RPL11 gene related symptoms and diseases

All the information presented here about the RPL11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RPL11 gene

Symptoms // Phenotype % Cases
Macrocytic anemia Very Common - Between 80% and 100% cases
Neutropenia Very Common - Between 80% and 100% cases
Tetralogy of Fallot Very Common - Between 80% and 100% cases
Triphalangeal thumb Very Common - Between 80% and 100% cases
Fetal distress Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RPL11 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Reticulocytopenia
  • Osteoporosis
  • Patent ductus arteriosus
  • Increased mean corpuscular volume
  • Growth delay
  • Ventricular septal defect
  • Esophagitis
  • Intrauterine growth retardation

And 50 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RPL11 gene

Here you will find a list of rare diseases related to the RPL11. 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

SOURCES: ORPHANET OMIM

DIAMOND-BLACKFAN ANEMIA 7; DBA7

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 Diamond-Blackfan anemia, see DBA1 (OMIM ).

Most common symptoms of DIAMOND-BLACKFAN ANEMIA 7; DBA7

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

SOURCES: OMIM MESH


Potential gene panels for RPL11 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.

RPL11 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 RPL11 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.

RPL11 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 RPL11 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.

RPL11 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the RPL11 gene.

More info about this panel
United States.

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.

RPL11 gene sequence Panel

United States.

By Ambry Genetics

This panel specifically test the RPL11 gene.

More info about this panel
United States.

RPL11. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RPL11 gene.

More info about this panel
Spain.

Diamond-Blackfan anemia type 7 (sequence analysis of RPL11 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RPL11 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 RPL11 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RPL11 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 7 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RPL11 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.

RPL11 - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the RPL11 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.

RPL11 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RPL11 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 7 Panel

Spain.

By Bioarray

This panel specifically test the RPL11 gene.

More info about this panel
Spain.

Blackfan-Diamond Anemia Panel

Spain.

By Bioarray

This panel specifically test the RPL11 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.

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 RPL11 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RPL11 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.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ACD TBCD TUBGCP6 EPHX1 SERPINA1 MYBL1 ZNF507