CDG1N
MCID: CNG411
MIFTS: 49

Congenital Disorder of Glycosylation, Type in (CDG1N) malady

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type in

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Aliases & Descriptions for Congenital Disorder of Glycosylation, Type in:

Name: Congenital Disorder of Glycosylation, Type in 52 12 68
Congenital Disorders of Glycosylation 48 24 39 68
Congenital Disorder of Glycosylation Type in 54 70 27
Congenital Disorder of Glycosylation 11 48 13
Carbohydrate-Deficient Glycoprotein Syndromes 48 24
Carbohydrate-Deficient Glycoprotein Syndrome 11 50
Congenital Disorder of Glycosylation 1n 70 27
Cdg-in 54 70
Cdg1n 54 70
 
Carbohydrate Deficient Glycoprotein Syndrome Type in 54
Congenital Disorder of Glycosylation Type 1n 54
Man5glcnac2-Pp-Dol Flippase Deficiency 54
Cdg Syndrome Type in 54
Cdg Syndromes 24
Rft1-Cdg 54
Cdg in 70
Cdgin 70
Cdg 48

Characteristics:

Orphanet epidemiological data:

54
congenital disorder of glycosylation type in:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
congenital disorder of glycosylation, type in:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 612015
Disease Ontology11 DOID:5212
MeSH39 D018981
NCIt45 C84615
SNOMED-CT62 238049009
Orphanet54 ORPHA244310
ICD10 via Orphanet31 E77.8
MedGen37 C2677590

Summaries for Congenital Disorder of Glycosylation, Type in

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NIH Rare Diseases:48 Congenital disorders of glycosylation (cdg) are a group of inherited metabolic disorders that affect a process called glycosylation. glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. there are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. individuals with a cdg are missing one of the enzymes that is required for glycosylation. the type of cdg that a person has depends on which enzyme is missing. currently, there are 19 identified types of cdg. cdg type ia is the most common form. the symptoms of cdg vary widely among affected individuals. some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential. last updated: 9/21/2011

MalaCards based summary: Congenital Disorder of Glycosylation, Type in, also known as congenital disorders of glycosylation, is related to congenital disorder of glycosylation, type ie and congenital disorder of glycosylation, type ii, and has symptoms including ataxia, ataxia and muscle spasticity. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways are N-Glycan biosynthesis and Synthesis of substrates in N-glycan biosythesis. Affiliated tissues include liver and cerebellum.

Disease Ontology:11 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

OMIM:52 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders... (612015) more...

UniProtKB/Swiss-Prot:70 Congenital disorder of glycosylation 1N: 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.

Wikipedia:71 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

Related Diseases for Congenital Disorder of Glycosylation, Type in

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Diseases in the Congenital Disorder of Glycosylation 1aa family:

Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Io
Congenital Disorder of Glycosylation, Type Iz Congenital Disorder of Glycosylation, Type Iib
Congenital Disorder of Glycosylation, Type Ix congenital disorder of glycosylation, type in
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ii Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Iic Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Iia Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Ia
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Iig
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type Ig
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation Type I/iix

