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.
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
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
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
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).
Most common symptoms of OVARIAN DYSGENESIS 1; ODG1
- Hearing impairment
- Neoplasm
- Sensorineural hearing impairment
- Osteoporosis
- Amenorrhea
SOURCES: OMIM
TWINNING, DIZYGOTIC
SOURCES: OMIM
Search interest in FSHR
Potential gene panels for FSHR gene
Premature Ovarian Failure Sequencing Panel Panel
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 panelPremature Ovarian Failure Deletion/Duplication Panel Panel
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 panelFSHR. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FSHR gene.
More info about this panel46,XX gonadal dysgenesis (sequence analysis of FSHR gene) Panel
By CGC Genetics
This panel specifically test the FSHR gene.
More info about this panel46,XX gonadal dysgenesis (FSH receptor polymorphisms) Panel
By CGC Genetics
This panel specifically test the FSHR gene.
More info about this panelOvarian Dysgenesis 1 Panel
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the FSHR gene.
More info about this panelOvarian Dysgenesis and Ovarian Hyperstimulation Syndrome via FSHR Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the FSHR gene.
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
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 panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
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 panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
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 panelPremature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel
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 panelOvarian dysgenesis 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FSHR gene.
More info about this panelInfertility panel Panel
By Centogene AG - the Rare Disease Company Infertility panel that also includes the following genes: FSHB FSHR LHB LHCGR
More info about this panelEndocrine Disorders: Sequencing Panel Panel
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 panelEndocrine Disorders: Deletion/Duplication Panel Panel
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 panelFSHR Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FSHR gene.
More info about this panelPremature Ovarian Failure Panel Panel
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 panelOvarian dysgenesis 1 Panel
By Bioarray
This panel specifically test the FSHR gene.
More info about this panelPRIMARY OVARIAN FAILURE Panel
By Laboratorio de Genetica Clinica SL PRIMARY OVARIAN FAILURE that also includes the following genes: BMP15 FOXL2 DIAPH2 FSHR
More info about this panelPremature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel
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 panelOvarian dysgenesis 1 Panel
By Labor Dr. Wisplinghoff
This panel specifically test the FSHR gene.
More info about this panelPhosphorus Male Infertility Panel Panel
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 panelPhosphorus Female Infertility Panel Panel
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 panelTempus xO assay Panel
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 panelMale infertility genetic testing Panel
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 panelFemale infertility genetic testing Panel
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 panelPremature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel
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
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