CDG2A
MCID: CNG191
MIFTS: 50

Congenital Disorder of Glycosylation, Type Iia (CDG2A)

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 Iia

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

Name: Congenital Disorder of Glycosylation, Type Iia 57 12 29 13 6
Congenital Disorder of Glycosylation Type Iia 12 58 72 15
Cdg2a 57 12 58 72
Congenital Disorder of Glycosylation Type 2a 58 44 70
Cdg Iia 57 12 72
Cdgiia 57 12 72
Mental Retardation, Growth Retardation, Prominent Columella, and Open Mouth 57 12
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii 12 54
Alkuraya Syndrome 57 12
Cdg-Iia 58 72
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly; Cdgs2, Formerly 57
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly 57
Carbohydrate Deficient Glycoprotein Syndrome Type Iia 58
Carbohydrate-Deficient Glycoprotein Syndrome Type Ii 72
Glycosylation, Congenital Disorder of, Type Iia 39
N-Acetylglucosaminyltransferase 2 Deficiency 58
Congenital Disorder of Glycosylation 2a 72
Cdg Syndrome Type Iia 58
Cdg Iia; Cdgiia 57
Cdgs2, Formerly 57
Cdgs Type Ii 72
Mgat2-Cdg 58
Cdgs2 12

Characteristics:

Orphanet epidemiological data:

58
mgat2-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
four individual patients and 1 saudi family have been reported (as of february 2012)


HPO:

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


Classifications:

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


Summaries for Congenital Disorder of Glycosylation, Type Iia

OMIM® : 57 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs (see, e.g., CDG1A, 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. The biochemical changes of CDGs are most readily observed in serum transferrin (TF; 190000), and the diagnosis is usually made by isoelectric focusing of this glycoprotein (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002). (212066) (Updated 05-Apr-2021)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iia, also known as congenital disorder of glycosylation type iia, is related to congenital disorder of glycosylation, type iik and congenital disorder of glycosylation, type iin, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iia is MGAT2 (Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include tongue, bone and brain, and related phenotypes are intellectual disability, severe and intellectual disability, progressive

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3.

UniProtKB/Swiss-Prot : 72 Congenital disorder of glycosylation 2A: 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.

Related Diseases for Congenital Disorder of Glycosylation, Type Iia

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 Iir 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 Congenital Disorder of Glycosylation, Type Iit

Diseases related to Congenital Disorder of Glycosylation, Type Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iik 31.5 SLC35C1 ALG2
2 congenital disorder of glycosylation, type iin 31.4 PMM2 B3GNT2
3 congenital disorder of glycosylation, type iim 30.2 SLC35A1 B4GALT1 ALG3 ALG2 ALG1
4 immunodeficiency 47 29.6 SLC35C1 SLC35A1 PMM2 MPI MOGS B4GALT1
5 congenital disorders of n-linked glycosylation and multiple pathway 29.5 B4GALT1 ALG3 ALG2 ALG1
6 congenital disorder of glycosylation, type in 27.1 SLC35C1 SLC35A1 PMM2 MPI MPDU1 MOGS
7 man1b1-cdg 11.6
8 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 11.0
9 congenital disorder of glycosylation, type ia 10.9
10 congenital disorder of glycosylation, type iic 10.9
11 congenital disorder of glycosylation, type iir 10.9
12 congenital disorder of glycosylation, type iil 10.9
13 congenital disorder of glycosylation, type iip 10.9
14 congenital disorder of glycosylation, type iit 10.9
15 autosomal recessive disease 10.3
16 peripheral nervous system disease 10.3
17 neuropathy 10.3
18 ciliary dyskinesia, primary, 10 10.2 MGAT2 DNAAF2
19 cerebellar hypoplasia 10.2
20 congenital dyserythropoietic anemia 10.2
21 congenital disorder of glycosylation, type iig 10.1 MPDU1 ALG2
22 congenital disorder of glycosylation, type iij 10.1 MPDU1 ALG2
23 abnormal hair, joint laxity, and developmental delay 10.1
24 agammaglobulinemia 10.1
25 hypotonia 10.1
26 schneckenbecken dysplasia 10.0 SLC35C1 SLC35A1
27 immunodeficiency 23 9.9 SLC35C1 MOGS
28 galactosemia i 9.9 PMM2 B4GALT1 ALG2
29 congenital disorder of glycosylation, type iih 9.9 ALG3 ALG2
30 granulomatous disease, chronic, autosomal recessive, 2 9.7 PMM2 ALG3
31 protein-losing enteropathy 9.7 PMM2 MPI
32 fructose intolerance, hereditary 9.7 SLC35C1 MOGS B4GALT1 ALG2
33 phagocyte bactericidal dysfunction 9.7 PMM2 ALG3
34 granulomatous disease, chronic, autosomal recessive, 3 9.6 PMM2 ALG3
35 granulomatous disease, chronic, autosomal recessive, 1 9.6 PMM2 ALG3
36 congenital disorder of glycosylation, type iii 9.5 B4GALT1 ALG3 ALG2 ALG1
37 congenital disorder of glycosylation, type ie 9.4 SLC35C1 SLC35A1 PMM2 MPDU1 ALG2
38 congenital disorder of glycosylation, type iif 9.3 SLC35C1 SLC35A1 MPI B4GALT1 ALG2 ALG1
39 walker-warburg syndrome 9.0 SLC35A1 PMM2 MPI MPDU1 B3GNT2 ALG2
40 congenital disorder of glycosylation, type iib 9.0 SLC35C1 SLC35A1 MPI MOGS B4GALT1 ALG2
41 congenital disorder of glycosylation, type iid 9.0 SLC35C1 SLC35A1 PMM2 MPI MOGS B4GALT1

