SAP30L gene related symptoms and diseases
All the information presented here about the SAP30L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SAP30L gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Very Common - Between 80% and 100% cases |
Alopecia of scalp | Very Common - Between 80% and 100% cases |
Enlarged ovaries | Very Common - Between 80% and 100% cases |
Conjunctival hyperemia | Very Common - Between 80% and 100% cases |
Hypopnea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SAP30L gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Frontal balding
- Enlarged polycystic ovaries
- Prostate cancer
- Menstrual irregularities
- Abnormality of the ovary
- Adrenal hyperplasia
- Prolactin excess
- Increased reactive oxygen species production
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SAP30L gene
Here you will find a list of rare diseases related to the SAP30L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
Search interest in SAP30L
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