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.
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
Search interest in CDIPT
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 United States.
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