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



Diseases related to Congenital Disorder of Glycosylation, Type Iia

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iia

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

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
2 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
3 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
4 sparse hair 31 occasional (7.5%) HP:0008070
5 hirsutism 31 occasional (7.5%) HP:0001007
6 macrocephaly 31 HP:0000256
7 failure to thrive 31 HP:0001508
8 short neck 31 HP:0000470
9 osteopenia 31 HP:0000938
10 gingival overgrowth 31 HP:0000212
11 macrotia 31 HP:0000400
12 abnormality of the dentition 31 HP:0000164
13 pes planus 31 HP:0001763
14 microcephaly 31 HP:0000252
15 sensorineural hearing impairment 31 HP:0000407
16 thick eyebrow 31 HP:0000574
17 short stature 31 HP:0004322
18 hypertonia 31 HP:0001276
19 stereotypy 31 HP:0000733
20 brachycephaly 31 HP:0000248
21 everted lower lip vermilion 31 HP:0000232
22 postnatal growth retardation 31 HP:0008897
23 retrognathia 31 HP:0000278
24 pectus excavatum 31 HP:0000767
25 slender long bone 31 HP:0003100
26 wide mouth 31 HP:0000154
27 downslanted palpebral fissures 31 HP:0000494
28 open mouth 31 HP:0000194
29 protruding tongue 31 HP:0010808
30 prominent nasal bridge 31 HP:0000426
31 ventricular septal defect 31 HP:0001629
32 thin vermilion border 31 HP:0000233
33 coxa valga 31 HP:0002673
34 proximal placement of thumb 31 HP:0009623
35 long eyelashes 31 HP:0000527
36 macrodontia 31 HP:0001572
37 posteriorly rotated ears 31 HP:0000358
38 aggressive behavior 31 HP:0000718
39 generalized hypotonia 31 HP:0001290
40 unsteady gait 31 HP:0002317
41 self-mutilation 31 HP:0000742
42 thoracolumbar kyphoscoliosis 31 HP:0003423
43 diastema 31 HP:0000699
44 reduced factor xi activity 31 HP:0001929
45 reduced factor ix activity 31 HP:0011858
46 low hanging columella 31 HP:0009765
47 type ii transferrin isoform profile 31 HP:0012301
48 abnormal isoelectric focusing of serum transferrin 31 HP:0003160
49 reduced antithrombin iii activity 31 HP:0001976
50 midfrontal capillary hemangioma 31 HP:0007466

