DKCA
MCID: DYS039
MIFTS: 29

Dyskeratosis Congenita Autosomal Dominant (DKCA) malady

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

Aliases & Descriptions for Dyskeratosis Congenita Autosomal Dominant:

Name: Dyskeratosis Congenita Autosomal Dominant 50
Dyskeratosis Congenita, Autosomal Dominant 52 69
Autosomal Dominant Dyskeratosis Congenita 50 29
Dyskeratosis Congenita Scoggins Type 50
Dkca 50

Classifications:



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 dominant 3. 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 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 Dominant 2
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita Autosomal Dominant
Dyskeratosis Congenita Autosomal Recessive Rtel1-Related Dyskeratosis Congenita
Acd-Related Dyskeratosis Congenita Dkc1-Related Dyskeratosis Congenita
Nhp2-Related Dyskeratosis Congenita Nop10-Related Dyskeratosis Congenita
Parn-Related Dyskeratosis Congenita Terc-Related Dyskeratosis Congenita
Tert-Related Dyskeratosis Congenita Tinf2-Related Dyskeratosis Congenita
Wrap53-Related Dyskeratosis Congenita

Diseases related to Dyskeratosis Congenita Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
id Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 2 12.4
2 dyskeratosis congenita, autosomal dominant 3 12.4
3 dyskeratosis congenita, autosomal dominant 6 12.3
4 dyskeratosis congenita, autosomal dominant 1 12.1
5 dyskeratosis congenita, autosomal recessive 5 11.8
6 revesz syndrome 11.6
7 rtel1-related dyskeratosis congenita 11.0
8 acd-related dyskeratosis congenita 11.0
9 dyskeratosis congenita 10.4
10 retinitis 10.2
11 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.1 TERC TERT
12 scn9a-related inherited erythromelalgia 10.1 TERC TERT
13 tooth agenesis, selective, 3 10.1 DKC1 TINF2
14 charcot-marie-tooth disease type 2n 10.1 TERC TERT
15 congenital muscular dystrophy type 1a 10.0 DKC1 TERC
16 transitional cell cancer of the renal pelvis and ureter 10.0 DKC1 TERC
17 hypocalciuric hypercalcemia, type i 10.0 TERC TERT TINF2
18 early-onset generalized dystonia 10.0 ACD RTEL1 TERT
19 renal tubular acidosis 10.0 RTEL1 TERC TERT
20 thrombocytopenia, congenital amegakaryocytic 10.0 MPL THPO
21 aortic aneurysm, familial thoracic 6 9.9 RTEL1 TERC TERT
22 mental depression 9.9 MPL THPO
23 severe nonproliferative diabetic retinopathy 9.9 MPL THPO
24 gluten allergy 9.9 MPL THPO
25 immunodeficiency 20 9.9 MPL THPO
26 ocular hyperemia 9.9 MPL THPO
27 granulomatous hepatitis 9.8 MPL THPO
28 myeloproliferative neoplasm 9.8 MPL THPO
29 ectodermal dysplasia, ectrodactyly, and macular dystrophy 9.8 ACD MPL THPO
30 leukemia, acute myeloid 9.8 MPL TERT THPO
31 haemonchiasis 9.7 MPL THPO
32 cranioectodermal dysplasia 1 9.7 MPL TERT THPO
33 blood coagulation disease 9.6 DKC1 MPL TERT THPO
34 skin atrophy 9.1 ACD DKC1 MPL RTEL1 TERC TERT
35 hyperparathyroidism, neonatal 9.1 DKC1 MPL RTEL1 TERC TERT THPO
36 early-onset anterior polar cataract 8.9 ACD DKC1 MPL RTEL1 TERC 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

MGI Mouse Phenotypes related to Dyskeratosis Congenita Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.43 DKC1 MPL RTEL1 TERT TINF2 ACD
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:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita Autosomal Dominant 29

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

Publications for Dyskeratosis Congenita Autosomal Dominant

Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

6 (show all 39)
id 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.844C> A (p.Arg282Ser) single nucleotide variant Pathogenic rs121918545 GRCh37 Chromosome 14, 24709842: 24709842
3 TINF2 NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs121918545 GRCh37 Chromosome 14, 24709842: 24709842
4 TERC NR_001566.1(TERC): n.374_1194del821 deletion Pathogenic GRCh37 Chromosome 3, 169481655: 169482475
5 TERC NR_001566.1(TERC): n.408C> G single nucleotide variant Pathogenic rs199422284 GRCh37 Chromosome 3, 169482441: 169482441
6 TERC NR_001566.1(TERC): n.107_108delGCinsAG indel Pathogenic rs199476393 GRCh37 Chromosome 3, 169482741: 169482742
7 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh37 Chromosome 3, 169482645: 169482645
8 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh37 Chromosome 3, 169482733: 169482733
9 TERT NM_198253.2(TERT): c.2706G> C (p.Lys902Asn) single nucleotide variant Pathogenic rs121918665 GRCh37 Chromosome 5, 1264656: 1264656
10 TERC NR_001566.1(TERC): n.54_57delAACT deletion Pathogenic rs199422263 GRCh37 Chromosome 3, 169482792: 169482795
11 TINF2 NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter) single nucleotide variant Pathogenic rs121918543 GRCh37 Chromosome 14, 24709848: 24709848
12 TINF2 NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala) single nucleotide variant Pathogenic rs199422311 GRCh37 Chromosome 14, 24709839: 24709839
13 TINF2 NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser) single nucleotide variant Pathogenic rs199422311 GRCh37 Chromosome 14, 24709839: 24709839
14 TINF2 NM_001099274.1(TINF2): c.848C> A (p.Pro283His) single nucleotide variant Pathogenic rs199422313 GRCh37 Chromosome 14, 24709838: 24709838
15 TINF2 NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs) duplication Pathogenic rs199422315 GRCh37 Chromosome 14, 24709837: 24709837
16 TINF2 NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala) single nucleotide variant Pathogenic rs199422314 GRCh37 Chromosome 14, 24709836: 24709836
17 TINF2 NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro) single nucleotide variant Pathogenic rs199422316 GRCh37 Chromosome 14, 24709826: 24709826
18 TINF2 NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser) indel Pathogenic rs199422318 GRCh37 Chromosome 14, 24709820: 24709821
19 TINF2 NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly) single nucleotide variant Pathogenic rs199422319 GRCh37 Chromosome 14, 24709815: 24709815
20 TINF2 NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs) deletion Pathogenic rs199422320 GRCh37 Chromosome 14, 24709794: 24709794
21 TERT TERT: c.1710G> Y (p.Lys570Asn) single nucleotide variant Pathogenic
22 TERT NM_198253.2(TERT): c.2029G> T (p.Gly677Cys) single nucleotide variant Pathogenic rs199422296 GRCh37 Chromosome 5, 1279507: 1279507
23 TERT NM_198253.2(TERT): c.2045G> A (p.Gly682Asp) single nucleotide variant Pathogenic rs199422295 GRCh37 Chromosome 5, 1279491: 1279491
24 TERT NM_198253.2(TERT): c.2110C> T (p.Pro704Ser) single nucleotide variant Pathogenic rs199422297 GRCh37 Chromosome 5, 1279426: 1279426
25 TERT NM_198253.2(TERT): c.2162C> G (p.Pro721Arg) single nucleotide variant Pathogenic rs199422299 GRCh37 Chromosome 5, 1278880: 1278880
26 TERT NM_198253.2(TERT): c.2935C> T (p.Arg979Trp) single nucleotide variant Pathogenic rs199422305 GRCh37 Chromosome 5, 1260624: 1260624
27 TERC NR_001566.1(TERC): n.100T> A single nucleotide variant Pathogenic rs199422269 GRCh37 Chromosome 3, 169482749: 169482749
28 TERC NR_001566.1(TERC): n.-240_-239del deletion Pathogenic rs199422255 GRCh37 Chromosome 3, 169483087: 169483088
29 TERC NR_001566.1(TERC): n.143G> A single nucleotide variant Pathogenic rs199422274 GRCh37 Chromosome 3, 169482706: 169482706
30 TERC NR_001566.1(TERC): n.216_229delGGCGGGTCGCCTGC deletion Pathogenic rs199422278 GRCh37 Chromosome 3, 169482620: 169482633
31 TERC NR_001566.1(TERC): n.2G> C single nucleotide variant Pathogenic rs199422257 GRCh37 Chromosome 3, 169482847: 169482847
32 TERC NR_001566.1(TERC): n.35C> T single nucleotide variant Pathogenic rs199422260 GRCh37 Chromosome 3, 169482814: 169482814
33 TERC NR_001566.1(TERC): n.37A> G single nucleotide variant Pathogenic rs199422261 GRCh37 Chromosome 3, 169482812: 169482812
34 TERC NR_001566.1(TERC): n.410C> G single nucleotide variant Pathogenic rs199422286 GRCh37 Chromosome 3, 169482439: 169482439
35 TERC NR_001566.1(TERC): n.48A> G single nucleotide variant Pathogenic rs199422262 GRCh37 Chromosome 3, 169482801: 169482801
36 TERC NR_001566.1(TERC): n.53_87del35 deletion Pathogenic rs199422264 GRCh37 Chromosome 3, 169482762: 169482796
37 TERC NR_001566.1(TERC): n.79delC deletion Pathogenic rs199422266 GRCh37 Chromosome 3, 169482770: 169482770
38 TERC NR_001566.1(TERC): n.96_97delCT deletion Pathogenic rs199422267 GRCh37 Chromosome 3, 169482752: 169482753
39 ACTRT3; TERC NM_032487.4(ACTRT3): c.831_*2687del2976 deletion Pathogenic GRCh37 Chromosome 3, 169482533: 169485508

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:

id 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
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:

id Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.54 ACD TERT TINF2
2 nuclear chromosome, telomeric region GO:0000784 9.43 ACD TERT TINF2
3 telomerase holoenzyme complex GO:0005697 9.32 DKC1 TERT
4 telosome GO:0070187 9.16 ACD TINF2
5 nuclear telomere cap complex GO:0000783 9.13 ACD TERT TINF2
6 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:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.69 DKC1 MPL THPO
2 positive regulation of telomere maintenance via telomerase GO:0032212 9.49 ACD DKC1
3 positive regulation of telomerase activity GO:0051973 9.48 ACD DKC1
4 telomere capping GO:0016233 9.46 ACD TINF2
5 negative regulation of telomere maintenance via telomerase GO:0032211 9.43 ACD TINF2
6 positive regulation of telomere maintenance GO:0032206 9.4 RTEL1 TINF2
7 protein localization to chromosome, telomeric region GO:0070198 9.37 ACD TINF2
8 establishment of protein localization to telomere GO:0070200 9.32 ACD TERT
9 telomere assembly GO:0032202 9.26 ACD TINF2
10 thrombopoietin-mediated signaling pathway GO:0038163 9.16 MPL THPO
11 telomere maintenance GO:0000723 9.13 ACD RTEL1 TERT
12 telomere maintenance via telomerase GO:0007004 8.8 ACD DKC1 TERT

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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