MCID: DYS039
MIFTS: 28

Dyskeratosis Congenita Autosomal Dominant malady

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

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Aliases & Descriptions for Dyskeratosis Congenita Autosomal Dominant:

Name: Dyskeratosis Congenita Autosomal Dominant 45
Dyskeratosis Congenita, Autosomal Dominant 47 24 65
Autosomal Dominant Dyskeratosis Congenita 45
 
Dyskeratosis Congenita Scoggins Type 45
Dkca 45

Classifications:



External Ids:

UMLS65 C1851970

Summaries for Dyskeratosis Congenita Autosomal Dominant

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MalaCards based summary: Dyskeratosis Congenita Autosomal Dominant, also known as dyskeratosis congenita, autosomal dominant, is related to dyskeratosis congenita, autosomal dominant 2 and dyskeratosis congenita, autosomal dominant 3. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TERT (Telomerase Reverse Transcriptase), and among its related pathways are Telomere Extension by Telomerase and Cell Cycle, Mitotic. Affiliated tissues include eye, liver and skin, and related mouse phenotypes are reproductive system and normal.

Related Diseases for Dyskeratosis Congenita Autosomal Dominant

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Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Dominant 2
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Recessive 5 dyskeratosis congenita autosomal dominant
Dyskeratosis Congenita Autosomal Recessive Rtel1-Related Dyskeratosis Congenita
Acd-Related Dyskeratosis Congenita Dkc1-Related Dyskeratosis Congenita
Nhp2-Related Dyskeratosis Congenita Nop10-Related Dyskeratosis Congenita
Terc-Related Dyskeratosis Congenita Tert-Related Dyskeratosis Congenita
Tinf2-Related Dyskeratosis Congenita Wrap53-Related Dyskeratosis Congenita

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

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita, autosomal dominant 212.4
2dyskeratosis congenita, autosomal dominant 312.4
3dyskeratosis congenita, autosomal dominant 612.4
4dyskeratosis congenita, autosomal dominant 112.2
5dyskeratosis congenita, autosomal recessive 511.8
6revesz syndrome11.5
7rtel1-related dyskeratosis congenita11.2
8acd-related dyskeratosis congenita11.2
9dyskeratosis congenita10.5
10retinitis10.3
11dubin-johnson syndrome9.8ACD, TERT
12rasa1-related disorders9.7TERC, TERT
13pulmonary sarcoidosis9.6RTEL1, TERT, TINF2
14sulfhemoglobinemia9.6DKC1, TERT
15cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction9.5TERC, TERT
16dysmorphism abnormal vocalization mental retardation9.4ACD, RTEL1, TERT
17aplastic anemia9.4TERC, TERT, TINF2
18diamond-blackfan anemia 39.1RTEL1, TERC, TERT
19hypocalciuric hypercalcemia, type i8.4DKC1, RTEL1, TERC, TERT, TINF2
20dyskeratosis congenita autosomal recessive7.8ACD, DKC1, RTEL1, TERC, TERT, TINF2
21epidermolysis bullosa7.8ACD, DKC1, RTEL1, TERC, TERT, TINF2

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



Diseases related to dyskeratosis congenita autosomal dominant

Symptoms for Dyskeratosis Congenita Autosomal Dominant

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dyskeratosis Congenita Autosomal Dominant

Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

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Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

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MalaCards organs/tissues related to Dyskeratosis Congenita Autosomal Dominant:

33
Eye, Liver, Skin, Tonsil

Animal Models for Dyskeratosis Congenita Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Dyskeratosis Congenita Autosomal Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4ACD, DKC1, TERT, TINF2
2MP:00028738.4DKC1, RTEL1, TERT, TINF2
3MP:00020068.3ACD, DKC1, RTEL1, TERT
4MP:00053787.6ACD, DKC1, RTEL1, TERT, TINF2
5MP:00053847.5ACD, DKC1, RTEL1, TERT, TINF2

Publications for Dyskeratosis Congenita Autosomal Dominant

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Variations for Dyskeratosis Congenita Autosomal Dominant

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Clinvar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TERTNM_198253.2(TERT): c.2706G> C (p.Lys902Asn)single nucleotide variantPathogenicrs121918665GRCh37Chr 5, 1264656: 1264656
2TERTNM_198253.2(TERT): c.2110C> T (p.Pro704Ser)single nucleotide variantPathogenicrs199422297GRCh37Chr 5, 1279426: 1279426
3TINF2NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
4TINF2NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
5TINF2NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
6TERCNR_001566.1(TERC): n.204C> Gsingle nucleotide variantPathogenicrs199422277GRCh37Chr 3, 169482645: 169482645
7TERCNR_001566.1(TERC): n.116C> Tsingle nucleotide variantPathogenicrs199422272GRCh37Chr 3, 169482733: 169482733

Expression for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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

Pathways for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6TERT, TINF2
2
Show member pathways
8.3ACD, DKC1, TERT, TINF2
3
Show member pathways
8.3ACD, DKC1, TERT, TINF2
48.3ACD, DKC1, TERT, TINF2

GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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

idNameGO IDScoreTop Affiliating Genes
1telomere assemblyGO:00322029.7ACD, TINF2
2telomere maintenanceGO:00007239.4RTEL1, TERT
3positive regulation of telomere maintenance via telomeraseGO:00322128.8ACD, DKC1

Sources for Dyskeratosis Congenita Autosomal Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet