MCID: DYS040
MIFTS: 29

Dyskeratosis Congenita Autosomal Recessive

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 54
Autosomal Recessive Dyskeratosis Congenita 54 6
Dyskeratosis Congenita, Autosomal Recessive 74
Dkcb 54

Classifications:



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UMLS 74 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). Affiliated tissues include bone, skin and liver.

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 20)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 5 34.4 RTEL1 RTEL1-TNFRSF6B TNFRSF6B
2 dyskeratosis congenita, autosomal recessive 1 33.8 NHP2 NOP10 NUTM1 TERT
3 dyskeratosis congenita, autosomal recessive 3 33.6 EFNB3 TP53 WRAP53
4 dyskeratosis congenita, autosomal dominant 6 31.9 ACD CARMIL2 PARD6A
5 dyskeratosis congenita 27.4 ACD NHP2 NOP10 NUTM1 PARD6A PARN
6 dyskeratosis congenita, autosomal recessive 2 12.7
7 dyskeratosis congenita, autosomal recessive 6 12.7
8 dyskeratosis congenita, autosomal dominant 2 12.2
9 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.2 RTEL1 RTEL1-TNFRSF6B TNFRSF6B
10 dyskeratosis congenita, x-linked 10.1 NOP10 WRAP53
11 pulmonary fibrosis 10.1 PARN RTEL1 TERT
12 revesz syndrome 10.1 NOP10 TERT
13 bladder papillary transitional cell neoplasm 9.9 TERT TP53
14 urinary tract papillary transitional cell benign neoplasm 9.9 TERT TP53
15 pulmonary fibrosis, idiopathic 9.8 PARN RTEL1 TERT
16 soft tissue sarcoma 9.8 TERT TP53
17 melanoma, cutaneous malignant 1 9.6 ACD TERT TP53
18 adamantinoma of long bones 9.6 TERT TP53 WRAP53
19 aplastic anemia 9.4 NHP2 NOP10 RTEL1 TERT TP53
20 dyskeratosis congenita autosomal dominant 9.3 ACD CARMIL2 PARD6A RTEL1 RTEL1-TNFRSF6B TERT

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

MalaCards organs/tissues related to Dyskeratosis Congenita Autosomal Recessive:

42
Bone, Skin, Liver, Eye, Bone Marrow

Publications for Dyskeratosis Congenita Autosomal Recessive

Articles related to Dyskeratosis Congenita Autosomal Recessive:

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

Variations for Dyskeratosis Congenita Autosomal Recessive

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Recessive:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCLRE1B NM_022836.4(DCLRE1B): c.279C> T (p.Thr93=) single nucleotide variant Likely benign rs144640614 GRCh37 Chromosome 1, 114449707: 114449707
2 DCLRE1B NM_022836.4(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 rs1553260999 GRCh38 Chromosome 1, 113905663: 113905663
4 DCLRE1B NM_022836.3(DCLRE1B): c.77T> G (p.Leu26Arg) single nucleotide variant Uncertain significance rs1553260999 GRCh37 Chromosome 1, 114448285: 114448285
5 DCLRE1B NM_022836.4(DCLRE1B): c.1456dup (p.Ser486Lysfs) duplication Uncertain significance rs779442399 GRCh37 Chromosome 1, 114454670: 114454670
6 DCLRE1B NM_022836.4(DCLRE1B): c.1456dup (p.Ser486Lysfs) duplication Uncertain significance rs779442399 GRCh38 Chromosome 1, 113912048: 113912048
7 DCLRE1B NM_022836.4(DCLRE1B): c.847C> T (p.Arg283Cys) single nucleotide variant Likely benign rs145569979 GRCh38 Chromosome 1, 113911439: 113911439
8 DCLRE1B NM_022836.4(DCLRE1B): c.847C> T (p.Arg283Cys) single nucleotide variant Likely benign rs145569979 GRCh37 Chromosome 1, 114454061: 114454061
9 DCLRE1B NM_022836.4(DCLRE1B): c.84_86del (p.Phe28del) deletion Uncertain significance rs763030449 GRCh38 Chromosome 1, 113905670: 113905672
10 DCLRE1B NM_022836.4(DCLRE1B): c.84_86del (p.Phe28del) deletion Uncertain significance rs763030449 GRCh37 Chromosome 1, 114448292: 114448294
11 DCLRE1B NM_022836.4(DCLRE1B): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance rs770692934 GRCh37 Chromosome 1, 114449646: 114449646
12 DCLRE1B NM_022836.4(DCLRE1B): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance rs770692934 GRCh38 Chromosome 1, 113907024: 113907024
13 DCLRE1B NM_022836.4(DCLRE1B): c.1149G> A (p.Ala383=) single nucleotide variant Uncertain significance rs759682384 GRCh38 Chromosome 1, 113911741: 113911741
14 DCLRE1B NM_022836.4(DCLRE1B): c.1149G> A (p.Ala383=) single nucleotide variant Uncertain significance rs759682384 GRCh37 Chromosome 1, 114454363: 114454363
15 DCLRE1B NM_022836.4(DCLRE1B): c.1384G> A (p.Asp462Asn) single nucleotide variant Benign rs28381079 GRCh38 Chromosome 1, 113911976: 113911976
16 DCLRE1B NM_022836.4(DCLRE1B): c.1384G> A (p.Asp462Asn) single nucleotide variant Benign rs28381079 GRCh37 Chromosome 1, 114454598: 114454598
17 DCLRE1B NM_022836.4(DCLRE1B): c.1528A> T (p.Asn510Tyr) single nucleotide variant Benign rs35397235 GRCh37 Chromosome 1, 114454742: 114454742
18 DCLRE1B NM_022836.4(DCLRE1B): c.1528A> T (p.Asn510Tyr) single nucleotide variant Benign rs35397235 GRCh38 Chromosome 1, 113912120: 113912120
19 DCLRE1B NM_022836.4(DCLRE1B): c.892G> A (p.Val298Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114454106: 114454106
20 DCLRE1B NM_022836.4(DCLRE1B): c.892G> A (p.Val298Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 113911484: 113911484
21 DCLRE1B NM_022836.4(DCLRE1B): c.1461C> G (p.Ser487Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114454675: 114454675
22 DCLRE1B NM_022836.4(DCLRE1B): c.1461C> G (p.Ser487Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 113912053: 113912053
23 DCLRE1B NM_022836.4(DCLRE1B): c.136C> T (p.Arg46Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 113905722: 113905722
24 DCLRE1B NM_022836.4(DCLRE1B): c.136C> T (p.Arg46Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114448344: 114448344
25 DCLRE1B NM_022836.4(DCLRE1B): c.1256A> G (p.Gln419Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 113911848: 113911848
26 DCLRE1B NM_022836.4(DCLRE1B): c.1256A> G (p.Gln419Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114454470: 114454470
27 DCLRE1B NM_022836.4(DCLRE1B): c.923A> G (p.Asp308Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114454137: 114454137
28 DCLRE1B NM_022836.4(DCLRE1B): c.923A> G (p.Asp308Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 113911515: 113911515
29 DCLRE1B NM_022836.4(DCLRE1B): c.10G> A (p.Val4Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114448218: 114448218
30 DCLRE1B NM_022836.4(DCLRE1B): c.10G> A (p.Val4Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 113905596: 113905596
31 DCLRE1B NM_022836.4(DCLRE1B): c.137G> T (p.Arg46Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 113905723: 113905723
32 DCLRE1B NM_022836.4(DCLRE1B): c.137G> T (p.Arg46Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114448345: 114448345

