MCID: DYS040
MIFTS: 26

Dyskeratosis Congenita Autosomal Recessive

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 53
Autosomal Recessive Dyskeratosis Congenita 53 6
Dyskeratosis Congenita, Autosomal Recessive 73
Dkcb 53

Classifications:



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UMLS 73 C3502105

Summaries for Dyskeratosis Congenita Autosomal Recessive

MalaCards based summary : Dyskeratosis Congenita Autosomal Recessive, also known as autosomal recessive dyskeratosis congenita, is related to dyskeratosis congenita, autosomal recessive 5 and dyskeratosis congenita, autosomal recessive 1. An important gene associated with Dyskeratosis Congenita Autosomal Recessive is RTEL1 (Regulator Of Telomere Elongation Helicase 1), and among its related pathways/superpathways are Chromosome Maintenance and TGF-beta Signaling Pathway (WikiPathways).

Related Diseases for Dyskeratosis Congenita Autosomal Recessive

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 Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 5 34.1 RTEL1 RTEL1-TNFRSF6B TNFRSF6B
2 dyskeratosis congenita, autosomal recessive 1 33.2 NHP2 NOP10 NUTM1 TERT
3 dyskeratosis congenita, autosomal recessive 3 32.8 EFNB3 TP53 WRAP53
4 dyskeratosis congenita, autosomal dominant 6 31.2 ACD CARMIL2 PARD6A
5 dyskeratosis congenita, autosomal recessive 2 12.5
6 dyskeratosis congenita, autosomal recessive 6 12.5
7 dyskeratosis congenita, autosomal dominant 2 12.0
8 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.1 RTEL1 RTEL1-TNFRSF6B TNFRSF6B
9 pulmonary fibrosis 10.1 PARN RTEL1 TERT
10 bladder papillary transitional cell neoplasm 9.8 TERT TP53
11 urinary tract papillary transitional cell benign neoplasm 9.8 TERT TP53
12 pulmonary fibrosis, idiopathic 9.6 PARN RTEL1 TERT
13 soft tissue sarcoma 9.5 TERT TP53
14 melanoma, cutaneous malignant 1 9.4 ACD TERT TP53
15 adamantinoma of long bones 9.3 TERT TP53 WRAP53
16 aplastic anemia 8.8 NHP2 NOP10 RTEL1 TERT TP53
17 dyskeratosis congenita autosomal dominant 8.6 ACD CARMIL2 PARD6A RTEL1 RTEL1-TNFRSF6B TERT
18 dyskeratosis congenita 5.7 ACD NHP2 NOP10 NUTM1 PARD6A PARN

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



Diseases related to Dyskeratosis Congenita Autosomal Recessive

Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Recessive

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

Anatomical Context for Dyskeratosis Congenita Autosomal Recessive

Publications for Dyskeratosis Congenita Autosomal Recessive

Articles related to Dyskeratosis Congenita Autosomal Recessive:

# Title Authors Year
1
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. ( 17785587 )
2007
2
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. ( 17507419 )
2007

Variations for Dyskeratosis Congenita Autosomal Recessive

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Recessive:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCLRE1B NM_022836.3(DCLRE1B): c.279C> T (p.Thr93=) single nucleotide variant Likely benign rs144640614 GRCh37 Chromosome 1, 114449707: 114449707
2 DCLRE1B NM_022836.3(DCLRE1B): c.279C> T (p.Thr93=) single nucleotide variant Likely benign rs144640614 GRCh38 Chromosome 1, 113907085: 113907085
3 DCLRE1B NM_022836.3(DCLRE1B): c.77T> G (p.Leu26Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 113905663: 113905663
4 DCLRE1B NM_022836.3(DCLRE1B): c.77T> G (p.Leu26Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114448285: 114448285
5 DCLRE1B NM_022836.3(DCLRE1B): c.1456dup (p.Ser486Lysfs) duplication Uncertain significance GRCh37 Chromosome 1, 114454670: 114454670
6 DCLRE1B NM_022836.3(DCLRE1B): c.1456dup (p.Ser486Lysfs) duplication Uncertain significance GRCh38 Chromosome 1, 113912048: 113912048
7 DCLRE1B NM_022836.3(DCLRE1B): c.847C> T (p.Arg283Cys) single nucleotide variant Likely benign rs145569979 GRCh38 Chromosome 1, 113911439: 113911439
8 DCLRE1B NM_022836.3(DCLRE1B): c.847C> T (p.Arg283Cys) single nucleotide variant Likely benign rs145569979 GRCh37 Chromosome 1, 114454061: 114454061
9 DCLRE1B NM_022836.3(DCLRE1B): c.84_86delCTT (p.Phe28del) deletion Uncertain significance GRCh38 Chromosome 1, 113905670: 113905672
10 DCLRE1B NM_022836.3(DCLRE1B): c.84_86delCTT (p.Phe28del) deletion Uncertain significance GRCh37 Chromosome 1, 114448292: 114448294
11 DCLRE1B NM_022836.3(DCLRE1B): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance rs770692934 GRCh38 Chromosome 1, 113907024: 113907024
12 DCLRE1B NM_022836.3(DCLRE1B): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance rs770692934 GRCh37 Chromosome 1, 114449646: 114449646
13 DCLRE1B NM_022836.3(DCLRE1B): c.1149G> A (p.Ala383=) single nucleotide variant Uncertain significance rs759682384 GRCh37 Chromosome 1, 114454363: 114454363
14 DCLRE1B NM_022836.3(DCLRE1B): c.1149G> A (p.Ala383=) single nucleotide variant Uncertain significance rs759682384 GRCh38 Chromosome 1, 113911741: 113911741
15 DCLRE1B NM_022836.3(DCLRE1B): c.1384G> A (p.Asp462Asn) single nucleotide variant Benign rs28381079 GRCh38 Chromosome 1, 113911976: 113911976
16 DCLRE1B NM_022836.3(DCLRE1B): c.1384G> A (p.Asp462Asn) single nucleotide variant Benign rs28381079 GRCh37 Chromosome 1, 114454598: 114454598
17 DCLRE1B NM_022836.3(DCLRE1B): c.1528A> T (p.Asn510Tyr) single nucleotide variant Benign rs35397235 GRCh37 Chromosome 1, 114454742: 114454742
18 DCLRE1B NM_022836.3(DCLRE1B): c.1528A> T (p.Asn510Tyr) single nucleotide variant Benign rs35397235 GRCh38 Chromosome 1, 113912120: 113912120

