RPL5 gene related symptoms and diseases
All the information presented here about the RPL5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPL5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Retrognathia | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Persistence of hemoglobin F | Very Common - Between 80% and 100% cases |
| Reticulocytopenia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RPL5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased mean corpuscular volume
- Macrocytic anemia
- Triphalangeal thumb
- Abnormality of the hand
- Short thumb
- Neutropenia
- Cleft upper lip
- Pallor
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPL5 gene
Here you will find a list of rare diseases related to the RPL5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLACKFAN-DIAMOND ANEMIA
Alternate names
BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type, congenital pure red cell aplasia, aase-smith syndrome ii, congenital prca, aase-smith ii syndrome, aase syndrome
Description
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Most common symptoms of BLACKFAN-DIAMOND ANEMIA
- Short stature
- Growth delay
- Hypertelorism
- Neoplasm
- Failure to thrive
More info about BLACKFAN-DIAMOND ANEMIA
DIAMOND-BLACKFAN ANEMIA 1; DBA1
Alternate 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
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).
Most common symptoms of DIAMOND-BLACKFAN ANEMIA 1; DBA1
- Intellectual disability
- Short stature
- Microcephaly
- Growth delay
- Hypertelorism
More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1
SOURCES: OMIM
Search interest in RPL5
Potential gene panels for RPL5 gene
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
Bone Marrow Failure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7
More info about this panel United States.
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panel United States.
RPL5 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the RPL5 gene.
More info about this panel United States.
Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
RPL5 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the RPL5 gene.
More info about this panel United States.
Diamond-Blackfan anemia panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Diamond-Blackfan anemia panel by next-generation sequencing (NGS) that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
Diamond-Blackfan Anemia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Diamond-Blackfan Anemia Deletion/Duplication Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 GATA1
More info about this panel United States.
Inherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Diamond-Blackfan Anemia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Diamond-Blackfan Anemia Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
RPL5 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the RPL5 gene.
More info about this panel United States.
Diamond-Blackfan Anemia Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Diamond-Blackfan Anemia that also includes the following genes: RPL35A RPL5 RPS11 RPS17 RPS19 RPS26
More info about this panel United Kingdom.
DBANext Panel
United States.
By Ambry Genetics DBANext that also includes the following genes: RPL11 RPL19 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
RPL5 gene sequence Panel
United States.
By Ambry Genetics
This panel specifically test the RPL5 gene.
More info about this panel United States.
RPL5. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RPL5 gene.
More info about this panel Spain.
Diamond-Blackfan anemia type 6 (sequence analysis of RPL5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RPL5 gene.
More info about this panel Portugal.
Diamond-Blackfan anemia (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Portugal.
Diamond-Blackfan anemia (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Portugal.
Diamond-Blackfan Anemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Diamond-Blackfan Anemia Sequencing Panel with CNV Detection that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
Diamond-Blackfan Anemia and Bone Marrow Failure via RPL5 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RPL5 gene.
More info about this panel United States.
Diamond-Blackfan anemia NGS panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia NGS panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
Diamond-Blackfan anemia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia Deletion / Duplication panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
Diamond-Blackfan anemia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Diamond-Blackfan anemia Comprehensive panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel United States.
Diamond-Blackfan anemia 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RPL5 gene.
More info about this panel Germany.
Erythrocytes, Anemia Panel Panel
Germany.
By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B
More info about this panel Germany.
NGS Panel for Diamond-Blackfan Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Diamond-Blackfan Anemia that also includes the following genes: RPL11 RPL15 RPL19 RPL26 RPL27 RPL31 RPL35A RPL5 RPL9 RPS10
More info about this panel Spain.
Invitae Diamond-Blackfan Anemia Panel Panel
United States.
By Invitae Invitae Diamond-Blackfan Anemia Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 GATA1
More info about this panel United States.
Invitae Bone Marrow Failure Syndromes Panel Panel
United States.
By Invitae Invitae Bone Marrow Failure Syndromes Panel that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1
More info about this panel United States.
Diamond Blackfan Anemia:RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and RPS7 genes sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diamond Blackfan Anemia:RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and RPS7 genes sequence analysis that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS24 RPS26 RPS7
More info about this panel Spain.
BLACKFAN-DIAMON, ANEMIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BLACKFAN-DIAMON, ANEMIA that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7
More info about this panel Spain.
RPL5 - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the RPL5 gene.
More info about this panel Netherlands.
Blackfan-Diamond anemia - Sequencing Panel Panel
Netherlands.
By Genome Diagnostics VU University Medical Center Blackfan-Diamond anemia - Sequencing Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7
More info about this panel Netherlands.
Diamond-Blackfan Anemia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Diamond-Blackfan Anemia NGS Panel that also includes the following genes: RPL11 RPL19 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
RPL5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RPL5 gene.
More info about this panel United States.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Diamond-Blackfan Anemia Panel Panel
Finland.
By Blueprint Genetics Diamond-Blackfan Anemia Panel that also includes the following genes: RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29 RPS7
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Anemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Diamond-Blackfan anemia 6 Panel
Spain.
By Bioarray
This panel specifically test the RPL5 gene.
More info about this panel Spain.
Inherited Bone Marrow Failure Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
BLACKFAN-DIAMOND ANEMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL BLACKFAN-DIAMOND ANEMIA that also includes the following genes: RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7
More info about this panel Spain.
BLACKFAN-DIAMOND ANEMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BLACKFAN-DIAMOND ANEMIA: NGS PANEL that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panel Spain.
Diamond-Blackfan Anemia, Sequencing RPL5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RPL5 gene.
More info about this panel Spain.
Diamond-Blackfan Anemia, Panel Deletions-Duplications (MLPA) RPL35A, RPS17, RPL11, RPL5, RPS26, RPS19 Genes Panel
Spain.
By Reference Laboratory Genetics Diamond-Blackfan Anemia, Panel Deletions-Duplications (MLPA) RPL35A, RPS17, RPL11, RPL5, RPS26, RPS19 Genes that also includes the following genes: RPL11 RPL35A RPL5 RPS17 RPS19 RPS26
More info about this panel Spain.
Diamond-Blackfan Anemia, Sequencing RPL5,RPS10,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7 Genes Panel
Spain.
By Reference Laboratory Genetics Diamond-Blackfan Anemia, Sequencing RPL5,RPS10,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7 Genes that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS24 RPS26 RPS7
More info about this panel Spain.
Diamond-Blackfan Anemia, Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Diamond-Blackfan Anemia, Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7
More info about this panel Spain.
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
Spain.
By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel Spain.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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