Dyskeratosis Congenita-1 malady

MalaCards: Dyskeratosis Congenita-1, also known as dyskeratosis congenita, is related to dyskeratosis and dyskeratosis congenita. An important gene associated with Dyskeratosis Congenita-1 is DKC1 (dyskeratosis congenita 1, dyskerin). The compound pseudouridine have been mentioned in the context of this disorder.

OMIM: 305000

dyskeratosis congenita-1 33 dyskeratosis congenita 43

Disease types for dyskeratosis congenita family:

dyskeratosis congenita-1

Diseases related to dyskeratosis congenita-1 by text searches and GeneDecks gene sharing:

(show all 24)

id	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis	36.2	TRUB2, TRUB1, DKC1
2	dyskeratosis congenita	36.2	TRUB2, TRUB1, DKC1
3	dyskeratosis congenita autosomal dominant	9.2
4	dyskeratosis congenita x-linked	9.0
5	dyskeratosis congenita autosomal recessive	8.8
6	hoyeraal-hreidarsson syndrome	8.5
7	dkc1-related dyskeratosis congenita	8.1
8	nhp2-related dyskeratosis congenita	8.1
9	nop10-related dyskeratosis congenita	8.1
10	tinf2-related dyskeratosis congenita	8.1
11	terc-related dyskeratosis congenita	8.1
12	tert-related dyskeratosis congenita	8.1
13	wrap53-related dyskeratosis congenita	8.1
14	cerebellar hypoplasia	6.7
15	hepatopulmonary syndrome	6.7
16	immunodeficiency	6.7
17	neutropenia	6.7
18	pulmonary disease	6.7
19	renal agenesis	6.7
20	rothmund-thomson syndrome	6.7
21	anemia	6.7
22	aplastic anemia	6.7
23	chondrodysplasia punctata	6.7
24	chondrodysplasia	6.7

Clinical features from OMIM: 305000

Approved drugs:

Drug clinical trials:

Articles related to dyskeratosis congenita-1:

id	Title	Authors	Year	Affiliating Genes
1	The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. (12736709)	Zucchini C.... Valvassori L.	2003	DKC1, TRUB1, TRUB2

Genes related to dyskeratosis congenita-1 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	DKC1	dyskeratosis congenita 1, dyskerin	11.1	Transcripts, Publications, Aliases & Descriptions, Orthologs
2	TRUB2	TruB pseudouridine (psi) synthase homolog 2 (E. coli)	11.0	Publications
3	TRUB1	TruB pseudouridine (psi) synthase homolog 1 (E. coli)	11.0	Publications

Compounds related to dyskeratosis congenita-1 according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	pseudouridine32 18	9.5	TRUB2, TRUB1, DKC1

Biological processes related to dyskeratosis congenita-1 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	tRNA processing	GO:008033	9.1	TRUB2, TRUB1
2	pseudouridine synthesis	GO:001522	8.2	TRUB2, TRUB1, DKC1

Molecular functions related to dyskeratosis congenita-1 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	RNA binding	GO:003723	8.5	TRUB2, TRUB1, DKC1
2	pseudouridine synthase activity	GO:009982	8.2	TRUB2, TRUB1, DKC1