DKCA1
MCID: DYS141
MIFTS: 36

Dyskeratosis Congenita, Autosomal Dominant 1 (DKCA1)

Categories: Genetic diseases, Skin diseases, Blood diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Immune 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 13
Dyskeratosis Congenita, Scoggins Type 57 12
Dkca1 57 12
Dyskeratosis Congenita, Autosomal Dominant, Type 1 40
Autosomal Dominant Dyskeratosis Congenita 1 12
Dyskeratosis Congenita, Autosomal Dominant 73

Characteristics:

OMIM:

57
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:

32
dyskeratosis congenita, autosomal dominant 1:
Onset and clinical course phenotypic variability
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)

MalaCards based summary : Dyskeratosis Congenita, Autosomal Dominant 1, also known as dyskeratosis congenita, scoggins type, is related to dyskeratosis congenita, autosomal recessive 1 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 Gastric cancer and Chromosome Maintenance. Affiliated tissues include skin, bone and bone marrow, 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 17)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 1 10.8
2 dyskeratosis congenita, x-linked 10.8
3 dyskeratosis congenita, autosomal recessive 2 10.8
4 dyskeratosis congenita, autosomal recessive 3 10.8
5 dyskeratosis congenita, autosomal dominant 2 10.8
6 dyskeratosis congenita, autosomal recessive 5 10.8
7 dyskeratosis congenita, autosomal recessive 6 10.8
8 dyskeratosis congenita, autosomal dominant 6 10.8
9 inherited bone marrow failure syndromes 9.8 TERC TERT
10 cervical intraepithelial neoplasia 9.7 TERC TERT
11 pulmonary fibrosis, idiopathic 9.6 TERC TERT
12 cervical cancer 9.5 TERC TERT
13 myelodysplastic syndrome 9.2 TERC TERT
14 dyskeratosis congenita autosomal dominant 8.9 TERC TERT TINF2
15 pulmonary fibrosis 8.8 TERC TERT TINF2
16 dyskeratosis congenita 8.8 TERC TERT TINF2
17 aplastic anemia 8.7 TERC TERT TINF2

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
pulmonary fibrosis
interstitial pneumonitis

Skin Nails Hair Nails:
nail dystrophy
nail pitting
nail ridging

Neoplasia:
squamous cell carcinoma of the skin

Head And Neck Mouth:
leukoplakia

Skin Nails Hair Skin:
reticulate hyperpigmentation
skin atrophy

Hematology:
anemia
pancytopenia
aplastic anemia
thrombocytopenia
lymphopenia
more
Skin Nails Hair Hair:
alopecia
sparse hair
hair loss
premature graying

Head And Neck Teeth:
early tooth loss
dental caries

Abdomen Liver:
liver cirrhosis

Laboratory Abnormalities:
shortened telomeres


Clinical features from OMIM:

127550

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 1:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 carious teeth 32 HP:0000670
3 osteoporosis 32 HP:0000939
4 pulmonary fibrosis 32 HP:0002206
5 anemia 32 HP:0001903
6 bone marrow hypocellularity 32 HP:0005528
7 aplastic anemia 32 HP:0001915
8 myelodysplasia 32 HP:0002863
9 nail dystrophy 32 HP:0008404
10 specific learning disability 32 HP:0001328
11 alopecia 32 HP:0001596
12 cirrhosis 32 HP:0001394
13 thrombocytopenia 32 HP:0001873
14 premature graying of hair 32 HP:0002216
15 cerebellar hypoplasia 32 HP:0001321
16 lymphopenia 32 HP:0001888
17 sparse hair 32 HP:0008070
18 nail pits 32 HP:0001803
19 ridged nail 32 HP:0001807
20 oral leukoplakia 32 HP:0002745
21 squamous cell carcinoma of the skin 32 HP:0006739
22 interstitial pneumonitis 32 HP:0006515
23 dermal atrophy 32 HP:0004334
24 reticular hyperpigmentation 32 HP:0007588
25 premature loss of teeth 32 HP:0006480

