MCID: DLK002
MIFTS: 9

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 26
Congenital Disorder of Glycosylation, Type Im 26 74
Dolichol Kinase Deficiency 26
Dk1 Deficiency 26
Cdg1m 26

External Ids:

UMLS 74 C1835849

Summaries for Dolk-Congenital Disorder of Glycosylation

Genetics Home Reference : 26 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 and dilated cardiomyopathy. 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 12.6
2 dilated cardiomyopathy 10.0

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:

42
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
3
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. ( 23890587 )
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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