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

MCID: DYS039 MIFTS: 29	Dyskeratosis Congenita Autosomal Dominant Categories: Rare diseases, Genetic diseases, Skin diseases, Blood diseases, Neuronal diseases, Eye diseases, Fetal diseases, Immune diseases
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Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Dominant:

Name: Dyskeratosis Congenita Autosomal Dominant ⁵³ ²⁹ ⁶

Dyskeratosis Congenita, Autosomal Dominant ⁵⁵ ⁷³

Autosomal Dominant Dyskeratosis Congenita ⁵³

Dyskeratosis Congenita Scoggins Type ⁵³

Dkca ⁵³

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷³ 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 1 and revesz syndrome. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways are Chromosome Maintenance and Lung fibrosis. Related phenotype is neoplasm.

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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 18)

#	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita, autosomal dominant 1	33.5	TERC TERT TINF2
2	revesz syndrome	33.1	DKC1 TINF2
3	dyskeratosis congenita, autosomal dominant 6	32.9	ACD CARMIL2 PARD6A
4	dyskeratosis congenita, autosomal recessive 5	32.4	RTEL1 RTEL1-TNFRSF6B
5	dyskeratosis congenita, autosomal dominant 2	12.5
6	dyskeratosis congenita, autosomal dominant 3	12.5
7	inherited bone marrow failure syndromes	10.4	TERC TERT
8	congenital intrauterine infection-like syndrome	10.2	DKC1 TERC
9	cervical intraepithelial neoplasia	10.1	TERC TERT
10	torch syndrome	10.0	DKC1 TERC
11	pancytopenia	9.8	DKC1 TERT
12	melanoma, cutaneous malignant 1	9.7	ACD TERT
13	pulmonary fibrosis, idiopathic	9.7	RTEL1 TERC TERT
14	pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	9.6	RTEL1 RTEL1-TNFRSF6B
15	pulmonary fibrosis	9.5	RTEL1 TERC TERT TINF2
16	aplastic anemia	8.9	DKC1 RTEL1 TERC TERT TINF2
17	dyskeratosis congenita autosomal recessive	7.6	ACD CARMIL2 PARD6A RTEL1 RTEL1-TNFRSF6B TERT
18	dyskeratosis congenita	6.8	ACD DKC1 PARD6A RTEL1 RTEL1-TNFRSF6B TERC

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

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Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Dominant

MGI Mouse Phenotypes related to Dyskeratosis Congenita Autosomal Dominant:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	8.92	ACD DKC1 RTEL1 TERT

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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

Genetic tests related to Dyskeratosis Congenita Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Dyskeratosis Congenita Autosomal Dominant ²⁹	TERC TERT TINF2

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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	Year
1	Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita. ( 23661544 )	Vaz-Pereira S....Mufti G.J.	2013
2	Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation. ( 23094712 )	Gleeson M....Smith O.P.	2012
3	Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita. ( 19852575 )	Johnson C.A....Pulido J.S.	2009
4	Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. ( 18460650 )	Basel-Vanagaite L....Vulliamy T.	2008
5	Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. ( 16247010 )	Armanios M....Greider C.W.	2005
6	Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. ( 15238429 )	Knudson M....Goldman F.	2005
7	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. ( 11574891 )	Vulliamy T....Dokal I.	2001

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Genes for Dyskeratosis Congenita Autosomal Dominant

Genes related to Dyskeratosis Congenita Autosomal Dominant (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TERT	Telomerase Reverse Transcriptase	Protein Coding	540.82	Pathogenic ⁶ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	16247010 17392301 18460650 (more) 17875000 17640862
2	TERC	Telomerase RNA Component	RNA Gene	530.72	Pathogenic ⁶ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Variants (show sections)	17206847 16284252 17392301 (more) 12676774 11574891 16670076 17875000 17640862 15319288 16825992 18042801
3	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	529.36	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)
4	ACD	ACD, Shelterin Complex Subunit And Telomerase Recruitment Factor	Protein Coding	28.47	GeneCards inferred via : Disorders Variants (show sections)
5	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	27.85	GeneCards inferred via : Disorders Variants (show sections)
6	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	20.22	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	14758110
7	PARD6A	Par-6 Family Cell Polarity Regulator Alpha	Protein Coding	18.49	GeneCards inferred via : Variants (show sections)
8	CARMIL2	Capping Protein Regulator And Myosin 1 Linker 2	Protein Coding	18.24	GeneCards inferred via : Variants (show sections)
9	RTEL1-TNFRSF6B	RTEL1-TNFRSF6B Readthrough (NMD Candidate)	RNA Gene	18.04	GeneCards inferred via : Variants (show sections)

