MCID: CNG191
MIFTS: 36

Congenital Disorder of Glycosylation, Type Iia

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Metabolic diseases, Fetal diseases, Rare diseases, Mental diseases, Liver diseases, Skin diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 13
Carbohydrate-Deficient Glycoprotein Syndrome Type Ii 75 29 6
Cdg2a 57 59 75
Congenital Disorder of Glycosylation Type Iia 59 75
Congenital Disorder of Glycosylation Type 2a 59 73
Cdg Iia 57 75
Cdg-Iia 59 75
Cdgiia 57 75
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly; Cdgs2, Formerly 57
Mental Retardation, Growth Retardation, Prominent Columella, and Open Mouth 57
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly 57
Carbohydrate Deficient Glycoprotein Syndrome Type Iia 59
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii 55
Glycosylation, Congenital Disorder of, Type Iia 40
N-Acetylglucosaminyltransferase 2 Deficiency 59
Congenital Disorder of Glycosylation 2a 75
Cdg Syndrome Type Iia 59
Alkuraya Syndrome 57
Cdg Iia; Cdgiia 57
Cdgs2, Formerly 57
Cdgs Type Ii 75
Mgat2-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
mgat2-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



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)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iia, also known as carbohydrate-deficient glycoprotein syndrome type ii, is related to man1b1-cdg and congenital disorder of glycosylation, type ii, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iia is MGAT2 (Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase). Affiliated tissues include bone, tongue and brain, and related phenotypes are intellectual disability, severe and intellectual disability, progressive

UniProtKB/Swiss-Prot : 75 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 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 Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 man1b1-cdg 11.4
2 congenital disorder of glycosylation, type ii 11.2
3 congenital disorder of glycosylation, type ia 10.8
4 congenital disorder of glycosylation, type iic 10.8
5 congenital disorder of glycosylation, type iim 10.8
6 congenital disorder of glycosylation, type iil 10.8
7 congenital disorder of glycosylation, type iik 10.8
8 congenital disorder of glycosylation, type iin 10.8
9 congenital disorder of glycosylation, type iip 10.8
10 congenital disorder of glycosylation with defective fucosylation 10.8
11 congenital disorder of glycosylation, type in 10.1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
microcephaly
brachycephaly

Chest External Features:
pectus excavatum

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

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 Nose:
prominent nasal bridge
low hanging columella
hook nose

Cardiovascular Heart:
ventricular septal defect

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 Limbs:
gracile long bones

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

Head And Neck Neck:
short neck

Skeletal:
osteopenia

Growth Other:
failure to thrive
postnatal growth retardation

Growth Height:
short stature

Skeletal Pelvis:
coxa valga

Head And Neck Mouth:
open mouth
protruding tongue
large mouth
thin lips
everted lower lip
more
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

Skeletal Hands:
proximally placed thumbs
short terminal phalanges

Skin Nails Hair Skin:
midfrontal capillary hemangioma

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

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

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
2 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
3 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
4 macrocephaly 32 HP:0000256
5 short neck 32 HP:0000470
6 pectus excavatum 32 HP:0000767
7 osteopenia 32 HP:0000938
8 seizures 32 HP:0001250
9 failure to thrive 32 HP:0001508
10 gingival overgrowth 32 HP:0000212
11 macrotia 32 HP:0000400
12 abnormality of the dentition 32 HP:0000164
13 pes planus 32 HP:0001763
14 microcephaly 32 HP:0000252
15 sensorineural hearing impairment 32 HP:0000407
16 thick eyebrow 32 HP:0000574
17 short stature 32 HP:0004322
18 stereotypy 32 HP:0000733
19 brachycephaly 32 HP:0000248
20 retrognathia 32 HP:0000278
21 coxa valga 32 HP:0002673
22 everted lower lip vermilion 32 HP:0000232
23 postnatal growth retardation 32 HP:0008897
24 prominent nasal bridge 32 HP:0000426
25 wide mouth 32 HP:0000154
26 downslanted palpebral fissures 32 HP:0000494
27 open mouth 32 HP:0000194
28 protruding tongue 32 HP:0010808
29 ventricular septal defect 32 HP:0001629
30 aggressive behavior 32 HP:0000718
31 thin vermilion border 32 HP:0000233
32 long eyelashes 32 HP:0000527
33 proximal placement of thumb 32 HP:0009623
34 sparse hair 32 occasional (7.5%) HP:0008070
35 slender long bone 32 HP:0003100
36 generalized hypotonia 32 HP:0001290
37 posteriorly rotated ears 32 HP:0000358
38 unsteady gait 32 HP:0002317
39 hirsutism 32 occasional (7.5%) HP:0001007
40 macrodontia 32 HP:0001572
41 self-mutilation 32 HP:0000742
42 type ii transferrin isoform profile 32 HP:0012301
43 abnormal isoelectric focusing of serum transferrin 32 HP:0003160
44 thoracolumbar kyphoscoliosis 32 HP:0003423
45 reduced factor xi activity 32 HP:0001929
46 diastema 32 HP:0000699
47 low hanging columella 32 HP:0009765
48 reduced factor ix activity 32 HP:0011858
49 midfrontal capillary hemangioma 32 HP:0007466
50 abnormality of the rib cage 32 HP:0001547