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
microcephaly
brachycephaly

Growth Other:
failure to thrive
postnatal growth retardation

Skeletal:
osteopenia

Growth Height:
short stature

Chest External Features:
pectus excavatum

Head And Neck Nose:
prominent nasal bridge
low hanging columella
hook nose

Skeletal Pelvis:
coxa valga

Skin Nails Hair Hair:
long eyelashes
thick eyebrows
sparse hair (in some patients)
hirsutism (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
self-mutilation
aggression
stereotypic behaviors (hand-washing movements, head-banging)

Head And Neck Teeth:
diastema
large teeth

Skeletal Hands:
proximally placed thumbs
short terminal phalanges

Hematology:
decreased coagulation factors ix, xi, xii
decreased antithrombin iii
decreased protein s
decreased protein c

Neurologic Central Nervous System:
seizures
unsteady gait
mental retardation, severe
early hypotonia
later hypertonia

Head And Neck Neck:
short neck

Skeletal Feet:
pes planus
irregular position of the toes

Head And Neck Face:
retrognathia
malar underdevelopment
obtuse lower incisor mandibular plane angle

Head And Neck Mouth:
open mouth
protruding tongue
large mouth
thin lips
everted lower lip
more
Cardiovascular Heart:
ventricular septal defect

Head And Neck Eyes:
long eyelashes
downslanting palpebral fissures
thick eyebrows

Head And Neck Ears:
posteriorly rotated ears
hearing loss, sensorineural
large dysplastic ears

Skeletal Spine:
thoracolumbar kyphoscoliosis

Skin Nails Hair Skin:
midfrontal capillary hemangioma

Skeletal Limbs:
gracile long bones

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 2 pattern)
glcnac-transferase ii deficiency in fibroblast and mononuclear cells

Clinical features from OMIM®:

212066 (Updated 05-Apr-2021)

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


seizures

MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation, Type Iia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 ALG2 ALG3 B3GNT2 B4GALT1 DNAAF2 MGAT2
2 mortality/aging MP:0010768 9.7 ALG1 ALG2 ALG3 B4GALT1 DNAAF2 MGAT2
3 respiratory system MP:0005388 9.1 B3GNT2 B4GALT1 DNAAF2 MOGS PMM2 SLC35C1

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iia

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

Cochrane evidence based reviews: congenital disorder of glycosylation type 2a

Genetic Tests for Congenital Disorder of Glycosylation, Type Iia

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iia 29 MGAT2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iia

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

40
Tongue, Bone, Brain

Publications for Congenital Disorder of Glycosylation, Type Iia

Articles related to Congenital Disorder of Glycosylation, Type Iia:

(show all 17)
# Title Authors PMID Year
1
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. 57 6 54
8808595 1996
2
Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. 6 57
22105986 2012
3
Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity. 57 6
20684000 2010
4
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. 6 57
11228641 2000
5
MGAT2 deficiency (CDG-IIa): the Life of J. 57
19419693 2009
6
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. 57
12756558 2003
7
Congenital disorders of glycosylation: a review. 57
12409504 2002
8
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. 57
11596651 2001
9
Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. 57
10642590 2000
10
Carbohydrate-deficient glycoprotein syndrome type II. 57
10571011 1999
11
Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). 57
7607254 1995
12
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. 57
7944531 1994
13
The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? 57
8286854 1993
14
Carbohydrate-deficient glycoprotein syndrome type II. 57
8127054 1993
15
A new variant of the carbohydrate deficient glycoproteins syndrome. 57
1770799 1991
16
Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa. 61
12417412 2002
17
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. 61
11805078 2001