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Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

⁶

(show top 50) (show all 127)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TINF2	NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)	single nucleotide variant	Pathogenic	rs121918543	GRCh37	Chromosome 14, 24709848: 24709848
2	TINF2	NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)	single nucleotide variant	Pathogenic	rs121918543	GRCh38	Chromosome 14, 24240642: 24240642
3	TINF2	NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)	single nucleotide variant	Pathogenic	rs121918545	GRCh37	Chromosome 14, 24709842: 24709842
4	TINF2	NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)	single nucleotide variant	Pathogenic	rs121918545	GRCh38	Chromosome 14, 24240636: 24240636
5	TINF2	NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)	single nucleotide variant	Pathogenic	rs121918545	GRCh37	Chromosome 14, 24709842: 24709842
6	TINF2	NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)	single nucleotide variant	Pathogenic	rs121918545	GRCh38	Chromosome 14, 24240636: 24240636
7	TERC	NR_001566.1(TERC): n.374_1194del821	deletion	Pathogenic		GRCh37	Chromosome 3, 169481655: 169482475
8	TERC	NR_001566.1(TERC): n.374_1194del821	deletion	Pathogenic		GRCh38	Chromosome 3, 169763867: 169764687
9	TERC	NR_001566.1(TERC): n.408C> G	single nucleotide variant	Pathogenic	rs199422284	GRCh37	Chromosome 3, 169482441: 169482441
10	TERC	NR_001566.1(TERC): n.408C> G	single nucleotide variant	Pathogenic	rs199422284	GRCh38	Chromosome 3, 169764653: 169764653
11	TERC	NR_001566.1(TERC): n.107_108delGCinsAG	indel	Pathogenic	rs199476393	GRCh37	Chromosome 3, 169482741: 169482742
12	TERC	NR_001566.1(TERC): n.107_108delGCinsAG	indel	Pathogenic	rs199476393	GRCh38	Chromosome 3, 169764953: 169764954
13	TERC	NR_001566.1(TERC): n.204C> G	single nucleotide variant	Pathogenic	rs199422277	GRCh37	Chromosome 3, 169482645: 169482645
14	TERC	NR_001566.1(TERC): n.204C> G	single nucleotide variant	Pathogenic	rs199422277	GRCh38	Chromosome 3, 169764857: 169764857
15	TERC	NR_001566.1(TERC): n.116C> T	single nucleotide variant	Pathogenic	rs199422272	GRCh37	Chromosome 3, 169482733: 169482733
16	TERC	NR_001566.1(TERC): n.116C> T	single nucleotide variant	Pathogenic	rs199422272	GRCh38	Chromosome 3, 169764945: 169764945
17	TERT	NM_198253.2(TERT): c.2706G> C (p.Lys902Asn)	single nucleotide variant	Pathogenic	rs121918665	GRCh37	Chromosome 5, 1264656: 1264656
18	TERT	NM_198253.2(TERT): c.2706G> C (p.Lys902Asn)	single nucleotide variant	Pathogenic	rs121918665	GRCh38	Chromosome 5, 1264541: 1264541
19	TERC	NR_001566.1(TERC): n.54_57delAACT	deletion	Pathogenic	rs199422263	GRCh37	Chromosome 3, 169482792: 169482795
20	TERC	NR_001566.1(TERC): n.54_57delAACT	deletion	Pathogenic	rs199422263	GRCh38	Chromosome 3, 169765004: 169765007
21	TINF2	NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro)	single nucleotide variant	Pathogenic	rs199422316	GRCh38	Chromosome 14, 24240620: 24240620
22	TINF2	NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser)	indel	Pathogenic	rs199422318	GRCh38	Chromosome 14, 24240614: 24240615
23	TINF2	NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly)	single nucleotide variant	Pathogenic	rs199422319	GRCh37	Chromosome 14, 24709815: 24709815
24	TINF2	NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser)	indel	Pathogenic	rs199422318	GRCh37	Chromosome 14, 24709820: 24709821
25	TINF2	NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly)	single nucleotide variant	Pathogenic	rs199422319	GRCh38	Chromosome 14, 24240609: 24240609
