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.

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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

SOURCES: MESH OMIM ORPHANET

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


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

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

CYP11B1 Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CYP11B1 gene.

More info about this panel

CYP11B1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CYP11B1 gene.

More info about this panel

CYP11B1 (CAH) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CYP11B1 gene.

More info about this panel

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

CYP11B1 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CYP11B1 gene.

More info about this panel

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

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,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

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

Glucocorticoid-remediable Aldosteronism Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the CYP11B1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

Adrenal hyperplasia, congenital Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CYP11B1 gene.

More info about this panel

Aldosteronism, glucocorticoid-remediable Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CYP11B1 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

CYP11B1 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the CYP11B1 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 CYP11B1 gene.

More info about this panel

Aldosteronism, glucocorticoid-remediable Panel

Slovakia.

By MedGene

This panel specifically test the CYP11B1 gene.

More info about this panel

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

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

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

CYP11B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYP11B1 gene.

More info about this panel

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

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

Familial hyperaldosteronism type 1 Panel

Spain.

By Bioarray

This panel specifically test the CYP11B1 gene.

More info about this panel

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

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

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

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

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


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