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 11)
# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 9.76 ACD NOP10 TP53 WRAP53
2 nuclear chromosome, telomeric region GO:0000784 9.65 ACD NHP2 TERT
3 Cajal body GO:0015030 9.54 NHP2 NOP10 WRAP53
4 nuclear telomere cap complex GO:0000783 9.43 ACD TERT
5 small nucleolar ribonucleoprotein complex GO:0005732 9.4 NHP2 NOP10
6 box H/ACA snoRNP complex GO:0031429 9.32 NHP2 NOP10
7 box H/ACA telomerase RNP complex GO:0090661 9.26 NHP2 NOP10
8 chromosome, telomeric region GO:0000781 9.26 ACD RTEL1 TERT WRAP53
9 box H/ACA scaRNP complex GO:0072589 9.16 NHP2 NOP10
10 telomerase holoenzyme complex GO:0005697 8.92 NHP2 NOP10 TERT WRAP53
11 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 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.81 RTEL1 RTEL1-TNFRSF6B TP53 WRAP53
2 establishment or maintenance of cell polarity GO:0007163 9.54 CARMIL2 PARD6A
3 positive regulation of telomere maintenance via telomerase GO:0032212 9.52 ACD PARN
4 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.49 TERT TP53
5 regulation of double-strand break repair via homologous recombination GO:0010569 9.48 RTEL1 RTEL1-TNFRSF6B
6 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.46 NHP2 NOP10
7 replicative senescence GO:0090399 9.43 TERT TP53
8 establishment of protein localization to telomere GO:0070200 9.4 ACD TERT
9 mitotic telomere maintenance via semi-conservative replication GO:1902990 9.37 ACD RTEL1
10 positive regulation of telomerase activity GO:0051973 9.33 ACD PARN WRAP53
11 rRNA pseudouridine synthesis GO:0031118 9.32 NHP2 NOP10
12 snRNA pseudouridine synthesis GO:0031120 9.26 NHP2 NOP10
13 telomere maintenance GO:0000723 9.26 ACD RTEL1 RTEL1-TNFRSF6B TERT
14 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 ATP-dependent DNA helicase activity GO:0004003 9.43 RTEL1 RTEL1-TNFRSF6B
2 chaperone binding GO:0051087 9.43 TERT TP53 WRAP53
3 telomeric DNA binding GO:0042162 9.4 ACD TERT
4 DNA polymerase binding GO:0070182 9.37 ACD RTEL1
5 ATP-dependent helicase activity GO:0008026 9.32 RTEL1 RTEL1-TNFRSF6B
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.16 RTEL1 RTEL1-TNFRSF6B
7 telomerase RNA binding GO:0070034 9.02 NHP2 NOP10 PARN TERT WRAP53
8 box H/ACA snoRNA binding GO:0034513 8.96 NHP2 NOP10

Sources for Dyskeratosis Congenita Autosomal Recessive

3 CDC
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10 dbSNP
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17 EFO
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70 SNOMED-CT via HPO
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