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

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type ie12.5
2congenital disorder of glycosylation, type ii12.5
3congenital disorder of glycosylation, type ia12.4
4congenital disorder of glycosylation, type ib12.4
5congenital disorder of glycosylation, type ig12.4
6congenital disorder of glycosylation, type if12.4
7congenital disorder of glycosylation, type ik12.4
8congenital disorder of glycosylation, type ic12.4
9congenital disorder of glycosylation, type id12.4
10congenital disorder of glycosylation, type ih12.4
11congenital disorder of glycosylation, type ij12.4
12congenital disorder of glycosylation, type iia12.4
13congenital disorder of glycosylation, type iid12.4
14congenital disorder of glycosylation, type ix12.4
15congenital disorder of glycosylation, type il12.4
16congenital disorder of glycosylation, type iih12.4
17congenital disorder of glycosylation, type iii12.3
18congenital disorder of glycosylation, type io12.3
19congenital disorder of glycosylation, type im12.3
20congenital disorder of glycosylation, type ip12.3
21congenital disorder of glycosylation, type iim12.3
22congenital disorder of glycosylation, type ir12.3
23congenital disorder of glycosylation, type iu12.3
24congenital disorder of glycosylation, type iw12.3
25congenital disorder of glycosylation, type iic12.3
26congenital disorder of glycosylation, type iik12.3
27congenital disorder of glycosylation, type iil12.3
28congenital disorder of glycosylation, type iij12.3
29congenital disorder of glycosylation, type iig12.3
30congenital disorder of glycosylation, type iy12.3
31congenital disorder of glycosylation, type it12.3
32congenital disorder of glycosylation, type iif12.3
33congenital disorder of glycosylation, type iq12.3
34congenital disorder of glycosylation, type iib12.3
35congenital disorder of glycosylation 1aa12.2
36dolk-congenital disorder of glycosylation12.2
37congenital disorder of glycosylation, type iz12.0
38congenital disorder of glycosylation type i/iix12.0
39congenital disorder of glycosylation with developmental anomaly11.9
40tmem199-cdg11.7
41ccdc115-cdg11.7
42slc39a8-cdg11.7
43congenital disorder of deglycosylation11.6
44alg1-congenital disorder of glycosylation11.6
45alg12-congenital disorder of glycosylation11.6
46cog5-congenital disorder of glycosylation11.6
47alg6-congenital disorder of glycosylation11.5
48pmm2-congenital disorder of glycosylation11.5
49slc35a2-cdg11.2
50ssr4-cdg11.2

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



Diseases related to congenital disorder of glycosylation, type in

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type in

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Symptoms by clinical synopsis from OMIM:

612015

Clinical features from OMIM:

612015

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

 54 64 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures64 54 Obligate (100%) HP:0001250
2 muscular hypotonia64 54 Obligate (100%) HP:0001252
3 global developmental delay64 54 Obligate (100%) HP:0001263
4 hearing impairment64 54 Very frequent (99-80%) HP:0000365
5 arthrogryposis multiplex congenita64 54 Very frequent (99-80%) HP:0002804
6 microcephaly64 54 Frequent (79-30%) HP:0000252
7 visual impairment64 54 Frequent (79-30%) HP:0000505
8 failure to thrive64 54 Frequent (79-30%) HP:0001508
9 abnormal bleeding64 54 Frequent (79-30%) HP:0001892
10 abnormality of coagulation64 54 Frequent (79-30%) HP:0001928
11 abnormal thrombosis64 54 Frequent (79-30%) HP:0001977
12 hepatomegaly64 54 Frequent (79-30%) HP:0002240
13 inverted nipples64 54 Frequent (79-30%) HP:0003186
14 short stature64 54 Frequent (79-30%) HP:0004322
15 feeding difficulties64 54 Frequent (79-30%) HP:0011968
16 abnormality of the posterior cranial fossa64 54 Occasional (29-5%) HP:0000932
17 ataxia64 54 Occasional (29-5%) HP:0001251
18 cerebral atrophy54 Occasional (29-5%)
19 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
20 stroke-like episodes64 54 Occasional (29-5%) HP:0002401
21 bilateral basal ganglia lesions64 54 Occasional (29-5%) HP:0007146
22 hyperintensity of cerebral white matter on mri64 54 Occasional (29-5%) HP:0030890
23 micrognathia64 HP:0000347
24 sensorineural hearing impairment64 HP:0000407
25 short neck64 HP:0000470
26 adducted thumb64 HP:0001181
27 intellectual disability64 HP:0001249
28 spasticity64 HP:0001257
29 myoclonus64 HP:0001336
30 hyperreflexia64 HP:0001347
31 respiratory insufficiency64 HP:0002093
32 abnormal isoelectric focusing of serum transferrin64 HP:0003160
33 abnormality of the coagulation cascade64 HP:0003256
34 reduced visual acuity64 HP:0007663
35 pes valgus64 HP:0008081
36 intellectual disability, severe64 HP:0010864
37 nephropathy64 HP:0000112
38 broad forehead64 HP:0000337
39 strabismus64 HP:0000486
40 abnormality of vision64 HP:0000504
41 hypergonadotropic hypogonadism64 HP:0000815
42 decreased liver function64 HP:0001410
43 ascites64 HP:0001541
44 cardiomyopathy64 HP:0001638
45 abnormality of the pericardium64 HP:0001697
46 hypoglycemia64 HP:0001943
47 abnormality of the intestine64 HP:0002242
48 elevated hepatic transaminases64 HP:0002910
49 wide intermamillary distance64 HP:0006610
50 aplasia/hypoplasia of the nipples64 HP:0006709
51 aplasia/hypoplasia of the cerebellum64 HP:0007360
52 abnormal subcutaneous fat tissue distribution64 HP:0007552
53 abnormality of retinal pigmentation64 HP:0007703
54 peripheral neuropathy64 HP:0009830
55 abnormality of immune system physiology64 HP:0010978

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


ataxia, muscle spasticity, myoclonus, seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type in

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Drugs for Congenital Disorder of Glycosylation, Type in (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
WarfarinapprovedPhase 147081-81-26691, 54678486
Synonyms:
(-)-Warfarin
(S)-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2-benzopyrone
(S)-Warfarin
(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarin
(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarine
1-(4'-Hydroxy-3'-coumarinyl)-1-phenyl-3-butanone
200 Coumarin
200 coumarin
3-(1'-Phenyl-2'-acetylethyl)-4-hydroxycoumarin
3-(Acetonylbenzyl)-4-hydroxycoumarin
3-(alpha-Acetonylbenzyl)-4-hydroxycoumarin
3-(alpha-Phenyl-beta-acetylaethyl)-4-hydroxycumarin
3-(alpha-Phenyl-beta-acetylethyl)-4-hydroxycoumarin
4-Hydroxy-3- (3-oxo-1-fenyl-butyl) cumarine
4-Hydroxy-3- (3-oxo-1-phenyl-butyl)-cumarin
4-Hydroxy-3-(3-oxo-1-fenyl-butyl) cumarine
4-Hydroxy-3-(3-oxo-1-phenyl-butyl)-cumarin
4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one
4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-chromen-2-one
4-Hydroxy-3-(3-oxo-1-phenylbutyl)coumarin
4-Idrossi-3- (3-oxo-)-fenil-butil)-cumarine
4-Idrossi-3-(3-oxo-)-fenil-butil)-cumarine
4-Idrossi-3-(3-oxo-1-fenil-butil)-cumarine
45706_FLUKA
45706_RIEDEL
4oh-coumarin deriv.
5543-56-6
5543-57-7
81-81-2
A2250_FLUKA
A2250_SIGMA
AC-15978
AC1L1N37
AC1Q6AN3
AR-1E2310
Arab Rat Death
Arab rat death
Arab rat deth
Athrombin
Athrombin-K
Athrombin-k
Athrombine-K
Athrombine-k
BRD-A24514565-001-02-2
BRD-A24514565-236-01-6
BRN 1293536
BSPBio_002026
Bio-0586
Brumolin
C01541
C19H16O4
CBDivE_002127
CBDivE_013236
CBKinase1_000192
CBKinase1_012592
CHEBI:10033
CHEMBL1464
CID6691
CO-Rax
Caswell No. 903
Choice
Choice (TN)
Co-Rax
Co-rax
Compound 42
Coumadin
Coumadin Tabs
Coumafen
Coumafene
Coumafene [French]
Coumaphen
Coumaphene
Coumarins
Coumefene
Cov-R-Tox
Cov-R-tox
D-Con
D08682
DB00682
DL-3-(alpha-acetonylbenzyl)-4-hydroxycoumarin
Dethmor
Dethnel
Dicusat E
Dicusat e
DivK1c_000444
EINECS 201-377-6
EINECS 226-907-3
EPA Pesticide Chemical Code 086002
Eastern states duocide
Fasco fascrat powder
Frass-Ratron
Frass-ratron
HMS1921K07
HMS2092C20
HMS501G06
HSDB 1786
I14-0958
IDI1_000444
Jantoven
KBio1_000444
KBio2_000674
KBio2_003242
KBio2_005810
KBio3_001526
KBioGR_000901
KBioSS_000674
Killgerm sewarin p
Kumader
Kumadu
Kumatox
Kypfarin
LS-55083
Latka 42
Latka 42 [Czech]
Liqua-tox
MLS001304042
Maag Rattentod Cum
Maag rattentod cum
Mar-Frin
Mar-frin
Marevan
Martin'S mar-frin
Martin's mar-frin
 
