HSD17B3 gene related symptoms and diseases

All the information presented here about the HSD17B3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HSD17B3 gene

Symptoms // Phenotype % Cases
Cryptorchidism Very Common - Between 80% and 100% cases
Polycystic ovaries Very Common - Between 80% and 100% cases
Abnormality of the urethra Very Common - Between 80% and 100% cases
Abnormality of the ovary Very Common - Between 80% and 100% cases
Oligospermia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HSD17B3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Male pseudohermaphroditism
  • Congenital hypothyroidism
  • Secondary amenorrhea
  • Impotence
  • Hypogonadotrophic hypogonadism
  • Abnormality of metabolism/homeostasis
  • Gynecomastia
  • Primary amenorrhea

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HSD17B3 gene

Here you will find a list of rare diseases related to the HSD17B3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY


Alternate names

46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY Is also known as 17-ketosteroidreductase deficiency, 17-ketosteroid reductase deficiency of testis, pseudohermaphroditism, male, with gynecomastia, 17-ketoreductase deficiency, 17-ksr deficiency, neutral 17-beta-hydroxysteroid oxidoreductase deficiency, 17-beta-hydroxysteroid d

Description

17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.

Most common symptoms of 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY

  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Infertility
  • Hirsutism


More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY

SOURCES: MESH ORPHANET OMIM


Potential gene panels for HSD17B3 gene

17-beta Hydroxysteroid Dehydrogenase III Deficiency Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the HSD17B3 gene.

More info about this panel

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41

More info about this panel

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

United States.

By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1

More info about this panel

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

United States.

By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1

More info about this panel

Pseudohermaphroditism with gynecomastia (sequence analysis of HSD17B3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HSD17B3 gene.

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

46,XY Disorder of Sex Development (DSD) via HSD17B3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HSD17B3 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

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT 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

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2

More info about this panel

Pseudohermaphroditism with gynecomastia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HSD17B3 gene.

More info about this panel

qGenEx Sex development disorders Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1

More info about this panel

HSD17B3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HSD17B3 gene.

More info about this panel

Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4

More info about this panel

17-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY (PSEUDOHERMAFRODITISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HSD17B3 gene.

More info about this panel

Nonsyndromic disorders of sexual development: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic disorders of sexual development: gene sequencing panel that also includes the following genes: SRD5A2 STAR CBX2 CYP11A1 CYP17A1 AKR1C2 HSD17B3 HSD3B2 ANOS1 AR

More info about this panel


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