MCID: CNG411
MIFTS: 48

Congenital Disorder of Glycosylation, Type in

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type in

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

Name: Congenital Disorder of Glycosylation, Type in 54 13 69
Congenital Disorders of Glycosylation 50 24 42 69
Congenital Disorder of Glycosylation 12 50 29 14
Carbohydrate-Deficient Glycoprotein Syndromes 50 24
Carbohydrate-Deficient Glycoprotein Syndrome 12 52
Congenital Disorder of Glycosylation Type 1n 56 29
Congenital Disorder of Glycosylation Type in 56 71
Cdg-in 56 71
Cdg1n 56 71
Carbohydrate Deficient Glycoprotein Syndrome Type in 56
Congenital Disorder of Glycosylation 1n 71
Man5glcnac2-Pp-Dol Flippase Deficiency 56
Cdg Syndrome Type in 56
Cdg Syndromes 24
Rft1-Cdg 56
Cdg in 71
Cdgin 71
Cdg 50

Characteristics:

Orphanet epidemiological data:

56
rft1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
congenital disorder of glycosylation, type in:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type in

NIH Rare Diseases : 50 congenital disorders of glycosylation (cdg) are a group of inheritedmetabolic 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 ii and congenital disorder of glycosylation, type ia, and has symptoms including short stature, failure to thrive and visual impairment. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include liver, eye and cerebellum.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). (612015)

Disease Ontology : 12 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

Related Diseases for Congenital Disorder of Glycosylation, Type in

Diseases in the Congenital Disorder of Glycosylation, Type in 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 Iiq Congenital Disorder of Glycosylation, Type Iib
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type 1aa
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ii Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Iu 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 Iip
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 124)
id Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ii 12.5
2 congenital disorder of glycosylation, type ia 12.4
3 congenital disorder of glycosylation, type ib 12.4
4 congenital disorder of glycosylation, type ig 12.4
5 congenital disorder of glycosylation, type if 12.4
6 congenital disorder of glycosylation, type ie 12.4
7 congenital disorder of glycosylation, type ik 12.4
8 congenital disorder of glycosylation, type ih 12.4
9 congenital disorder of glycosylation, type ij 12.4
10 congenital disorder of glycosylation, type id 12.4
11 congenital disorder of glycosylation, type ic 12.4
12 congenital disorder of glycosylation, type iid 12.4
13 congenital disorder of glycosylation, type iia 12.4
14 congenital disorder of glycosylation, type ix 12.4
15 congenital disorder of glycosylation, type il 12.4
16 congenital disorder of glycosylation, type iih 12.4
17 congenital disorder of glycosylation, type im 12.3
18 congenital disorder of glycosylation, type io 12.3
19 congenital disorder of glycosylation, type ip 12.3
20 congenital disorder of glycosylation, type iii 12.3
21 congenital disorder of glycosylation, type iim 12.3
22 congenital disorder of glycosylation, type iip 12.3
23 congenital disorder of glycosylation, type iu 12.3
24 congenital disorder of glycosylation, type ir 12.3
25 congenital disorder of glycosylation, type iw 12.3
26 congenital disorder of glycosylation, type iij 12.3
27 congenital disorder of glycosylation, type iig 12.3
28 congenital disorder of glycosylation, type iik 12.3
29 congenital disorder of glycosylation, type iil 12.3
30 congenital disorder of glycosylation, type iio 12.3
31 congenital disorder of glycosylation, type iic 12.3
32 congenital disorder of glycosylation, type it 12.3
33 congenital disorder of glycosylation, type iin 12.3
34 congenital disorder of glycosylation, type iq 12.3
35 congenital disorder of glycosylation, type iiq 12.3
36 congenital disorder of glycosylation, type iy 12.3
37 congenital disorder of glycosylation, type iif 12.3
38 congenital disorder of glycosylation, type 1aa 12.3
39 congenital disorder of glycosylation, type iib 12.3
40 dolk-congenital disorder of glycosylation 12.2
41 congenital disorder of glycosylation type i/iix 12.1
42 congenital disorder of glycosylation with developmental anomaly 11.9
43 epileptic encephalopathy, early infantile, 36 11.9
44 man1b1-cdg 11.6
45 congenital disorder of deglycosylation 11.6
46 ssr4-cdg 11.6
47 stt3a-cdg and stt3b-cdg 11.5
48 alg1-congenital disorder of glycosylation 11.5
49 alg12-congenital disorder of glycosylation 11.5
50 alg6-congenital disorder of glycosylation 11.4