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


seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iia

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iia

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

# Genetic test Affiliating Genes
1 Carbohydrate-Deficient Glycoprotein Syndrome Type Ii 29 MGAT2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iia

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

41
Bone, Tongue, Brain, Testes

Publications for Congenital Disorder of Glycosylation, Type Iia

Articles related to Congenital Disorder of Glycosylation, Type Iia:

# Title Authors Year
1
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. ( 12417412 )
2002
2
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. ( 11805078 )
2001
3
Carbohydrate-deficient glycoprotein syndrome type II. ( 10571011 )
1999
4
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. ( 8808595 )
1996
5
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). ( 7607254 )
1995

Variations for Congenital Disorder of Glycosylation, Type Iia

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

75
# 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

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MGAT2 NM_002408.3(MGAT2): c.869C> T (p.Ser290Phe) single nucleotide variant Pathogenic rs104894446 GRCh37 Chromosome 14, 50088855: 50088855
2 MGAT2 NM_002408.3(MGAT2): c.869C> T (p.Ser290Phe) single nucleotide variant Pathogenic rs104894446 GRCh38 Chromosome 14, 49622137: 49622137
3 MGAT2 NM_002408.3(MGAT2): c.785A> G (p.His262Arg) single nucleotide variant Pathogenic rs104894447 GRCh37 Chromosome 14, 50088771: 50088771
4 MGAT2 NM_002408.3(MGAT2): c.785A> G (p.His262Arg) single nucleotide variant Pathogenic rs104894447 GRCh38 Chromosome 14, 49622053: 49622053
5 MGAT2 NM_002408.3(MGAT2): c.952A> G (p.Asn318Asp) single nucleotide variant Pathogenic rs104894448 GRCh37 Chromosome 14, 50088938: 50088938
6 MGAT2 NM_002408.3(MGAT2): c.952A> G (p.Asn318Asp) single nucleotide variant Pathogenic rs104894448 GRCh38 Chromosome 14, 49622220: 49622220
7 MGAT2 NM_002408.3(MGAT2): c.1017T> A (p.Cys339Ter) single nucleotide variant Pathogenic rs104894449 GRCh37 Chromosome 14, 50089003: 50089003
8 MGAT2 NM_002408.3(MGAT2): c.1017T> A (p.Cys339Ter) single nucleotide variant Pathogenic rs104894449 GRCh38 Chromosome 14, 49622285: 49622285
9 MGAT2 NM_002408.3(MGAT2): c.711G> C (p.Lys237Asn) single nucleotide variant Pathogenic/Likely pathogenic rs730882218 GRCh38 Chromosome 14, 49621979: 49621979
10 MGAT2 NM_002408.3(MGAT2): c.711G> C (p.Lys237Asn) single nucleotide variant Pathogenic/Likely pathogenic rs730882218 GRCh37 Chromosome 14, 50088697: 50088697
11 DNAAF2; MGAT2 NM_002408.3(MGAT2): c.261G> T (p.Leu87=) single nucleotide variant Benign/Likely benign rs2228449 GRCh37 Chromosome 14, 50088247: 50088247
12 DNAAF2; MGAT2 NM_002408.3(MGAT2): c.261G> T (p.Leu87=) single nucleotide variant Benign/Likely benign rs2228449 GRCh38 Chromosome 14, 49621529: 49621529
13 MGAT2 NM_002408.3(MGAT2): c.768T> G (p.Leu256=) single nucleotide variant Benign rs77872234 GRCh37 Chromosome 14, 50088754: 50088754
14 MGAT2 NM_002408.3(MGAT2): c.768T> G (p.Leu256=) single nucleotide variant Benign rs77872234 GRCh38 Chromosome 14, 49622036: 49622036
15 MGAT2 NM_002408.3(MGAT2): c.688A> C (p.Thr230Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50088674: 50088674
16 MGAT2 NM_002408.3(MGAT2): c.688A> C (p.Thr230Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 49621956: 49621956

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

GO Terms for Congenital Disorder of Glycosylation, Type Iia

Sources for Congenital Disorder of Glycosylation, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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