MCID: DYS150
MIFTS: 29

Dyskeratosis Congenita, Autosomal Recessive 3

Categories: Genetic diseases, Skin diseases, Blood diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Immune 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 75 29 6 73
Dkcb3 57 12 75
Dyskeratosis Congenita, Autosomal Recessive, Type 3 40
Autosomal Recessive Dyskeratosis Congenita 3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
dyskeratosis congenita, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613988
Disease Ontology 12 DOID:0070019
MedGen 42 C3151442
MeSH 44 D019871
UMLS 73 C3151442

Summaries for Dyskeratosis Congenita, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 75 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 li-fraumeni syndrome and dyskeratosis congenita. 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, bone and skin, and related phenotypes are abnormality of skin pigmentation and pancytopenia

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)

Related Diseases for Dyskeratosis Congenita, Autosomal Recessive 3

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Recessive 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
leukoplakia

Neoplasia:
squamous cell carcinoma

Hematology:
bone marrow failure
pancytopenia

Laboratory Abnormalities:
shortened telomeres


Clinical features from OMIM:

613988

Human phenotypes related to Dyskeratosis Congenita, Autosomal Recessive 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of skin pigmentation 32 HP:0001000
2 pancytopenia 32 HP:0001876
3 nail dysplasia 32 HP:0002164
4 squamous cell carcinoma 32 HP:0002860
5 bone marrow hypocellularity 32 HP:0005528
6 nail dystrophy 32 HP:0008404

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:

41
Bone Marrow, Bone, Skin, Liver, Lung

Publications for Dyskeratosis Congenita, Autosomal Recessive 3

Variations for Dyskeratosis Congenita, Autosomal Recessive 3

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WRAP53 NM_018081.2(WRAP53): c.1192C> T (p.Arg398Trp) single nucleotide variant Pathogenic rs281865548 GRCh37 Chromosome 17, 7606088: 7606088
2 WRAP53 NM_018081.2(WRAP53): c.1192C> T (p.Arg398Trp) single nucleotide variant Pathogenic rs281865548 GRCh38 Chromosome 17, 7702770: 7702770
3 WRAP53 NM_018081.2(WRAP53): c.1126C> T (p.His376Tyr) single nucleotide variant Pathogenic rs281865549 GRCh37 Chromosome 17, 7605832: 7605832
4 WRAP53 NM_018081.2(WRAP53): c.1126C> T (p.His376Tyr) single nucleotide variant Pathogenic rs281865549 GRCh38 Chromosome 17, 7702514: 7702514
5 WRAP53 NM_018081.2(WRAP53): c.1303G> A (p.Gly435Arg) single nucleotide variant Pathogenic rs281865550 GRCh37 Chromosome 17, 7606345: 7606345
6 WRAP53 NM_018081.2(WRAP53): c.1303G> A (p.Gly435Arg) single nucleotide variant Pathogenic rs281865550 GRCh38 Chromosome 17, 7703027: 7703027
7 WRAP53 NM_018081.2(WRAP53): c.492C> A (p.Phe164Leu) single nucleotide variant Likely pathogenic rs281865547 GRCh37 Chromosome 17, 7592602: 7592602
8 WRAP53 NM_018081.2(WRAP53): c.492C> A (p.Phe164Leu) single nucleotide variant Likely pathogenic rs281865547 GRCh38 Chromosome 17, 7689284: 7689284
9 WRAP53 NM_001143990.1(WRAP53): c.1564delG (p.Ala522Argfs) deletion Uncertain significance rs1085307105 GRCh37 Chromosome 17, 7606721: 7606721
10 WRAP53 NM_001143990.1(WRAP53): c.1564delG (p.Ala522Argfs) deletion Uncertain significance rs1085307105 GRCh38 Chromosome 17, 7703403: 7703403

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 TP53 WRAP53

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 8.62 TP53 WRAP53

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 8.62 EFNB3 TP53

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

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 8.62 TP53 WRAP53

Sources for Dyskeratosis Congenita, Autosomal Recessive 3

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
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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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