26	TINF2	NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs)	deletion	Pathogenic	rs199422320	GRCh37	Chromosome 14, 24709794: 24709794
27	TINF2	NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs)	deletion	Pathogenic	rs199422320	GRCh38	Chromosome 14, 24240588: 24240588
28	TINF2	NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro)	single nucleotide variant	Pathogenic	rs199422316	GRCh37	Chromosome 14, 24709826: 24709826
29	TINF2	NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala)	single nucleotide variant	Pathogenic	rs199422314	GRCh38	Chromosome 14, 24240630: 24240630
30	TINF2	NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter)	single nucleotide variant	Pathogenic	rs121918543	GRCh37	Chromosome 14, 24709848: 24709848
31	TINF2	NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter)	single nucleotide variant	Pathogenic	rs121918543	GRCh38	Chromosome 14, 24240642: 24240642
32	TINF2	NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala)	single nucleotide variant	Pathogenic	rs199422311	GRCh37	Chromosome 14, 24709839: 24709839
33	TINF2	NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala)	single nucleotide variant	Pathogenic	rs199422311	GRCh38	Chromosome 14, 24240633: 24240633
34	TINF2	NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser)	single nucleotide variant	Pathogenic	rs199422311	GRCh37	Chromosome 14, 24709839: 24709839
35	TINF2	NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser)	single nucleotide variant	Pathogenic	rs199422311	GRCh38	Chromosome 14, 24240633: 24240633
36	TINF2	NM_001099274.1(TINF2): c.848C> A (p.Pro283His)	single nucleotide variant	Pathogenic	rs199422313	GRCh37	Chromosome 14, 24709838: 24709838
37	TINF2	NM_001099274.1(TINF2): c.848C> A (p.Pro283His)	single nucleotide variant	Pathogenic	rs199422313	GRCh38	Chromosome 14, 24240632: 24240632
38	TINF2	NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs)	duplication	Pathogenic	rs199422315	GRCh37	Chromosome 14, 24709837: 24709837
39	TINF2	NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs)	duplication	Pathogenic	rs199422315	GRCh38	Chromosome 14, 24240631: 24240631
40	TINF2	NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala)	single nucleotide variant	Pathogenic	rs199422314	GRCh37	Chromosome 14, 24709836: 24709836
41	TERT	TERT: c.1710G> Y (p.Lys570Asn)	single nucleotide variant	Pathogenic
42	TERT	NM_198253.2(TERT): c.2029G> T (p.Gly677Cys)	single nucleotide variant	Pathogenic	rs199422296	GRCh37	Chromosome 5, 1279507: 1279507
43	TERT	NM_198253.2(TERT): c.2029G> T (p.Gly677Cys)	single nucleotide variant	Pathogenic	rs199422296	GRCh38	Chromosome 5, 1279392: 1279392
44	TERT	NM_198253.2(TERT): c.2045G> A (p.Gly682Asp)	single nucleotide variant	Pathogenic	rs199422295	GRCh37	Chromosome 5, 1279491: 1279491
45	TERT	NM_198253.2(TERT): c.2045G> A (p.Gly682Asp)	single nucleotide variant	Pathogenic	rs199422295	GRCh38	Chromosome 5, 1279376: 1279376
46	TERT	NM_198253.2(TERT): c.2162C> G (p.Pro721Arg)	single nucleotide variant	Pathogenic	rs199422299	GRCh37	Chromosome 5, 1278880: 1278880
47	TERT	NM_198253.2(TERT): c.2162C> G (p.Pro721Arg)	single nucleotide variant	Pathogenic	rs199422299	GRCh38	Chromosome 5, 1278765: 1278765
48	TERC	NR_001566.1(TERC): n.-240_-239del	deletion	Pathogenic	rs199422255	GRCh37	Chromosome 3, 169483087: 169483088
49	TERC	NR_001566.1(TERC): n.-240_-239del	deletion	Pathogenic	rs199422255	GRCh38	Chromosome 3, 169765299: 169765300
50	TERC	NR_001566.1(TERC): n.100T> A	single nucleotide variant	Pathogenic	rs199422269	GRCh37	Chromosome 3, 169482749: 169482749

