii

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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