Expression for Dyskeratosis Congenita Autosomal Recessive

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

Pathways for Dyskeratosis Congenita Autosomal Recessive

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 ACD NHP2 TERT WRAP53
2 11.46 PARD6A TERT TP53
3 10.6 PARN RTEL1 TERT

GO Terms for Dyskeratosis Congenita Autosomal Recessive

Cellular components related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.91 NHP2 NOP10 PARN TERT TP53
2 nuclear body GO:0016604 9.76 ACD NOP10 TP53 WRAP53
3 nuclear chromosome, telomeric region GO:0000784 9.65 ACD NHP2 TERT
4 chromosome, telomeric region GO:0000781 9.5 ACD RTEL1 TERT
5 nuclear telomere cap complex GO:0000783 9.43 ACD TERT
6 Cajal body GO:0015030 9.43 NHP2 NOP10 WRAP53
7 small nucleolar ribonucleoprotein complex GO:0005732 9.4 NHP2 NOP10
8 box H/ACA snoRNP complex GO:0031429 9.37 NHP2 NOP10
9 box H/ACA telomerase RNP complex GO:0090661 9.16 NHP2 NOP10
10 box H/ACA scaRNP complex GO:0072589 8.96 NHP2 NOP10
11 telomerase holoenzyme complex GO:0005697 8.92 NHP2 NOP10 TERT WRAP53
12 nucleus GO:0005634 10.24 ACD NHP2 NOP10 NUTM1 PARD6A PARN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of telomere maintenance via telomerase GO:0032212 9.49 ACD PARN
2 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.48 TERT TP53
3 regulation of double-strand break repair via homologous recombination GO:0010569 9.46 RTEL1 RTEL1-TNFRSF6B
4 telomere maintenance GO:0000723 9.46 ACD RTEL1 RTEL1-TNFRSF6B TERT
5 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.43 NHP2 NOP10
6 positive regulation of telomerase activity GO:0051973 9.43 ACD PARN WRAP53
7 replicative senescence GO:0090399 9.4 TERT TP53
8 rRNA pseudouridine synthesis GO:0031118 9.37 NHP2 NOP10
9 snRNA pseudouridine synthesis GO:0031120 9.32 NHP2 NOP10
10 establishment of protein localization to telomere GO:0070200 9.13 ACD TERT WRAP53
11 telomere maintenance via telomerase GO:0007004 8.92 NHP2 NOP10 TERT WRAP53

Molecular functions related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.61 ACD CARMIL2 WRAP53
2 ATP-dependent DNA helicase activity GO:0004003 9.46 RTEL1 RTEL1-TNFRSF6B
3 telomeric DNA binding GO:0042162 9.4 ACD TERT
4 snoRNA binding GO:0030515 9.37 NHP2 NOP10
5 chaperone binding GO:0051087 9.33 TERT TP53 WRAP53
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.32 RTEL1 RTEL1-TNFRSF6B
7 ATP-dependent helicase activity GO:0008026 9.26 RTEL1 RTEL1-TNFRSF6B
8 telomerase RNA binding GO:0070034 9.02 NHP2 NOP10 PARN TERT WRAP53
9 box H/ACA snoRNA binding GO:0034513 8.96 NHP2 NOP10

Sources for Dyskeratosis Congenita Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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