DKCB3
MCID: DYS150
MIFTS: 30

Dyskeratosis Congenita, Autosomal Recessive 3 (DKCB3)

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

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Recessive 3

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Recessive 3:

Name: Dyskeratosis Congenita, Autosomal Recessive 3 57 13
Dyskeratosis Congenita, Autosomal Recessive, 3 72 29 6 70
Dkcb3 57 12 72
Dyskeratosis Congenita, Autosomal Recessive, Type 3 39
Autosomal Recessive Dyskeratosis Congenita 3 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (as of may 2011)


HPO:

31
dyskeratosis congenita, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070019
OMIM® 57 613988
OMIM Phenotypic Series 57 PS127550
MeSH 44 D019871
MedGen 41 C3151442
UMLS 70 C3151442

Summaries for Dyskeratosis Congenita, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 72 Dyskeratosis congenita, autosomal recessive, 3: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.

MalaCards based summary : Dyskeratosis Congenita, Autosomal Recessive 3, also known as dyskeratosis congenita, autosomal recessive, 3, is related to dyskeratosis congenita and li-fraumeni syndrome. An important gene associated with Dyskeratosis Congenita, Autosomal Recessive 3 is WRAP53 (WD Repeat Containing Antisense To TP53), and among its related pathways/superpathways is Chaperonin-mediated protein folding. Affiliated tissues include bone marrow and bone, and related phenotypes are abnormality of skin pigmentation and nail dysplasia

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.

OMIM® : 57 Dyskeratosis congenita is a genetic disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition caused by short telomeres resulting from a defect in telomerase. Clinical manifestations may be seen in the skin as leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues (summary by Zhong et al., 2011). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). (613988) (Updated 05-Apr-2021)

Related Diseases for Dyskeratosis Congenita, Autosomal Recessive 3

Graphical network of the top 20 diseases related to Dyskeratosis Congenita, Autosomal Recessive 3:



Diseases related to Dyskeratosis Congenita, Autosomal Recessive 3

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Recessive 3

Human phenotypes related to Dyskeratosis Congenita, Autosomal Recessive 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of skin pigmentation 31 HP:0001000
2 nail dysplasia 31 HP:0002164
3 bone marrow hypocellularity 31 HP:0005528
4 nail dystrophy 31 HP:0008404
5 pancytopenia 31 HP:0001876
6 squamous cell carcinoma 31 HP:0002860

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
pancytopenia
bone marrow failure

Head And Neck Mouth:
leukoplakia

Neoplasia:
squamous cell carcinoma

Laboratory Abnormalities:
shortened telomeres

Clinical features from OMIM®:

613988 (Updated 05-Apr-2021)

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Recessive 3

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Recessive 3

Genetic Tests for Dyskeratosis Congenita, Autosomal Recessive 3

Genetic tests related to Dyskeratosis Congenita, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Recessive, 3 29 WRAP53

Anatomical Context for Dyskeratosis Congenita, Autosomal Recessive 3

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Recessive 3:

40
Bone Marrow, Bone

Publications for Dyskeratosis Congenita, Autosomal Recessive 3

Articles related to Dyskeratosis Congenita, Autosomal Recessive 3:

# Title Authors PMID Year
1
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 6 57
21205863 2011
2
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 57
21602826 2011

