HSD3B2 gene related symptoms and diseases

All the information presented here about the HSD3B2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HSD3B2 gene

Symptoms // Phenotype % Cases
Insulin resistance Very Common - Between 80% and 100% cases
Polycystic ovaries Very Common - Between 80% and 100% cases
Hirsutism Very Common - Between 80% and 100% cases
Acne Common - Between 50% and 80% cases
Hypospadias Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with HSD3B2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Glucose intolerance
  • Enlarged ovaries
  • Ambiguous genitalia
  • Gynecomastia
  • Perineal hypospadias
  • Amenorrhea
  • Enlarged polycystic ovaries
  • Renal salt wasting

And 77 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HSD3B2 gene

Here you will find a list of rare diseases related to the HSD3B2. 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

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY


Alternate names

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Is also known as cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Description

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

Most common symptoms of CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Hypospadias
  • Delayed skeletal maturation


More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

SOURCES: ORPHANET

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY


Alternate names

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY Is also known as adrenal hyperplasia ii, hsdb, 3-beta-hsd deficiency

Description

Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).

Most common symptoms of ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY

  • Hypospadias
  • Micropenis
  • Hirsutism
  • Amenorrhea
  • Ambiguous genitalia


More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY

SOURCES: OMIM


Potential gene panels for HSD3B2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

HSD3B2 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the HSD3B2 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

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

HSD3B2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HSD3B2 gene.

More info about this panel

3-beta-hydroxysteroid dehydrogenase deficiency type II (sequence analysis of HSD3B2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HSD3B2 gene.

More info about this panel

Test for 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia Panel

Germany.

By Hehr Laboratory Center for Human Genetics - University of Regensburg

This panel specifically test the HSD3B2 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

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

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

3-beta-hydroxysteroid dehydrogenase deficiency type II Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HSD3B2 gene.

More info about this panel

3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the HSD3B2 gene.

More info about this panel

3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia, HSD3B2 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the HSD3B2 gene.

More info about this panel

Adrenal hyperplasia, congenital Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the HSD3B2 gene.

More info about this panel

CYP21A2 Panel

Austria.

By Division Human Genetics Medical University Innsbruck CYP21A2 that also includes the following genes: CYP11B1 CYP21A2 HSD3B2

More info about this panel

HSD3B2 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the HSD3B2 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

Adrenal hyperplasia, congenital Panel

Slovakia.

By MedGene

This panel specifically test the HSD3B2 gene.

More info about this panel

Adrenal hyperplasia, Congenital, 3-beta-hydroxysteroid dehydrogenase-deficient: HSD3B2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HSD3B2 gene.

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

HSD3B2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HSD3B2 gene.

More info about this panel

Congenital Adrenal Hyperplasia Panel Panel

Finland.

By Blueprint Genetics Congenital Adrenal Hyperplasia Panel that also includes the following genes: STAR ARMC5 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD3B2 POR PRKAR1A

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

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Panel

Spain.

By Bioarray

This panel specifically test the HSD3B2 gene.

More info about this panel

3-BETA- HYDROXYESTEROID DEHYDROGENASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HSD3B2 gene.

More info about this panel

3-Beta-Hydroxysteroid Dehydrogenase Deficiency , Sequencing HSD3B2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HSD3B2 gene.

More info about this panel

Congenital Adrenal Hyperplasia , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Adrenal Hyperplasia , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: STAR CYP11B1 CYP17A1 CYP21A2 HSD3B2 POR

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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