Dyskeratosis Congenita, Autosomal Recessive 3; Dkcb3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (OMIM ).

Genes related to Dyskeratosis Congenita, Autosomal Recessive 3; Dkcb3

WRAP53

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Clinical Features

Top most frequent phenotypes and symptoms related to Dyskeratosis Congenita, Autosomal Recessive 3; Dkcb3

Neoplasm
Carcinoma
Nail dystrophy
Abnormality of skin pigmentation
Nail dysplasia
Pancytopenia
Bone marrow hypocellularity
Squamous cell carcinoma
Pulmonary fibrosis
Oral leukoplakia

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Dyskeratosis Congenita, Autosomal Recessive 3; Dkcb3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Telomere Shortening Disorders Spectrum NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). TERC, TERT, TINF2, NHP2, NOP10, WRAP53, CTC1, DKC1 Specificity 13 % Genes 100 %
Bone Marrow Failure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...) View the complete list with 23 more genes Panel complete gene list RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS, BRIP1, FANCL, FANCM, SLX4, WRAP53, FANCI, USB1, PALB2, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, GATA1, MPL, NBN, PRF1, RAD51C Specificity 3 % Genes 100 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...) View the complete list with 40 more genes Panel complete gene list RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10, VPS45, RTEL1, HAX1, SBDS, LYST, BRIP1, FANCL, VPS13B, FANCM, SLX4, CSF3R, G6PC3, WRAP53, FANCI, CXCR4, USB1, PALB2, DKC1, LAMTOR2, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, SLC37A4, GATA1, GATA2, GFI1, AP3B1, MPL, RAB27A, RAC2, RAD51C, RBM8A Specificity 2 % Genes 100 %
Dyskeratosis Congenita panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TERC, TERT, TINF2, NHP2, NOP10, RTEL1, WRAP53, DKC1 Specificity 13 % Genes 100 %
WRAP53 (WDR79, TCAB1) sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). WRAP53 Specificity 100 % Genes 100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...) View the complete list with 36 more genes Panel complete gene list RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10, VPS45, RTEL1, HAX1, LYST, BRIP1, FANCL, VPS13B, FANCM, SLX4, CSF3R, G6PC3, WRAP53, FANCI, CXCR4, USB1, PALB2, DKC1, LAMTOR2, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, SLC37A4, GATA1, GATA2, GFI1, AP3B1, MPL, RAB27A, RAC2, RAD51C, RBM8A Specificity 2 % Genes 100 %
Dyskeratosis Congenita Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TERC, TERT, TINF2, NHP2, NOP10, RTEL1, WRAP53, DKC1 Specificity 13 % Genes 100 %
WRAP53 (WDR79, TCAB1) Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). WRAP53 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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