Variations for Congenital Disorder of Glycosylation, Type Iia

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

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MGAT2 NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe) SNV Pathogenic 6989 rs104894446 GRCh37: 14:50088855-50088855
GRCh38: 14:49622137-49622137
2 MGAT2 NM_002408.4(MGAT2):c.785A>G (p.His262Arg) SNV Pathogenic 6990 rs104894447 GRCh37: 14:50088771-50088771
GRCh38: 14:49622053-49622053
3 MGAT2 NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp) SNV Pathogenic 6991 rs104894448 GRCh37: 14:50088938-50088938
GRCh38: 14:49622220-49622220
4 MGAT2 NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter) SNV Pathogenic 6992 rs104894449 GRCh37: 14:50089003-50089003
GRCh38: 14:49622285-49622285
5 MGAT2 NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) SNV Pathogenic 30270 rs730882218 GRCh37: 14:50088697-50088697
GRCh38: 14:49621979-49621979
6 MGAT2 NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr) SNV Pathogenic 617656 rs776531113 GRCh37: 14:50089106-50089106
GRCh38: 14:49622388-49622388
7 MGAT2 NM_002408.4(MGAT2):c.753dup (p.Ala252fs) Duplication Pathogenic 617657 rs1566504935 GRCh37: 14:50088738-50088739
GRCh38: 14:49622020-49622021
8 MGAT2 NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter) SNV Pathogenic 617658 rs1310787426 GRCh37: 14:50088077-50088077
GRCh38: 14:49621359-49621359
9 MGAT2 NM_002408.4(MGAT2):c.799G>C (p.Asp267His) SNV Pathogenic 617661 rs1566505013 GRCh37: 14:50088785-50088785
GRCh38: 14:49622067-49622067
10 MGAT2 NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser) SNV Conflicting interpretations of pathogenicity 702828 rs145684106 GRCh37: 14:50088215-50088215
GRCh38: 14:49621497-49621497
11 MGAT2 NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn) SNV Conflicting interpretations of pathogenicity 218607 rs140584714 GRCh37: 14:50088085-50088085
GRCh38: 14:49621367-49621367
12 MGAT2 NM_002408.4(MGAT2):c.63C>T (p.Gly21=) SNV Conflicting interpretations of pathogenicity 313254 rs146729850 GRCh37: 14:50088049-50088049
GRCh38: 14:49621331-49621331
13 MGAT2 NM_002408.4(MGAT2):c.-304C>A SNV Uncertain significance 882138 GRCh37: 14:50087683-50087683
GRCh38: 14:49620965-49620965
14 MGAT2 NM_002408.4(MGAT2):c.*372A>T SNV Uncertain significance 882443 GRCh37: 14:50089702-50089702
GRCh38: 14:49622984-49622984
15 MGAT2 NM_002408.4(MGAT2):c.*598T>C SNV Uncertain significance 882444 GRCh37: 14:50089928-50089928
GRCh38: 14:49623210-49623210
16 MGAT2 NM_002408.4(MGAT2):c.*821C>T SNV Uncertain significance 882445 GRCh37: 14:50090151-50090151
GRCh38: 14:49623433-49623433
17 MGAT2 NM_002408.4(MGAT2):c.-125C>G SNV Uncertain significance 883284 GRCh37: 14:50087862-50087862
GRCh38: 14:49621144-49621144
18 MGAT2 NM_002408.4(MGAT2):c.-110G>C SNV Uncertain significance 883285 GRCh37: 14:50087877-50087877
GRCh38: 14:49621159-49621159
19 MGAT2 NM_002408.4(MGAT2):c.15C>G (p.Ile5Met) SNV Uncertain significance 883286 GRCh37: 14:50088001-50088001
GRCh38: 14:49621283-49621283
20 MGAT2 NM_002408.4(MGAT2):c.48G>C (p.Val16=) SNV Uncertain significance 883287 GRCh37: 14:50088034-50088034
GRCh38: 14:49621316-49621316
21 MGAT2 NM_002408.4(MGAT2):c.66C>T (p.Phe22=) SNV Uncertain significance 884090 GRCh37: 14:50088052-50088052
GRCh38: 14:49621334-49621334
22 MGAT2 NM_002408.4(MGAT2):c.105G>A (p.Glu35=) SNV Uncertain significance 884091 GRCh37: 14:50088091-50088091
GRCh38: 14:49621373-49621373
23 MGAT2 NM_002408.4(MGAT2):c.233C>T (p.Ala78Val) SNV Uncertain significance 884092 GRCh37: 14:50088219-50088219
GRCh38: 14:49621501-49621501
24 MGAT2 NM_002408.4(MGAT2):c.302A>T (p.Asp101Val) SNV Uncertain significance 884093 GRCh37: 14:50088288-50088288
GRCh38: 14:49621570-49621570
