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

DKCA1 MCID: DYS141 MIFTS: 44	Dyskeratosis Congenita, Autosomal Dominant 1 (DKCA1) Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver 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 ⁵⁶ ²⁹ ¹³ ⁶

Autosomal Dominant Dyskeratosis Congenita 1 ¹² ¹⁵

Dyskeratosis Congenita, Scoggins Type ⁵⁶ ¹²

Dkca1 ⁵⁶ ¹²

Dyskeratosis Congenita, Autosomal Dominant, Type 1 ³⁹

Dyskeratosis Congenita, Autosomal Dominant ⁷¹

Characteristics:

OMIM:

⁵⁶

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
Anatomical: Skin diseases Bone diseases Immune diseases Neuronal diseases Eye diseases Blood diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070014

OMIM ⁵⁶ 127550

OMIM Phenotypic Series ⁵⁶ PS127550

MedGen ⁴¹ C4551974

UMLS ⁷¹ C1851970

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Summaries for Dyskeratosis Congenita, Autosomal Dominant 1

OMIM : ⁵⁶ 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)

MalaCards based summary : Dyskeratosis Congenita, Autosomal Dominant 1, also known as autosomal dominant dyskeratosis congenita 1, is related to dyskeratosis congenita, autosomal dominant 2 and dyskeratosis congenita, x-linked. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 1 is TERC (Telomerase RNA Component), and among its related pathways/superpathways are Chromosome Maintenance and Immune response IFN alpha/beta signaling pathway. Affiliated tissues include skin, bone marrow and bone, and related phenotypes are carious teeth and ataxia

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 31)

#	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita, autosomal dominant 2	31.8	TERT LOC110806263
2	dyskeratosis congenita, x-linked	31.0	TINF2 TERT TERC DKC1
3	dyskeratosis congenita autosomal dominant	29.2	TINF2 TERT TERC MECOM LOC110806306 LOC110806263
4	dyskeratosis congenita, autosomal recessive 1	11.2
5	dyskeratosis congenita, autosomal recessive 2	11.2
6	dyskeratosis congenita, autosomal recessive 3	11.2
7	dyskeratosis congenita, autosomal recessive 5	11.2
8	dyskeratosis congenita, autosomal recessive 6	11.2
9	dyskeratosis congenita, autosomal dominant 6	11.2
10	bone marrow failure syndrome 3	11.2
11	pulmonary fibrosis, familial	10.2	TERT TERC
12	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	10.2	TERC LOC110806306
13	inherited bone marrow failure syndromes	10.1	TERT TERC
14	congenital intrauterine infection-like syndrome	10.1	TERC DKC1
15	torch syndrome	10.0	TERC DKC1
16	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	10.0	TERT LOC110806263
17	chronic congestive splenomegaly	9.9	TERT DKC1
18	pulmonary fibrosis	9.9	TINF2 TERT TERC
19	cervical intraepithelial neoplasia	9.9	TERT TERC
20	retinal telangiectasia	9.8	TINF2 TERC DKC1
21	coats disease	9.8	TINF2 TERC DKC1
22	shwachman-diamond syndrome 1	9.7	TINF2 TERC DKC1
23	lymphoid interstitial pneumonia	9.7	TERT TERC
24	melanoma, cutaneous malignant 1	9.6	TINF2 TERT TERC
25	hoyeraal hreidarsson syndrome	9.5	TINF2 TERT TERC DKC1
26	revesz syndrome	9.5	TINF2 TERT TERC DKC1
27	pulmonary fibrosis, idiopathic	9.5	TINF2 TERT TERC DKC1
28	pancytopenia	9.5	TERT MECOM DKC1
29	diamond-blackfan anemia	9.4	TINF2 TERT TERC DKC1
30	aplastic anemia	9.4	TINF2 TERT TERC DKC1
31	dyskeratosis congenita	7.4	TINF2 TERT TERC MECOM LOC110806306 LOC110806263

