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

DKCA MCID: DYS039 MIFTS: 34	Dyskeratosis Congenita Autosomal Dominant (DKCA) Categories: Blood diseases, Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

Sources

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Dominant:

Name: Dyskeratosis Congenita Autosomal Dominant ²⁰ ⁶

Dyskeratosis Congenita, Autosomal Dominant ⁵⁴ ⁷⁰

Autosomal Dominant Dyskeratosis Congenita ²⁰

Dyskeratosis Congenita Scoggins Type ²⁰

Dkca ²⁰

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁰ C1851970

Sources

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 recessive 5. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TERC (Telomerase RNA Component), and among its related pathways/superpathways are Chromosome Maintenance and DNA Damage/Telomere Stress Induced Senescence. Affiliated tissues include eye, bone marrow and bone, and related phenotype is neoplasm.

Sources

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 39)

#	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita, autosomal dominant 2	33.1	TERT LOC110806263
2	dyskeratosis congenita, autosomal recessive 5	32.8	RTEL1-TNFRSF6B RTEL1
3	dyskeratosis congenita, autosomal dominant 3	32.7	TINF2 TGM1
4	revesz syndrome	31.5	TINF2 TGM1 TERT TERC RTEL1 DKC1
5	pulmonary fibrosis predisposition	30.5	TERT TERC
6	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	30.4	TERC LOC110806306
7	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	29.9	TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
8	pancytopenia	29.7	TINF2 TERT MECOM DKC1
9	dyskeratosis congenita, autosomal dominant 1	29.6	TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
10	pulmonary fibrosis	29.2	TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
11	pulmonary fibrosis, idiopathic	29.0	TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
12	dyskeratosis congenita	27.2	TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
13	dyskeratosis congenita, autosomal dominant 6	11.8
14	leukoplakia	10.3
15	inherited bone marrow failure syndromes	10.2	TERT TERC
16	postinflammatory pulmonary fibrosis	10.2	TERT TERC
17	dowling-degos disease 1	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	pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	10.1	RTEL1-TNFRSF6B RTEL1
24	congenital intrauterine infection-like syndrome	10.1	TERC DKC1
25	torch syndrome	10.1	TERC DKC1
26	cervical intraepithelial neoplasia	10.1	TERT TERC
27	chronic congestive splenomegaly	10.0	TERT DKC1
28	retinal telangiectasia	10.0	TINF2 DKC1
29	dyskeratosis congenita autosomal recessive	9.9	TERT RTEL1-TNFRSF6B RTEL1 ACD
30	cerebellar hypoplasia	9.9	TINF2 RTEL1 DKC1
31	dyskeratosis congenita, x-linked	9.8	TINF2 TERT TERC DKC1
32	shwachman-diamond syndrome 1	9.8	TINF2 TERT TERC DKC1
33	melanoma, cutaneous malignant 1	9.8	TINF2 TERT TERC RTEL1 ACD
34	diamond-blackfan anemia	9.7	TINF2 TERT TERC DKC1
35	coats disease	9.6	TINF2 TERC RTEL1 DKC1 ACD
36	fanconi anemia, complementation group a	9.5	TINF2 TERC RTEL1 DKC1
37	myelodysplastic syndrome	9.5	TERT TERC RTEL1 MECOM
38	hoyeraal hreidarsson syndrome	9.3	TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 DKC1
39	aplastic anemia	9.1	TINF2 TERT TERC RTEL1 LOC110806306 LOC110806263

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

Sources

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	9.02	ACD DKC1 MECOM RTEL1 TERT

Sources

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

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

Sources

Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

Sources

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

MalaCards organs/tissues related to Dyskeratosis Congenita Autosomal Dominant:

⁴⁰

Eye, Bone Marrow, Bone

Sources

Publications for Dyskeratosis Congenita Autosomal Dominant

Articles related to Dyskeratosis Congenita Autosomal Dominant:

(show all 31)

