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
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.
CYP11B1 Familial Mutation/Variant Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CYP11B1 gene.
More info about this panel United States.
CYP11B1 Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CYP11B1 gene.
More info about this panel United States.
CYP11B1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CYP11B1 gene.
More info about this panel United States.
CYP11B1 (CAH) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the CYP11B1 gene.
More info about this panel United States.
Congenital Adrenal Hyperplasia (CAH) Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Adrenal Hyperplasia (CAH) Evaluation that also includes the following genes: CYP11B1 CYP21A2
More info about this panel United States.
CYP11B1 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the CYP11B1 gene.
More info about this panel United States.
Monogenic Hypertension Evaluation Panel
United States.
By Athena Diagnostics Inc Monogenic Hypertension Evaluation that also includes the following genes: SCNN1B SCNN1G CYP11B1 HSD11B2
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.
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 United States.
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 United States.
Glucocorticoid-remediable Aldosteronism Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the CYP11B1 gene.
More info about this panel Switzerland.
CYP11B1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CYP11B1 gene.
More info about this panel Spain.
Glucocorticoid-remediable aldosteronism Panel
Germany.
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 Germany.
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CYP11B1 gene.
More info about this panel Germany.
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.
Hereditary kidney disorders - different panels Panel
Germany.
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 Germany.
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.
Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CYP11B1 gene.
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.
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the CYP11B1 gene.
More info about this panel Italy.
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the CYP11B1 gene.
More info about this panel Germany.
CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the CYP11B1 gene.
More info about this panel Israel.
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the CYP11B1 gene.
More info about this panel Germany.
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the CYP11B1 gene.
More info about this panel Germany.
Adrenal hyperplasia, congenital Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CYP11B1 gene.
More info about this panel Austria.
Aldosteronism, glucocorticoid-remediable Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CYP11B1 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.
CYP11B1 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the CYP11B1 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 CYP11B1 gene.
More info about this panel Slovakia.
Aldosteronism, glucocorticoid-remediable Panel
Slovakia.
By MedGene
This panel specifically test the CYP11B1 gene.
More info about this panel Slovakia.
Adrenal hyperplasia, Congenital, due to steroid-11-hydroxylase-deficiency: CYP11B1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CYP11B1 gene.
More info about this panel Spain.
Glucocorticoid-remediable aldosteronism: Fusion of CYP11B1 and CYP11B2 genes Panel
Spain.
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 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.
CYP11B1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CYP11B1 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
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 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.
Familial hyperaldosteronism type 1 Panel
Spain.
By Bioarray
This panel specifically test the CYP11B1 gene.
More info about this panel Spain.
Congenital Adrenal Hyperplasia NGS and Deletion/Duplication Panel Panel
United States.
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 United States.
CYP11B1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
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 United States.
FAMILIAL HYPERALDOSTERONISM TYPE 1, GLUCOCORTICOID REMEDIABLE ALDOSTERONISM Panel
Spain.
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 Spain.
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxilase Deficiency, Sequencing CYP11B1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CYP11B1 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.
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