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

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Muscle Soft Tissue:
hypotonia

Head And Neck- Head:
microcephaly

Head And Neck- Face:
micrognathia

Skeletal- Hands:
adducted thumbs

Abdomen- Gastroin testinal:
feeding difficulties

Abdomen- Liver:
hepatomegaly (in some patients)

Skeletal- Feet:
valgus foot deformity

Laboratory- Abnormalities:
type i pattern of serum sialotransferrins
accumulation of the incomplete oligosaccharide man(5)glcnac(2)-pp-dolichol

Growth- Other:
failure to thrive

Neurologic- Central Nervous System:
myoclonus
ataxia
delayed psychomotor development, severe
hyperreflexia
spasticity
more
Head And Neck- Eyes:
decreased visual acuity
lack of eye contact

Head And Neck- Neck:
short neck

Respiratory:
respiratory insufficiency

Head And Neck- Ears:
sensorineural deafness

Chest- Breasts:
inverted nipples

Hematology:
coagulopathy (in some patients)


Clinical features from OMIM:

612015

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

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Frequent (79-30%) HP:0001508
3 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
4 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
5 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
6 seizures 56 32 frequent (33%) Obligate (100%) HP:0001250
7 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
8 arthrogryposis multiplex congenita 56 32 hallmark (90%) Very frequent (99-80%) HP:0002804
9 global developmental delay 56 32 hallmark (90%) Obligate (100%) HP:0001263
10 cerebral cortical atrophy 56 32 hallmark (90%) Occasional (29-5%) HP:0002120
11 feeding difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0011968
12 muscular hypotonia 56 32 obligate (100%) Obligate (100%) HP:0001252
13 inverted nipples 56 32 frequent (33%) Frequent (79-30%) HP:0003186
14 abnormal bleeding 56 32 frequent (33%) Frequent (79-30%) HP:0001892
15 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
16 abnormal thrombosis 56 32 frequent (33%) Frequent (79-30%) HP:0001977
17 abnormality of coagulation 56 32 hallmark (90%) Frequent (79-30%) HP:0001928
18 abnormality of the posterior cranial fossa 56 32 occasional (7.5%) Occasional (29-5%) HP:0000932
19 bilateral basal ganglia lesions 56 32 occasional (7.5%) Occasional (29-5%) HP:0007146
20 hyperintensity of cerebral white matter on mri 56 32 occasional (7.5%) Occasional (29-5%) HP:0030890
21 myoclonus 32 HP:0001336
22 strabismus 32 hallmark (90%) HP:0000486
23 intellectual disability, severe 32 HP:0010864
24 hyperreflexia 32 HP:0001347
25 spasticity 32 HP:0001257
26 cerebral atrophy 56 Occasional (29-5%)
27 micrognathia 32 HP:0000347
28 peripheral neuropathy 32 occasional (7.5%) HP:0009830
29 reduced visual acuity 32 HP:0007663
30 short neck 32 HP:0000470
31 broad forehead 32 frequent (33%) HP:0000337
32 intellectual disability 32 HP:0001249
33 hypoglycemia 32 frequent (33%) HP:0001943
34 cardiomyopathy 32 frequent (33%) HP:0001638
35 respiratory insufficiency 32 HP:0002093
36 hypergonadotropic hypogonadism 32 frequent (33%) HP:0000815
37 ascites 32 occasional (7.5%) HP:0001541
38 sensorineural hearing impairment 32 HP:0000407
39 decreased liver function 32 occasional (7.5%) HP:0001410
40 nephropathy 32 occasional (7.5%) HP:0000112
41 stroke-like episodes 56 Occasional (29-5%)
42 pes valgus 32 HP:0008081
43 abnormal isoelectric focusing of serum transferrin 32 HP:0003160
44 elevated hepatic transaminases 32 hallmark (90%) HP:0002910
45 abnormal subcutaneous fat tissue distribution 32 hallmark (90%) HP:0007552
46 adducted thumb 32 HP:0001181
47 abnormality of retinal pigmentation 32 hallmark (90%) HP:0007703
48 abnormality of vision 32 frequent (33%) HP:0000504
49 wide intermamillary distance 32 hallmark (90%) HP:0006610
50 aplasia/hypoplasia of the nipples 32 hallmark (90%) HP:0006709

