MCID: CNG411
MIFTS: 46

Congenital Disorder of Glycosylation, Type in 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 50 12 66
Congenital Disorders of Glycosylation 46 23 37 66
Congenital Disorder of Glycosylation Type in 52 68 25
Congenital Disorder of Glycosylation 11 46 13
Carbohydrate-Deficient Glycoprotein Syndromes 46 23
Carbohydrate-Deficient Glycoprotein Syndrome 11 48
Congenital Disorder of Glycosylation 1n 68 25
Cdg-in 52 68
Cdg1n 52 68
 
Carbohydrate Deficient Glycoprotein Syndrome Type in 52
Congenital Disorder of Glycosylation Type 1n 52
Man5glcnac2-Pp-Dol Flippase Deficiency 52
Cdg Syndrome Type in 52
Cdg Syndromes 23
Rft1-Cdg 52
Cdg in 68
Cdgin 68
Cdg 46

Characteristics:

Orphanet epidemiological data:

52
congenital disorder of glycosylation type in:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
congenital disorder of glycosylation, type in:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 612015
Disease Ontology11 DOID:5212
MeSH37 D018981
NCIt43 C84615
SNOMED-CT60 238049009
Orphanet52 ORPHA244310
ICD10 via Orphanet29 E77.8
MedGen35 C2677590

Summaries for Congenital Disorder of Glycosylation, Type in

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NIH Rare Diseases:46 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 strabismus, abnormality of coagulation and cerebral cortical atrophy. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways are Amino sugar and nucleotide sugar metabolism and Fructose and mannose metabolism. Affiliated tissues include liver, heart 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:50 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders... (612015) more...

UniProtKB/Swiss-Prot:68 Congenital disorder of glycosylation 1N: 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 in

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Diseases in the Congenital Disorder of Glycosylation 2o 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 Congenital Disorder of Glycosylation 2n
Congenital Disorder of Glycosylation 2p

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type ie12.6
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 ih12.4
7congenital disorder of glycosylation, type ij12.4
8congenital disorder of glycosylation, type iid12.4
9congenital disorder of glycosylation, type il12.4
10congenital disorder of glycosylation, type if12.4
11congenital disorder of glycosylation, type ix12.4
12congenital disorder of glycosylation, type iih12.4
13congenital disorder of glycosylation, type ik12.4
14congenital disorder of glycosylation, type ic12.4
15congenital disorder of glycosylation, type id12.4
16congenital disorder of glycosylation, type iia12.4
17congenital disorder of glycosylation, type iim12.4
18congenital disorder of glycosylation, type iii12.3
19congenital disorder of glycosylation, type ip12.3
20congenital disorder of glycosylation, type iif12.3
21congenital disorder of glycosylation, type ir12.3
22congenital disorder of glycosylation, type io12.3
23congenital disorder of glycosylation, type im12.3
24congenital disorder of glycosylation, type iij12.3
25congenital disorder of glycosylation, type iig12.3
26congenital disorder of glycosylation, type iik12.3
27congenital disorder of glycosylation, type iu12.3
28congenital disorder of glycosylation, type iw12.3
29congenital disorder of glycosylation, type iy12.3
30congenital disorder of glycosylation, type iib12.3
31congenital disorder of glycosylation, type iic12.3
32congenital disorder of glycosylation, type it12.3
33congenital disorder of glycosylation, type iq12.3
34congenital disorder of glycosylation, type iil12.3
35congenital disorder of glycosylation 2o12.3
36congenital disorder of glycosylation 2n12.3
37congenital disorder of glycosylation 2p12.3
38congenital disorder of glycosylation, type iz12.3
39dolk-congenital disorder of glycosylation12.3
40congenital disorder of glycosylation type i/iix12.1
41alg1-congenital disorder of glycosylation11.5
42alg12-congenital disorder of glycosylation11.5
43cog5-congenital disorder of glycosylation11.5
44congenital disorder of deglycosylation11.5
45alg6-congenital disorder of glycosylation11.5
46pmm2-congenital disorder of glycosylation11.5
47ssr4-cdg11.3
48slc35a2-cdg11.3
49stt3a-cdg and stt3b-cdg11.3
50immunodeficiency 2311.0

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 for Congenital Disorder of Glycosylation, Type in

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Symptoms by clinical synopsis from OMIM:

612015

Clinical features from OMIM:

612015

HPO human phenotypes related to Congenital Disorder of Glycosylation, Type in:

(show all 43)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 abnormality of coagulation hallmark (90%) HP:0001928
3 cerebral cortical atrophy hallmark (90%) HP:0002120
4 elevated hepatic transaminases hallmark (90%) HP:0002910
5 aplasia/hypoplasia of the nipples hallmark (90%) HP:0006709
6 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
7 abnormality of retinal pigmentation hallmark (90%) HP:0007703
8 abnormality of adipose tissue hallmark (90%) HP:0009124
9 abnormality of immune system physiology hallmark (90%) HP:0010978
10 cognitive impairment hallmark (90%) HP:0100543
11 abnormality of the genital system typical (50%) HP:0000078
12 broad forehead typical (50%) HP:0000337
13 seizures typical (50%) HP:0001250
14 hypertrophic cardiomyopathy typical (50%) HP:0001639
15 abnormality of the pericardium typical (50%) HP:0001697
16 hypoglycemia typical (50%) HP:0001943
17 nephropathy occasional (7.5%) HP:0000112
18 ascites occasional (7.5%) HP:0001541
19 abnormality of the intestine occasional (7.5%) HP:0002242
20 peripheral neuropathy occasional (7.5%) HP:0009830
21 microcephaly HP:0000252
22 micrognathia HP:0000347
23 sensorineural hearing impairment HP:0000407
24 short neck HP:0000470
25 adducted thumb HP:0001181
26 intellectual disability HP:0001249
27 seizures HP:0001250
28 ataxia HP:0001251
29 muscular hypotonia HP:0001252
30 spasticity HP:0001257
31 global developmental delay HP:0001263
32 myoclonus HP:0001336
33 hyperreflexia HP:0001347
34 failure to thrive HP:0001508
35 respiratory insufficiency HP:0002093
36 hepatomegaly HP:0002240
37 abnormal isoelectric focusing of serum transferrin HP:0003160
38 inverted nipples HP:0003186
39 abnormality of the coagulation cascade HP:0003256
40 short stature HP:0004322
41 reduced visual acuity HP:0007663
42 valgus foot deformity HP:0008081
43 feeding difficulties HP:0011968

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
WarfarinPhase 144181-81-26691, 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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of GlycosylationSuspendedNCT02511041Phase 1
2Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of GlycosylationRecruitingNCT02089789
3"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"RecruitingNCT02503267

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 Glycosylation25
2 Congenital Disorder of Glycosylation Type 1n25
3 Congenital Disorders of Glycosylation23

Anatomical Context for Congenital Disorder of Glycosylation, Type in

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

34
Liver, Heart, Cerebellum

Animal Models for Congenital Disorder of Glycosylation, Type in or affiliated genes

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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:

68
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
id Gene Variation Type Significance SNP ID Assembly Location
1RFT1NM_052859.3(RFT1): c.454A> G (p.Lys152Glu)single nucleotide variantPathogenicrs763862849GRCh37Chr 3, 53156392: 53156392
2RFT1NM_052859.3(RFT1): c.892G> A (p.Glu298Lys)single nucleotide variantPathogenicrs796053521GRCh38Chr 3, 53105738: 53105738
3RFT1NM_052859.3(RFT1): c.887T> A (p.Ile296Lys)single nucleotide variantPathogenicrs772820136GRCh37Chr 3, 53139759: 53139759
4RFT1NM_052859.3(RFT1): c.887T> G (p.Ile296Arg)single nucleotide variantPathogenicrs772820136GRCh37Chr 3, 53139759: 53139759
5RFT1NM_052859.3(RFT1): c.1222A> G (p.Met408Val)single nucleotide variantPathogenicrs796053522GRCh37Chr 3, 53126621: 53126621
6RFT1NM_052859.3(RFT1): c.1325G> A (p.Arg442Gln)single nucleotide variantPathogenicrs749968109GRCh38Chr 3, 53092502: 53092502
7RFT1NM_052859.3(RFT1): c.199C> T (p.Arg67Cys)single nucleotide variantPathogenicrs118203913GRCh37Chr 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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Pathways related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6MPI, PMM2
2
Show member pathways
9.6MPI, PMM2
3
Show member pathways
8.9ALG2, ALG6, MGAT2
4
Show member pathways
7.5ALG2, ALG6, MPDU1, MPI, PMM2, RFT1
5
Show member pathways
6.2ALG2, ALG6, COG7, MGAT2, MPDU1, MPI

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
1endoplasmic reticulum membraneGO:00057898.8ALG2, ALG6, MPDU1, RFT1

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

idNameGO IDScoreTop Affiliating Genes
1carbohydrate transportGO:000864310.2RFT1, SLC35C1
2GDP-mannose biosynthetic processGO:000929810.2MPI, PMM2
3protein glycosylationGO:00064869.7COG7, PMM2
4protein N-linked glycosylationGO:00064879.3ALG6, MGAT2
5oligosaccharide biosynthetic processGO:00093129.3MGAT2, MPDU1
6dolichol-linked oligosaccharide biosynthetic processGO:00064888.8ALG2, ALG6, MPDU1

Sources for Congenital Disorder of Glycosylation, Type in

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet