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  2. Rare Disease Genes
  3. CASTOR3

CASTOR3 gene related symptoms and diseases

All the information presented here about the CASTOR3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CASTOR3 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Carcinoma Very Common - Between 80% and 100% cases
Amenorrhea Very Common - Between 80% and 100% cases
Primary amenorrhea Very Common - Between 80% and 100% cases
Premature ovarian insufficiency Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CASTOR3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Ovarian neoplasm
  • Increased circulating gonadotropin level
  • Gonadoblastoma
  • Dysgerminoma
  • Choriocarcinoma

Rare diseases associated to CASTOR3 gene

Here you will find a list of rare diseases related to the CASTOR3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PREMATURE OVARIAN FAILURE 8; POF8

Description

Premature ovarian failure (POF), the endpoint of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with POF present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (more than 40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis (see {233300}). In approximately 10 to 15% of patients with POF, a genetic cause has been determined (summary by Caburet et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).

Most common symptoms of PREMATURE OVARIAN FAILURE 8; POF8

  • Neoplasm
  • Carcinoma
  • Amenorrhea
  • Primary amenorrhea
  • Premature ovarian insufficiency


More info about PREMATURE OVARIAN FAILURE 8; POF8

SOURCES: OMIM



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