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.
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
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
Search interest in HSD3B2
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 United States.
HSD3B2 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the HSD3B2 gene.
More info about this panel United States.
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 United States.
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 United States.
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 Spain.
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 Portugal.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Italy.
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 Israel.
Adrenal hyperplasia, congenital Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the HSD3B2 gene.
More info about this panel Austria.
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 Austria.
HSD3B2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the HSD3B2 gene.
More info about this panel Austria.
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 Spain.
Adrenal hyperplasia, congenital Panel
Slovakia.
By MedGene
This panel specifically test the HSD3B2 gene.
More info about this panel Slovakia.
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 Spain.
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 United States.
HSD3B2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HSD3B2 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Canada.
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