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	carious teeth ³¹	HP:0000670
2	ataxia ³¹	HP:0001251
3	anemia ³¹	HP:0001903
4	cirrhosis ³¹	HP:0001394
5	pulmonary fibrosis ³¹	HP:0002206
6	osteoporosis ³¹	HP:0000939
7	specific learning disability ³¹	HP:0001328
8	alopecia ³¹	HP:0001596
9	thrombocytopenia ³¹	HP:0001873
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:

⁵⁶

Hematology:
anemia
thrombocytopenia
lymphopenia
pancytopenia
aplastic anemia
more

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

Skin Nails Hair Nails:
nail dystrophy
nail pitting
nail ridging

Head And Neck Mouth:
leukoplakia

Skin Nails Hair Skin:
reticulate hyperpigmentation
skin atrophy

Respiratory Lung:
pulmonary fibrosis
interstitial pneumonitis

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

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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

Skin, Bone Marrow, Bone, Liver

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Publications for Dyskeratosis Congenita, Autosomal Dominant 1

Articles related to Dyskeratosis Congenita, Autosomal Dominant 1:

(show all 30)

#	Title	Authors	PMID	Year
1	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. ⁵⁴ ⁵⁶ ⁶	Vulliamy T...Dokal I	11574891	2001
2	Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. ⁵⁶ ⁶	Jongmans MC...Kuiper RP	22341970	2012
3	Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. ⁵⁶	Walne AJ...Dokal I	23453664	2013
4	Clinical utility gene card for: dyskeratosis congenita. ⁶	Dokal I...Bessler M	21610750	2011
5	Dyskeratosis congenita. ⁵⁶	Bessler M...Mason PJ	20493861	2010
6	Short telomeres are sufficient to cause the degenerative defects associated with aging. ⁵⁶	Armanios M...Greider CW	19944403	2009
7	Dyskeratosis Congenita ⁶	Savage SA	20301779	2009
8	Engineered telomere degradation models dyskeratosis congenita. ⁵⁶	Hockemeyer D...de Lange T	18550783	2008
9	Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita. ⁵⁶	Goldman FD...Lansdorp PM	18310499	2008
10	Dyskeratosis congenita: a genetic disorder of many faces. ⁵⁶	Kirwan M...Dokal I	18005359	2008
11	Dysfunctional telomeres and dyskeratosis congenita. ⁵⁶	Bessler M...Mason PJ	17650438	2007
12	Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. ⁵⁶	Vulliamy T...Dokal I	15098033	2004
13	Dyskeratosis congenita with linear areas of severe cutaneous involvement. ⁵⁶	Baselga E...Happle R	9489792	1998
14	Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. ⁵⁶	Happle R	8958340	1996
15	Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. ⁵⁶	Kehrer H...Schrezenmeier H	1563086	1992
16	Dyskeratosis congenita. ⁵⁶	Davidson HR...Connor JM	3236366	1988
17	Dyskeratosis congenita: an autosomal dominant disorder. ⁵⁶	Tchou PK...Kohn T	7096665	1982
18	Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. ⁵⁴	Basel-Vanagaite L...Vulliamy T	18460650	2008
19	Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. ⁵⁴	Du HY...Bessler M	18042801	2008
20	Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. ⁵⁴	Du HY...Bessler M	17875000	2007
21	Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. ⁵⁴	Marrone A...Dokal I	17640862	2007
22	Telomerase mutations in families with idiopathic pulmonary fibrosis. ⁵⁴	Armanios MY...Loyd JE	17392301	2007
23	The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain. ⁵⁴	Yingling YG...Shapiro BA	17206847	2007
24	Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. ⁵⁴	Field JJ...Wilson DB	16825992	2006
25	TERC mutations in children with refractory cytopenia. ⁵⁴	Ortmann CA...Kratz CP	16670076	2006
26	The effect of TERC haploinsufficiency on the inheritance of telomere length. ⁵⁴	Goldman F...Bessler M	16284252	2005
27	Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. ⁵⁴	Armanios M...Greider CW	16247010	2005
28	Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. ⁵⁴	Marrone A...Mason PJ	15319288	2004
29	Dyskeratosis congenita and telomerase. ⁵⁴	Bessler M...Mason PJ	14758110	2004
30	Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. ⁵⁴	Yamaguchi H...Young NS	12676774	2003

