PSMC3IP gene related symptoms and diseases

All the information presented here about the PSMC3IP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PSMC3IP gene

Symptoms // Phenotype % Cases
Gonadal dysgenesis Very Common - Between 80% and 100% cases
Primary amenorrhea Very Common - Between 80% and 100% cases
Short stature Uncommon - Between 30% and 50% cases
Secondary amenorrhea Uncommon - Between 30% and 50% cases
Amenorrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PSMC3IP gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of secondary sexual hair
  • Osteoporosis of vertebrae
  • Aplasia/hypoplasia of the uterus
  • Aplasia/Hypoplasia of the breasts
  • Streak ovary
  • Decreased serum estradiol
  • Sparse pubic hair
  • Increased circulating gonadotropin level

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PSMC3IP gene

Here you will find a list of rare diseases related to the PSMC3IP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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 3; ODG3


Most common symptoms of OVARIAN DYSGENESIS 3; ODG3

  • Amenorrhea
  • Primary amenorrhea
  • Hypoplasia of the uterus
  • Gonadal dysgenesis


More info about OVARIAN DYSGENESIS 3; ODG3

SOURCES: OMIM


Potential gene panels for PSMC3IP 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

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: WNT4 WT1 PSMC3IP B3GLCT RSPO1 CYP11B1 CYP19A1 HCCS

More info about this panel

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: WNT4 WT1 PSMC3IP B3GLCT RSPO1 CYP11B1 CYP19A1 HCCS 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

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

Premature Ovarian Failure via PSMC3IP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PSMC3IP 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

PSMC3IP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PSMC3IP gene.

More info about this panel

BREAST AND OVARIAN CANCER NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B

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

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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