PTPN14 gene related symptoms and diseases
All the information presented here about the PTPN14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PTPN14 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| High palate | Very Common - Between 80% and 100% cases |
| Pectus excavatum | Very Common - Between 80% and 100% cases |
| Choanal atresia | Very Common - Between 80% and 100% cases |
| Lymphedema | Very Common - Between 80% and 100% cases |
| Pericardial effusion | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PTPN14 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypoplastic nipples
- Posterior choanal atresia
Rare diseases associated to PTPN14 gene
Here you will find a list of rare diseases related to the PTPN14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME
Most common symptoms of LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME
- High palate
- Pectus excavatum
- Choanal atresia
- Lymphedema
- Pericardial effusion
More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME
Search interest in PTPN14
Potential gene panels for PTPN14 gene
NGS Vascular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1
More info about this panel United States.
Lymphedema NGS Multi-Gene Panel (36 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1
More info about this panel Netherlands.
Lymphedema Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Lymphedema Sequencing Panel with CNV Detection that also includes the following genes: SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 GJA1
More info about this panel United States.
Choanal atresia and lymphedema Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PTPN14 gene.
More info about this panel Germany.
Hereditary hemorrhagic telangiectasia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Hereditary hemorrhagic telangiectasia panel that also includes the following genes: ACVRL1 ADAM17 ENG GDF2 SMAD4 PTPN14 RASA1
More info about this panel Germany.
Primary lymphedema and Hydrops fetalis Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc Primary lymphedema and Hydrops fetalis that also includes the following genes: SOS1 SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 EPHB4 FLT4 FOXC2
More info about this panel Belgium.
PTPN14 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PTPN14 gene.
More info about this panel United States.
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