25 MGAT2 NM_002408.4(MGAT2):c.146G>A (p.Gly49Asp) SNV Uncertain significance 972224 GRCh37: 14:50088132-50088132
GRCh38: 14:49621414-49621414
26 MGAT2 NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=) SNV Uncertain significance 389347 rs111486860 GRCh37: 14:50089009-50089009
GRCh38: 14:49622291-49622291
27 MGAT2 NM_002408.4(MGAT2):c.1233A>T (p.Leu411=) SNV Uncertain significance 313258 rs563513161 GRCh37: 14:50089219-50089219
GRCh38: 14:49622501-49622501
28 MGAT2 NM_002408.4(MGAT2):c.850C>T (p.Pro284Ser) SNV Uncertain significance 648000 rs201673817 GRCh37: 14:50088836-50088836
GRCh38: 14:49622118-49622118
29 MGAT2 NM_002408.4(MGAT2):c.206A>G (p.Asn69Ser) SNV Uncertain significance 1017445 GRCh37: 14:50088192-50088192
GRCh38: 14:49621474-49621474
30 MGAT2 NM_002408.4(MGAT2):c.733G>C (p.Val245Leu) SNV Uncertain significance 94062 rs117536357 GRCh37: 14:50088719-50088719
GRCh38: 14:49622001-49622001
31 MGAT2 NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr) SNV Uncertain significance 635035 rs1327830771 GRCh37: 14:50088497-50088497
GRCh38: 14:49621779-49621779
32 MGAT2 NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu) SNV Uncertain significance 635036 rs1566505007 GRCh37: 14:50088783-50088783
GRCh38: 14:49622065-49622065
33 MGAT2 NM_002408.4(MGAT2):c.509G>A (p.Cys170Tyr) SNV Uncertain significance 1029594 GRCh37: 14:50088495-50088495
GRCh38: 14:49621777-49621777
34 MGAT2 NM_002408.4(MGAT2):c.327G>T (p.Lys109Asn) SNV Uncertain significance 1033505 GRCh37: 14:50088313-50088313
GRCh38: 14:49621595-49621595
35 MGAT2 NM_002408.4(MGAT2):c.275G>T (p.Arg92Leu) SNV Uncertain significance 1045858 GRCh37: 14:50088261-50088261
GRCh38: 14:49621543-49621543
36 MGAT2 NC_000014.9:g.49620774C>T SNV Uncertain significance 880736 GRCh37: 14:50087492-50087492
GRCh38: 14:49620774-49620774
37 MGAT2 NC_000014.9:g.49620775C>T SNV Uncertain significance 880737 GRCh37: 14:50087493-50087493
GRCh38: 14:49620775-49620775
38 MGAT2 NC_000014.9:g.49620783C>G SNV Uncertain significance 880738 GRCh37: 14:50087501-50087501
GRCh38: 14:49620783-49620783
39 MGAT2 NM_002408.4(MGAT2):c.-443C>T SNV Uncertain significance 313241 rs3007037 GRCh37: 14:50087544-50087544
GRCh38: 14:49620826-49620826
40 MGAT2 NM_002408.4(MGAT2):c.354G>A (p.Leu118=) SNV Uncertain significance 880800 GRCh37: 14:50088340-50088340
GRCh38: 14:49621622-49621622
41 MGAT2 NM_002408.4(MGAT2):c.590C>A (p.Pro197His) SNV Uncertain significance 880801 GRCh37: 14:50088576-50088576
GRCh38: 14:49621858-49621858
42 MGAT2 NM_002408.4(MGAT2):c.764T>C (p.Ile255Thr) SNV Uncertain significance 880802 GRCh37: 14:50088750-50088750
GRCh38: 14:49622032-49622032
43 MGAT2 NM_002408.4(MGAT2):c.866T>A (p.Leu289His) SNV Uncertain significance 880803 GRCh37: 14:50088852-50088852
GRCh38: 14:49622134-49622134
44 MGAT2 NM_002408.4(MGAT2):c.68T>C (p.Val23Ala) SNV Uncertain significance 639157 rs371950590 GRCh37: 14:50088054-50088054
GRCh38: 14:49621336-49621336
45 MGAT2 NM_002408.4(MGAT2):c.250G>T (p.Ala84Ser) SNV Uncertain significance 653562 rs527933593 GRCh37: 14:50088236-50088236
GRCh38: 14:49621518-49621518
46 MGAT2 NM_002408.4(MGAT2):c.-190G>A SNV Uncertain significance 882139 GRCh37: 14:50087797-50087797
GRCh38: 14:49621079-49621079
47 MGAT2 NM_002408.4(MGAT2):c.*144C>A SNV Uncertain significance 882195 GRCh37: 14:50089474-50089474
GRCh38: 14:49622756-49622756
48 MGAT2 NM_002408.4(MGAT2):c.*189T>G SNV Uncertain significance 882196 GRCh37: 14:50089519-50089519
GRCh38: 14:49622801-49622801
49 MGAT2 NM_002408.4(MGAT2):c.*210C>A SNV Uncertain significance 882197 GRCh37: 14:50089540-50089540
GRCh38: 14:49622822-49622822
50 MGAT2 NM_002408.4(MGAT2):c.-338C>T SNV Uncertain significance 313247 rs886050516 GRCh37: 14:50087649-50087649
GRCh38: 14:49620931-49620931

