RSPRY1 gene related symptoms and diseases
All the information presented here about the RSPRY1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RSPRY1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Femoral bowing | Very Common - Between 80% and 100% cases |
Short palm | Very Common - Between 80% and 100% cases |
Thick vermilion border | Very Common - Between 80% and 100% cases |
Short metacarpal | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RSPRY1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased body weight
- Coxa vara
- Tented upper lip vermilion
- Rocker bottom foot
- Overlapping toe
- Short femoral neck
- Slender long bone
- Microtia
And 37 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RSPRY1 gene
Here you will find a list of rare diseases related to the RSPRY1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME
Alternate names
PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis
Most common symptoms of PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME
- Intellectual disability
- Short stature
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME
Search interest in RSPRY1
Potential gene panels for RSPRY1 gene
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelSpondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelSpondylo-Epi-Metaphyseal dysplasias NGS panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelRSPRY1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RSPRY1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TANGO2 PIEZO1 SYNE2 DOP1A HLA-B ZBTB16 RSPH4A