CYP11B2 gene related symptoms and diseases

All the information presented here about the CYP11B2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CYP11B2 gene

Symptoms // Phenotype % Cases
Growth delay Common - Between 50% and 80% cases
Renal salt wasting Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Dehydration Common - Between 50% and 80% cases
Failure to thrive in infancy Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CYP11B2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperkalemia
  • Hyponatremia
  • Decreased circulating aldosterone level
  • Increased circulating renin level
  • Not very common - Between 30% and 50% cases

  • Episodic fever
  • Secretory adrenocortical adenoma
  • Acidosis
  • Metabolic acidosis

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYP11B2 gene

Here you will find a list of rare diseases related to the CYP11B2. 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

FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1


Alternate names

FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1 Is also known as steroid 18-hydroxylase deficiency, cmo i, aldosterone deficiency due to defect in steroid 18-hydroxylase, 18-hydroxylase deficiency, 18-oxidase deficiency, aldosterone deficiency i, fhha1, hyperreninemic hypoaldosteronism, familial, 1, aldosterone synthase defici

Description

CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (OMIM ), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).

Most common symptoms of FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1

  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Fever
  • Vomiting


More info about FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1

SOURCES: ORPHANET OMIM

CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY


Alternate names

CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY Is also known as cmo ii deficiency, steroid 18-oxidase deficiency, 18-oxidase deficiency, fhha1b, aldosterone deficiency due to deficiency of steroid 18-oxidase, hyperreninemic hypoaldosteronism, familial, 1, aldosterone deficiency ii

Description

CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (OMIM ), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998).

Most common symptoms of CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY

  • Growth delay
  • Failure to thrive
  • Acidosis
  • Metabolic acidosis
  • Dehydration


More info about CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY

SOURCES: OMIM


Potential gene panels for CYP11B2 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

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73

More info about this panel

Hypoaldosteronism, congenital, due to CMO I / II deficiency Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the CYP11B2 gene.

More info about this panel

CYP11B2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CYP11B2 gene.

More info about this panel

Familial hyperaldosteronism type 1 (sequence analysis of CYP11B2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYP11B2 gene.

More info about this panel

Hyperaldosteronism (deletion/duplication analysis on CYP11B2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYP11B2 gene.

More info about this panel

Pseudohypoaldosteronism (NGS panel of 9 genes) Panel

Portugal.

By CGC Genetics Pseudohypoaldosteronism (NGS panel of 9 genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 CYP11B2 KLHL3 NR3C2

More info about this panel

Pseudohypoaldosteronism (NGS panel of 9 genes) Panel

Portugal.

By CGC Genetics Pseudohypoaldosteronism (NGS panel of 9 genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G WNK1 WNK4 CUL3 CYP11B2 KLHL3 NR3C2

More info about this panel

Hyperaldosteronism (deletion/duplication analysis on CYP11B2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYP11B2 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

Corticosterone methyloxidase type 1 deficiency Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CYP11B2 gene.

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

Hypoaldosteronism congenital due to CMO I deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYP11B2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

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

Corticosterone methyloxidase deficiency: CYP11B2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CYP11B2 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

CYP11B2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYP11B2 gene.

More info about this panel

Familial hyperreninemic hypoaldosteronism type 1 Panel

Spain.

By Bioarray

This panel specifically test the CYP11B2 gene.

More info about this panel

ALDOSTERONE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CYP11B2 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

FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CYP11B2 gene.

More info about this panel

Congenital Hypoaldosteronism due to CMO II Deficiency, Sequencing CYP11B2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CYP11B2 gene.

More info about this panel

Congenital Hypoaldosteronism due to CMO I Deficiency, Sequencing CYP11B2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CYP11B2 gene.

More info about this panel


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