MCID: CNG411
MIFTS: 33

Congenital Disorder of Glycosylation, Type in malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Liver diseases, Muscle diseases categories

Aliases & Classifications for Congenital Disorder of Glycosylation, Type in

About this section

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

Name: Congenital Disorder of Glycosylation, Type in 45 10
Congenital Disorders of Glycosylation 41 20 22 60
Carbohydrate-Deficient Glycoprotein Syndromes 41 22
 
Carbohydrate-Deficient Glycoprotein Syndrome 9 43
Congenital Disorder of Glycosylation 9 11
Cdg 41


Classifications:



External Ids:

OMIM45 612015
Disease Ontology9 DOID:5212
SNOMED-CT55 238049009
NCIt38 C84615
MeSH33 D018981

Summaries for Congenital Disorder of Glycosylation, Type in

About this section


NIH Rare Diseases:41 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 ia and congenital disorder of glycosylation, type ic, 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 (S. cerevisiae)). Affiliated tissues include liver and cerebellum.

Disease Ontology:9 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

OMIM:45 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders... (612015) more...

Related Diseases for Congenital Disorder of Glycosylation, Type in

About this section

Diseases in the Congenital Disorder of Glycosylation, Type Ie 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 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 Ig
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Iv 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 89)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type ia10.9
2congenital disorder of glycosylation, type ic10.8
3congenital disorder of glycosylation, type ie10.7
4pepck 2 deficiency10.7
5congenital disorder of glycosylation, type iii10.7
6congenital disorder of glycosylation, type ii10.7
7congenital disorder of glycosylation, type id10.6
8congenital disorder of glycosylation, type ib10.6
9congenital disorder of glycosylation, type ik10.6
10congenital disorder of glycosylation, type iic10.6
11congenital disorder of glycosylation, type iia10.6
12congenital disorder of glycosylation, type ig10.6
13congenital disorder of glycosylation, type iid10.6
14congenital disorder of glycosylation, type ih10.6
15congenital disorder of glycosylation, type if10.6
16congenital disorder of glycosylation, type il10.5
17congenital disorder of glycosylation, type ij10.5
18congenital disorder of glycosylation, type iih10.5
19congenital disorder of glycosylation, type it10.5
20congenital disorder of glycosylation, type iif10.5
21congenital disorder of glycosylation, type iig10.5
22skeletal dysplasias10.5
23alg12-congenital disorder of glycosylation10.5
24dk1-cdg10.5
25congenital disorder of glycosylation, type ir10.4
26congenital disorder of glycosylation, type io10.4
27congenital disorder of glycosylation, type iib10.4
28congenital disorder of glycosylation, type ix10.4
29congenital disorder of glycosylation, type iq10.4
30congenital disorder of glycosylation, type iik10.4
31congenital disorder of glycosylation, type iu10.4
32congenital disorder of glycosylation, type im10.4
33congenital disorder of glycosylation, type iil10.4
34congenital disorder of glycosylation, type ip10.4
35congenital disorder of glycosylation, type iij10.4
36congenital disorder of glycosylation, type iim10.4
37congenital disorder of glycosylation type i/iix10.4
38slc35a2-cdg10.4
39gcs1-cdg10.4
40olivopontocerebellar atrophy10.4
41cerebellar hypoplasia10.4
42congenital disorder of glycosylation, type iw10.4
43congenital disorder of glycosylation, type iy10.4
44leukocyte adhesion deficiency10.4
45congenital disorder of glycosylation, type iv10.4
46hypertrophic cardiomyopathy10.4
47retinitis10.4
48cerebellar ataxia10.3
49liver disease10.3
50protein-losing enteropathy10.3

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

About this section


Clinical features from OMIM:

612015

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

(show all 27)
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 abnormal 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 autosomal recessive inheritance HP:0000007
22 seizures HP:0001250
23 muscular hypotonia HP:0001252
24 global developmental delay HP:0001263
25 hepatomegaly HP:0002240
26 abnormal isoelectric focusing of serum transferrin HP:0003160
27 abnormality of the coagulation cascade HP:0003256

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type in

About this section

Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation, Type in

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

Genetic Tests for Congenital Disorder of Glycosylation, Type in

About this section

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

id Genetic test Affiliating Genes
1 Congenital Disorders of Glycosylation20
2 Congenital Disorders of Glycosylation Multi-Gene Panels20
3 Congenital Disorder of Glycosylation22
4 Carbohydrate-Deficient Glycoprotein Syndrome22

Anatomical Context for Congenital Disorder of Glycosylation, Type in

About this section

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

31
Liver, Cerebellum

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

About this section

Publications for Congenital Disorder of Glycosylation, Type in

About this section

Variations for Congenital Disorder of Glycosylation, Type in

About this section

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

62
id Symbol AA change Variation ID SNP ID
1RFT1p.Arg67CysVAR_044334
2RFT1p.Lys152GluVAR_062572
3RFT1p.Glu298LysVAR_062573

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1RFT1NM_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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Disorder of Glycosylation, Type in

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet