MCID: DYS039
MIFTS: 30

Dyskeratosis Congenita Autosomal Dominant

Categories: Rare diseases, Skin diseases, Blood diseases, Fetal diseases, Eye diseases, Neuronal diseases, Immune diseases, Genetic diseases

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Dominant:

Name: Dyskeratosis Congenita Autosomal Dominant 49 28
Dyskeratosis Congenita, Autosomal Dominant 51 69
Autosomal Dominant Dyskeratosis Congenita 49
Dyskeratosis Congenita Scoggins Type 49
Dkca 49

Classifications:



External Ids:

UMLS 69 C1851970

Summaries for Dyskeratosis Congenita Autosomal Dominant

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Dyskeratosis congenita.

MalaCards based summary : Dyskeratosis Congenita Autosomal Dominant, also known as dyskeratosis congenita, autosomal dominant, is related to revesz syndrome and dyskeratosis congenita, autosomal dominant 1. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways are Cell Cycle, Mitotic and Chromosome Maintenance. Related phenotypes are cellular and 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 19)
# Related Disease Score Top Affiliating Genes
1 revesz syndrome 32.9 DKC1 TINF2
2 dyskeratosis congenita, autosomal dominant 1 32.7 TERC TERT TINF2
3 dyskeratosis congenita 28.1 ACD DKC1 RTEL1 TERC TERT TINF2
4 dyskeratosis congenita, autosomal dominant 2 12.5
5 dyskeratosis congenita, autosomal dominant 3 12.5
6 dyskeratosis congenita, autosomal dominant 6 12.5
7 dyskeratosis congenita, autosomal recessive 5 11.9
8 retinitis 10.2
9 pancytopenia 9.8 DKC1 TERT
10 inherited bone marrow failure syndromes 9.7 TERC TERT
11 congenital intrauterine infection-like syndrome 9.7 DKC1 TERC
12 torch syndrome 9.7 DKC1 TERC
13 cervical intraepithelial neoplasia 9.6 TERC TERT
14 melanoma, cutaneous malignant 1 9.6 ACD TERT
15 dyskeratosis congenita autosomal recessive 9.6 ACD RTEL1 TERT
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.5 TERC TERT TINF2
17 pulmonary fibrosis, idiopathic 9.3 RTEL1 TERC TERT
18 pulmonary fibrosis 9.1 RTEL1 TERC TERT TINF2
19 aplastic anemia 8.8 DKC1 RTEL1 TERC TERT TINF2

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.35 ACD DKC1 RTEL1 TERT TINF2
2 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 28 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
Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. ( 15238429 )
2005
6
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. ( 16247010 )
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 all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 TERT NM_198253.2(TERT): c.2706G> C (p.Lys902Asn) single nucleotide variant Pathogenic rs121918665 GRCh37 Chromosome 5, 1264656: 1264656
2 TERC NR_001566.1(TERC): n.54_57delAACT deletion Pathogenic rs199422263 GRCh37 Chromosome 3, 169482792: 169482795
3 TINF2 NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter) single nucleotide variant Pathogenic rs121918543 GRCh37 Chromosome 14, 24709848: 24709848
4 TINF2 NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala) single nucleotide variant Pathogenic rs199422311 GRCh37 Chromosome 14, 24709839: 24709839
5 TINF2 NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser) single nucleotide variant Pathogenic rs199422311 GRCh37 Chromosome 14, 24709839: 24709839
6 TINF2 NM_001099274.1(TINF2): c.848C> A (p.Pro283His) single nucleotide variant Pathogenic rs199422313 GRCh37 Chromosome 14, 24709838: 24709838
7 TINF2 NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs) duplication Pathogenic rs199422315 GRCh37 Chromosome 14, 24709837: 24709837
8 TINF2 NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala) single nucleotide variant Pathogenic rs199422314 GRCh37 Chromosome 14, 24709836: 24709836
9 TINF2 NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro) single nucleotide variant Pathogenic rs199422316 GRCh37 Chromosome 14, 24709826: 24709826
10 TINF2 NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser) indel Pathogenic rs199422318 GRCh37 Chromosome 14, 24709820: 24709821
11 TINF2 NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly) single nucleotide variant Pathogenic rs199422319 GRCh37 Chromosome 14, 24709815: 24709815
12 TINF2 NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs) deletion Pathogenic rs199422320 GRCh37 Chromosome 14, 24709794: 24709794
13 TERT TERT: c.1710G> Y (p.Lys570Asn) single nucleotide variant Pathogenic
14 TERT NM_198253.2(TERT): c.2029G> T (p.Gly677Cys) single nucleotide variant Pathogenic rs199422296 GRCh37 Chromosome 5, 1279507: 1279507
15 TERT NM_198253.2(TERT): c.2045G> A (p.Gly682Asp) single nucleotide variant Pathogenic rs199422295 GRCh37 Chromosome 5, 1279491: 1279491
16 TERT NM_198253.2(TERT): c.2162C> G (p.Pro721Arg) single nucleotide variant Pathogenic rs199422299 GRCh37 Chromosome 5, 1278880: 1278880
17 TERT NM_198253.2(TERT): c.2935C> T (p.Arg979Trp) single nucleotide variant Pathogenic rs199422305 GRCh37 Chromosome 5, 1260624: 1260624
18 TERC NR_001566.1(TERC): n.-240_-239del deletion Pathogenic rs199422255 GRCh37 Chromosome 3, 169483087: 169483088
19 TERC NR_001566.1(TERC): n.100T> A single nucleotide variant Pathogenic rs199422269 GRCh37 Chromosome 3, 169482749: 169482749
20 TERC NR_001566.1(TERC): n.143G> A single nucleotide variant Pathogenic rs199422274 GRCh37 Chromosome 3, 169482706: 169482706
21 TERC NR_001566.1(TERC): n.216_229delGGCGGGTCGCCTGC deletion Pathogenic rs199422278 GRCh37 Chromosome 3, 169482620: 169482633
22 TERC NR_001566.1(TERC): n.2G> C single nucleotide variant Pathogenic rs199422257 GRCh37 Chromosome 3, 169482847: 169482847
23 TERC NR_001566.1(TERC): n.35C> T single nucleotide variant Pathogenic rs199422260 GRCh37 Chromosome 3, 169482814: 169482814
24 TERC NR_001566.1(TERC): n.410C> G single nucleotide variant Pathogenic rs199422286 GRCh37 Chromosome 3, 169482439: 169482439
25 TERC NR_001566.1(TERC): n.48A> G single nucleotide variant Pathogenic rs199422262 GRCh37 Chromosome 3, 169482801: 169482801
26 TERC NR_001566.1(TERC): n.53_87del35 deletion Pathogenic rs199422264 GRCh37 Chromosome 3, 169482762: 169482796
27 TERC NR_001566.1(TERC): n.79delC deletion Pathogenic rs199422266 GRCh37 Chromosome 3, 169482770: 169482770
28 TERC NR_001566.1(TERC): n.96_97delCT deletion Pathogenic rs199422267 GRCh37 Chromosome 3, 169482752: 169482753
29 ACTRT3; TERC NM_032487.4(ACTRT3): c.831_*2687del2976 deletion Pathogenic GRCh37 Chromosome 3, 169482533: 169485508
30 TINF2 NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu) single nucleotide variant Pathogenic rs121918543 GRCh37 Chromosome 14, 24709848: 24709848
31 TINF2 NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser) single nucleotide variant Pathogenic rs121918545 GRCh37 Chromosome 14, 24709842: 24709842
32 TINF2 NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs121918545 GRCh37 Chromosome 14, 24709842: 24709842
33 TERC NR_001566.1(TERC): n.374_1194del821 deletion Pathogenic GRCh37 Chromosome 3, 169481655: 169482475
34 TERC NR_001566.1(TERC): n.408C> G single nucleotide variant Pathogenic rs199422284 GRCh37 Chromosome 3, 169482441: 169482441
35 TERC NR_001566.1(TERC): n.107_108delGCinsAG indel Pathogenic rs199476393 GRCh37 Chromosome 3, 169482741: 169482742
36 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh37 Chromosome 3, 169482645: 169482645
37 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh37 Chromosome 3, 169482733: 169482733

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
12.72 ACD DKC1 TERT TINF2
2
Show member pathways
11.79 ACD DKC1 TERT TINF2
3
Show member pathways
11.35 TERT TINF2
4 10.96 RTEL1 TERT
5 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 nucleoplasm GO:0005654 9.8 ACD DKC1 RTEL1 TERT TINF2
2 chromosome GO:0005694 9.54 ACD TERT TINF2
3 nuclear chromosome, telomeric region GO:0000784 9.43 ACD TERT TINF2
4 telomerase holoenzyme complex GO:0005697 9.32 DKC1 TERT
5 shelterin complex GO:0070187 9.16 ACD TINF2
6 nuclear telomere cap complex GO:0000783 9.13 ACD TERT TINF2
7 chromosome, telomeric region GO:0000781 8.92 ACD RTEL1 TERT TINF2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of telomere maintenance via telomerase GO:0032212 9.46 ACD DKC1
2 positive regulation of telomerase activity GO:0051973 9.43 ACD DKC1
3 telomere capping GO:0016233 9.4 ACD TINF2
4 negative regulation of telomere maintenance via telomerase GO:0032211 9.37 ACD TINF2
5 telomere maintenance via telomerase GO:0007004 9.32 DKC1 TERT
6 protein localization to chromosome, telomeric region GO:0070198 9.26 ACD TINF2
7 establishment of protein localization to telomere GO:0070200 9.16 ACD TERT
8 telomere assembly GO:0032202 8.96 ACD TINF2
9 telomere maintenance GO:0000723 8.8 ACD RTEL1 TERT

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

# Name GO ID Score Top Affiliating Genes
1 telomerase RNA binding GO:0070034 9.16 DKC1 TERT
2 telomerase activity GO:0003720 8.96 DKC1 TERT
3 telomeric DNA binding GO:0042162 8.8 ACD TERT TINF2

Sources for Dyskeratosis Congenita Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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