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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	Chromosome Maintenance ⁶⁶ Show member pathways Deposition of new CENPA-containing nucleosomes at the centromere ⁶⁶ Nucleosome assembly ⁶⁶ Telomere Maintenance ⁶⁶	11.79	ACD DKC1 TERT TINF2
2	Lung fibrosis ¹	10.96	RTEL1 TERT
3	Regulation of Telomerase ¹	10.74	ACD DKC1 TERT TINF2

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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	9.58	ACD TERT TINF2
2	Cajal body	GO:0015030	9.43	DKC1 TERC
3	shelterin complex	GO:0070187	9.37	ACD TINF2
4	telomerase holoenzyme complex	GO:0005697	9.33	DKC1 TERC TERT
5	box H/ACA telomerase RNP complex	GO:0090661	9.32	DKC1 TERC
6	telomerase catalytic core complex	GO:0000333	9.26	TERC TERT
7	nuclear telomere cap complex	GO:0000783	9.13	ACD TERT TINF2
8	chromosome, telomeric region	GO:0000781	9.02	ACD RTEL1 TERC TERT TINF2

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleobase-containing compound metabolic process	GO:0006139	9.55	RTEL1 RTEL1-TNFRSF6B
2	DNA duplex unwinding	GO:0032508	9.54	RTEL1 RTEL1-TNFRSF6B
3	establishment or maintenance of cell polarity	GO:0007163	9.52	CARMIL2 PARD6A
4	DNA biosynthetic process	GO:0071897	9.51	TERC TERT
5	positive regulation of telomerase activity	GO:0051973	9.49	ACD DKC1
6	positive regulation of telomere maintenance via telomerase	GO:0032212	9.48	ACD DKC1
7	telomere capping	GO:0016233	9.46	ACD TINF2
8	negative regulation of telomere maintenance via telomerase	GO:0032211	9.43	ACD TINF2
9	negative regulation of cellular senescence	GO:2000773	9.4	TERC TERT
10	regulation of double-strand break repair via homologous recombination	GO:0010569	9.37	RTEL1 RTEL1-TNFRSF6B
11	protein localization to chromosome, telomeric region	GO:0070198	9.32	ACD TINF2
12	establishment of protein localization to telomere	GO:0070200	9.26	ACD TERT
13	telomere assembly	GO:0032202	9.16	ACD TINF2
14	telomere maintenance via telomerase	GO:0007004	9.13	DKC1 TERC TERT
15	telomere maintenance	GO:0000723	8.92	ACD RTEL1 RTEL1-TNFRSF6B TERT

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex binding	GO:0044877	9.63	ACD CARMIL2 TERC
2	iron-sulfur cluster binding	GO:0051536	9.51	RTEL1 RTEL1-TNFRSF6B
3	4 iron, 4 sulfur cluster binding	GO:0051539	9.49	RTEL1 RTEL1-TNFRSF6B
4	ATP-dependent DNA helicase activity	GO:0004003	9.48	RTEL1 RTEL1-TNFRSF6B
5	telomerase RNA binding	GO:0070034	9.43	DKC1 TERT
6	DNA polymerase binding	GO:0070182	9.4	ACD TERC
7	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	9.37	RTEL1 RTEL1-TNFRSF6B
8	ATP-dependent helicase activity	GO:0008026	9.32	RTEL1 RTEL1-TNFRSF6B
9	RNA-directed DNA polymerase activity	GO:0003964	9.26	TERC TERT
10	telomerase RNA reverse transcriptase activity	GO:0003721	9.16	TERC TERT
11	telomeric DNA binding	GO:0042162	9.13	ACD TERT TINF2
12	telomerase activity	GO:0003720	8.8	DKC1 TERC TERT

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