Hoyeraal-hreidarsson Syndrome malady

MalaCards: Hoyeraal-hreidarsson Syndrome is related to dyskeratosis congenita and dyskeratosis. An important gene associated with Hoyeraal-hreidarsson Syndrome is DKC1 (dyskeratosis congenita 1, dyskerin), and among its related pathways are Telomerase Components in Cell Signaling and Chromosome Maintenance. The compounds lipofectamine and tin(2+) have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, and related mouse phenotypes are tumorigenesis and growth/size.

hoyeraal-hreidarsson syndrome 7 43

Diseases related to hoyeraal-hreidarsson syndrome by text searches and GeneDecks gene sharing:

(show all 28)

id	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita	34.7	TERC, TERT, DKC1
2	dyskeratosis	32.5	DKC1, TERT, TERC
3	cerebellar hypoplasia	31.5	DKC1, DCLRE1B
4	pulmonary fibrosis, familial	12.7	TERC, TERT
5	torch syndrome	12.7	DKC1, TERC
6	gastritis	12.6	TERT, TERC
7	intrauterine infections	12.6	TERC, DKC1
8	malignant peripheral nerve sheath tumor	12.6	TERC, TERT
9	idiopathic pulmonary fibrosis	12.6	TERT, TERC
10	teratoma	12.5	TERC, TERT
11	benign tumors	12.5	TERT, TERC
12	ependymoma	12.4	TERC, TERT
13	cerebrovascular disease	12.4	TERT, TERC
14	cervical intraepithelial neoplasia	12.3	TERC, TERT
15	urinary bladder cancer	12.3	TERC, TERT
16	laryngeal cancer	12.2	TERC, TERT
17	dyskeratosis congenita autosomal dominant	12.2	DKC1, TERT, TERC
18	aplastic anemia	12.2	DKC1, TERT, TERC
19	renal agenesis	12.2	TERT, TERC, DKC1
20	leukoplakia	12.1	TERC, TERT, DKC1
21	malignant glioma	12.1	TERT, DKC1, TERC
22	lung benign neoplasm	12.0	TERC, TERT
23	fanconi's anemia	11.8	TERC, DCLRE1B, DKC1
24	anemia	11.3	TERC, DCLRE1B, DKC1, TERT
25	immunodeficiency	8.6
26	combined immunodeficiency	7.7
27	pancytopenia	7.7
28	severe combined immunodeficiency	7.7

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to hoyeraal-hreidarsson syndrome:

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MGI Mouse Phenotypes related to hoyeraal-hreidarsson syndrome:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	tumorigenesis	MP:0002006	8.5	TERC, TERT, DKC1
2	growth/size phenotype	MP:0005378	8.0	TERC, TERT, DKC1, DCLRE1B

Articles related to hoyeraal-hreidarsson syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. (20479256)	Touzot F.... Revy P.	2010	DCLRE1B
2	An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. (18627054)	Pearson T.... der Kaloustian V.M.	2008	DKC1
3	Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (17785587)	Marrone A.... Dokal I.	2007	TERT, DKC1
4	Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (14648217)	Sznajer Y.... Verloes A.	2003	DKC1
5	A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (12437656)	Cossu F.... Dokal I.	2002	DKC1
6	Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. (10700698)	Yaghmai R.... Metzenberg A.	2000	DKC1
7	Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (10583221)	Knight S.W.... Dokal I.	1999	DKC1
8	The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (7607282)	Aalfs C.M.... Hennekam R.C.	1995	DKC1

Genes related to hoyeraal-hreidarsson syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	DKC1	dyskeratosis congenita 1, dyskerin	11.1	Publications, Summaries
2	TERC	telomerase RNA component	11.1
3	DCLRE1B	DNA cross-link repair 1B	11.0	Publications
4	TERT	telomerase reverse transcriptase	11.0	Publications

Pathways related to hoyeraal-hreidarsson syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Telomerase Components in Cell Signaling36	9.4	TERT, DKC1
2	Chromosome Maintenance38	9.1	TERT, DKC1

Compounds related to hoyeraal-hreidarsson syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	lipofectamine32	9.5	TERC, TERT
2	tin(2+)32	9.5	TERC, TERT
3	pseudouridine32 18	10.4	DKC1, TERC
4	rrna32	9.4	TERC, DKC1
5	uridine32 9 18 9	12.3	TERC, DKC1
6	adriamycin32	9.3	TERC, TERT
7	zidovudine32 9 9	11.2	TERT, TERC
8	adpribose32	9.0	TERT, TERC

Cellular components related to hoyeraal-hreidarsson syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	telomerase holoenzyme complex	GO:005697	9.1	TERT, DKC1
2	chromosome, telomeric region	GO:000781	9.1	TERT, DCLRE1B

Biological processes related to hoyeraal-hreidarsson syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	telomere maintenance via telomerase	GO:007004	9.4	TERT, DKC1
2	telomere maintenance	GO:000723	8.3	TERT, DKC1, DCLRE1B

Molecular functions related to hoyeraal-hreidarsson syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	telomerase activity	GO:003720	9.4	TERT, DKC1