Dyskeratosis Congenita, Autosomal Dominant 2; Dkca2
Description
Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).
Genes related to Dyskeratosis Congenita, Autosomal Dominant 2; Dkca2
- TERT
Clinical Features
Top most frequent phenotypes and symptoms related to Dyskeratosis Congenita, Autosomal Dominant 2; Dkca2
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
- Failure to thrive
- Anemia
- Cardiomyopathy
- Diarrhea
- Abnormality of the dentition
- Thrombocytopenia
And another 22 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 Dominant 2; Dkca2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
![]() By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
SFTPA2, SFTPB, SFTPC, SLC7A7, TERC, TERT, TINF2, NKX2-1, HPS4, CSF2RA, CSF2RB, DKC1, ABCA3, FOXF1, HPS1, AP3B1
Specificity
7 %
Genes
100 % |
![]() By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
TERC, TERT, TINF2, NHP2, NOP10, WRAP53, CTC1, DKC1
Specificity
13 %
Genes
100 % |
![]() By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
SFTPA2, SFTPC, TERC, TERT, TINF2, NKX2-1, HPS4, DKC1, ABCA3, HPS1, AP3B1
Specificity
10 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
You can get up to 115 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 LHERMITTE-DUCLOS DISEASE AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC CAUDAL REGRESSION SEQUENCE CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U POLYCYSTIC LIVER DISEASE 1; PCLD1