DKCA1
MCID: DYS141
MIFTS: 44

Dyskeratosis Congenita, Autosomal Dominant 1 (DKCA1)

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

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 1

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 1:

Name: Dyskeratosis Congenita, Autosomal Dominant 1 57 29 13 6
Autosomal Dominant Dyskeratosis Congenita 1 12 15
Dyskeratosis Congenita, Scoggins Type 57 12
Dkca1 57 12
Dyskeratosis Congenita, Autosomal Dominant, Type 1 39
Dyskeratosis Congenita, Autosomal Dominant 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
variable penetrance and expressivity
genetic anticipation associated with progressive telomere shortening
skin manifestations may not be present
median age of diagnosis is 28 years
median survival is > 50 years


HPO:

31
dyskeratosis congenita, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Dominant 1

OMIM® : 57 Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by Bessler et al., 2007 and Bessler et al., 2010). Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013). (127550) (Updated 20-May-2021)

MalaCards based summary : Dyskeratosis Congenita, Autosomal Dominant 1, also known as autosomal dominant dyskeratosis congenita 1, is related to dyskeratosis congenita, autosomal recessive 5 and dyskeratosis congenita, autosomal dominant 2. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 1 is TERC (Telomerase RNA Component), and among its related pathways/superpathways are Regulation of Telomerase and Lung fibrosis. Affiliated tissues include bone marrow, bone and eye, and related phenotypes are ataxia and carious teeth

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.

Related Diseases for Dyskeratosis Congenita, Autosomal Dominant 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 5 31.5 RTEL1-TNFRSF6B RTEL1
2 dyskeratosis congenita, autosomal dominant 2 31.3 TERT LOC110806263
3 dyskeratosis congenita, x-linked 31.3 TINF2 TERT TERC
4 dyskeratosis congenita autosomal dominant 28.9 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
5 dyskeratosis congenita, autosomal recessive 1 10.9
6 dyskeratosis congenita, autosomal recessive 2 10.9
7 dyskeratosis congenita, autosomal recessive 3 10.9
8 dyskeratosis congenita, autosomal recessive 6 10.9
9 dyskeratosis congenita, autosomal dominant 6 10.9
10 bone marrow failure syndrome 3 10.9
11 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2 TERC LOC110806306
12 pulmonary fibrosis predisposition 10.2 TERT TERC
13 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.1 RTEL1-TNFRSF6B RTEL1
14 inherited bone marrow failure syndromes 10.1 TERT TERC
15 postinflammatory pulmonary fibrosis 10.1 TERT TERC
16 cervical intraepithelial neoplasia 10.0 TERT TERC
17 dyskeratosis congenita autosomal recessive 10.0 TERT RTEL1-TNFRSF6B RTEL1
18 coats disease 10.0 TINF2 TERC RTEL1
19 shwachman-diamond syndrome 1 9.9 TINF2 TERT TERC
20 dyskeratosis congenita, autosomal dominant 3 9.9 TINF2 TGM1
21 melanoma, cutaneous malignant 1 9.8 TINF2 TERT TERC RTEL1
22 pancytopenia 9.8 TINF2 TERT MECOM
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 9.7 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
24 diamond-blackfan anemia 9.6 TINF2 TERT TERC
25 hoyeraal hreidarsson syndrome 9.6 TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1
26 myelodysplastic syndrome 9.6 TERT TERC RTEL1 MECOM
27 leukemia, acute myeloid 9.5 TERT RTEL1-TNFRSF6B RTEL1 MECOM
28 revesz syndrome 9.5 TINF2 TGM1 TERT TERC RTEL1
29 aplastic anemia 9.3 TINF2 TERT TERC RTEL1 LOC110806306 LOC110806263
30 pulmonary fibrosis 9.3 TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
31 pulmonary fibrosis, idiopathic 9.3 TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
32 dyskeratosis congenita 7.9 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1

Graphical network of the top 20 diseases related to Dyskeratosis Congenita, Autosomal Dominant 1:



Diseases related to Dyskeratosis Congenita, Autosomal Dominant 1

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 1

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 1:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 carious teeth 31 HP:0000670
3 anemia 31 HP:0001903
4 osteoporosis 31 HP:0000939
5 specific learning disability 31 HP:0001328
6 alopecia 31 HP:0001596
7 cirrhosis 31 HP:0001394
8 thrombocytopenia 31 HP:0001873
9 pulmonary fibrosis 31 HP:0002206
10 myelodysplasia 31 HP:0002863
11 lymphopenia 31 HP:0001888
12 premature graying of hair 31 HP:0002216
13 cerebellar hypoplasia 31 HP:0001321
14 sparse hair 31 HP:0008070
15 squamous cell carcinoma of the skin 31 HP:0006739
16 ridged nail 31 HP:0001807
17 oral leukoplakia 31 HP:0002745
18 bone marrow hypocellularity 31 HP:0005528
19 nail dystrophy 31 HP:0008404
20 nail pits 31 HP:0001803
21 premature loss of teeth 31 HP:0006480
22 dermal atrophy 31 HP:0004334
23 reticular hyperpigmentation 31 HP:0007588
24 interstitial pneumonitis 31 HP:0006515
25 aplastic anemia 31 HP:0001915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
anemia
thrombocytopenia
lymphopenia
pancytopenia
aplastic anemia
more
Respiratory Lung:
pulmonary fibrosis
interstitial pneumonitis

Skin Nails Hair Nails:
nail dystrophy
nail pitting
nail ridging

Head And Neck Mouth:
leukoplakia

Skin Nails Hair Skin:
reticulate hyperpigmentation
skin atrophy

Skin Nails Hair Hair:
alopecia
sparse hair
hair loss
premature graying

Neoplasia:
squamous cell carcinoma of the skin

Head And Neck Teeth:
early tooth loss
dental caries

Abdomen Liver:
liver cirrhosis

Laboratory Abnormalities:
shortened telomeres

Clinical features from OMIM®:

127550 (Updated 20-May-2021)

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Dominant 1

Genetic Tests for Dyskeratosis Congenita, Autosomal Dominant 1

Genetic tests related to Dyskeratosis Congenita, Autosomal Dominant 1:

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

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 1

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 1:

40
Bone Marrow, Bone, Eye, Skin, Liver, Myeloid, Lung

Publications for Dyskeratosis Congenita, Autosomal Dominant 1

Articles related to Dyskeratosis Congenita, Autosomal Dominant 1:

(show all 29)
# Title Authors PMID Year
1
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. 6 57
22341970 2012
2
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. 6 57
15098033 2004
3
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 6 57
11574891 2001
4
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 6
29483670 2018
5
An Activity Switch in Human Telomerase Based on RNA Conformation and Shaped by TCAB1. 6
29804836 2018
6
Cryo-EM structure of substrate-bound human telomerase holoenzyme. 6
29695869 2018
7
Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. 6
25612863 2015
8
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 57
23453664 2013
9
Architecture of human telomerase RNA. 6
21844345 2011
10
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. 6
21931702 2011
11
Dyskeratosis congenita. 57
20493861 2010
12
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. 6
20022961 2010
13
Short telomeres are sufficient to cause the degenerative defects associated with aging. 57
19944403 2009
14
A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. 6
19179534 2009
15
Engineered telomere degradation models dyskeratosis congenita. 57
18550783 2008
16
Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita. 57
18310499 2008
17
Dyskeratosis congenita: a genetic disorder of many faces. 57
18005359 2008
18
Dysfunctional telomeres and dyskeratosis congenita. 57
17650438 2007
19
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. 6
17640862 2007
20
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. 6
16332973 2006
21
Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. 6
15886322 2005
22
Functional analysis of the pseudoknot structure in human telomerase RNA. 6
15849264 2005
23
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. 6
15319288 2004
24
Telomerase RNA structure and function: implications for dyskeratosis congenita. 6
15082312 2004
25
Dyskeratosis congenita with linear areas of severe cutaneous involvement. 57
9489792 1998
26
Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. 57
8958340 1996
27
Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. 57
1563086 1992
28
Dyskeratosis congenita. 57
3236366 1988
29
Dyskeratosis congenita: an autosomal dominant disorder. 57
7096665 1982

Variations for Dyskeratosis Congenita, Autosomal Dominant 1

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 1:

6 (show top 50) (show all 243)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERC NR_001566.1(TERC):n.374_1194del821 Deletion Pathogenic 7319 rs1553915517 GRCh37: 3:169481651-169482471
GRCh38: 3:169763863-169764683
2 TERC NR_001566.1(TERC):n.408C>G SNV Pathogenic 7320 rs199422284 GRCh37: 3:169482441-169482441
GRCh38: 3:169764653-169764653
3 TINF2 NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) SNV Pathogenic 38915 rs199422321 GRCh37: 14:24709980-24709980
GRCh38: 14:24240774-24240774
4 TINF2 NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) SNV Pathogenic 38916 rs142777869 GRCh37: 14:24709952-24709952
GRCh38: 14:24240746-24240746
5 TINF2 NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) SNV Pathogenic 5624 rs121918543 GRCh37: 14:24709848-24709848
GRCh38: 14:24240642-24240642
6 TINF2 NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter) SNV Pathogenic 38917 rs121918543 GRCh37: 14:24709848-24709848
GRCh38: 14:24240642-24240642
7 TGM1 , TINF2 NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) SNV Pathogenic 38918 rs199422322 GRCh37: 14:24709845-24709845
GRCh38: 14:24240639-24240639
8 TINF2 NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) SNV Pathogenic 5626 rs121918545 GRCh37: 14:24709842-24709842
GRCh38: 14:24240636-24240636
9 TINF2 NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) SNV Pathogenic 5627 rs121918545 GRCh37: 14:24709842-24709842
GRCh38: 14:24240636-24240636
10 TINF2 NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala) SNV Pathogenic 38919 rs199422311 GRCh37: 14:24709839-24709839
GRCh38: 14:24240633-24240633
11 TINF2 NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) SNV Pathogenic 38920 rs199422311 GRCh37: 14:24709839-24709839
GRCh38: 14:24240633-24240633
12 TINF2 NM_001099274.3(TINF2):c.848C>A (p.Pro283His) SNV Pathogenic 38921 rs199422313 GRCh37: 14:24709838-24709838
GRCh38: 14:24240632-24240632
13 TINF2 NM_001099274.3(TINF2):c.849dup (p.Thr284fs) Duplication Pathogenic 38922 rs199422315 GRCh37: 14:24709836-24709837
GRCh38: 14:24240630-24240631
14 TINF2 NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) SNV Pathogenic 38923 rs199422314 GRCh37: 14:24709836-24709836
GRCh38: 14:24240630-24240630
15 TINF2 NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) SNV Pathogenic 38924 rs199422316 GRCh37: 14:24709826-24709826
GRCh38: 14:24240620-24240620
16 TINF2 NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser) Indel Pathogenic 38926 rs199422318 GRCh37: 14:24709820-24709821
GRCh38: 14:24240614-24240615
17 TINF2 NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly) SNV Pathogenic 38927 rs199422319 GRCh37: 14:24709815-24709815
GRCh38: 14:24240609-24240609
18 TINF2 NM_001099274.3(TINF2):c.892del (p.Gln298fs) Deletion Pathogenic 38928 rs199422320 GRCh37: 14:24709794-24709794
GRCh38: 14:24240588-24240588
19 TERT TERT:c.1710G>Y (p.Lys570Asn) SNV Pathogenic 39103 rs1554041299 GRCh37: 5:1282603-1282603
GRCh38: 5:1282488-1282488
20 TERT NM_198253.3(TERT):c.2029G>T (p.Gly677Cys) SNV Pathogenic 39105 rs199422296 GRCh37: 5:1279507-1279507
GRCh38: 5:1279392-1279392
21 TERT NM_198253.3(TERT):c.2045G>A (p.Gly682Asp) SNV Pathogenic 39106 rs199422295 GRCh37: 5:1279491-1279491
GRCh38: 5:1279376-1279376
22 TERT NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) SNV Pathogenic 39110 rs199422299 GRCh37: 5:1278880-1278880
GRCh38: 5:1278765-1278765
23 TERT NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) SNV Pathogenic 12735 rs121918665 GRCh37: 5:1264656-1264656
GRCh38: 5:1264541-1264541
24 TERC NR_001566.1(TERC):n.143G>A SNV Pathogenic 39282 rs199422274 GRCh37: 3:169482706-169482706
