Diamond-blackfan Anemia 1; Dba1
Description
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).
Clinical Features
Top most frequent phenotypes and symptoms related to Diamond-blackfan Anemia 1; Dba1
- Intellectual disability
- Short stature
- Microcephaly
- Growth delay
- Hypertelorism
- Failure to thrive
- Micrognathia
- Strabismus
- Cleft palate
- Anemia
And another 68 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.
Alternative names
Diamond-blackfan Anemia 1; Dba1 Is also known as red cell aplasia, pure, hereditary, anemia, congenital erythroid hypoplastic, dba, blackfan-diamond syndrome, anemia, congenital hypoplastic, of blackfan and diamond, bds, erythrogenesis imperfecta, aase-smith syndrome ii, aregenerative anemia, chronic congenital.
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.Diamond-blackfan Anemia 1; Dba1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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RPS19 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
RPS19 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
RPS19 Deletion/Duplication Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
RPS19 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
RPS19 Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
RPS19 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
Non-immune Hydrops Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
3 %
Genes
67 % |
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
5 %
Genes
67 % |
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Learn moreSources and references
You can check the following sources for additional information.
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