#	Title	Authors	PMID	Year
1	Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. ⁶ ⁵⁴	Marrone A...Dokal I	17640862	2007
2	Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. ⁶ ⁵⁴	Marrone A...Mason PJ	15319288	2004
3	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. ⁶ ⁵⁴	Vulliamy T...Dokal I	11574891	2001
4	Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. ⁶	Norberg A...Hultdin M	29483670	2018
5	An Activity Switch in Human Telomerase Based on RNA Conformation and Shaped by TCAB1. ⁶	Chen L...Artandi SE	29804836	2018
6	Cryo-EM structure of substrate-bound human telomerase holoenzyme. ⁶	Nguyen THD...Collins K	29695869	2018
7	Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. ⁶	Borie R...Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P)	25612863	2015
8	Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. ⁶	Jongmans MC...Kuiper RP	22341970	2012
9	Architecture of human telomerase RNA. ⁶	Zhang Q...Feigon J	21844345	2011
10	Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. ⁶	Vulliamy TJ...Dokal I	21931702	2011
11	Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. ⁶	Robart AR...Collins K	20022961	2010
12	A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. ⁶	Venteicher AS...Artandi SE	19179534	2009
13	Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. ⁶	Vulliamy TJ...Dokal I	16332973	2006
14	Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. ⁶	Ly H...Lansdorp PM	15886322	2005
15	Functional analysis of the pseudoknot structure in human telomerase RNA. ⁶	Chen JL...Greider CW	15849264	2005
16	Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. ⁶	Vulliamy T...Dokal I	15098033	2004
17	Telomerase RNA structure and function: implications for dyskeratosis congenita. ⁶	Chen JL...Greider CW	15082312	2004
18	Structural analysis and anti-complement activity of polysaccharides from Kjellmaniella crsaaifolia. ⁶¹	Zhang W...Zhang Q	25786064	2015
19	Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. ⁵⁴	Basel-Vanagaite L...Vulliamy T	18460650	2008
20	Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. ⁵⁴	Du HY...Bessler M	18042801	2008
21	Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. ⁵⁴	Du HY...Bessler M	17875000	2007
22	Telomerase mutations in families with idiopathic pulmonary fibrosis. ⁵⁴	Armanios MY...Loyd JE	17392301	2007
23	The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain. ⁵⁴	Yingling YG...Shapiro BA	17206847	2007
24	Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. ⁵⁴	Field JJ...Wilson DB	16825992	2006
25	TERC mutations in children with refractory cytopenia. ⁵⁴	Ortmann CA...Kratz CP	16670076	2006
26	The effect of TERC haploinsufficiency on the inheritance of telomere length. ⁵⁴	Goldman F...Bessler M	16284252	2005
27	Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. ⁵⁴	Armanios M...Greider CW	16247010	2005
28	Dyskeratosis congenita and telomerase. ⁵⁴	Bessler M...Mason PJ	14758110	2004
29	Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. ⁵⁴	Yamaguchi H...Young NS	12676774	2003
30	Phase diagram of a probabilistic cellular automaton with three-site interactions. ⁶¹	Atman AP...Moreira JG	12636564	2003
31	Quasistationary distributions for the Domany-Kinzel stochastic cellular automaton. ⁶¹	Atman AP...Dickman R	12443287	2002

Sources

Genes for Dyskeratosis Congenita Autosomal Dominant

Genes related to Dyskeratosis Congenita Autosomal Dominant (5 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TERC	Telomerase RNA Component	RNA Gene	446.14	Pathogenic ⁶ Likely pathogenic ⁶ Novoseek inferred ⁵⁴ GeneCards inferred via : Variants (show sections)	11574891 17206847 16284252 (more) 17392301 12676774 16670076 17875000 17640862 15319288 16825992 18042801
2	TERT	Telomerase Reverse Transcriptase	Protein Coding	431.38	Pathogenic ⁶ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	16247010 17392301 18460650 (more) 17875000 17640862
3	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	419.2	Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)
4	LOC110806306	Telomerase RNA Component (TERC) Promoter	Biological Region	409.08	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	22341970 16332973 15082312 (more) 21844345
5	TGM1	Transglutaminase 1	Protein Coding	407.6	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
6	MECOM	MDS1 And EVI1 Complex Locus	Protein Coding	32.8	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
7	INPP4A	Inositol Polyphosphate-4-Phosphatase Type I A	Protein Coding	32.25	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	15849264 21931702
8	ACD	ACD Shelterin Complex Subunit And Telomerase Recruitment Factor	Protein Coding	19.68	GeneCards inferred via : Disorders Variants (show sections)
9	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	18.42	GeneCards inferred via : Disorders Variants (show sections)
10	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	10.22	Novoseek inferred ⁵⁴	14758110
11	LOC110806263	TERT 5' Regulatory Region	Biological Region	9.36	GeneCards inferred via : Variants (show sections)
12	RTEL1-TNFRSF6B	RTEL1-TNFRSF6B Readthrough (NMD Candidate)	RNA Gene	8.94	GeneCards inferred via : Variants (show sections)
13	ACTRT3	Actin Related Protein T3	Protein Coding	7.25	GeneCards inferred via : Variants (show sections)

Sources

Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

⁶ (show top 50) (show all 243)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TERC	NR_001566.1(TERC):n.374_1194del821	Deletion	Pathogenic	7319	rs1553915517	GRCh37: 3:169481651-169482471 GRCh38: 3:169763863-169764683
2	TERC	NR_001566.1(TERC):n.408C>G	SNV	Pathogenic	7320	rs199422284	GRCh37: 3:169482441-169482441 GRCh38: 3:169764653-169764653
3	LOC110806306 , TERC	NR_001566.1(TERC):n.54_57del	Deletion	Pathogenic	30265	rs199422263	GRCh37: 3:169482792-169482795 GRCh38: 3:169765004-169765007
4	TERT	NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)	SNV	Pathogenic	12735	rs121918665	GRCh37: 5:1264656-1264656 GRCh38: 5:1264541-1264541
5	TERC	NR_001566.1(TERC):n.143G>A	SNV	Pathogenic	39282	rs199422274	GRCh37: 3:169482706-169482706 GRCh38: 3:169764918-169764918
6	TERC	NR_001566.1(TERC):n.204C>G	SNV	Pathogenic	7322	rs199422277	GRCh37: 3:169482645-169482645 GRCh38: 3:169764857-169764857
7	TERC	NR_001566.1(TERC):n.216_229del	Deletion	Pathogenic	39285	rs199422278	GRCh37: 3:169482620-169482633 GRCh38: 3:169764832-169764845
8	TERC	NR_001566.1(TERC):n.100T>A	SNV	Pathogenic	39280	rs199422269	GRCh37: 3:169482749-169482749 GRCh38: 3:169764961-169764961
9	LOC110806306 , TERC	NR_001566.1(TERC):n.2G>C	SNV	Pathogenic	39288	rs199422257	GRCh37: 3:169482847-169482847 GRCh38: 3:169765059-169765059
10	TERC	NR_001566.1(TERC):n.410C>G	SNV	Pathogenic	39295	rs199422286	GRCh37: 3:169482439-169482439 GRCh38: 3:169764651-169764651
11	LOC110806306 , TERC	NR_001566.1(TERC):n.48A>G	SNV	Pathogenic	39297	rs199422262	GRCh37: 3:169482801-169482801 GRCh38: 3:169765013-169765013
12	TERC and overlap with 1 gene(s)	NR_001566.1(TERC):n.53_87del	Deletion	Pathogenic	39299	rs199422264	GRCh37: 3:169482762-169482796 GRCh38: 3:169764974-169765008
13	TERC	NR_001566.1(TERC):n.79del	Deletion	Pathogenic	39300	rs199422266	GRCh37: 3:169482770-169482770 GRCh38: 3:169764982-169764982
14	TERC	NR_001566.1(TERC):n.96_97del	Deletion	Pathogenic	39301	rs199422267	GRCh37: 3:169482752-169482753 GRCh38: 3:169764964-169764965
15	LOC110806306 , TERC	NR_001566.1(TERC):n.67del	Deletion	Pathogenic	950972		GRCh37: 3:169482782-169482782 GRCh38: 3:169764994-169764994
16	TERC	NR_001566.1(TERC):n.110_113del	Deletion	Pathogenic	7325	rs199422270	GRCh37: 3:169482736-169482739 GRCh38: 3:169764948-169764951
17	TERC , LOC110806306	NR_001566.1(TERC):n.-240_-239del	Microsatellite	Pathogenic	39279	rs199422255	GRCh37: 3:169483087-169483088 GRCh38: 3:169765299-169765300
18	TERC	NR_001566.1(TERC):n.107_108delinsAG	Indel	Pathogenic	7321	rs199476393	GRCh37: 3:169482741-169482742 GRCh38: 3:169764953-169764954
19	TERT	NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	SNV	Pathogenic	39118	rs199422305	GRCh37: 5:1260624-1260624 GRCh38: 5:1260509-1260509
20	TERT	NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	SNV	Pathogenic	39111	rs149566858	GRCh37: 5:1278865-1278865 GRCh38: 5:1278750-1278750
21	TERT	NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	SNV	Pathogenic	39108	rs199422297	GRCh37: 5:1279426-1279426 GRCh38: 5:1279311-1279311
22	TINF2	NM_001099274.3(TINF2):c.892del (p.Gln298fs)	Deletion	Pathogenic	38928	rs199422320	GRCh37: 14:24709794-24709794 GRCh38: 14:24240588-24240588
23	TINF2	NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)	SNV	Pathogenic	38927	rs199422319	GRCh37: 14:24709815-24709815 GRCh38: 14:24240609-24240609
24	TINF2	NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser)	Indel	Pathogenic	38926	rs199422318	GRCh37: 14:24709820-24709821 GRCh38: 14:24240614-24240615
25	TINF2	NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)	SNV	Pathogenic	38924	rs199422316	GRCh37: 14:24709826-24709826 GRCh38: 14:24240620-24240620
