DKCA
MCID: DYS039
MIFTS: 32

Dyskeratosis Congenita Autosomal Dominant (DKCA)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver 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 53 29 6
Dyskeratosis Congenita, Autosomal Dominant 55 73
Autosomal Dominant Dyskeratosis Congenita 53
Dyskeratosis Congenita Scoggins Type 53
Dkca 53

Classifications:



External Ids:

UMLS 73 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 1 and dyskeratosis congenita, autosomal dominant 6. 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. Affiliated tissues include bone, skin and liver.

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 14)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 1 33.6 TERC TERT TINF2
2 dyskeratosis congenita, autosomal dominant 6 33.5 ACD CARMIL2 PARD6A
3 dyskeratosis congenita, autosomal recessive 5 33.1 RTEL1 RTEL1-TNFRSF6B
4 revesz syndrome 33.0 TERC TERT TINF2
5 dyskeratosis congenita 29.6 ACD PARD6A RTEL1 RTEL1-TNFRSF6B TERC TERT
6 dyskeratosis congenita, autosomal dominant 2 12.7
7 dyskeratosis congenita, autosomal dominant 3 12.7
8 inherited bone marrow failure syndromes 10.0 TERC TERT
9 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 9.9 RTEL1 RTEL1-TNFRSF6B
10 cervical intraepithelial neoplasia 9.9 TERC TERT
11 pulmonary fibrosis, idiopathic 9.8 RTEL1 TERC TERT
12 pulmonary fibrosis 9.8 RTEL1 TERC TERT TINF2
13 aplastic anemia 9.7 RTEL1 TERC TERT TINF2
14 dyskeratosis congenita autosomal recessive 9.2 ACD CARMIL2 PARD6A RTEL1 RTEL1-TNFRSF6B TERT

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

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

Genetic tests related to Dyskeratosis Congenita Autosomal Dominant:

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

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

MalaCards organs/tissues related to Dyskeratosis Congenita Autosomal Dominant:

41
Bone, Skin, Liver, Eye, Bone Marrow

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 )
2013
2
Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation. ( 23094712 )
2012
3
Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita. ( 19852575 )
2009
4
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. ( 18460650 )
2008
5
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. ( 16247010 )
2005
6
Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. ( 15238429 )
2005
7
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. ( 11574891 )
2001

Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

6 (show top 50) (show all 179)
# 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.58G> A single nucleotide variant Benign rs113487931 GRCh37 Chromosome 3, 169482791: 169482791
16 TERC NR_001566.1(TERC): n.58G> A single nucleotide variant Benign rs113487931 GRCh38 Chromosome 3, 169765003: 169765003
17 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh37 Chromosome 3, 169482733: 169482733
18 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh38 Chromosome 3, 169764945: 169764945
19 TERT NM_198253.2(TERT): c.2706G> C (p.Lys902Asn) single nucleotide variant Pathogenic rs121918665 GRCh37 Chromosome 5, 1264656: 1264656
20 TERT NM_198253.2(TERT): c.2706G> C (p.Lys902Asn) single nucleotide variant Pathogenic rs121918665 GRCh38 Chromosome 5, 1264541: 1264541
21 TERC NR_001566.1(TERC): n.54_57delAACT deletion Pathogenic rs199422263 GRCh37 Chromosome 3, 169482792: 169482795
22 TERC NR_001566.1(TERC): n.54_57delAACT deletion Pathogenic rs199422263 GRCh38 Chromosome 3, 169765004: 169765007
23 TINF2 NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser) single nucleotide variant Likely benign rs199422321 GRCh37 Chromosome 14, 24709980: 24709980
24 TINF2 NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser) single nucleotide variant Likely benign rs199422321 GRCh38 Chromosome 14, 24240774: 24240774
25 TINF2 NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs142777869 GRCh37 Chromosome 14, 24709952: 24709952
26 TINF2 NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs142777869 GRCh38 Chromosome 14, 24240746: 24240746
27 TINF2 NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter) single nucleotide variant Pathogenic rs121918543 GRCh37 Chromosome 14, 24709848: 24709848
28 TINF2 NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter) single nucleotide variant Pathogenic rs121918543 GRCh38 Chromosome 14, 24240642: 24240642
29 TINF2 NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys) single nucleotide variant Likely benign rs199422322 GRCh37 Chromosome 14, 24709845: 24709845
30 TINF2 NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys) single nucleotide variant Likely benign rs199422322 GRCh38 Chromosome 14, 24240639: 24240639
31 TINF2 NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala) single nucleotide variant Pathogenic rs199422311 GRCh37 Chromosome 14, 24709839: 24709839
32 TINF2 NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala) single nucleotide variant Pathogenic rs199422311 GRCh38 Chromosome 14, 24240633: 24240633
33 TINF2 NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser) single nucleotide variant Pathogenic rs199422311 GRCh37 Chromosome 14, 24709839: 24709839
34 TINF2 NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser) single nucleotide variant Pathogenic rs199422311 GRCh38 Chromosome 14, 24240633: 24240633
35 TINF2 NM_001099274.1(TINF2): c.848C> A (p.Pro283His) single nucleotide variant Pathogenic rs199422313 GRCh37 Chromosome 14, 24709838: 24709838
36 TINF2 NM_001099274.1(TINF2): c.848C> A (p.Pro283His) single nucleotide variant Pathogenic rs199422313 GRCh38 Chromosome 14, 24240632: 24240632
37 TINF2 NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs) duplication Pathogenic rs199422315 GRCh37 Chromosome 14, 24709837: 24709837
38 TINF2 NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs) duplication Pathogenic rs199422315 GRCh38 Chromosome 14, 24240631: 24240631
39 TINF2 NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala) single nucleotide variant Pathogenic rs199422314 GRCh37 Chromosome 14, 24709836: 24709836
40 TINF2 NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala) single nucleotide variant Pathogenic rs199422314 GRCh38 Chromosome 14, 24240630: 24240630
41 TINF2 NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro) single nucleotide variant Pathogenic rs199422316 GRCh37 Chromosome 14, 24709826: 24709826
42 TINF2 NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro) single nucleotide variant Pathogenic rs199422316 GRCh38 Chromosome 14, 24240620: 24240620
43 TINF2 NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser) indel Pathogenic rs199422318 GRCh37 Chromosome 14, 24709820: 24709821
44 TINF2 NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser) indel Pathogenic rs199422318 GRCh38 Chromosome 14, 24240614: 24240615
45 TINF2 NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly) single nucleotide variant Pathogenic rs199422319 GRCh37 Chromosome 14, 24709815: 24709815
46 TINF2 NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly) single nucleotide variant Pathogenic rs199422319 GRCh38 Chromosome 14, 24240609: 24240609
47 TINF2 NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs) deletion Pathogenic rs199422320 GRCh37 Chromosome 14, 24709794: 24709794
48 TINF2 NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs) deletion Pathogenic rs199422320 GRCh38 Chromosome 14, 24240588: 24240588
49 TERT NM_198253.2(TERT): c.1378_1380delCAG (p.Gln460del) deletion Benign rs199422292 GRCh37 Chromosome 5, 1293621: 1293623
50 TERT NM_198253.2(TERT): c.1378_1380delCAG (p.Gln460del) deletion Benign rs199422292 GRCh38 Chromosome 5, 1293506: 1293508

