Diamond-blackfan Anemia 12; Dba12

Table of contents:

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

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).For a discussion of genetic heterogeneity of DBA, see DBA1 (OMIM ).

Genes related to Diamond-blackfan Anemia 12; Dba12

RPL15

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Diamond-blackfan Anemia 12; Dba12

Growth delay
Anemia
Ventricular septal defect
Triphalangeal thumb
Macrocytic anemia
Increased mean corpuscular volume
Reticulocytopenia
Normochromic anemia
Elevated red cell adenosine deaminase activity

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.

Diamond-blackfan Anemia 12; Dba12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Diamond-Blackfan anemia 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). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, GATA1 Specificity 9 % Genes 100 %
RPL15 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RPL15 Specificity 100 % Genes 100 %
Inherited Bone Marrow Failure Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...) View the complete list with 41 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L, NHP2, NOP10, VPS45, RTEL1, HAX1, POT1, SBDS, BRIP1, FANCL, SBF2, FANCM, SLX4, CSF3R, G6PC3, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MPL, PARN, RAD51C, RBM8A Specificity 2 % Genes 100 %
Diamond-Blackfan Anemia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, GATA1 Specificity 10 % Genes 100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...) View the complete list with 58 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS, IKZF1, SAMD9, SAMD9L, NHP2, NOP10, VPS45, CBL, RTEL1, HAX1, POT1, CEBPA, SBDS, BRIP1, FANCL, SBF2, SLX4, CSF3R, G6PC3, UBE2T, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ANKRD26, ELANE, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MLH1, MPL, MSH2, MSH6, NBN, NF1, ATM, PARN, PAX5, PMS2, PTPN11, RAD51, RAD51C, RBM8A Specificity 2 % Genes 100 %
Diamond-Blackfan anemia (NGS panel of 18 genes). By CGC Genetics (Portugal). RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1 Specificity 6 % Genes 100 %
Diamond-Blackfan anemia (NGS panel of 18 genes). By CGC Genetics (Portugal). RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1 Specificity 6 % 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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