26	TINF2	NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)	SNV	Pathogenic	38923	rs199422314	GRCh37: 14:24709836-24709836 GRCh38: 14:24240630-24240630
27	TINF2	NM_001099274.3(TINF2):c.849dup (p.Thr284fs)	Duplication	Pathogenic	38922	rs199422315	GRCh37: 14:24709836-24709837 GRCh38: 14:24240630-24240631
28	TINF2	NM_001099274.3(TINF2):c.848C>A (p.Pro283His)	SNV	Pathogenic	38921	rs199422313	GRCh37: 14:24709838-24709838 GRCh38: 14:24240632-24240632
29	TINF2	NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)	SNV	Pathogenic	38920	rs199422311	GRCh37: 14:24709839-24709839 GRCh38: 14:24240633-24240633
30	TINF2	NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala)	SNV	Pathogenic	38919	rs199422311	GRCh37: 14:24709839-24709839 GRCh38: 14:24240633-24240633
31	TINF2	NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	SNV	Pathogenic	5627	rs121918545	GRCh37: 14:24709842-24709842 GRCh38: 14:24240636-24240636
32	TINF2	NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)	SNV	Pathogenic	5626	rs121918545	GRCh37: 14:24709842-24709842 GRCh38: 14:24240636-24240636
33	TGM1 , TINF2	NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)	SNV	Pathogenic	38918	rs199422322	GRCh37: 14:24709845-24709845 GRCh38: 14:24240639-24240639
34	TINF2	NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)	SNV	Pathogenic	38917	rs121918543	GRCh37: 14:24709848-24709848 GRCh38: 14:24240642-24240642
35	TINF2	NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	SNV	Pathogenic	5624	rs121918543	GRCh37: 14:24709848-24709848 GRCh38: 14:24240642-24240642
36	TINF2	NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	SNV	Pathogenic	38916	rs142777869	GRCh37: 14:24709952-24709952 GRCh38: 14:24240746-24240746
37	TINF2	NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)	SNV	Pathogenic	38915	rs199422321	GRCh37: 14:24709980-24709980 GRCh38: 14:24240774-24240774
38	overlap with 3 genes	NM_032487.4(ACTRT3):c.831_*2687del2976	Deletion	Pathogenic	40977		GRCh37: 3:169482529-169485504 GRCh38: 3:169764741-169767716
39	TERT	NM_198253.3(TERT):c.2162C>G (p.Pro721Arg)	SNV	Pathogenic	39110	rs199422299	GRCh37: 5:1278880-1278880 GRCh38: 5:1278765-1278765
40	TERT	NM_198253.3(TERT):c.2045G>A (p.Gly682Asp)	SNV	Pathogenic	39106	rs199422295	GRCh37: 5:1279491-1279491 GRCh38: 5:1279376-1279376
41	TERT	NM_198253.3(TERT):c.2029G>T (p.Gly677Cys)	SNV	Pathogenic	39105	rs199422296	GRCh37: 5:1279507-1279507 GRCh38: 5:1279392-1279392
42	TERT	TERT:c.1710G>Y (p.Lys570Asn)	SNV	Pathogenic	39103	rs1554041299	GRCh37: 5:1282603-1282603 GRCh38: 5:1282488-1282488
43	TERC , MECOM	NM_004991.4(MECOM):c.38-101210del	Deletion	Likely pathogenic	916673		GRCh37: 3:169200522-169200522 GRCh38: 3:169482734-169482734
44	TERC , MECOM	NM_004991.4(MECOM):c.38-101211_38-101210del	Deletion	Likely pathogenic	916672		GRCh37: 3:169200522-169200523 GRCh38: 3:169482734-169482735
45	TERC	NR_001566.1(TERC):n.407_408delinsAA	Indel	Likely pathogenic	446379	rs1553915580	GRCh37: 3:169482441-169482442 GRCh38: 3:169764653-169764654
46	TERC , MECOM	NC_000003.12:g.(?_169481351)_(169484227_?)del	Deletion	Likely pathogenic	972905		GRCh37: GRCh38: 3:169481351-169484227
47	TERC , MECOM	NM_004991.4(MECOM):c.38-100973_38-100960del	Deletion	Likely pathogenic	972906		GRCh37: 3:169200272-169200285 GRCh38: 3:169482484-169482497
48	TERC	NR_001566.1(TERC):n.443C>A	SNV	Likely pathogenic	436977	rs1553915577	GRCh37: 3:169482406-169482406 GRCh38: 3:169764618-169764618
49	TERC	NR_001566.1(TERC):n.306T>G	SNV	Likely pathogenic	436976	rs1553915591	GRCh37: 3:169482543-169482543 GRCh38: 3:169764755-169764755
50	INPP4A	NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)	SNV	Likely pathogenic	623236	rs1306444586	GRCh37: 2:99136547-99136547 GRCh38: 2:98520084-98520084

Sources

Expression for Dyskeratosis Congenita Autosomal Dominant

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

Sources

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 ⁶⁵ Show member pathways Deposition of new CENPA-containing nucleosomes at the centromere ⁶⁵ Nucleosome assembly ⁶⁵ Telomere Maintenance ⁶⁵	11.79	TINF2 TERT DKC1 ACD
2	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 ²³	11.68	TINF2 MECOM ACD
3	Regulation of Telomerase ¹	10.74	TINF2 TERT DKC1 ACD

Sources

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	shelterin complex	GO:0070187	9.37	TINF2 ACD
2	chromosome, telomeric region	GO:0000781	9.35	TINF2 TERT TERC RTEL1 ACD
3	nuclear telomere cap complex	GO:0000783	9.33	TINF2 TERT ACD
4	box H/ACA telomerase RNP complex	GO:0090661	9.32	TERC DKC1
5	telomerase catalytic core complex	GO:0000333	9.26	TERT TERC
6	telomerase holoenzyme complex	GO:0005697	8.92	TERT TERC DKC1 ACD

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA biosynthetic process	GO:0071897	9.51	TERT TERC
2	positive regulation of telomerase activity	GO:0051973	9.49	DKC1 ACD
3	positive regulation of telomere maintenance via telomerase	GO:0032212	9.48	DKC1 ACD
4	telomere capping	GO:0016233	9.46	TINF2 ACD
5	negative regulation of cellular senescence	GO:2000773	9.43	TERT TERC
6	negative regulation of telomere maintenance via telomerase	GO:0032211	9.4	TINF2 ACD
7	regulation of double-strand break repair via homologous recombination	GO:0010569	9.37	RTEL1-TNFRSF6B RTEL1
8	protein localization to chromosome, telomeric region	GO:0070198	9.32	TINF2 ACD
9	establishment of protein localization to telomere	GO:0070200	9.26	TERT ACD
10	telomere maintenance	GO:0000723	9.26	TERT RTEL1-TNFRSF6B RTEL1 ACD
11	telomere assembly	GO:0032202	9.16	TINF2 ACD
12	telomere maintenance via telomerase	GO:0007004	8.92	TERT TERC DKC1 ACD

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

#	Name	GO ID	Score	Top Affiliating Genes
1	4 iron, 4 sulfur cluster binding	GO:0051539	9.43	RTEL1-TNFRSF6B RTEL1
2	telomerase RNA binding	GO:0070034	9.4	TERT DKC1
3	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	9.37	RTEL1-TNFRSF6B RTEL1
4	telomeric DNA binding	GO:0042162	9.33	TINF2 TERT ACD
5	RNA-directed DNA polymerase activity	GO:0003964	9.32	TERT TERC
6	telomerase RNA reverse transcriptase activity	GO:0003721	9.26	TERT TERC
7	DNA polymerase binding	GO:0070182	9.13	TERC RTEL1 ACD
8	telomerase activity	GO:0003720	8.8	TERT TERC DKC1

Sources

Sources for Dyskeratosis Congenita Autosomal Dominant

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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

MGI Mouse Phenotypes related to 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

MalaCards organs/tissues related to 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 (5 elite genes):

Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease 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