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
11.66 ACD TERT TINF2
2 10.96 RTEL1 TERT
3 10.62 ACD TERT TINF2
4
Show member pathways
10.58 TERT TINF2

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 chromosome GO:0005694 9.58 ACD TERT TINF2
2 nuclear chromosome, telomeric region GO:0000784 9.5 ACD TERT TINF2
3 ruffle GO:0001726 9.43 CARMIL2 PARD6A
4 telomerase holoenzyme complex GO:0005697 9.37 TERC TERT
5 shelterin complex GO:0070187 9.26 ACD TINF2
6 telomerase catalytic core complex GO:0000333 9.16 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 14)
# Name GO ID Score Top Affiliating Genes
1 DNA duplex unwinding GO:0032508 9.54 RTEL1 RTEL1-TNFRSF6B
2 nucleobase-containing compound metabolic process GO:0006139 9.52 RTEL1 RTEL1-TNFRSF6B
3 establishment or maintenance of cell polarity GO:0007163 9.51 CARMIL2 PARD6A
4 DNA biosynthetic process GO:0071897 9.49 TERC TERT
5 telomere capping GO:0016233 9.48 ACD TINF2
6 telomere maintenance via telomerase GO:0007004 9.46 TERC TERT
7 negative regulation of cellular senescence GO:2000773 9.43 TERC TERT
8 negative regulation of telomere maintenance via telomerase GO:0032211 9.4 ACD TINF2
9 regulation of double-strand break repair via homologous recombination GO:0010569 9.37 RTEL1 RTEL1-TNFRSF6B
10 protein localization to chromosome, telomeric region GO:0070198 9.32 ACD TINF2
11 establishment of protein localization to telomere GO:0070200 9.26 ACD TERT
12 mitotic telomere maintenance via semi-conservative replication GO:1902990 9.16 ACD RTEL1
13 telomere assembly GO:0032202 8.96 ACD TINF2
14 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 DNA binding GO:0003677 9.91 ACD RTEL1 RTEL1-TNFRSF6B TERT TINF2
2 protein-containing complex binding GO:0044877 9.65 ACD CARMIL2 TERC
3 iron-sulfur cluster binding GO:0051536 9.49 RTEL1 RTEL1-TNFRSF6B
4 4 iron, 4 sulfur cluster binding GO:0051539 9.46 RTEL1 RTEL1-TNFRSF6B
5 ATP-dependent DNA helicase activity GO:0004003 9.43 RTEL1 RTEL1-TNFRSF6B
6 ATP-dependent helicase activity GO:0008026 9.4 RTEL1 RTEL1-TNFRSF6B
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.37 RTEL1 RTEL1-TNFRSF6B
8 RNA-directed DNA polymerase activity GO:0003964 9.32 TERC TERT
9 telomerase activity GO:0003720 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 DNA polymerase binding GO:0070182 8.8 ACD RTEL1 TERC

Sources for Dyskeratosis Congenita Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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