RPS28 gene related symptoms and diseases
All the information presented here about the RPS28 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPS28 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Macrocytic anemia | Very Common - Between 80% and 100% cases |
| Bifid uvula | Very Common - Between 80% and 100% cases |
| Micrognathia | Very Common - Between 80% and 100% cases |
| Cleft palate | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RPS28 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Anemia
Not very common - Between 30% and 50% cases
- Intellectual disability
- Abnormal facial shape
- Sensorineural hearing impairment
- Hearing impairment
- Global developmental delay
- Fetal distress
- Persistence of hemoglobin F
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPS28 gene
Here you will find a list of rare diseases related to the RPS28. 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 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
Most common symptoms of DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Micrognathia
More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
SOURCES: OMIM
Search interest in RPS28
Potential gene panels for RPS28 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 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 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 type 15 with mandibulofacial dysostosis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RPS28 gene.
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.
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.
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