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, 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 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:

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 ⁷⁰ 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 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.

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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 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:

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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 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)

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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, Bone, Eye, Skin, Liver, Myeloid, Lung

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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	Jongmans MC...Kuiper RP	22341970	2012
2	Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. ⁶ ⁵⁷	Vulliamy T...Dokal I	15098033	2004
3	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. ⁶ ⁵⁷	Vulliamy T...Dokal I	11574891	2001
4	Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. ⁶	Norberg A...Hultdin M	29483670	2018
5	An Activity Switch in Human Telomerase Based on RNA Conformation and Shaped by TCAB1. ⁶	Chen L...Artandi SE	29804836	2018
6	Cryo-EM structure of substrate-bound human telomerase holoenzyme. ⁶	Nguyen THD...Collins K	29695869	2018
7	Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. ⁶	Borie R...Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P)	25612863	2015
8	Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. ⁵⁷	Walne AJ...Dokal I	23453664	2013
9	Architecture of human telomerase RNA. ⁶	Zhang Q...Feigon J	21844345	2011
10	Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. ⁶	Vulliamy TJ...Dokal I	21931702	2011
11	Dyskeratosis congenita. ⁵⁷	Bessler M...Mason PJ	20493861	2010
12	Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. ⁶	Robart AR...Collins K	20022961	2010
13	Short telomeres are sufficient to cause the degenerative defects associated with aging. ⁵⁷	Armanios M...Greider CW	19944403	2009
14	A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. ⁶	Venteicher AS...Artandi SE	19179534	2009
15	Engineered telomere degradation models dyskeratosis congenita. ⁵⁷	Hockemeyer D...de Lange T	18550783	2008
16	Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita. ⁵⁷	Goldman FD...Lansdorp PM	18310499	2008
17	Dyskeratosis congenita: a genetic disorder of many faces. ⁵⁷	Kirwan M...Dokal I	18005359	2008
18	Dysfunctional telomeres and dyskeratosis congenita. ⁵⁷	Bessler M...Mason PJ	17650438	2007
19	Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. ⁶	Marrone A...Dokal I	17640862	2007
20	Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. ⁶	Vulliamy TJ...Dokal I	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	Ly H...Lansdorp PM	15886322	2005
22	Functional analysis of the pseudoknot structure in human telomerase RNA. ⁶	Chen JL...Greider CW	15849264	2005
23	Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. ⁶	Marrone A...Mason PJ	15319288	2004
24	Telomerase RNA structure and function: implications for dyskeratosis congenita. ⁶	Chen JL...Greider CW	15082312	2004
25	Dyskeratosis congenita with linear areas of severe cutaneous involvement. ⁵⁷	Baselga E...Happle R	9489792	1998
26	Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. ⁵⁷	Happle R	8958340	1996
27	Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. ⁵⁷	Kehrer H...Schrezenmeier H	1563086	1992
28	Dyskeratosis congenita. ⁵⁷	Davidson HR...Connor JM	3236366	1988
29	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 (5 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TERC	Telomerase RNA Component	RNA Gene	1034.99	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	508.88	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)
3	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	508.79	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)
4	LOC110806306	Telomerase RNA Component (TERC) Promoter	Biological Region	409.24	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	22341970 16332973 15082312 (more) 21844345
5	TGM1	Transglutaminase 1	Protein Coding	407.4	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
6	MECOM	MDS1 And EVI1 Complex Locus	Protein Coding	32.95	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
7	INPP4A	Inositol Polyphosphate-4-Phosphatase Type I A	Protein Coding	32.4	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	15849264 21931702
8	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	9.05	GeneCards inferred via : Variants (show sections)
9	RTEL1-TNFRSF6B	RTEL1-TNFRSF6B Readthrough (NMD Candidate)	RNA Gene	9.05	GeneCards inferred via : Variants (show sections)
10	LOC110806263	TERT 5' Regulatory Region	Biological Region	7.75	GeneCards inferred via : Variants (show sections)
11	ACTRT3	Actin Related Protein T3	Protein Coding	7.4	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 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

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	Regulation of Telomerase ¹	10.78	TINF2 TERT
2	Lung fibrosis ¹	10.42	TERT RTEL1

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	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

Sources for Dyskeratosis Congenita, Autosomal Dominant 1

¹ BioSystems

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⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

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Genes for Dyskeratosis Congenita, Autosomal Dominant 1

Genes/enhancers related to Dyskeratosis Congenita, Autosomal Dominant 1 (5 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