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Genes for Dyskeratosis Congenita, Autosomal Dominant 1

Genes/enhancers related to Dyskeratosis Congenita, Autosomal Dominant 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TERC	Telomerase RNA Component	RNA Gene	1021.21	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ Novoseek inferred ⁵⁴ GeneCards inferred via : Variants (show sections)	21610750 20301779 11574891 (more) 22341970 17206847 16284252 17392301 12676774 11574891 16670076 17875000 17640862 15319288 16825992 18042801
1	TERC::GH03J169762	TSS distance: +0.6kb Elite enhancer with elite association with TERC			Curated enhancer-disease association ²³ ( 27569544 )	16670076 22323451
2	TERT	Telomerase Reverse Transcriptase	Protein Coding	518.87	Pathogenic ⁶ Genetic Tests ²⁹ Novoseek inferred ⁵⁴ GeneCards inferred via : Variants (show sections)	21610750 20301779 16247010 (more) 17392301 18460650 17875000 17640862
3	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	508.99	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	21610750 20301779
4	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	10.22	Novoseek inferred ⁵⁴	14758110
5	LOC110806306	Telomerase RNA Component (TERC) Promoter	Biological Region	9.13	GeneCards inferred via : Variants (show sections)
6	LOC110806263	TERT 5' Regulatory Region	Biological Region	7.95	GeneCards inferred via : Variants (show sections)
7	MECOM	MDS1 And EVI1 Complex Locus	Protein Coding	7.95	GeneCards inferred via : Variants (show sections)
8	ACTRT3	Actin Related Protein T3	Protein Coding	7.61	GeneCards inferred via : Variants (show sections)
9	INPP4A	Inositol Polyphosphate-4-Phosphatase Type I A	Protein Coding	7.61	GeneCards inferred via : Variants (show sections)

