RPS27 gene related symptoms and diseases

All the information presented here about the RPS27 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RPS27 gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormality of the hand Uncommon - Between 30% and 50% cases
Mitral valve prolapse Uncommon - Between 30% and 50% cases
Ventricular hypertrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RPS27 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Thick lower lip vermilion
  • Depressed nasal ridge
  • Mitral regurgitation
  • Abnormality of the genital system
  • Short thumb
  • Melanoma
  • Abnormality of the urinary system
  • Triphalangeal thumb

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to RPS27 gene

Here you will find a list of rare diseases related to the RPS27. 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 17; DBA17


Most common symptoms of DIAMOND-BLACKFAN ANEMIA 17; DBA17

  • Anemia
  • Hyperpigmentation of the skin


More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

SOURCES: OMIM


Potential gene panels for RPS27 gene

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 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

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

RPS27 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RPS27 gene.

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COASY GATA2 PSTPIP1 SPOP ERC1 SRPX2 PDZD7

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more