PRLR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PRLR gene

Symptoms // Phenotype % Cases
Osteoporosis Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Infertility Uncommon - Between 30% and 50% cases
Amenorrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PRLR gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Menorrhagia
  • Hypopituitarism
  • Oligomenorrhea
  • Prolactin excess
  • Galactorrhea
  • Female hypogonadism
  • Hemorrhagic ovarian cyst

Rare diseases associated to PRLR gene

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


FAMILIAL HYPERPROLACTINEMIA

Alternate names

FAMILIAL HYPERPROLACTINEMIA Is also known as familial isolated prolactin receptor deficiency

Description

Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.

Most common symptoms of FAMILIAL HYPERPROLACTINEMIA

  • Osteoporosis
  • Hypogonadism
  • Osteopenia
  • Infertility
  • Amenorrhea


More info about FAMILIAL HYPERPROLACTINEMIA

SOURCES: ORPHANET OMIM

MULTIPLE FIBROADENOMA OF THE BREAST

Alternate names

MULTIPLE FIBROADENOMA OF THE BREAST Is also known as mammary polyadenomatosis

Description

Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.


More info about MULTIPLE FIBROADENOMA OF THE BREAST

SOURCES: ORPHANET OMIM


Potential gene panels for PRLR gene

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel
United States.

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel
United States.

PRLR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRLR gene.

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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