Dyskeratosis Congenita Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Dominant:

Name: Dyskeratosis Congenita Autosomal Dominant ⁵²

Dyskeratosis Congenita, Autosomal Dominant ⁵⁴ ⁷¹

Autosomal Dominant Dyskeratosis Congenita ⁵²

Dyskeratosis Congenita Scoggins Type ⁵²

Dkca ⁵²

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Blood diseases Bone diseases Immune diseases Liver diseases

See all MalaCards categories (disease lists)

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UMLS ⁷¹ C1851970

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Summaries for Dyskeratosis Congenita Autosomal Dominant

MalaCards based summary : Dyskeratosis Congenita Autosomal Dominant, also known as dyskeratosis congenita, autosomal dominant, is related to dyskeratosis congenita, autosomal dominant 2 and dyskeratosis congenita, autosomal dominant 3. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways are DNA Damage/Telomere Stress Induced Senescence and Regulation of Telomerase.

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Related Diseases for Dyskeratosis Congenita Autosomal Dominant

Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita, Autosomal Dominant 1	Dyskeratosis Congenita, Autosomal Recessive 1
Dyskeratosis Congenita, Autosomal Recessive 2	Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Dominant 2	Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 5	Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6	Dyskeratosis Congenita Autosomal Dominant
Dyskeratosis Congenita Autosomal Recessive

Diseases related to Dyskeratosis Congenita Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)

#	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita, autosomal dominant 2	34.6	TERT LOC110806263
2	dyskeratosis congenita, autosomal dominant 3	34.1	TINF2 TGM1
3	dyskeratosis congenita, autosomal recessive 5	33.3	RTEL1-TNFRSF6B RTEL1
4	revesz syndrome	32.0	TINF2 TGM1 TERT TERC RTEL1 ACD
5	dyskeratosis congenita, autosomal dominant 1	31.3	TINF2 TERT TERC MECOM LOC110806306 LOC110806263
6	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	30.5	TERC LOC110806306
7	pulmonary fibrosis	29.9	TINF2 TERT TERC RTEL1
8	pulmonary fibrosis, idiopathic	29.8	TINF2 TERT TERC RTEL1
9	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	29.6	TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
10	dyskeratosis congenita	26.0	TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
11	dyskeratosis congenita, autosomal dominant 6	12.8
12	leukoplakia	10.3
13	pulmonary fibrosis, familial	10.3	TERT TERC
14	inherited bone marrow failure syndromes	10.2	TERT TERC
15	retinal telangiectasia	10.1	TINF2 TERC
16	dowling-degos disease 1	10.1
17	pancytopenia	10.1
18	retinal ischemia	10.1
19	telangiectasis	10.1
20	agammaglobulinemia	10.1
21	lymphopenia	10.1
22	oral leukoplakia	10.1
23	cervical intraepithelial neoplasia	10.1	TERT TERC
24	dyskeratosis congenita, x-linked	10.1	TINF2 TERT TERC
25	pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	10.0	RTEL1-TNFRSF6B RTEL1
26	coats disease	9.9	TINF2 TERC RTEL1
27	diamond-blackfan anemia	9.8	TINF2 TERT TERC
28	dyskeratosis congenita autosomal recessive	9.6	TERT RTEL1-TNFRSF6B RTEL1 ACD
29	hoyeraal hreidarsson syndrome	9.5	TINF2 TERT TERC RTEL1 ACD
30	melanoma, cutaneous malignant 1	9.5	TINF2 TERT TERC RTEL1 ACD
31	aplastic anemia	9.5	TINF2 TERT TERC RTEL1 ACD
32	myelodysplastic syndrome	9.4	TERT TERC RTEL1 MECOM
33	osteoporosis	9.3	TINF2 TERT RTEL1 ACD

Graphical network of the top 20 diseases related to Dyskeratosis Congenita Autosomal Dominant:

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Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Dominant

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita Autosomal Dominant

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Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

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Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

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Publications for Dyskeratosis Congenita Autosomal Dominant

Articles related to Dyskeratosis Congenita Autosomal Dominant:

#	Title	Authors	PMID	Year
1	Structural analysis and anti-complement activity of polysaccharides from Kjellmaniella crsaaifolia. ⁶¹	Zhang W...Zhang Q	25786064	2015
2	Phase diagram of a probabilistic cellular automaton with three-site interactions. ⁶¹	Atman AP...Moreira JG	12636564	2003
3	Quasistationary distributions for the Domany-Kinzel stochastic cellular automaton. ⁶¹	Atman AP...Dickman R	12443287	2002

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Genes for Dyskeratosis Congenita Autosomal Dominant