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

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 1

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

41
Skin, Bone, Bone Marrow, Liver

Publications for Dyskeratosis Congenita, Autosomal Dominant 1

Variations for Dyskeratosis Congenita, Autosomal Dominant 1

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

6
(show top 50) (show all 127)
# Gene Variation Type Significance SNP ID Assembly Location
1 TINF2 NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu) single nucleotide variant Pathogenic rs121918543 GRCh37 Chromosome 14, 24709848: 24709848
2 TINF2 NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu) single nucleotide variant Pathogenic rs121918543 GRCh38 Chromosome 14, 24240642: 24240642
3 TINF2 NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser) single nucleotide variant Pathogenic rs121918545 GRCh37 Chromosome 14, 24709842: 24709842
4 TINF2 NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser) single nucleotide variant Pathogenic rs121918545 GRCh38 Chromosome 14, 24240636: 24240636
5 TINF2 NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs121918545 GRCh37 Chromosome 14, 24709842: 24709842
6 TINF2 NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs121918545 GRCh38 Chromosome 14, 24240636: 24240636
7 TERC NR_001566.1(TERC): n.374_1194del821 deletion Pathogenic GRCh37 Chromosome 3, 169481655: 169482475
8 TERC NR_001566.1(TERC): n.374_1194del821 deletion Pathogenic GRCh38 Chromosome 3, 169763867: 169764687
9 TERC NR_001566.1(TERC): n.408C> G single nucleotide variant Pathogenic rs199422284 GRCh37 Chromosome 3, 169482441: 169482441
10 TERC NR_001566.1(TERC): n.408C> G single nucleotide variant Pathogenic rs199422284 GRCh38 Chromosome 3, 169764653: 169764653
11 TERC NR_001566.1(TERC): n.107_108delGCinsAG indel Pathogenic rs199476393 GRCh37 Chromosome 3, 169482741: 169482742
12 TERC NR_001566.1(TERC): n.107_108delGCinsAG indel Pathogenic rs199476393 GRCh38 Chromosome 3, 169764953: 169764954
13 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh37 Chromosome 3, 169482645: 169482645
14 TERC NR_001566.1(TERC): n.204C> G single nucleotide variant Pathogenic rs199422277 GRCh38 Chromosome 3, 169764857: 169764857
15 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh37 Chromosome 3, 169482733: 169482733
16 TERC NR_001566.1(TERC): n.116C> T single nucleotide variant Pathogenic rs199422272 GRCh38 Chromosome 3, 169764945: 169764945
17 TERT NM_198253.2(TERT): c.2706G> C (p.Lys902Asn) single nucleotide variant Pathogenic rs121918665 GRCh37 Chromosome 5, 1264656: 1264656
18 TERT NM_198253.2(TERT): c.2706G> C (p.Lys902Asn) single nucleotide variant Pathogenic rs121918665 GRCh38 Chromosome 5, 1264541: 1264541
19 TERC NR_001566.1(TERC): n.54_57delAACT deletion Pathogenic rs199422263 GRCh37 Chromosome 3, 169482792: 169482795
20 TERC NR_001566.1(TERC): n.54_57delAACT deletion Pathogenic rs199422263 GRCh38 Chromosome 3, 169765004: 169765007
21 TINF2 NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro) single nucleotide variant Pathogenic rs199422316 GRCh38 Chromosome 14, 24240620: 24240620
22 TINF2 NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser) indel Pathogenic rs199422318 GRCh38 Chromosome 14, 24240614: 24240615
23 TINF2 NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly) single nucleotide variant Pathogenic rs199422319 GRCh37 Chromosome 14, 24709815: 24709815
24 TINF2 NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser) indel Pathogenic rs199422318 GRCh37 Chromosome 14, 24709820: 24709821
25 TINF2 NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly) single nucleotide variant Pathogenic rs199422319 GRCh38 Chromosome 14, 24240609: 24240609
26 TINF2 NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs) deletion Pathogenic rs199422320 GRCh37 Chromosome 14, 24709794: 24709794
27 TINF2 NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs) deletion Pathogenic rs199422320 GRCh38 Chromosome 14, 24240588: 24240588
28 TINF2 NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro) single nucleotide variant Pathogenic rs199422316 GRCh37 Chromosome 14, 24709826: 24709826
29 TINF2 NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala) single nucleotide variant Pathogenic rs199422314 GRCh38 Chromosome 14, 24240630: 24240630
