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 25
Congenital Disorder of Glycosylation, Type Im 25 73
Dolichol Kinase Deficiency 25
Dk1 Deficiency 25
Cdg1m 25

External Ids:

UMLS 73 C1835849

Summaries for Dolk-Congenital Disorder of Glycosylation

Genetics Home Reference : 25 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 11.7

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:

41
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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