FSHR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to FSHR gene

Symptoms // Phenotype % Cases
Increased circulating gonadotropin level Common - Between 50% and 80% cases
Gonadal dysgenesis Uncommon - Between 30% and 50% cases
Abnormality of metabolism/homeostasis Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Enlarged polycystic ovaries Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Primary amenorrhea
  • Secondary amenorrhea
  • Neoplasm
  • Amenorrhea
  • Hirsutism
  • Infertility
  • Rarely - Less than 30% cases

  • Osteopenia
  • Delayed skeletal maturation

And 65 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FSHR gene

Here you will find a list of rare diseases related to the FSHR. 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

SOURCES: OMIM MESH

OVARIAN HYPERSTIMULATION SYNDROME


Alternate names

OVARIAN HYPERSTIMULATION SYNDROME Is also known as ovarian hyperstimulation syndrome, familial gestational spontaneous, ohss

Description

A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.

Most common symptoms of OVARIAN HYPERSTIMULATION SYNDROME

  • Abdominal pain
  • Nausea and vomiting
  • Infertility
  • Nausea
  • Hirsutism


More info about OVARIAN HYPERSTIMULATION SYNDROME

SOURCES: ORPHANET MESH OMIM

46,XX GONADAL DYSGENESIS


Alternate names

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis, 46,xx pure gonadal dysgenesis, 46,xx complete gonadal dysgenesis, follicular stimulating hormone-resistant ovaries, hypergonadotropic ovarian dysgenesis, xx-gd, 46,xx ovarian dysgenesis, fsh-ro

Description

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

Most common symptoms of 46,XX GONADAL DYSGENESIS

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


More info about 46,XX GONADAL DYSGENESIS

SOURCES: ORPHANET

OVARIAN DYSGENESIS 1; ODG1


Alternate names

OVARIAN DYSGENESIS 1; ODG1 Is also known as gonadal dysgenesis, xx type, xxgd, ovarian dysgenesis, hypergonadotropic, with normal karyotype, ovarian dysgenesis, hypergonadotropic, autosomal recessive, ovarian failure, hypergonadotropic, xx gonadal dysgenesis

Description

Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Genetic Heterogeneity of Ovarian DysgenesisEven in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 (OMIM ), caused by mutation in the BMP15 gene (OMIM ); ODG3 (OMIM ), caused by mutation in the PSMC3IP gene (OMIM ); ODG4 (OMIM ), caused by mutation in the MCMDC1 gene (OMIM ); ODG5 (OMIM ), caused by mutation in the SOHLH1 gene (OMIM ); ODG6 (OMIM ), caused by mutation in the NUP107 gene (OMIM ); and ODG7 (OMIM ), caused by mutation in the MRPS22 gene (OMIM ).See also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome (OMIM ).

Most common symptoms of OVARIAN DYSGENESIS 1; ODG1

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Osteoporosis
  • Amenorrhea


More info about OVARIAN DYSGENESIS 1; ODG1

SOURCES: OMIM

TWINNING, DIZYGOTIC



More info about TWINNING, DIZYGOTIC

SOURCES: OMIM


Potential gene panels for FSHR gene

Premature Ovarian Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Premature Ovarian Failure Sequencing Panel that also includes the following genes: BMP15 FOXL2 MCM8 PSMC3IP HFM1 NOBOX FIGLA FSHR LMNA NR5A1

More info about this panel

Premature Ovarian Failure Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Premature Ovarian Failure Deletion/Duplication Panel that also includes the following genes: BMP15 FOXL2 MCM8 PSMC3IP HFM1 NOBOX FIGLA FSHR LMNA NR5A1

More info about this panel

FSHR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FSHR gene.

More info about this panel

46,XX gonadal dysgenesis (sequence analysis of FSHR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FSHR gene.

More info about this panel

46,XX gonadal dysgenesis (FSH receptor polymorphisms) Panel

Portugal.

By CGC Genetics

This panel specifically test the FSHR gene.

More info about this panel

Ovarian Dysgenesis 1 Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the FSHR gene.

More info about this panel

Ovarian Dysgenesis and Ovarian Hyperstimulation Syndrome via FSHR Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FSHR gene.

More info about this panel

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

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

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

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA

More info about this panel

Ovarian dysgenesis 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FSHR gene.

More info about this panel

Infertility panel Panel

Germany.

By Centogene AG - the Rare Disease Company Infertility panel that also includes the following genes: FSHB FSHR LHB LHCGR

More info about this panel

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

FSHR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FSHR gene.

More info about this panel

Premature Ovarian Failure Panel Panel

Finland.

By Blueprint Genetics Premature Ovarian Failure Panel that also includes the following genes: BMP15 FOXL2 STAR WT1 NOBOX CYP17A1 CYP19A1 FSHR GALT GNAS

More info about this panel

Ovarian dysgenesis 1 Panel

Spain.

By Bioarray

This panel specifically test the FSHR gene.

More info about this panel

PRIMARY OVARIAN FAILURE Panel

Spain.

By Laboratorio de Genetica Clinica SL PRIMARY OVARIAN FAILURE that also includes the following genes: BMP15 FOXL2 DIAPH2 FSHR

More info about this panel

Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP15 FOXL2 STAR WNT4 POF1B PSMC3IP NOBOX FIGLA CYP17A1 CYP19A1

More info about this panel

Ovarian dysgenesis 1 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the FSHR gene.

More info about this panel

Phosphorus Male Infertility Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Male Infertility Panel that also includes the following genes: SRY AURKC USP9Y CATSPER1 CFTR DPY19L2 FSHB FSHR AR LHCGR

More info about this panel

Phosphorus Female Infertility Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1

More info about this panel

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

Male infertility genetic testing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Male infertility genetic testing that also includes the following genes: CATSPER1 CFTR FSHR AR LHCGR

More info about this panel

Female infertility genetic testing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Female infertility genetic testing that also includes the following genes: BMP15 ZP1 FMR1 FSHR LHB LHCGR

More info about this panel

Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis that also includes the following genes: BMP15 FOXL2 POF1B PSMC3IP HFM1 NOBOX FIGLA CYP17A1 CYP19A1 DIAPH2

More info about this panel


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