30 TINF2 NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter) single nucleotide variant Pathogenic rs121918543 GRCh37 Chromosome 14, 24709848: 24709848
31 TINF2 NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter) single nucleotide variant Pathogenic rs121918543 GRCh38 Chromosome 14, 24240642: 24240642
32 TINF2 NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala) single nucleotide variant Pathogenic rs199422311 GRCh37 Chromosome 14, 24709839: 24709839
33 TINF2 NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala) single nucleotide variant Pathogenic rs199422311 GRCh38 Chromosome 14, 24240633: 24240633
34 TINF2 NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser) single nucleotide variant Pathogenic rs199422311 GRCh37 Chromosome 14, 24709839: 24709839
35 TINF2 NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser) single nucleotide variant Pathogenic rs199422311 GRCh38 Chromosome 14, 24240633: 24240633
36 TINF2 NM_001099274.1(TINF2): c.848C> A (p.Pro283His) single nucleotide variant Pathogenic rs199422313 GRCh37 Chromosome 14, 24709838: 24709838
37 TINF2 NM_001099274.1(TINF2): c.848C> A (p.Pro283His) single nucleotide variant Pathogenic rs199422313 GRCh38 Chromosome 14, 24240632: 24240632
38 TINF2 NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs) duplication Pathogenic rs199422315 GRCh37 Chromosome 14, 24709837: 24709837
39 TINF2 NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs) duplication Pathogenic rs199422315 GRCh38 Chromosome 14, 24240631: 24240631
40 TINF2 NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala) single nucleotide variant Pathogenic rs199422314 GRCh37 Chromosome 14, 24709836: 24709836
41 TERT TERT: c.1710G> Y (p.Lys570Asn) single nucleotide variant Pathogenic
42 TERT NM_198253.2(TERT): c.2029G> T (p.Gly677Cys) single nucleotide variant Pathogenic rs199422296 GRCh37 Chromosome 5, 1279507: 1279507
43 TERT NM_198253.2(TERT): c.2029G> T (p.Gly677Cys) single nucleotide variant Pathogenic rs199422296 GRCh38 Chromosome 5, 1279392: 1279392
44 TERT NM_198253.2(TERT): c.2045G> A (p.Gly682Asp) single nucleotide variant Pathogenic rs199422295 GRCh37 Chromosome 5, 1279491: 1279491
45 TERT NM_198253.2(TERT): c.2045G> A (p.Gly682Asp) single nucleotide variant Pathogenic rs199422295 GRCh38 Chromosome 5, 1279376: 1279376
46 TERT NM_198253.2(TERT): c.2162C> G (p.Pro721Arg) single nucleotide variant Pathogenic rs199422299 GRCh37 Chromosome 5, 1278880: 1278880
47 TERT NM_198253.2(TERT): c.2162C> G (p.Pro721Arg) single nucleotide variant Pathogenic rs199422299 GRCh38 Chromosome 5, 1278765: 1278765
48 TERC NR_001566.1(TERC): n.-240_-239del deletion Pathogenic rs199422255 GRCh37 Chromosome 3, 169483087: 169483088
49 TERC NR_001566.1(TERC): n.-240_-239del deletion Pathogenic rs199422255 GRCh38 Chromosome 3, 169765299: 169765300
50 TERC NR_001566.1(TERC): n.100T> A single nucleotide variant Pathogenic rs199422269 GRCh37 Chromosome 3, 169482749: 169482749

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
Show member pathways
11.92 TERC TERT
2
Show member pathways
11.69 TERT TINF2
3
Show member pathways
10.98 TERT TINF2
4 10.44 TERT TINF2

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 GO:0005694 9.37 TERT TINF2
2 nuclear chromosome, telomeric region GO:0000784 9.32 TERT TINF2
3 telomerase holoenzyme complex GO:0005697 9.26 TERC TERT
4 nuclear telomere cap complex GO:0000783 9.16 TERT TINF2
5 telomerase catalytic core complex GO:0000333 8.96 TERC TERT
6 chromosome, telomeric region GO:0000781 8.8 TERC TERT TINF2

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.26 TERC TERT
2 DNA biosynthetic process GO:0071897 9.16 TERC TERT
3 telomere maintenance via telomerase GO:0007004 8.96 TERC TERT
4 negative regulation of cellular senescence GO:2000773 8.62 TERC TERT

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 9.26 TERT TINF2
2 telomerase activity GO:0003720 9.16 TERC TERT
3 RNA-directed DNA polymerase activity GO:0003964 8.96 TERC TERT
4 telomerase RNA reverse transcriptase activity GO:0003721 8.62 TERC TERT

Sources for Dyskeratosis Congenita, Autosomal Dominant 1

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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