Variations for Dyskeratosis Congenita, Autosomal Recessive 3

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Recessive 3:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WRAP53 NM_001143992.2(WRAP53):c.1118del (p.Leu373fs) Deletion Pathogenic 638511 rs1597422298 GRCh37: 17:7605824-7605824
GRCh38: 17:7702506-7702506
2 WRAP53 NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) SNV Pathogenic 30976 rs281865549 GRCh37: 17:7605832-7605832
GRCh38: 17:7702514-7702514
3 WRAP53 NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) SNV Pathogenic 41251 rs281865550 GRCh37: 17:7606345-7606345
GRCh38: 17:7703027-7703027
4 WRAP53 NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) SNV Pathogenic 41252 rs281865547 GRCh37: 17:7592602-7592602
GRCh38: 17:7689284-7689284
5 WRAP53 NM_001143992.2(WRAP53):c.1554del (p.Trp518fs) Deletion Pathogenic 998383 GRCh37: 17:7606710-7606710
GRCh38: 17:7703392-7703392
6 WRAP53 NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) SNV Pathogenic 30975 rs281865548 GRCh37: 17:7606088-7606088
GRCh38: 17:7702770-7702770
7 WRAP53 NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) Duplication Pathogenic 843298 GRCh37: 17:7606714-7606715
GRCh38: 17:7703396-7703397
8 WRAP53 NM_001143992.2(WRAP53):c.1A>G (p.Met1Val) SNV Pathogenic 1028086 GRCh37: 17:7591967-7591967
GRCh38: 17:7688649-7688649
9 WRAP53 NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) Deletion Conflicting interpretations of pathogenicity 225516 rs755116516 GRCh37: 17:7606715-7606715
GRCh38: 17:7703397-7703397
10 WRAP53 NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly) SNV Uncertain significance 891911 GRCh37: 17:7606694-7606694
GRCh38: 17:7703376-7703376
11 WRAP53 NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) SNV Uncertain significance 325651 rs145760222 GRCh37: 17:7592153-7592153
GRCh38: 17:7688835-7688835
12 WRAP53 NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu) SNV Uncertain significance 890089 GRCh37: 17:7605012-7605012
GRCh38: 17:7701694-7701694
13 WRAP53 NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser) SNV Uncertain significance 325660 rs758704444 GRCh37: 17:7605682-7605682
GRCh38: 17:7702364-7702364
14 WRAP53 NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=) SNV Uncertain significance 325661 rs138784430 GRCh37: 17:7605741-7605741
GRCh38: 17:7702423-7702423
15 WRAP53 NM_001143992.2(WRAP53):c.834G>A (p.Thr278=) SNV Uncertain significance 325658 rs372166304 GRCh37: 17:7604986-7604986
GRCh38: 17:7701668-7701668
16 WRAP53 NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His) SNV Uncertain significance 325664 rs199522817 GRCh37: 17:7606605-7606605
GRCh38: 17:7703287-7703287
17 WRAP53 NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) SNV Uncertain significance 325654 rs147817526 GRCh37: 17:7592605-7592605
GRCh38: 17:7689287-7689287
18 WRAP53 NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) SNV Uncertain significance 325652 rs201340741 GRCh37: 17:7592361-7592361
GRCh38: 17:7689043-7689043
19 WRAP53 NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) SNV Uncertain significance 626052 rs776832907 GRCh37: 17:7592927-7592927
GRCh38: 17:7689609-7689609
20 WRAP53 NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) Deletion Uncertain significance 631791 rs764437508 GRCh37: 17:7591983-7591984
GRCh38: 17:7688665-7688666
21 WRAP53 NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) SNV Uncertain significance 744284 rs199901527 GRCh37: 17:7604136-7604136
GRCh38: 17:7700818-7700818
22 WRAP53 NM_001143992.2(WRAP53):c.1521C>T (p.His507=) SNV Uncertain significance 742999 rs146651237 GRCh37: 17:7606678-7606678
GRCh38: 17:7703360-7703360
23 WRAP53 NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser) SNV Uncertain significance 973617 GRCh37: 17:7606598-7606598
GRCh38: 17:7703280-7703280
24 WRAP53 NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp) SNV Uncertain significance 973618 GRCh37: 17:7606718-7606718
GRCh38: 17:7703400-7703400
25 WRAP53 NM_001143992.2(WRAP53):c.-2+2T>C SNV Uncertain significance 325649 rs886053517 GRCh37: 17:7591881-7591881
GRCh38: 17:7688563-7688563
26 WRAP53 NM_001143992.2(WRAP53):c.1403+6C>T SNV Uncertain significance 325663 rs886053518 GRCh37: 17:7606451-7606451
GRCh38: 17:7703133-7703133
27 WRAP53 NM_018081.2(WRAP53):c.-255G>A SNV Uncertain significance 325647 rs564330662 GRCh37: 17:7591712-7591712
GRCh38: 17:7688394-7688394
28 WRAP53 NM_001143992.2(WRAP53):c.822+10G>A SNV Uncertain significance 325656 rs372606750 GRCh37: 17:7604877-7604877
GRCh38: 17:7701559-7701559
29 WRAP53 NM_001143992.2(WRAP53):c.1269-13C>T SNV Uncertain significance 325662 rs371953585 GRCh37: 17:7606298-7606298
GRCh38: 17:7702980-7702980
30 WRAP53 NM_001143992.2(WRAP53):c.-52C>T SNV Uncertain significance 325648 rs79199718 GRCh37: 17:7591829-7591829
GRCh38: 17:7688511-7688511
31 WRAP53 NM_001143992.2(WRAP53):c.432-15C>G SNV Uncertain significance 889405 GRCh37: 17:7592527-7592527
GRCh38: 17:7689209-7689209
32 WRAP53 NM_001143992.2(WRAP53):c.643-4A>G SNV Uncertain significance 889406 GRCh37: 17:7604055-7604055
GRCh38: 17:7700737-7700737
33 WRAP53 NM_001143992.2(WRAP53):c.956-14C>T SNV Uncertain significance 890090 GRCh37: 17:7605648-7605648
GRCh38: 17:7702330-7702330
34 WRAP53 NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu) SNV Uncertain significance 890669 GRCh37: 17:7606164-7606164
GRCh38: 17:7702846-7702846
35 WRAP53 NM_001143992.2(WRAP53):c.-62C>T SNV Uncertain significance 891590 GRCh37: 17:7591819-7591819
GRCh38: 17:7688501-7688501
36 WRAP53 NM_001143992.2(WRAP53):c.-23C>G SNV Uncertain significance 891591 GRCh37: 17:7591858-7591858
GRCh38: 17:7688540-7688540
37 WRAP53 NM_001143992.2(WRAP53):c.-1-5T>C SNV Uncertain significance 891845 GRCh37: 17:7591961-7591961
GRCh38: 17:7688643-7688643
38 WRAP53 NM_001143992.2(WRAP53):c.-1-5T>G SNV Uncertain significance 891846 GRCh37: 17:7591961-7591961
GRCh38: 17:7688643-7688643
39 WRAP53 NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr) SNV Uncertain significance 891847 GRCh37: 17:7592072-7592072
GRCh38: 17:7688754-7688754
40 WRAP53 NM_001143992.2(WRAP53):c.330C>T (p.Asn110=) SNV Uncertain significance 891848 GRCh37: 17:7592296-7592296
GRCh38: 17:7688978-7688978
41 WRAP53 NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser) SNV Uncertain significance 891912 GRCh37: 17:7606784-7606784
GRCh38: 17:7703466-7703466
42 WRAP53 NM_001143992.2(WRAP53):c.823-10C>T SNV Likely benign 325657 rs117192546 GRCh37: 17:7604965-7604965
GRCh38: 17:7701647-7701647
43 WRAP53 NM_001143992.2(WRAP53):c.431+15C>T SNV Likely benign 325653 rs17880740 GRCh37: 17:7592412-7592412
GRCh38: 17:7689094-7689094
44 WRAP53 NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) SNV Likely benign 735242 rs148329158 GRCh37: 17:7606723-7606723
GRCh38: 17:7703405-7703405
45 WRAP53 NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) SNV Benign/Likely benign 619289 rs35307405 GRCh37: 17:7604852-7604852
GRCh38: 17:7701534-7701534
46 WRAP53 NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) SNV Benign/Likely benign 260997 rs35082161 GRCh37: 17:7606401-7606401
GRCh38: 17:7703083-7703083
47 WRAP53 NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) SNV Benign 260996 rs34016213 GRCh37: 17:7606350-7606350
GRCh38: 17:7703032-7703032
48 WRAP53 NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) SNV Benign 325659 rs73248508 GRCh37: 17:7605088-7605088
GRCh38: 17:7701770-7701770
49 TP53 , WRAP53 NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) SNV Benign 261003 rs2287498 GRCh37: 17:7592560-7592560
GRCh38: 17:7689242-7689242
50 TP53 , WRAP53 NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) SNV Benign 261001 rs2287499 GRCh37: 17:7592168-7592168
GRCh38: 17:7688850-7688850

UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, Autosomal Recessive 3:

72
# Symbol AA change Variation ID SNP ID
1 WRAP53 p.Phe164Leu VAR_065873 rs281865547
2 WRAP53 p.His376Tyr VAR_065874 rs281865549
3 WRAP53 p.Arg398Trp VAR_065875 rs281865548
4 WRAP53 p.Gly435Arg VAR_065876 rs281865550

Expression for Dyskeratosis Congenita, Autosomal Recessive 3

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Recessive 3.

Pathways for Dyskeratosis Congenita, Autosomal Recessive 3

Pathways related to Dyskeratosis Congenita, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.01 WRAP53 TP53

GO Terms for Dyskeratosis Congenita, Autosomal Recessive 3

Cellular components related to Dyskeratosis Congenita, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.96 WRAP53 TP53
2 site of double-strand break GO:0035861 8.62 WRAP53 TP53

Biological processes related to Dyskeratosis Congenita, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 8.96 WRAP53 TP53
2 cellular response to DNA damage stimulus GO:0006974 8.62 WRAP53 TP53

Molecular functions related to Dyskeratosis Congenita, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.96 WRAP53 TP53
2 chaperone binding GO:0051087 8.62 WRAP53 TP53

Sources for Dyskeratosis Congenita, Autosomal Recessive 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....