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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 140) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TINF2	NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	SNV	Pathogenic	5624	rs121918543	14:24709848-24709848	14:24240642-24240642
2	TINF2	NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)	SNV	Pathogenic	5626	rs121918545	14:24709842-24709842	14:24240636-24240636
3	TINF2	NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	SNV	Pathogenic	5627	rs121918545	14:24709842-24709842	14:24240636-24240636
4	TERC	NR_001566.1(TERC):n.374_1194del821	deletion	Pathogenic	7319	rs1553915517	3:169481651-169482471	3:169763863-169764683
5	TERC	NR_001566.1(TERC):n.408C>G	SNV	Pathogenic	7320	rs199422284	3:169482441-169482441	3:169764653-169764653
6	TERC	NR_001566.1(TERC):n.107_108delinsAG	indel	Pathogenic	7321	rs199476393	3:169482741-169482742	3:169764953-169764954
7	TERC	NR_001566.1(TERC):n.204C>G	SNV	Pathogenic	7322	rs199422277	3:169482645-169482645	3:169764857-169764857
8	TERC	NR_001566.1(TERC):n.116C>T	SNV	Pathogenic	7326	rs199422272	3:169482733-169482733	3:169764945-169764945
9	TERT	NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)	SNV	Pathogenic	12735	rs121918665	5:1264656-1264656	5:1264541-1264541
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	TINF2	NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)	SNV	Pathogenic	38917	rs121918543	14:24709848-24709848	14:24240642-24240642
20	TERT	TERT:c.1710G>Y (p.Lys570Asn)	SNV	Pathogenic	39103	rs1554041299	5:1282603-1282603	5:1282488-1282488
21	TERT	NM_198253.3(TERT):c.2029G>T (p.Gly677Cys)	SNV	Pathogenic	39105	rs199422296	5:1279507-1279507	5:1279392-1279392
22	TERT	NM_198253.3(TERT):c.2045G>A (p.Gly682Asp)	SNV	Pathogenic	39106	rs199422295	5:1279491-1279491	5:1279376-1279376
23	TERT	NM_198253.3(TERT):c.2162C>G (p.Pro721Arg)	SNV	Pathogenic	39110	rs199422299	5:1278880-1278880	5:1278765-1278765
24	TERC	NR_001566.1(TERC):n.-240_-239del	short repeat	Pathogenic	39279	rs199422255	3:169483087-169483088	3:169765299-169765300
25	TERC	NR_001566.1(TERC):n.100T>A	SNV	Pathogenic	39280	rs199422269	3:169482749-169482749	3:169764961-169764961
26	TERC	NR_001566.1(TERC):n.143G>A	SNV	Pathogenic	39282	rs199422274	3:169482706-169482706	3:169764918-169764918
27	TERC	NR_001566.1(TERC):n.216_229del	deletion	Pathogenic	39285	rs199422278	3:169482620-169482633	3:169764832-169764845
28	TERC	NR_001566.1(TERC):n.96_97del	deletion	Pathogenic	39301	rs199422267	3:169482752-169482753	3:169764964-169764965
29	LOC110806306 , TERC	NR_001566.1(TERC):n.2G>C	SNV	Pathogenic	39288	rs199422257	3:169482847-169482847	3:169765059-169765059
30	TERC	NR_001566.1(TERC):n.35C>T	SNV	Pathogenic	39292	rs199422260	3:169482814-169482814	3:169765026-169765026
31	LOC110806306 , TERC	NR_001566.1(TERC):n.48A>G	SNV	Pathogenic	39297	rs199422262	3:169482801-169482801	3:169765013-169765013
32	TERC	NR_001566.1(TERC):n.53_87del	deletion	Pathogenic	39299	rs199422264	3:169482762-169482796	3:169764974-169765008
33	TERC	NR_001566.1(TERC):n.79del	deletion	Pathogenic	39300	rs199422266	3:169482770-169482770	3:169764982-169764982
34	ACTRT3 , LOC110806306 , TERC	NM_032487.4(ACTRT3):c.831_*2687del2976	deletion	Pathogenic	40977		3:169482529-169485504	3:169764741-169767716
35	TERC	NR_001566.1(TERC):n.410C>G	SNV	Pathogenic	39295	rs199422286	3:169482439-169482439	3:169764651-169764651
36	TERC	NM_004991.4(MECOM):c.38-101211_38-101210del	deletion	Likely pathogenic	916672		3:169200522-169200523	3:169482734-169482735
37	TERC	NM_004991.4(MECOM):c.38-101210del	deletion	Likely pathogenic	916673		3:169200522-169200522	3:169482734-169482734
38	TERC	NR_001566.1(TERC):n.54_57del	deletion	Likely pathogenic	30265	rs199422263	3:169482792-169482795	3:169765004-169765007
39	TERC	NR_001566.1(TERC):n.443C>A	SNV	Likely pathogenic	436977	rs1553915577	3:169482406-169482406	3:169764618-169764618
40	TERC	NR_001566.1(TERC):n.306T>G	SNV	Likely pathogenic	436976	rs1553915591	3:169482543-169482543	3:169764755-169764755
41	INPP4A	NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)	SNV	Likely pathogenic	623236	rs1306444586	2:99136547-99136547	2:98520084-98520084
42	TERT	NM_198253.2(TERT):c.2287-5G>A	SNV	Conflicting interpretations of pathogenicity	446374	rs561426406	5:1272400-1272400	5:1272285-1272285
43	TGM1 , TINF2	NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)	SNV	Conflicting interpretations of pathogenicity	38918	rs199422322	14:24709845-24709845	14:24240639-24240639
44	TERT	NM_198253.3(TERT):c.887A>C (p.His296Pro)	SNV	Conflicting interpretations of pathogenicity	268080	rs778187343	5:1294114-1294114	5:1293999-1293999
45	TERT	NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	SNV	Conflicting interpretations of pathogenicity	39108	rs199422297	5:1279426-1279426	5:1279311-1279311
46	TERT	NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	SNV	Uncertain significance	39118	rs199422305	5:1260624-1260624	5:1260509-1260509
47	TERT	NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	SNV	Uncertain significance	39111	rs149566858	5:1278865-1278865	5:1278750-1278750
48	TERC	NR_001566.1(TERC):n.360C>G	SNV	Uncertain significance	242270	rs777348518	3:169482489-169482489	3:169764701-169764701
49	TERC	NR_001566.1(TERC):n.267C>T	SNV	Uncertain significance	242269	rs762111072	3:169482582-169482582	3:169764794-169764794
50	TERC	NR_001566.1(TERC):n.232A>C	SNV	Uncertain significance	242268	rs878855313	3:169482617-169482617	3:169764829-169764829

