RPS17 gene related symptoms and diseases

All the information presented here about the RPS17 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RPS17 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Anemia Very Common - Between 80% and 100% cases
Neutropenia Very Common - Between 80% and 100% cases
Macrocytic anemia Very Common - Between 80% and 100% cases
Atrial septal defect Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RPS17 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Increased mean corpuscular volume
  • Growth delay
  • Reticulocytopenia
  • Not very common - Between 30% and 50% cases

  • Abnormality of the urinary system
  • Thick lower lip vermilion
  • Hernia
  • Depressed nasal ridge
  • Mitral regurgitation

And 37 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RPS17 gene

Here you will find a list of rare diseases related to the RPS17. 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 4; DBA4


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 4; DBA4

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Atrial septal defect


More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

SOURCES: MESH OMIM


Potential gene panels for RPS17 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

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

RPS17 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 RPS17 gene.

More info about this panel

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

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

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

RPS17. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RPS17 gene.

More info about this panel

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

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

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

Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS17 Gene Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RPS17 gene.

More info about this panel

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

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

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

Diamond-Blackfan anemia 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RPS17 gene.

More info about this panel

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

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

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

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

RPS17 - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the RPS17 gene.

More info about this panel

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

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

Diamond-Blackfan anemia 4 Panel

Spain.

By Bioarray

This panel specifically test the RPS17 gene.

More info about this panel

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

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

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

Diamond-Blackfan Anemia, Sequencing RPS17 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RPS17 gene.

More info about this panel

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

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

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

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


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