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

SOURCES: ORPHANET OMIM


Potential gene panels for RSPRY1 gene

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

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 panel
United States.

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

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 panel
United States.

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

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 panel
United States.

Mental retardation - different panels Panel

Germany.

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 panel
Germany.

RSPRY1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RSPRY1 gene.

More info about this panel
United States.

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