Sources

Expression for Dyskeratosis Congenita, Autosomal Dominant 1

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

Sources

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	Chromosome Maintenance ⁶⁵ Show member pathways Deposition of new CENPA-containing nucleosomes at the centromere ⁶⁵ Nucleosome assembly ⁶⁵ Telomere Maintenance ⁶⁵	11.66	TINF2 TERT DKC1
2	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶³ Interferon alpha/beta signaling ⁶⁵ Regulation of IFNA signaling ⁶⁵	11.54	TINF2 TERT DKC1
3	Regulation of Telomerase ¹	10.62	TINF2 TERT DKC1
4	Telomere Extension by Telomerase ⁶³ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁵	10.58	TINF2 TERT

Sources

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	chromosome, telomeric region	GO:0000781	9.43	TINF2 TERT TERC
2	Cajal body	GO:0015030	9.37	TERC DKC1
3	nuclear telomere cap complex	GO:0000783	9.32	TINF2 TERT
4	box H/ACA telomerase RNP complex	GO:0090661	9.16	TERC DKC1
5	telomerase catalytic core complex	GO:0000333	8.96	TERT TERC
6	telomerase holoenzyme complex	GO:0005697	8.8	TERT TERC DKC1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA biosynthetic process	GO:0071897	9.16	TERT TERC
2	negative regulation of cellular senescence	GO:2000773	8.96	TERT TERC
3	telomere maintenance via telomerase	GO:0007004	8.8	TERT TERC DKC1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	telomeric DNA binding	GO:0042162	9.32	TINF2 TERT
2	telomerase RNA binding	GO:0070034	9.26	TERT DKC1
3	RNA-directed DNA polymerase activity	GO:0003964	9.16	TERT TERC
4	telomerase RNA reverse transcriptase activity	GO:0003721	8.96	TERT TERC
5	telomerase activity	GO:0003720	8.8	TERT TERC DKC1

Sources

Sources for Dyskeratosis Congenita, Autosomal Dominant 1

¹ BioSystems

² BitterDB

³ CDC

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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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:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 1

Genetic Tests for Dyskeratosis Congenita, Autosomal Dominant 1

Genetic tests related to Dyskeratosis Congenita, Autosomal Dominant 1:

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 1

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

Publications for Dyskeratosis Congenita, Autosomal Dominant 1

Articles related to Dyskeratosis Congenita, Autosomal Dominant 1:

Genes for Dyskeratosis Congenita, Autosomal Dominant 1

Genes/enhancers related to Dyskeratosis Congenita, Autosomal Dominant 1 (3 elite genes):

Variations for Dyskeratosis Congenita, Autosomal Dominant 1

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:

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

Sources for Dyskeratosis Congenita, Autosomal Dominant 1