Genes related to Dyskeratosis Congenita Autosomal Dominant (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TERT	Telomerase Reverse Transcriptase	Protein Coding	21.58	GeneCards inferred via : Disorders Variants (show sections)
2	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	19.53	GeneCards inferred via : Disorders Variants (show sections)
3	ACD	ACD Shelterin Complex Subunit And Telomerase Recruitment Factor	Protein Coding	19.36	GeneCards inferred via : Disorders Variants (show sections)
4	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	17.32	GeneCards inferred via : Disorders Variants (show sections)
5	TERC	Telomerase RNA Component	RNA Gene	9.72	GeneCards inferred via : Variants (show sections)
6	LOC110806263	TERT 5' Regulatory Region	Biological Region	9.27	GeneCards inferred via : Variants (show sections)
7	LOC110806306	Telomerase RNA Component (TERC) Promoter	Biological Region	8.94	GeneCards inferred via : Variants (show sections)
8	MECOM	MDS1 And EVI1 Complex Locus	Protein Coding	7.76	GeneCards inferred via : Variants (show sections)
9	RTEL1-TNFRSF6B	RTEL1-TNFRSF6B Readthrough (NMD Candidate)	RNA Gene	7.76	GeneCards inferred via : Variants (show sections)
10	TGM1	Transglutaminase 1	Protein Coding	7.76	GeneCards inferred via : Variants (show sections)
11	ACTRT3	Actin Related Protein T3	Protein Coding	7.42	GeneCards inferred via : Variants (show sections)
12	INPP4A	Inositol Polyphosphate-4-Phosphatase Type I A	Protein Coding	7.42	GeneCards inferred via : Variants (show sections)

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Variations for Dyskeratosis Congenita Autosomal Dominant

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Expression for Dyskeratosis Congenita Autosomal Dominant

Search GEO for disease gene expression data for Dyskeratosis Congenita Autosomal Dominant.

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Pathways for Dyskeratosis Congenita Autosomal Dominant

Pathways related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	DNA Damage/Telomere Stress Induced Senescence ⁶⁵ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁵ Packaging Of Telomere Ends ⁶⁵ Signal transduction Activin A signaling regulation ²²	11.48	TINF2 MECOM ACD
2	Regulation of Telomerase ¹	10.62	TINF2 TERT ACD

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GO Terms for Dyskeratosis Congenita Autosomal Dominant

Cellular components related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromosome, telomeric region	GO:0000784	9.5	TINF2 TERT ACD
2	telomerase holoenzyme complex	GO:0005697	9.37	TERT TERC
3	shelterin complex	GO:0070187	9.26	TINF2 ACD
4	telomerase catalytic core complex	GO:0000333	9.16	TERT TERC
5	nuclear telomere cap complex	GO:0000783	9.13	TINF2 TERT ACD
6	chromosome, telomeric region	GO:0000781	9.02	TINF2 TERT TERC RTEL1 ACD

Biological processes related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleobase-containing compound metabolic process	GO:0006139	9.49	RTEL1-TNFRSF6B RTEL1
2	DNA biosynthetic process	GO:0071897	9.48	TERT TERC
3	telomere capping	GO:0016233	9.46	TINF2 ACD
4	negative regulation of cellular senescence	GO:2000773	9.43	TERT TERC
5	telomere maintenance via telomerase	GO:0007004	9.4	TERT TERC
6	regulation of double-strand break repair via homologous recombination	GO:0010569	9.37	RTEL1-TNFRSF6B RTEL1
7	negative regulation of telomere maintenance via telomerase	GO:0032211	9.32	TINF2 ACD
8	protein localization to chromosome, telomeric region	GO:0070198	9.26	TINF2 ACD
9	establishment of protein localization to telomere	GO:0070200	9.16	TERT ACD
10	telomere assembly	GO:0032202	8.96	TINF2 ACD
11	telomere maintenance	GO:0000723	8.92	TERT RTEL1-TNFRSF6B RTEL1 ACD

Molecular functions related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	9.91	TINF2 TERT RTEL1-TNFRSF6B RTEL1 MECOM ACD
2	4 iron, 4 sulfur cluster binding	GO:0051539	9.4	RTEL1-TNFRSF6B RTEL1
3	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	9.37	RTEL1-TNFRSF6B RTEL1
4	RNA-directed DNA polymerase activity	GO:0003964	9.32	TERT TERC
5	telomerase activity	GO:0003720	9.26	TERT TERC
6	telomerase RNA reverse transcriptase activity	GO:0003721	9.16	TERT TERC
7	telomeric DNA binding	GO:0042162	9.13	TINF2 TERT ACD
8	DNA polymerase binding	GO:0070182	8.8	TERC RTEL1 ACD

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Dyskeratosis Congenita Autosomal Dominant (DKCA)

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Dominant:

Classifications:

External Ids:

Summaries for Dyskeratosis Congenita Autosomal Dominant

Related Diseases for Dyskeratosis Congenita Autosomal Dominant

Diseases in the Dyskeratosis Congenita family:

Diseases related to Dyskeratosis Congenita Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Dyskeratosis Congenita Autosomal Dominant:

Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Dominant

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

Publications for Dyskeratosis Congenita Autosomal Dominant

Articles related to Dyskeratosis Congenita Autosomal Dominant:

Genes for Dyskeratosis Congenita Autosomal Dominant

Genes related to Dyskeratosis Congenita Autosomal Dominant (0 elite genes):

Variations for Dyskeratosis Congenita Autosomal Dominant

Expression for Dyskeratosis Congenita Autosomal Dominant

Pathways for Dyskeratosis Congenita Autosomal Dominant

Pathways related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

GO Terms for Dyskeratosis Congenita Autosomal Dominant

Cellular components related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

Biological processes related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

Molecular functions related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

Sources for Dyskeratosis Congenita Autosomal Dominant