DKCA
MCID: DYS039
MIFTS: 21

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 52
Dyskeratosis Congenita, Autosomal Dominant 54 71
Autosomal Dominant Dyskeratosis Congenita 52
Dyskeratosis Congenita Scoggins Type 52
Dkca 52

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 dominant 3. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways are DNA Damage/Telomere Stress Induced Senescence and Regulation of Telomerase.

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 33)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 2 34.6 TERT LOC110806263
2 dyskeratosis congenita, autosomal dominant 3 34.1 TINF2 TGM1
3 dyskeratosis congenita, autosomal recessive 5 33.3 RTEL1-TNFRSF6B RTEL1
4 revesz syndrome 32.0 TINF2 TGM1 TERT TERC RTEL1 ACD
5 dyskeratosis congenita, autosomal dominant 1 31.3 TINF2 TERT TERC MECOM LOC110806306 LOC110806263
6 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 30.5 TERC LOC110806306
7 pulmonary fibrosis 29.9 TINF2 TERT TERC RTEL1
8 pulmonary fibrosis, idiopathic 29.8 TINF2 TERT TERC RTEL1
9 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 29.6 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
10 dyskeratosis congenita 26.0 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
11 dyskeratosis congenita, autosomal dominant 6 12.8
12 leukoplakia 10.3
13 pulmonary fibrosis, familial 10.3 TERT TERC
14 inherited bone marrow failure syndromes 10.2 TERT TERC
15 retinal telangiectasia 10.1 TINF2 TERC
16 dowling-degos disease 1 10.1
17 pancytopenia 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 cervical intraepithelial neoplasia 10.1 TERT TERC
24 dyskeratosis congenita, x-linked 10.1 TINF2 TERT TERC
25 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.0 RTEL1-TNFRSF6B RTEL1
26 coats disease 9.9 TINF2 TERC RTEL1
27 diamond-blackfan anemia 9.8 TINF2 TERT TERC
28 dyskeratosis congenita autosomal recessive 9.6 TERT RTEL1-TNFRSF6B RTEL1 ACD
29 hoyeraal hreidarsson syndrome 9.5 TINF2 TERT TERC RTEL1 ACD
30 melanoma, cutaneous malignant 1 9.5 TINF2 TERT TERC RTEL1 ACD
31 aplastic anemia 9.5 TINF2 TERT TERC RTEL1 ACD
32 myelodysplastic syndrome 9.4 TERT TERC RTEL1 MECOM
33 osteoporosis 9.3 TINF2 TERT RTEL1 ACD

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

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

Publications for Dyskeratosis Congenita Autosomal Dominant

Articles related to Dyskeratosis Congenita Autosomal Dominant:

# Title Authors PMID Year
1
Structural analysis and anti-complement activity of polysaccharides from Kjellmaniella crsaaifolia. 61
25786064 2015
2
Phase diagram of a probabilistic cellular automaton with three-site interactions. 61
12636564 2003
3
Quasistationary distributions for the Domany-Kinzel stochastic cellular automaton. 61
12443287 2002

Variations for Dyskeratosis Congenita Autosomal Dominant

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
11.48 TINF2 MECOM ACD
2 10.62 TINF2 TERT 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 nuclear chromosome, telomeric region GO:0000784 9.5 TINF2 TERT ACD
2 telomerase holoenzyme complex GO:0005697 9.37 TERT TERC
3 shelterin complex GO:0070187 9.26 TINF2 ACD
4 telomerase catalytic core complex GO:0000333 9.16 TERT TERC
5 nuclear telomere cap complex GO:0000783 9.13 TINF2 TERT ACD
6 chromosome, telomeric region GO:0000781 9.02 TINF2 TERT TERC RTEL1 ACD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleobase-containing compound metabolic process GO:0006139 9.49 RTEL1-TNFRSF6B RTEL1
2 DNA biosynthetic process GO:0071897 9.48 TERT TERC
3 telomere capping GO:0016233 9.46 TINF2 ACD
4 negative regulation of cellular senescence GO:2000773 9.43 TERT TERC
5 telomere maintenance via telomerase GO:0007004 9.4 TERT TERC
6 regulation of double-strand break repair via homologous recombination GO:0010569 9.37 RTEL1-TNFRSF6B RTEL1
7 negative regulation of telomere maintenance via telomerase GO:0032211 9.32 TINF2 ACD
8 protein localization to chromosome, telomeric region GO:0070198 9.26 TINF2 ACD
9 establishment of protein localization to telomere GO:0070200 9.16 TERT ACD
10 telomere assembly GO:0032202 8.96 TINF2 ACD
11 telomere maintenance GO:0000723 8.92 TERT RTEL1-TNFRSF6B RTEL1 ACD

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 TINF2 TERT RTEL1-TNFRSF6B RTEL1 MECOM ACD
2 4 iron, 4 sulfur cluster binding GO:0051539 9.4 RTEL1-TNFRSF6B RTEL1
3 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.37 RTEL1-TNFRSF6B RTEL1
4 RNA-directed DNA polymerase activity GO:0003964 9.32 TERT TERC
5 telomerase activity GO:0003720 9.26 TERT TERC
6 telomerase RNA reverse transcriptase activity GO:0003721 9.16 TERT TERC
7 telomeric DNA binding GO:0042162 9.13 TINF2 TERT ACD
8 DNA polymerase binding GO:0070182 8.8 TERC RTEL1 ACD

Sources for Dyskeratosis Congenita Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....