CDIPT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CDIPT gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Scoliosis Very Common - Between 80% and 100% cases
Short neck Very Common - Between 80% and 100% cases
Severe short stature Very Common - Between 80% and 100% cases
Pectus carinatum Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Abnormality of the ribs
  • Abnormal vertebral morphology
  • Hemivertebrae
  • Vertebral fusion
  • Syringomyelia
  • Missing ribs
  • Disproportionate short-trunk short stature
  • Low back pain

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CDIPT gene

Here you will find a list of rare diseases related to the CDIPT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5


Alternate names

SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5 Is also known as costovertebral segmentation anomalies, scoliosis, congenital, with or without rib anomalies, spondylocostal dysplasia, spondylothoracic dysostosis

Most common symptoms of SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5

  • Short stature
  • Scoliosis
  • Short neck
  • Severe short stature
  • Pectus carinatum


More info about SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5

SOURCES: OMIM


Potential gene panels for CDIPT gene

CDIPT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDIPT gene.

More info about this panel


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