MCID: DLK002
MIFTS: 8

Dolk-Congenital Disorder of Glycosylation

Aliases & Classifications for Dolk-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Dolk-Congenital Disorder of Glycosylation:

Name: Dolk-Congenital Disorder of Glycosylation 24
Congenital Disorder of Glycosylation, Type Im 24 69
Dolichol Kinase Deficiency 24
Dk1 Deficiency 24
Cdg1m 24

External Ids:

UMLS 69 C1835849

Summaries for Dolk-Congenital Disorder of Glycosylation

Genetics Home Reference : 24 DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.

MalaCards based summary : Dolk-Congenital Disorder of Glycosylation, also known as congenital disorder of glycosylation, type im, is related to congenital disorder of glycosylation, type im. Affiliated tissues include heart.

Related Diseases for Dolk-Congenital Disorder of Glycosylation

Diseases related to Dolk-Congenital Disorder of Glycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type im 12.4

Symptoms & Phenotypes for Dolk-Congenital Disorder of Glycosylation

Drugs & Therapeutics for Dolk-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Dolk-Congenital Disorder of Glycosylation

Genetic Tests for Dolk-Congenital Disorder of Glycosylation

Anatomical Context for Dolk-Congenital Disorder of Glycosylation

MalaCards organs/tissues related to Dolk-Congenital Disorder of Glycosylation:

38
Heart

Publications for Dolk-Congenital Disorder of Glycosylation

Articles related to Dolk-Congenital Disorder of Glycosylation:

# Title Authors Year
1
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. ( 28816422 )
2017
2
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). ( 22327749 )
2013

Variations for Dolk-Congenital Disorder of Glycosylation

Expression for Dolk-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Dolk-Congenital Disorder of Glycosylation.

Pathways for Dolk-Congenital Disorder of Glycosylation

GO Terms for Dolk-Congenital Disorder of Glycosylation

Sources for Dolk-Congenital Disorder of Glycosylation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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