DKCA
MCID: DYS039
MIFTS: 31

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

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 71
Autosomal Dominant Dyskeratosis Congenita 20
Dyskeratosis Congenita Scoggins Type 20
Dkca 20

Classifications:



External Ids:

UMLS 71 C1851970

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. Related phenotype is neoplasm.

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 33.0 TERT LOC110806263
2 dyskeratosis congenita, autosomal recessive 5 32.9 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 and/or bone marrow failure, telomere-related, 2 30.4 TERC LOC110806306
6 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 29.9 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
7 pulmonary fibrosis 29.8 TINF2 TERT TERC RTEL1 ACD
8 pancytopenia 29.8 TERT MECOM DKC1
9 dyskeratosis congenita, autosomal dominant 1 29.6 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
10 pulmonary fibrosis, idiopathic 29.0 TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
11 dyskeratosis congenita 27.2 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
12 dyskeratosis congenita, autosomal dominant 6 11.8
13 leukoplakia 10.3
14 inherited bone marrow failure syndromes 10.2 TERT TERC
15 postinflammatory pulmonary fibrosis 10.2 TERT TERC
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.1 RTEL1-TNFRSF6B RTEL1
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 congenital intrauterine infection-like syndrome 10.1 TERC DKC1
24 torch syndrome 10.1 TERC DKC1
25 cervical intraepithelial neoplasia 10.1 TERT TERC
26 chronic congestive splenomegaly 10.0 TERT DKC1
27 retinal telangiectasia 10.0 TINF2 DKC1
28 cerebellar hypoplasia 9.9 TINF2 RTEL1 DKC1
29 dyskeratosis congenita autosomal recessive 9.9 TERT RTEL1-TNFRSF6B RTEL1 ACD
30 acute interstitial pneumonia 9.9 TERT TERC RTEL1-TNFRSF6B LOC110806263
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 9.8 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 hoyeraal hreidarsson syndrome 9.5 TINF2 TERT TERC RTEL1 DKC1 ACD
38 myelodysplastic syndrome 9.5 TERT TERC RTEL1 MECOM
39 aplastic anemia 9.1 TINF2 TERT TERC RTEL1 LOC110806306 LOC110806263

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



Diseases related to Dyskeratosis Congenita Autosomal Dominant

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

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

Search Clinical Trials , NIH Clinical Center 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:

(show all 18)
# Title Authors PMID Year
1
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 6 54
11574891 2001
2
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. 6
22341970 2012
3
Structural analysis and anti-complement activity of polysaccharides from Kjellmaniella crsaaifolia. 61
25786064 2015
4
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 54
18460650 2008
5
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 54
18042801 2008
6
Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. 54
17875000 2007
7
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. 54
17640862 2007
8
Telomerase mutations in families with idiopathic pulmonary fibrosis. 54
17392301 2007
9
The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain. 54
17206847 2007
10
Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. 54
16825992 2006
11
TERC mutations in children with refractory cytopenia. 54
16670076 2006
12
The effect of TERC haploinsufficiency on the inheritance of telomere length. 54
16284252 2005
13
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 54
16247010 2005
14
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. 54
15319288 2004
15
Dyskeratosis congenita and telomerase. 54
14758110 2004
16
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. 54
12676774 2003
17
Phase diagram of a probabilistic cellular automaton with three-site interactions. 61
12636564 2003
18
Quasistationary distributions for the Domany-Kinzel stochastic cellular automaton. 61
12443287 2002

Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

6 (show top 50) (show all 203)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TERC NR_001566.1(TERC):n.374_1194del821 Deletion Pathogenic 7319 rs1553915517 3:169481651-169482471 3:169763863-169764683
2 TERC NR_001566.1(TERC):n.408C>G SNV Pathogenic 7320 rs199422284 3:169482441-169482441 3:169764653-169764653
3 TINF2 NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) SNV Pathogenic 38915 rs199422321 14:24709980-24709980 14:24240774-24240774
4 TINF2 NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) SNV Pathogenic 38916 rs142777869 14:24709952-24709952 14:24240746-24240746
5 TINF2 NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) SNV Pathogenic 5624 rs121918543 14:24709848-24709848 14:24240642-24240642
6 TINF2 NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter) SNV Pathogenic 38917 rs121918543 14:24709848-24709848 14:24240642-24240642
7 TGM1 NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) SNV Pathogenic 38918 rs199422322 14:24709845-24709845 14:24240639-24240639
8 TINF2 NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) SNV Pathogenic 5626 rs121918545 14:24709842-24709842 14:24240636-24240636
9 TINF2 NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) SNV Pathogenic 5627 rs121918545 14:24709842-24709842 14:24240636-24240636
10 TINF2 NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala) SNV Pathogenic 38919 rs199422311 14:24709839-24709839 14:24240633-24240633
11 TINF2 NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) SNV Pathogenic 38920 rs199422311 14:24709839-24709839 14:24240633-24240633
12 TINF2 NM_001099274.3(TINF2):c.848C>A (p.Pro283His) SNV Pathogenic 38921 rs199422313 14:24709838-24709838 14:24240632-24240632
13 TINF2 NM_001099274.3(TINF2):c.849dup (p.Thr284fs) Duplication Pathogenic 38922 rs199422315 14:24709836-24709837 14:24240630-24240631
14 TINF2 NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) SNV Pathogenic 38923 rs199422314 14:24709836-24709836 14:24240630-24240630
15 TINF2 NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) SNV Pathogenic 38924 rs199422316 14:24709826-24709826 14:24240620-24240620
16 TINF2 NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser) Indel Pathogenic 38926 rs199422318 14:24709820-24709821 14:24240614-24240615
17 TINF2 NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly) SNV Pathogenic 38927 rs199422319 14:24709815-24709815 14:24240609-24240609
18 TINF2 NM_001099274.3(TINF2):c.892del (p.Gln298fs) Deletion Pathogenic 38928 rs199422320 14:24709794-24709794 14:24240588-24240588
19 TERT TERT:c.1710G>Y (p.Lys570Asn) SNV Pathogenic 39103 rs1554041299 5:1282603-1282603 5:1282488-1282488
20 TERT NM_198253.3(TERT):c.2029G>T (p.Gly677Cys) SNV Pathogenic 39105 rs199422296 5:1279507-1279507 5:1279392-1279392
21 TERT NM_198253.3(TERT):c.2045G>A (p.Gly682Asp) SNV Pathogenic 39106 rs199422295 5:1279491-1279491 5:1279376-1279376
22 TERT NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) SNV Pathogenic 39108 rs199422297 5:1279426-1279426 5:1279311-1279311
23 TERT NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) SNV Pathogenic 39110 rs199422299 5:1278880-1278880 5:1278765-1278765
24 TERT NM_198253.3(TERT):c.2177C>T (p.Thr726Met) SNV Pathogenic 39111 rs149566858 5:1278865-1278865 5:1278750-1278750
25 TERT NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) SNV Pathogenic 12735 rs121918665 5:1264656-1264656 5:1264541-1264541
26 TERT NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) SNV Pathogenic 39118 rs199422305 5:1260624-1260624 5:1260509-1260509
27 TERC NR_001566.1(TERC):n.100T>A SNV Pathogenic 39280 rs199422269 3:169482749-169482749 3:169764961-169764961
28 TERC NR_001566.1(TERC):n.116C>T SNV Pathogenic 7326 rs199422272 3:169482733-169482733 3:169764945-169764945
29 TERC NR_001566.1(TERC):n.143G>A SNV Pathogenic 39282 rs199422274 3:169482706-169482706 3:169764918-169764918
30 TERC NR_001566.1(TERC):n.204C>G SNV Pathogenic 7322 rs199422277 3:169482645-169482645 3:169764857-169764857
31 TERC NR_001566.1(TERC):n.216_229del Deletion Pathogenic 39285 rs199422278 3:169482620-169482633 3:169764832-169764845
32 TERC NR_001566.1(TERC):n.410C>G SNV Pathogenic 39295 rs199422286 3:169482439-169482439 3:169764651-169764651
33 LOC110806306 NR_001566.1(TERC):n.48A>G SNV Pathogenic 39297 rs199422262 3:169482801-169482801 3:169765013-169765013
34 LOC110806306 NR_001566.1(TERC):n.53_87del Deletion Pathogenic 39299 rs199422264 3:169482762-169482796 3:169764974-169765008
35 TERC NR_001566.1(TERC):n.79del Deletion Pathogenic 39300 rs199422266 3:169482770-169482770 3:169764982-169764982
36 TERC NR_001566.1(TERC):n.96_97del Deletion Pathogenic 39301 rs199422267 3:169482752-169482753 3:169764964-169764965
37 ACTRT3 NM_032487.4(ACTRT3):c.831_*2687del2976 Deletion Pathogenic 40977 3:169482529-169485504 3:169764741-169767716
38 LOC110806306 NR_001566.1(TERC):n.2G>C SNV Pathogenic 39288 rs199422257 3:169482847-169482847 3:169765059-169765059
39 LOC110806306 NR_001566.1(TERC):n.35C>T SNV Pathogenic 39292 rs199422260 3:169482814-169482814 3:169765026-169765026
40 TERC NR_001566.1(TERC):n.107_108delinsAG Indel Pathogenic 7321 rs199476393 3:169482741-169482742 3:169764953-169764954
41 TERC NR_001566.1(TERC):n.-240_-239del Microsatellite Pathogenic 39279 rs199422255 3:169483087-169483088 3:169765299-169765300
42 TERC NR_001566.1(TERC):n.110_113del Deletion Pathogenic 7325 rs199422270 3:169482736-169482739 3:169764948-169764951
43 LOC110806306 NR_001566.1(TERC):n.67del Deletion Pathogenic 950972 3:169482782-169482782 3:169764994-169764994
44 LOC110806306 NR_001566.1(TERC):n.54_57del Deletion Pathogenic 30265 rs199422263 3:169482792-169482795 3:169765004-169765007
45 TERC NC_000003.12:g.(?_169481351)_(169484227_?)del Deletion Likely pathogenic 972905 3:169481351-169484227
46 TERC NM_004991.4(MECOM):c.38-100973_38-100960del Deletion Likely pathogenic 972906 3:169200272-169200285 3:169482484-169482497
47 TERC NR_001566.1(TERC):n.443C>A SNV Likely pathogenic 436977 rs1553915577 3:169482406-169482406 3:169764618-169764618
48 TERC NR_001566.1(TERC):n.306T>G SNV Likely pathogenic 436976 rs1553915591 3:169482543-169482543 3:169764755-169764755
49 TERC NM_004991.4(MECOM):c.38-101211_38-101210del Deletion Likely pathogenic 916672 3:169200522-169200523 3:169482734-169482735
50 TERC NM_004991.4(MECOM):c.38-101210del Deletion Likely pathogenic 916673 3:169200522-169200522 3:169482734-169482734

Expression for Dyskeratosis Congenita Autosomal Dominant

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

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
Show member pathways
11.79 TINF2 TERT DKC1 ACD
2
Show member pathways
11.68 TINF2 MECOM ACD
3 10.74 TINF2 TERT DKC1 ACD

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 for Dyskeratosis Congenita Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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