CYP11B1 gene related symptoms and diseases
All the information presented here about the CYP11B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CYP11B1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hypokalemia | Very Common - Between 80% and 100% cases |
Hyperaldosteronism | Very Common - Between 80% and 100% cases |
Adrenogenital syndrome | Very Common - Between 80% and 100% cases |
Hypertension | Very Common - Between 80% and 100% cases |
Decreased circulating renin level | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CYP11B1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Long penis
- Accelerated skeletal maturation
- Decreased circulating aldosterone level
- Short stature
- Hypoplasia of the vagina
- Clitoral hypertrophy
- Ambiguous genitalia, female
- Adrenal hyperplasia
And 68 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CYP11B1 gene
Here you will find a list of rare diseases related to the CYP11B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL HYPERALDOSTERONISM TYPE I
Alternate names
FAMILIAL HYPERALDOSTERONISM TYPE I Is also known as aldosteronism, sensitive to dexamethasone, dexamethasone-sensitive hypertension, familial hyperaldosteronism type 1, glucocorticoid-sensitive hypertension, gra, glucocorticoid-remediable aldosteronism, gsh, glucocorticoid-suppressible hyperaldosteronism, fh i, fh1
Description
Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
Most common symptoms of FAMILIAL HYPERALDOSTERONISM TYPE I
- Muscle weakness
- Hypertension
- Headache
- Stroke
- Nausea
More info about FAMILIAL HYPERALDOSTERONISM TYPE I
CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY
Alternate names
CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY Is also known as cah due to 11-beta-hydroxylase deficiency, cyp11b1 deficiency
Description
Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
Most common symptoms of CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY
- Short stature
- Feeding difficulties
- Hypertension
- Vomiting
- Delayed skeletal maturation
More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY
SOURCES: ORPHANET
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
Alternate names
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY Is also known as p450c11b1 deficiency, adrenal hyperplasia iv, steroid 11-beta-hydroxylase deficiency, 11-beta-hydroxylase deficiency, adrenal hyperplasia, hypertensive form
Description
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991).CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (OMIM ) (White et al., 1991).
Most common symptoms of ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
- Short stature
- Hypertension
- Hypospadias
- Decreased testicular size
- Hyperpigmentation of the skin
More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
SOURCES: OMIM
Search interest in CYP11B1
Potential gene panels for CYP11B1 gene
MitoMet®Plus aCGH Analysis Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
CYP11B1 Familial Mutation/Variant Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/United-states.png)
CYP11B1 Prenatal Sequence Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/United-states.png)
CYP11B1 Sequence Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/United-states.png)
CYP11B1 (CAH) DNA Sequencing Test Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/United-states.png)
Congenital Adrenal Hyperplasia (CAH) Evaluation Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc Congenital Adrenal Hyperplasia (CAH) Evaluation that also includes the following genes: CYP11B1 CYP21A2
More info about this panel![](/img/flags/United-states.png)
CYP11B1 DNA Sequencing Test Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/United-states.png)
Monogenic Hypertension Evaluation Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc Monogenic Hypertension Evaluation that also includes the following genes: SCNN1B SCNN1G CYP11B1 HSD11B2
More info about this panel![](/img/flags/United-states.png)
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Glucocorticoid-remediable Aldosteronism Panel
![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
By Human Genetics University Hospital Bern
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
CYP11B1. Complete sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Glucocorticoid-remediable aldosteronism Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Glucocorticoid-remediable aldosteronism that also includes the following genes: CYP11B1 CYP11B2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Hereditary kidney disorders - different panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Comprehensive mitochondrial disorders panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
CentoICU platinum plus Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
New Born testing (CentoICU) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
![](/img/flags/Italy.png.pagespeed.ce.ki7TkQ3G4i.png)
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Italy.png.pagespeed.ce.ki7TkQ3G4i.png)
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1 Panel
![](/img/flags/Israel.png.pagespeed.ce.KciyoqIVu_.png)
By GGA - Galil Genetic Analysis
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Israel.png.pagespeed.ce.KciyoqIVu_.png)
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Adrenal hyperplasia, congenital Panel
![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
By Praxis fuer Humangenetik Wien
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Aldosteronism, glucocorticoid-remediable Panel
![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
By Praxis fuer Humangenetik Wien
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
CYP21A2 Panel
![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
By Division Human Genetics Medical University Innsbruck CYP21A2 that also includes the following genes: CYP11B1 CYP21A2 HSD3B2
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
CYP11B1 Panel
![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
By Division Human Genetics Medical University Innsbruck
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
qGenEx Sex development disorders Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Adrenal hyperplasia, congenital Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Aldosteronism, glucocorticoid-remediable Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Adrenal hyperplasia, Congenital, due to steroid-11-hydroxylase-deficiency: CYP11B1 gene sequence analysis Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Glucocorticoid-remediable aldosteronism: Fusion of CYP11B1 and CYP11B2 genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glucocorticoid-remediable aldosteronism: Fusion of CYP11B1 and CYP11B2 genes that also includes the following genes: CYP11B1 CYP11B2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Nuclear-Mito NGS Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
CYP11B1 Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/United-states.png)
KidneySeq - 264 Genes Panel
![](/img/flags/United-states.png)
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel![](/img/flags/United-states.png)
Congenital Adrenal Hyperplasia Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Abnormal Genitalia/ Disorders of Sex Development Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Familial hyperaldosteronism type 1 Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Adrenal Hyperplasia NGS and Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Congenital Adrenal Hyperplasia NGS and Deletion/Duplication Panel that also includes the following genes: CYP11B1 CYP21A2
More info about this panel![](/img/flags/United-states.png)
CYP11B1 Gene Sequencing and Deletion/Duplication Analysis Panel
![](/img/flags/United-states.png)
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/United-states.png)
FAMILIAL HYPERALDOSTERONISM TYPE 1, GLUCOCORTICOID REMEDIABLE ALDOSTERONISM Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Laboratorio de Genetica Clinica SL FAMILIAL HYPERALDOSTERONISM TYPE 1, GLUCOCORTICOID REMEDIABLE ALDOSTERONISM that also includes the following genes: CYP11B1 CYP11B2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxilase Deficiency, Sequencing CYP11B1 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the CYP11B1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Adrenal Hyperplasia , Panel Massive Sequencing (NGS) 6 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITGA7 CYBB