Dyskeratosis Congenita, Autosomal Recessive 2; Dkcb2
Description
Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).
Genes related to Dyskeratosis Congenita, Autosomal Recessive 2; Dkcb2
- NHP2
Clinical Features
Top most frequent phenotypes and symptoms related to Dyskeratosis Congenita, Autosomal Recessive 2; Dkcb2
- Intellectual disability
- Growth delay
- Neoplasm
- Thrombocytopenia
- Nail dystrophy
- Cirrhosis
- Nail dysplasia
- Cerebral calcification
- Pancytopenia
- Bone marrow hypocellularity
And another 2 symptoms. If you need more information about this disease we can help you.
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 2; Dkcb2 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
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
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 % |
NOLA2 (NHP2) Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
NHP2
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
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 % |
NOLA2 (NHP2) Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
NHP2
Specificity
100 %
Genes
100 % |
You can get up to 35 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VISCERAL MYOPATHY; VSCM MYOPATHY, MYOFIBRILLAR, 1; MFM1 HYPERLYSINEMIA, TYPE I BARDET-BIEDL SYNDROME 7; BBS7 GLYCOGEN STORAGE DISEASE Ib; GSD1B MUCKLE-WELLS SYNDROME; MWS MYOPATHY, MYOFIBRILLAR, 2; MFM2