Maveran
MolPort-001-787-822
Mouse pak
NCGC00094810-01
NCGC00094810-02
NCGC00159398-03
NCGC00178855-01
NINDS_000444
NSC 59813
NSC59813
PS104_SUPELCO
Panwarfin
Place-Pax
Place-pax
Prothromadin
RAX
RCR grey squirrel killer concentrate
RCRA waste no. P001
Rat & mice bait
Rat and mice bait
Rat-B-gon
Rat-Gard
Rat-Kill
Rat-Mix
Rat-O-cide #2
Rat-O-cide no. 2
Rat-Ola
Rat-Trol
Rat-a-way
Rat-alpha-way
Rat-b-gon
Rat-beta-gon
Rat-gard
Rat-kill
Rat-mix
Rat-o-cide #2
Rat-ola
Rat-trol
Ratorex
Ratox
Ratoxin
Ratron
Ratron G
Ratron g
Rats-no-more
Ratten-Koederrohr
Ratten-koederrohr
Rattenstreupulver Neu Schacht
Rattenstreupulver neu schacht
Rattenstreupulver new schacht
Rattentraenke
Rattunal
Rcra waste number P001
Ro-Deth
Ro-deth
Rodafarin
Rodafarin C
Rodafarin c
Rodex
Rodex blox
Rosex
Rough & ready mouse mix
Rough and ready mouse mix
SMP1_000316
SMR000718754
SPBio_000870
SPECTRUM1500613
STK364490
Sakarat
Sewarin
Sofarin
Solfarin
Sorexa Plus
Sorexa plus
Spectrum2_000935
Spectrum3_000583
Spectrum4_000381
Spectrum5_001751
Spectrum_000194
Spray-trol brand roden-trol
Temus W
Temus w
Tintorane
Tox-Hid
Tox-hid
Twin light rat away
UNII-5Q7ZVV76EI
Vampirinip II
Vampirinip III
Vampirinip iii
W.A.R.F. 42
WARF compound 42
WLN: T66 BOVJ DYR&1V1 EQ
Waran
Warf 10
Warf 42
Warfarat
Warfarin (INN)
Warfarin (and salts of)
Warfarin Plus
Warfarin Q
Warfarin [BSI:ISO]
Warfarin [INN:BAN]
Warfarin plus
Warfarin plus [discontinued]
Warfarin sodium
Warfarin titrated to an INR of 2.5-3.0
Warfarin(R)
Warfarina
Warfarina [INN-Spanish]
Warfarine
Warfarine [INN-French]
Warfarine [ISO-French]
Warfarinum
Warfarinum [INN-Latin]
Warficide
Warfilone
Zoocoumarin
Zoocoumarin [Netherlands and USSR]
Zoocoumarin [Russian]
delta-Con
nchembio.307-comp19
rac-Warfarin
warfarin
2Pharmaceutical SolutionsPhase 18192
3Antithrombins697
4Antithrombin III690

Interventional clinical trials:

idNameStatusNCT IDPhase
1Using D-Galactose as a Food Supplement in Congenital Disorders of GlycosylationRecruitingNCT02955264Phase 2
2Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of GlycosylationTerminatedNCT02511041Phase 1
3Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of GlycosylationRecruitingNCT02089789
4"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"RecruitingNCT02503267
5Natural History Study Protocol in PMM2-CDG (CDG-Ia)Not yet recruitingNCT03173300

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type in


Cochrane evidence based reviews: congenital disorders of glycosylation

Genetic Tests for Congenital Disorder of Glycosylation, Type in

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

id Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation27
2 Congenital Disorder of Glycosylation Type 1n27
3 Congenital Disorders of Glycosylation24

Anatomical Context for Congenital Disorder of Glycosylation, Type in

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

36
Liver, Cerebellum

Publications for Congenital Disorder of Glycosylation, Type in

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Variations for Congenital Disorder of Glycosylation, Type in

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

70
id Symbol AA change Variation ID SNP ID
1RFT1p.Arg67CysVAR_044334rs118203913
2RFT1p.Lys152GluVAR_062572rs763862849
3RFT1p.Glu298LysVAR_062573rs796053521

Clinvar genetic disease variations for Congenital Disorder of Glycosylation, Type in:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1MPINM_ 002435.2(MPI): c.656G> A (p.Arg219Gln)SNVPathogenic/ Likely pathogenicrs104894489GRCh37Chr 15, 75185647: 75185647
2PMM2NM_ 000303.2(PMM2): c.470T> C (p.Phe157Ser)SNVPathogenic/ Likely pathogenicrs190521996GRCh38Chr 16, 8811660: 8811660
3RFT1NM_ 052859.3(RFT1): c.454A> G (p.Lys152Glu)SNVPathogenicrs763862849GRCh37Chr 3, 53156392: 53156392
4RFT1NM_ 052859.3(RFT1): c.892G> A (p.Glu298Lys)SNVPathogenicrs796053521GRCh37Chr 3, 53139754: 53139754
5RFT1NM_ 052859.3(RFT1): c.887T> A (p.Ile296Lys)SNVPathogenicrs772820136GRCh37Chr 3, 53139759: 53139759
6RFT1NM_ 052859.3(RFT1): c.887T> G (p.Ile296Arg)SNVPathogenicrs772820136GRCh37Chr 3, 53139759: 53139759
7RFT1NM_ 052859.3(RFT1): c.1222A> G (p.Met408Val)SNVPathogenicrs796053522GRCh37Chr 3, 53126621: 53126621
8RFT1NM_ 052859.3(RFT1): c.1325G> A (p.Arg442Gln)SNVPathogenicrs749968109GRCh38Chr 3, 53092502: 53092502
9PMM2NM_ 000303.2(PMM2): c.422G> A (p.Arg141His)SNVPathogenicrs28936415GRCh37Chr 16, 8905010: 8905010
10PMM2NM_ 000303.2(PMM2): c.357C> A (p.Phe119Leu)SNVPathogenicrs80338701GRCh37Chr 16, 8904945: 8904945
11PMM2NM_ 000303.2(PMM2): c.710C> G (p.Thr237Arg)SNVPathogenicrs80338708GRCh37Chr 16, 8941651: 8941651
12RFT1NM_ 052859.3(RFT1): c.199C> T (p.Arg67Cys)SNVPathogenicrs118203913GRCh37Chr 3, 53157807: 53157807

Expression for genes affiliated with Congenital Disorder of Glycosylation, Type in

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

Pathways for genes affiliated with Congenital Disorder of Glycosylation, Type in

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GO Terms for genes affiliated with Congenital Disorder of Glycosylation, Type in

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:007256210.3CLU, HP, TF
2endoplasmic reticulum membraneGO:00057898.8ALG2, ALG6, MAN1B1, MPDU1, PTGDS, RFT1
3extracellular exosomeGO:00700628.4CLU, HP, MPDU1, MPI, PMM2, PTGDS
4Golgi apparatusGO:00057947.5CLU, COG7, MAN1B1, MGAT2, PTGDS, SLC35C1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1GDP-mannose biosynthetic processGO:000929810.6MPI, PMM2
2positive regulation of receptor-mediated endocytosisGO:004826010.5CLU, TF
3carbohydrate transportGO:000864310.5RFT1, SLC35C1
4oligosaccharide biosynthetic processGO:000931210.0MGAT2, MPDU1
5dolichol-linked oligosaccharide biosynthetic processGO:000648810.0ALG2, ALG6, MPDU1
6protein N-linked glycosylationGO:00064879.8ALG6, MGAT2, PMM2
7oligosaccharide metabolic processGO:00093119.6MAN1B1, MGAT2
8protein N-linked glycosylation via asparagineGO:00182799.3MGAT2, UMOD
9protein glycosylationGO:00064867.9ALG2, ALG6, COG7, MAN1B1, MGAT2, MPI

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

idNameGO IDScoreTop Affiliating Genes
1isomerase activityGO:00168539.7MPI, PMM2, PTGDS

Sources for Congenital Disorder of Glycosylation, Type in

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet