Dyskeratosis Congenita, Autosomal Dominant 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DKCA1 MCID: DYS141 MIFTS: 42	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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ⁷¹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Skin diseases Neuronal diseases Eye diseases Blood diseases Bone diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070014

OMIM® ⁵⁷ 127550

OMIM Phenotypic Series ⁵⁷ PS127550

MedGen ⁴¹ C4551974

UMLS ⁷¹ C1851970

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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 05-Mar-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 is Lung fibrosis. Affiliated tissues include bone marrow, skin and bone, 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.

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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 29)

#	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	29.1	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 and/or bone marrow failure, telomere-related, 3	10.2	RTEL1-TNFRSF6B RTEL1
13	inherited bone marrow failure syndromes	10.1	TERT TERC
14	postinflammatory pulmonary fibrosis	10.1	TERT TERC
15	dyskeratosis congenita autosomal recessive	10.0	TERT RTEL1-TNFRSF6B RTEL1
16	coats disease	10.0	TINF2 TERC RTEL1
17	cervical intraepithelial neoplasia	10.0	TERT TERC
18	shwachman-diamond syndrome 1	9.9	TINF2 TERT TERC
19	pulmonary fibrosis	9.8	TINF2 TERT TERC RTEL1
20	hoyeraal hreidarsson syndrome	9.8	TINF2 TERT TERC RTEL1
21	dyskeratosis congenita, autosomal dominant 3	9.8	TINF2 TGM1
22	melanoma, cutaneous malignant 1	9.8	TINF2 TERT TERC RTEL1
23	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	9.8	TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
24	acute interstitial pneumonia	9.8	TERT TERC RTEL1-TNFRSF6B LOC110806263
25	revesz syndrome	9.5	TINF2 TGM1 TERT TERC RTEL1
26	myelodysplastic syndrome	9.5	TERT TERC RTEL1 MECOM
27	aplastic anemia	9.4	TINF2 TERT TERC RTEL1 LOC110806306 LOC110806263
28	pulmonary fibrosis, idiopathic	9.4	TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
29	dyskeratosis congenita	8.0	TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1

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

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Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 1

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 1:

³¹ (show all 25)

#	Description	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 05-Mar-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 05-Mar-2021)

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Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 1

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

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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

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Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 1

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

⁴⁰

Bone Marrow, Skin, Bone, Liver

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Publications for Dyskeratosis Congenita, Autosomal Dominant 1

Articles related to Dyskeratosis Congenita, Autosomal Dominant 1:

(show all 15)

#	Title	Authors	PMID	Year
1	Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. ⁵⁷ ⁶	Jongmans MC...Kuiper RP	22341970	2012
2	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. ⁶ ⁵⁷	Vulliamy T...Dokal I	11574891	2001
3	Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. ⁵⁷	Walne AJ...Dokal I	23453664	2013
4	Dyskeratosis congenita. ⁵⁷	Bessler M...Mason PJ	20493861	2010
5	Short telomeres are sufficient to cause the degenerative defects associated with aging. ⁵⁷	Armanios M...Greider CW	19944403	2009
6	Engineered telomere degradation models dyskeratosis congenita. ⁵⁷	Hockemeyer D...de Lange T	18550783	2008
7	Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita. ⁵⁷	Goldman FD...Lansdorp PM	18310499	2008
8	Dyskeratosis congenita: a genetic disorder of many faces. ⁵⁷	Kirwan M...Dokal I	18005359	2008
9	Dysfunctional telomeres and dyskeratosis congenita. ⁵⁷	Bessler M...Mason PJ	17650438	2007
10	Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. ⁵⁷	Vulliamy T...Dokal I	15098033	2004
11	Dyskeratosis congenita with linear areas of severe cutaneous involvement. ⁵⁷	Baselga E...Happle R	9489792	1998
12	Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. ⁵⁷	Happle R	8958340	1996
13	Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. ⁵⁷	Kehrer H...Schrezenmeier H	1563086	1992
14	Dyskeratosis congenita. ⁵⁷	Davidson HR...Connor JM	3236366	1988
15	Dyskeratosis congenita: an autosomal dominant disorder. ⁵⁷	Tchou PK...Kohn T	7096665	1982

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Genes for Dyskeratosis Congenita, Autosomal Dominant 1

Genes/enhancers related to Dyskeratosis Congenita, Autosomal Dominant 1 (6 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TERC	Telomerase RNA Component	RNA Gene	1034.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	11574891
1	TERC::GH03J169762	TSS distance: +0.6kb Elite enhancer with elite association with TERC			Curated enhancer-disease association ²⁴ ( 27569544 )	16670076 22323451
2	TERT	Telomerase Reverse Transcriptase	Protein Coding	508.96	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)
3	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	508.88	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)
4	LOC110806306	Telomerase RNA Component (TERC) Promoter	Biological Region	409.21	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
5	ACTRT3	Actin Related Protein T3	Protein Coding	407.49	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
6	TGM1	Transglutaminase 1	Protein Coding	407.49	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
7	INPP4A	Inositol Polyphosphate-4-Phosphatase Type I A	Protein Coding	32.49	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
8	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	9.14	GeneCards inferred via : Variants (show sections)
9	RTEL1-TNFRSF6B	RTEL1-TNFRSF6B Readthrough (NMD Candidate)	RNA Gene	9.14	GeneCards inferred via : Variants (show sections)
10	MECOM	MDS1 And EVI1 Complex Locus	Protein Coding	8.04	GeneCards inferred via : Variants (show sections)
11	LOC110806263	TERT 5' Regulatory Region	Biological Region	7.84	GeneCards inferred via : Variants (show sections)
12	KCNK6	Potassium Two Pore Domain Channel Subfamily K Member 6	Protein Coding	6.16	DISEASES inferred ¹⁵

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Variations for Dyskeratosis Congenita, Autosomal Dominant 1

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

⁶ (show top 50) (show all 203)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TERC	NR_001566.1(TERC):n.374_1194del821	Deletion	Pathogenic	7319	rs1553915517	3:169481651-169482471	3:169763863-169764683
2	TERC	NR_001566.1(TERC):n.408C>G	SNV	Pathogenic	7320	rs199422284	3:169482441-169482441	3:169764653-169764653
3	TINF2	NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)	SNV	Pathogenic	38915	rs199422321	14:24709980-24709980	14:24240774-24240774
4	TINF2	NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	SNV	Pathogenic	38916	rs142777869	14:24709952-24709952	14:24240746-24240746
5	TINF2	NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	SNV	Pathogenic	5624	rs121918543	14:24709848-24709848	14:24240642-24240642
6	TINF2	NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)	SNV	Pathogenic	38917	rs121918543	14:24709848-24709848	14:24240642-24240642
7	TGM1	NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)	SNV	Pathogenic	38918	rs199422322	14:24709845-24709845	14:24240639-24240639
8	TINF2	NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)	SNV	Pathogenic	5626	rs121918545	14:24709842-24709842	14:24240636-24240636
9	TINF2	NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	SNV	Pathogenic	5627	rs121918545	14:24709842-24709842	14:24240636-24240636
10	TINF2	NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala)	SNV	Pathogenic	38919	rs199422311	14:24709839-24709839	14:24240633-24240633
11	TINF2	NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)	SNV	Pathogenic	38920	rs199422311	14:24709839-24709839	14:24240633-24240633
12	TINF2	NM_001099274.3(TINF2):c.848C>A (p.Pro283His)	SNV	Pathogenic	38921	rs199422313	14:24709838-24709838	14:24240632-24240632
13	TINF2	NM_001099274.3(TINF2):c.849dup (p.Thr284fs)	Duplication	Pathogenic	38922	rs199422315	14:24709836-24709837	14:24240630-24240631
14	TINF2	NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)	SNV	Pathogenic	38923	rs199422314	14:24709836-24709836	14:24240630-24240630
15	TINF2	NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)	SNV	Pathogenic	38924	rs199422316	14:24709826-24709826	14:24240620-24240620
16	TINF2	NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser)	Indel	Pathogenic	38926	rs199422318	14:24709820-24709821	14:24240614-24240615
17	TINF2	NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)	SNV	Pathogenic	38927	rs199422319	14:24709815-24709815	14:24240609-24240609
18	TINF2	NM_001099274.3(TINF2):c.892del (p.Gln298fs)	Deletion	Pathogenic	38928	rs199422320	14:24709794-24709794	14:24240588-24240588
19	TERT	TERT:c.1710G>Y (p.Lys570Asn)	SNV	Pathogenic	39103	rs1554041299	5:1282603-1282603	5:1282488-1282488
20	TERT	NM_198253.3(TERT):c.2029G>T (p.Gly677Cys)	SNV	Pathogenic	39105	rs199422296	5:1279507-1279507	5:1279392-1279392
21	TERT	NM_198253.3(TERT):c.2045G>A (p.Gly682Asp)	SNV	Pathogenic	39106	rs199422295	5:1279491-1279491	5:1279376-1279376
22	TERT	NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	SNV	Pathogenic	39108	rs199422297	5:1279426-1279426	5:1279311-1279311
23	TERT	NM_198253.3(TERT):c.2162C>G (p.Pro721Arg)	SNV	Pathogenic	39110	rs199422299	5:1278880-1278880	5:1278765-1278765
24	TERT	NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	SNV	Pathogenic	39111	rs149566858	5:1278865-1278865	5:1278750-1278750
25	TERT	NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)	SNV	Pathogenic	12735	rs121918665	5:1264656-1264656	5:1264541-1264541
26	TERT	NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	SNV	Pathogenic	39118	rs199422305	5:1260624-1260624	5:1260509-1260509
27	TERC	NR_001566.1(TERC):n.100T>A	SNV	Pathogenic	39280	rs199422269	3:169482749-169482749	3:169764961-169764961
28	TERC	NR_001566.1(TERC):n.116C>T	SNV	Pathogenic	7326	rs199422272	3:169482733-169482733	3:169764945-169764945
29	TERC	NR_001566.1(TERC):n.143G>A	SNV	Pathogenic	39282	rs199422274	3:169482706-169482706	3:169764918-169764918
30	TERC	NR_001566.1(TERC):n.204C>G	SNV	Pathogenic	7322	rs199422277	3:169482645-169482645	3:169764857-169764857
31	TERC	NR_001566.1(TERC):n.216_229del	Deletion	Pathogenic	39285	rs199422278	3:169482620-169482633	3:169764832-169764845
32	TERC	NR_001566.1(TERC):n.410C>G	SNV	Pathogenic	39295	rs199422286	3:169482439-169482439	3:169764651-169764651
33	LOC110806306	NR_001566.1(TERC):n.48A>G	SNV	Pathogenic	39297	rs199422262	3:169482801-169482801	3:169765013-169765013
34	LOC110806306	NR_001566.1(TERC):n.53_87del	Deletion	Pathogenic	39299	rs199422264	3:169482762-169482796	3:169764974-169765008
35	TERC	NR_001566.1(TERC):n.79del	Deletion	Pathogenic	39300	rs199422266	3:169482770-169482770	3:169764982-169764982
36	TERC	NR_001566.1(TERC):n.96_97del	Deletion	Pathogenic	39301	rs199422267	3:169482752-169482753	3:169764964-169764965
37	ACTRT3	NM_032487.4(ACTRT3):c.831_*2687del2976	Deletion	Pathogenic	40977		3:169482529-169485504	3:169764741-169767716
38	LOC110806306	NR_001566.1(TERC):n.2G>C	SNV	Pathogenic	39288	rs199422257	3:169482847-169482847	3:169765059-169765059
39	LOC110806306	NR_001566.1(TERC):n.35C>T	SNV	Pathogenic	39292	rs199422260	3:169482814-169482814	3:169765026-169765026
40	TERC	NR_001566.1(TERC):n.107_108delinsAG	Indel	Pathogenic	7321	rs199476393	3:169482741-169482742	3:169764953-169764954
41	LOC110806306	NR_001566.1(TERC):n.54_57del	Deletion	Pathogenic	30265	rs199422263	3:169482792-169482795	3:169765004-169765007
42	TERC	NR_001566.1(TERC):n.-240_-239del	Microsatellite	Pathogenic	39279	rs199422255	3:169483087-169483088	3:169765299-169765300
43	TERC	NR_001566.1(TERC):n.110_113del	Deletion	Pathogenic	7325	rs199422270	3:169482736-169482739	3:169764948-169764951
44	LOC110806306	NR_001566.1(TERC):n.67del	Deletion	Pathogenic	950972		3:169482782-169482782	3:169764994-169764994
45	TERC	NC_000003.12:g.(?_169481351)_(169484227_?)del	Deletion	Likely pathogenic	972905			3:169481351-169484227
46	TERC	NM_004991.4(MECOM):c.38-100973_38-100960del	Deletion	Likely pathogenic	972906		3:169200272-169200285	3:169482484-169482497
47	TERC	NR_001566.1(TERC):n.443C>A	SNV	Likely pathogenic	436977	rs1553915577	3:169482406-169482406	3:169764618-169764618
48	TERC	NR_001566.1(TERC):n.306T>G	SNV	Likely pathogenic	436976	rs1553915591	3:169482543-169482543	3:169764755-169764755
49	TERC	NM_004991.4(MECOM):c.38-101211_38-101210del	Deletion	Likely pathogenic	916672		3:169200522-169200523	3:169482734-169482735
50	TERC	NM_004991.4(MECOM):c.38-101210del	Deletion	Likely pathogenic	916673		3:169200522-169200522	3:169482734-169482734

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Expression for Dyskeratosis Congenita, Autosomal Dominant 1

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

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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	Lung fibrosis ¹	10.42	TERT RTEL1

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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	4 iron, 4 sulfur cluster binding	GO:0051539	9.4	RTEL1-TNFRSF6B RTEL1
2	telomeric DNA binding	GO:0042162	9.37	TINF2 TERT
3	DNA polymerase binding	GO:0070182	9.32	TERC RTEL1
4	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	9.26	RTEL1-TNFRSF6B RTEL1
5	RNA-directed DNA polymerase activity	GO:0003964	9.16	TERT TERC
6	telomerase activity	GO:0003720	8.96	TERT TERC
7	telomerase RNA reverse transcriptase activity	GO:0003721	8.62	TERT TERC

Sources

Sources for Dyskeratosis Congenita, Autosomal Dominant 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Dyskeratosis Congenita, Autosomal Dominant 1 (DKCA1)

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 1

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 1:

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Summaries for Dyskeratosis Congenita, Autosomal Dominant 1

Related Diseases for Dyskeratosis Congenita, Autosomal Dominant 1

Diseases in the Dyskeratosis Congenita family:

Diseases related to Dyskeratosis Congenita, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

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Genes/enhancers related to Dyskeratosis Congenita, Autosomal Dominant 1 (6 elite genes):

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

Expression 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:

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 1

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

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

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