GRCh38: 3:169764918-169764918
25 TERC NR_001566.1(TERC):n.204C>G SNV Pathogenic 7322 rs199422277 GRCh37: 3:169482645-169482645
GRCh38: 3:169764857-169764857
26 TERC NR_001566.1(TERC):n.216_229del Deletion Pathogenic 39285 rs199422278 GRCh37: 3:169482620-169482633
GRCh38: 3:169764832-169764845
27 TERC NR_001566.1(TERC):n.410C>G SNV Pathogenic 39295 rs199422286 GRCh37: 3:169482439-169482439
GRCh38: 3:169764651-169764651
28 LOC110806306 , TERC NR_001566.1(TERC):n.48A>G SNV Pathogenic 39297 rs199422262 GRCh37: 3:169482801-169482801
GRCh38: 3:169765013-169765013
29 TERC and overlap with 1 gene(s) NR_001566.1(TERC):n.53_87del Deletion Pathogenic 39299 rs199422264 GRCh37: 3:169482762-169482796
GRCh38: 3:169764974-169765008
30 TERC NR_001566.1(TERC):n.79del Deletion Pathogenic 39300 rs199422266 GRCh37: 3:169482770-169482770
GRCh38: 3:169764982-169764982
31 TERC NR_001566.1(TERC):n.96_97del Deletion Pathogenic 39301 rs199422267 GRCh37: 3:169482752-169482753
GRCh38: 3:169764964-169764965
32 overlap with 3 genes NM_032487.4(ACTRT3):c.831_*2687del2976 Deletion Pathogenic 40977 GRCh37: 3:169482529-169485504
GRCh38: 3:169764741-169767716
33 TERC NR_001566.1(TERC):n.100T>A SNV Pathogenic 39280 rs199422269 GRCh37: 3:169482749-169482749
GRCh38: 3:169764961-169764961
34 LOC110806306 , TERC NR_001566.1(TERC):n.2G>C SNV Pathogenic 39288 rs199422257 GRCh37: 3:169482847-169482847
GRCh38: 3:169765059-169765059
35 LOC110806306 , TERC NR_001566.1(TERC):n.67del Deletion Pathogenic 950972 GRCh37: 3:169482782-169482782
GRCh38: 3:169764994-169764994
36 LOC110806306 , TERC NR_001566.1(TERC):n.54_57del Deletion Pathogenic 30265 rs199422263 GRCh37: 3:169482792-169482795
GRCh38: 3:169765004-169765007
37 TERC NR_001566.1(TERC):n.110_113del Deletion Pathogenic 7325 rs199422270 GRCh37: 3:169482736-169482739
GRCh38: 3:169764948-169764951
38 TERT NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) SNV Pathogenic 39108 rs199422297 GRCh37: 5:1279426-1279426
GRCh38: 5:1279311-1279311
39 TERT NM_198253.3(TERT):c.2177C>T (p.Thr726Met) SNV Pathogenic 39111 rs149566858 GRCh37: 5:1278865-1278865
GRCh38: 5:1278750-1278750
40 TERT NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) SNV Pathogenic 39118 rs199422305 GRCh37: 5:1260624-1260624
GRCh38: 5:1260509-1260509
41 TERC NR_001566.1(TERC):n.107_108delinsAG Indel Pathogenic 7321 rs199476393 GRCh37: 3:169482741-169482742
GRCh38: 3:169764953-169764954
42 TERC , LOC110806306 NR_001566.1(TERC):n.-240_-239del Microsatellite Pathogenic 39279 rs199422255 GRCh37: 3:169483087-169483088
GRCh38: 3:169765299-169765300
43 TERC NR_001566.1(TERC):n.407_408delinsAA Indel Likely pathogenic 446379 rs1553915580 GRCh37: 3:169482441-169482442
GRCh38: 3:169764653-169764654
44 TERC , MECOM NC_000003.12:g.(?_169481351)_(169484227_?)del Deletion Likely pathogenic 972905 GRCh37:
GRCh38: 3:169481351-169484227
45 TERC , MECOM NM_004991.4(MECOM):c.38-100973_38-100960del Deletion Likely pathogenic 972906 GRCh37: 3:169200272-169200285
GRCh38: 3:169482484-169482497
46 TERC , MECOM NM_004991.4(MECOM):c.38-101211_38-101210del Deletion Likely pathogenic 916672 GRCh37: 3:169200522-169200523
GRCh38: 3:169482734-169482735
47 TERC , MECOM NM_004991.4(MECOM):c.38-101210del Deletion Likely pathogenic 916673 GRCh37: 3:169200522-169200522
GRCh38: 3:169482734-169482734
48 TERC NR_001566.1(TERC):n.443C>A SNV Likely pathogenic 436977 rs1553915577 GRCh37: 3:169482406-169482406
GRCh38: 3:169764618-169764618
49 TERC NR_001566.1(TERC):n.306T>G SNV Likely pathogenic 436976 rs1553915591 GRCh37: 3:169482543-169482543
GRCh38: 3:169764755-169764755
50 INPP4A NM_001134225.2(INPP4A):c.36C>T (p.Ala12=) SNV Likely pathogenic 623236 rs1306444586 GRCh37: 2:99136547-99136547
GRCh38: 2:98520084-98520084

Expression for Dyskeratosis Congenita, Autosomal Dominant 1

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Dominant 1.

Pathways for Dyskeratosis Congenita, Autosomal Dominant 1

Pathways related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 TINF2 TERT
2 10.42 TERT RTEL1

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 1

Cellular components related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomerase holoenzyme complex GO:0005697 9.26 TERT TERC
2 chromosome, telomeric region GO:0000781 9.26 TINF2 TERT TERC RTEL1
3 nuclear telomere cap complex GO:0000783 9.16 TINF2 TERT
4 telomerase catalytic core complex GO:0000333 8.62 TERT TERC

Biological processes related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleobase-containing compound metabolic process GO:0006139 9.37 RTEL1-TNFRSF6B RTEL1
2 DNA biosynthetic process GO:0071897 9.32 TERT TERC
3 negative regulation of cellular senescence GO:2000773 9.26 TERT TERC
4 telomere maintenance via telomerase GO:0007004 9.16 TERT TERC
5 regulation of double-strand break repair via homologous recombination GO:0010569 8.96 RTEL1-TNFRSF6B RTEL1
6 telomere maintenance GO:0000723 8.8 TERT RTEL1-TNFRSF6B RTEL1

Molecular functions related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 9.46 RTEL1-TNFRSF6B RTEL1
2 DNA helicase activity GO:0003678 9.43 RTEL1-TNFRSF6B RTEL1
3 4 iron, 4 sulfur cluster binding GO:0051539 9.4 RTEL1-TNFRSF6B RTEL1
4 telomeric DNA binding GO:0042162 9.37 TINF2 TERT
5 DNA polymerase binding GO:0070182 9.32 TERC RTEL1
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.26 RTEL1-TNFRSF6B RTEL1
7 RNA-directed DNA polymerase activity GO:0003964 9.16 TERT TERC
8 telomerase activity GO:0003720 8.96 TERT TERC
9 telomerase RNA reverse transcriptase activity GO:0003721 8.62 TERT TERC

Sources for Dyskeratosis Congenita, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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