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


ataxia, muscle spasticity, myoclonus, seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type in

Search Clinical Trials , 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

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

id Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation 29
2 Congenital Disorder of Glycosylation Type 1n 29
3 Congenital Disorders of Glycosylation 24

Anatomical Context for Congenital Disorder of Glycosylation, Type in

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

39
Liver, Eye, Cerebellum

Publications for Congenital Disorder of Glycosylation, Type in

Variations for Congenital Disorder of Glycosylation, Type in

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

71
id Symbol AA change Variation ID SNP ID
1 RFT1 p.Arg67Cys VAR_044334 rs118203913
2 RFT1 p.Lys152Glu VAR_062572 rs763862849
3 RFT1 p.Glu298Lys VAR_062573 rs796053521

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

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 RFT1 NM_052859.3(RFT1): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs118203913 GRCh37 Chromosome 3, 53157807: 53157807
2 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
3 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
4 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
5 MPI NM_002435.2(MPI): c.656G> A (p.Arg219Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894489 GRCh37 Chromosome 15, 75185647: 75185647
6 PMM2 NM_000303.2(PMM2): c.470T> C (p.Phe157Ser) single nucleotide variant Pathogenic/Likely pathogenic rs190521996 GRCh38 Chromosome 16, 8811660: 8811660
7 RFT1 NM_052859.3(RFT1): c.454A> G (p.Lys152Glu) single nucleotide variant Pathogenic rs763862849 GRCh37 Chromosome 3, 53156392: 53156392
8 RFT1 NM_052859.3(RFT1): c.892G> A (p.Glu298Lys) single nucleotide variant Pathogenic rs796053521 GRCh37 Chromosome 3, 53139754: 53139754
9 RFT1 NM_052859.3(RFT1): c.887T> A (p.Ile296Lys) single nucleotide variant Pathogenic rs772820136 GRCh37 Chromosome 3, 53139759: 53139759
10 RFT1 NM_052859.3(RFT1): c.887T> G (p.Ile296Arg) single nucleotide variant Pathogenic rs772820136 GRCh37 Chromosome 3, 53139759: 53139759
11 RFT1 NM_052859.3(RFT1): c.1222A> G (p.Met408Val) single nucleotide variant Pathogenic rs796053522 GRCh37 Chromosome 3, 53126621: 53126621
12 RFT1 NM_052859.3(RFT1): c.1325G> A (p.Arg442Gln) single nucleotide variant Pathogenic rs749968109 GRCh38 Chromosome 3, 53092502: 53092502

Expression for Congenital Disorder of Glycosylation, Type in

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

Pathways for Congenital Disorder of Glycosylation, Type in

GO Terms for Congenital Disorder of Glycosylation, Type in

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.56 CLU HP MPDU1 MPI PMM2 PTGDS
2 blood microparticle GO:0072562 9.33 CLU HP TF
3 endoplasmic reticulum membrane GO:0005789 9.1 ALG2 ALG3 ALG6 MPDU1 PTGDS RFT1

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

id Name GO ID Score Top Affiliating Genes
1 protein N-linked glycosylation via asparagine GO:0018279 9.46 MGAT2 UMOD
2 carbohydrate transport GO:0008643 9.43 RFT1 SLC35C1
3 positive regulation of receptor-mediated endocytosis GO:0048260 9.4 CLU TF
4 mannosylation GO:0097502 9.37 ALG2 ALG3
5 protein N-linked glycosylation GO:0006487 9.33 ALG6 MGAT2 PMM2
6 oligosaccharide biosynthetic process GO:0009312 9.32 MGAT2 MPDU1
7 GDP-mannose biosynthetic process GO:0009298 9.26 MPI PMM2
8 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.26 ALG2 ALG3 ALG6 MPDU1
9 protein glycosylation GO:0006486 9.17 ALG2 ALG3 ALG6 COG7 MGAT2 MPI

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

id Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 9.33 MPI PMM2 PTGDS
2 transferase activity, transferring hexosyl groups GO:0016758 9.26 ALG3 ALG6
3 transferase activity, transferring glycosyl groups GO:0016757 9.26 ALG2 ALG3 ALG6 MGAT2
4 alpha-1,3-mannosyltransferase activity GO:0000033 8.62 ALG2 ALG3

Sources for Congenital Disorder of Glycosylation, Type in

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....