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

72
# Symbol AA change Variation ID SNP ID
1 MGAT2 p.His262Arg VAR_003415 rs104894447
2 MGAT2 p.Ser290Phe VAR_003416 rs104894446
3 MGAT2 p.Asn318Asp VAR_012343 rs104894448

Expression for Congenital Disorder of Glycosylation, Type Iia

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

Pathways for Congenital Disorder of Glycosylation, Type Iia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 PMM2 MPI MOGS MGAT4A MGAT2 B4GALT1
2
Show member pathways
13.49 SLC35C1 SLC35A1 PMM2 MPI MPDU1 MOGS
3
Show member pathways
12.29 SLC35C1 SLC35A1 PMM2 MPI MPDU1 MOGS
4
Show member pathways
11.85 SLC35C1 SLC35A1 PMM2 MPI MPDU1 ALG3
5
Show member pathways
11.7 MOGS MGAT4A MGAT2 B4GALT1 ALG3 ALG2
6
Show member pathways
11.21 MGAT4A MGAT2 B4GALT1
7
Show member pathways
11.1 PMM2 MPI
8 10.84 B4GALT1 B3GNT2

GO Terms for Congenital Disorder of Glycosylation, Type Iia

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.7 SLC35C1 SLC35A1 MPDU1 MOGS MGAT4A MGAT2
2 endoplasmic reticulum membrane GO:0005789 9.65 MPDU1 MOGS ALG3 ALG2 ALG1
3 Golgi apparatus GO:0005794 9.63 SLC35C1 SLC35A1 MGAT4A MGAT2 B4GALT1 B3GNT2
4 Golgi stack GO:0005795 9.32 MGAT4A MGAT2
5 Golgi membrane GO:0000139 9.1 SLC35C1 SLC35A1 MGAT4A MGAT2 B4GALT1 B3GNT2

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.71 SLC35A1 MPI MOGS B4GALT1
2 mannosylation GO:0097502 9.5 ALG3 ALG2 ALG1
3 carbohydrate transport GO:0008643 9.46 SLC35C1 SLC35A1
4 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.46 MPDU1 ALG3 ALG2 ALG1
5 keratan sulfate biosynthetic process GO:0018146 9.43 B4GALT1 B3GNT2
6 oligosaccharide biosynthetic process GO:0009312 9.43 MPDU1 MGAT2 B4GALT1
7 GDP-mannose biosynthetic process GO:0009298 9.37 PMM2 MPI
8 protein N-linked glycosylation GO:0006487 9.35 PMM2 MOGS MGAT4A MGAT2 B4GALT1
9 protein glycosylation GO:0006486 9.28 PMM2 MPI MGAT4A MGAT2 B4GALT1 B3GNT2

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.7 MGAT4A MGAT2 B4GALT1 B3GNT2 ALG3 ALG2
2 acetylglucosaminyltransferase activity GO:0008375 9.32 MGAT4A B3GNT2
3 mannosyltransferase activity GO:0000030 9.26 ALG3 ALG1
4 transferase activity, transferring glycosyl groups GO:0016757 9.17 MGAT4A MGAT2 B4GALT1 B3GNT2 ALG3 ALG2
5 alpha-1,3-mannosyltransferase activity GO:0000033 8.96 ALG3 ALG2

Sources for Congenital Disorder of Glycosylation, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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