Dyskeratosis Congenita Autosomal Dominant malady

MalaCards: Dyskeratosis Congenita Autosomal Dominant, also known as dyskeratosis congenita, autosomal dominant, is related to dyskeratosis congenita and dyskeratosis. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TERC (telomerase RNA component), and among its related pathways are Telomere Extension by Telomerase and Chromosome Maintenance. The compounds lipofectamine and adriamycin have been mentioned in the context of this disorder. Related mouse phenotype tumorigenesis.

OMIM: 127550

dyskeratosis congenita autosomal dominant 30 dyskeratosis congenita, autosomal dominant 33 32 autosomal dominant dyskeratosis congenita 30

dyskeratosis congenita scoggins type 30 dyskeratosis congenita 43 dkca 30

Diseases related to dyskeratosis congenita autosomal dominant by text searches and GeneDecks gene sharing:

(show all 44)

id	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita	31.8	TERC, DKC1, TERT
2	dyskeratosis	30.9	DKC1, TINF2, TERC, TERT
3	cerebellar hypoplasia	28.5	TINF2, DKC1
4	aplastic anemia	28.0	DKC1, TERT, TERC
5	renal agenesis	28.0	DKC1, TERT, TERC
6	anemia	27.0	TINF2, DKC1, TERT, TERC
7	pulmonary fibrosis, familial	12.8	TERT, TERC
8	gastritis	12.8	TERT, TERC
9	malignant peripheral nerve sheath tumor	12.7	TERT, TERC
10	idiopathic pulmonary fibrosis	12.7	TERT, TERC
11	teratoma	12.7	TERC, TERT
12	benign tumors	12.7	TERT, TERC
13	ependymoma	12.6	TERC, TERT
14	cerebrovascular disease	12.6	TERT, TERC
15	laryngeal cancer	12.5	TERT, TERC
16	cervical intraepithelial neoplasia	12.5	TERC, TERT
17	torch syndrome	12.5	TERC, DKC1
18	intrauterine infections	12.5	TERC, DKC1
19	lung benign neoplasm	12.4	TERT, TERC
20	urinary bladder cancer	12.1	TERT, TERC
21	pulmonary fibrosis	12.1	TINF2, TERT, TERC
22	malignant glioma	11.9	TERC, TERT, DKC1
23	lymphocytic leukemia	11.5	TERT, TINF2, DKC1
24	chronic lymphocytic leukemia	11.4	TERT, TINF2, DKC1
25	leukoplakia	11.4	TERC, TERT, TINF2, DKC1
26	prostate carcinoma	11.2	TERC, DKC1, TINF2, TERT
27	dyskeratosis congenita x-linked	9.0
28	dyskeratosis congenita autosomal recessive	8.8
29	dyskeratosis congenita-1	8.5
30	hoyeraal-hreidarsson syndrome	8.5
31	tinf2-related dyskeratosis congenita	8.1
32	terc-related dyskeratosis congenita	8.1
33	tert-related dyskeratosis congenita	8.1
34	wrap53-related dyskeratosis congenita	8.1
35	dkc1-related dyskeratosis congenita	8.1
36	nhp2-related dyskeratosis congenita	8.1
37	nop10-related dyskeratosis congenita	8.1
38	chondrodysplasia punctata	6.7
39	chondrodysplasia	6.7
40	hepatopulmonary syndrome	6.7
41	immunodeficiency	6.7
42	neutropenia	6.7
43	pulmonary disease	6.7
44	rothmund-thomson syndrome	6.7

Clinical features from OMIM: 127550

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to dyskeratosis congenita autosomal dominant:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	tumorigenesis	MP:0002006	8.6	TERC, TERT, DKC1

Genes related to dyskeratosis congenita autosomal dominant according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TERC	telomerase RNA component	11.1
2	TINF2	TERF1 (TRF1)-interacting nuclear factor 2	11.1
3	DKC1	dyskeratosis congenita 1, dyskerin	11.1
4	TERT	telomerase reverse transcriptase	11.1

Pathways related to dyskeratosis congenita autosomal dominant according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Telomere Extension by Telomerase36	9.3	TERT, TINF2
2	Chromosome Maintenance38	8.4	TERT, TINF2, DKC1
3	Telomerase Components in Cell Signaling36	8.2	TERT, TINF2, DKC1

Compounds related to dyskeratosis congenita autosomal dominant according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	lipofectamine32	9.5	TERT, TERC
2	adriamycin32	9.4	TERC, TERT
3	pseudouridine32 18	10.2	TERC, DKC1
4	rrna32	9.1	DKC1, TERC
5	zidovudine32 9 9	11.1	TERC, TERT
6	uridine32 9 18 9	12.0	TERC, DKC1
7	tin(2+)32	9.0	TERC, TERT, TINF2
8	adpribose32	9.0	TERC, TERT, TINF2

Cellular components related to dyskeratosis congenita autosomal dominant according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nuclear telomere cap complex	GO:000783	9.2	TERT, TINF2
2	telomerase holoenzyme complex	GO:005697	9.1	TERT, DKC1
3	chromosome, telomeric region	GO:000781	9.0	TERT, TINF2
4	nucleoplasm	GO:005654	8.5	TERT, TINF2, DKC1

Biological processes related to dyskeratosis congenita autosomal dominant according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	telomere maintenance via telomerase	GO:007004	9.1	TERT, DKC1
2	telomere maintenance	GO:000723	8.2	TERT, TINF2, DKC1

Molecular functions related to dyskeratosis congenita autosomal dominant according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	telomeric DNA binding	GO:042162	9.3	TERT, TINF2
2	telomerase activity	GO:003720	8.8	TERT, DKC1