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

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:



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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 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.

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:



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 8.92 ACD DKC1 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

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

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 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

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 ACD DKC1 TERT TINF2
2 10.96 RTEL1 TERT
3 10.74 ACD DKC1 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 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

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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