BMP15 gene related symptoms and diseases

All the information presented here about the BMP15 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BMP15 gene

Symptoms // Phenotype % Cases
Abnormality of metabolism/homeostasis Common - Between 50% and 80% cases
Secondary amenorrhea Common - Between 50% and 80% cases
Hirsutism Common - Between 50% and 80% cases
Amenorrhea Common - Between 50% and 80% cases
Delayed puberty Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with BMP15 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Primary amenorrhea
  • Premature ovarian insufficiency
  • Not very common - Between 30% and 50% cases

  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Delayed skeletal maturation
  • Osteopenia
  • Arachnodactyly

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BMP15 gene

Here you will find a list of rare diseases related to the BMP15. 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

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 2; ODG2


Alternate names

OVARIAN DYSGENESIS 2; ODG2 Is also known as ovarian dysgenesis, hypergonadotropic, x-linked, ovarian failure, hypergonadotropic, due to ovarian 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 cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000).

Most common symptoms of OVARIAN DYSGENESIS 2; ODG2

  • Delayed puberty
  • Hirsutism
  • Amenorrhea
  • Primary amenorrhea
  • Hypergonadotropic hypogonadism


More info about OVARIAN DYSGENESIS 2; ODG2

SOURCES: OMIM MESH


Potential gene panels for BMP15 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

BMP15. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the BMP15 gene.

More info about this panel

Ovarian Dysgenesis via BMP15 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BMP15 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 type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BMP15 gene.

More info about this panel

Ovarian failure, Premature: BMP15 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the BMP15 gene.

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

BMP15 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BMP15 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 2 Panel

Spain.

By Bioarray

This panel specifically test the BMP15 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) , Sequencing BMP15 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BMP15 gene.

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 2 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the BMP15 gene.

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

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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