CYP21A2 gene related symptoms and diseases

All the information presented here about the CYP21A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CYP21A2 gene

Symptoms // Phenotype % Cases
Short stature Uncommon - Between 30% and 50% cases
Renal salt wasting Uncommon - Between 30% and 50% cases
Abnormality of the thorax Uncommon - Between 30% and 50% cases
Clitoral hypertrophy Uncommon - Between 30% and 50% cases
Adrenal insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CYP21A2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Decreased fertility
  • Lipoma
  • Adrenal hyperplasia
  • Astrocytoma
  • Sarcoma
  • Abnormality of the ovary
  • Congenital adrenal hyperplasia
  • Abnormal spermatogenesis

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYP21A2 gene

Here you will find a list of rare diseases related to the CYP21A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY


Alternate names

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency, 21-hydroxylase deficiency, congenital adrenal hyperplasia 1, cah1, adrenal hyperplasia iii

Description

Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

Most common symptoms of ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

SOURCES: OMIM

CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SALT WASTING FORM


Alternate names

CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SALT WASTING FORM Is also known as classic 21-ohd cah, salt wasting form

Description

The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.


More info about CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SALT WASTING FORM

SOURCES: ORPHANET

CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SIMPLE VIRILIZING FORM


Alternate names

CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SIMPLE VIRILIZING FORM Is also known as classic 21-ohd cah, simple virilizing form

Description

The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.


More info about CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SIMPLE VIRILIZING FORM

SOURCES: ORPHANET


Potential gene panels for CYP21A2 gene

CYP21A2 (CAH) Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CYP21A2 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

CYP21A2 Deletion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CYP21A2 gene.

More info about this panel

CYP21A2 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital Adrenal Hyperplasia (CAH) Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the CYP21A2 gene.

More info about this panel

CYP21A2 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CYP21A2 gene.

More info about this panel

21-hydroxlase deficiency associated Congenital Adrenal Hyperplasia Panel

Canada.

By Alberta Children's Hospital Molecular Diagnostic Laboratory Alberta Children's Hospital

This panel specifically test the CYP21A2 gene.

More info about this panel

CYP21A2 Panel

Belgium.

By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital

This panel specifically test the CYP21A2 gene.

More info about this panel

CYP21A2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CYP21A2 gene.

More info about this panel

CYP21A2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CYP21A2 gene.

More info about this panel

21-hydroxylase deficiency (frequent mutations and deletion/duplication analysis on CYP21A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYP21A2 gene.

More info about this panel

Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis of CYP21A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYP21A2 gene.

More info about this panel

21-hydroxylase deficiency (sequence analysis of CYP21A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYP21A2 gene.

More info about this panel

CAH , Congenital Adrenal Hyperplasia Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency via the CYP21A2 Gene Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CYP21A2 gene.

More info about this panel

CAH, 21-hydroxylase-deficiency Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital Adrenal Hyperplasia Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the CYP21A2 gene.

More info about this panel

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel

United Kingdom.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel

United States.

By Molecular Diagnostics Children's Hospital of Wisconsin

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital Adrenal Hyperplasia Panel

Turkey.

By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel

Spain.

By Medical Genetics Unit Sistemas Genómicos

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital Adrenal Hyperplasia Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the CYP21A2 gene.

More info about this panel

21-hydroxylase deficiency Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the CYP21A2 gene.

More info about this panel

21-hydroxylase deficiency, CYP2A2 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital Adrenal Hyperplasia due to 21-Hydroxylase deficiency Panel

Chile.

By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile

This panel specifically test the CYP21A2 gene.

More info about this panel

Ashkenazi Jewish diseases Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR

More info about this panel

Congenital adrenal hyperplasia(CAH),CYP21A2 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the CYP21A2 gene.

More info about this panel

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CAH, AGS) Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the CYP21A2 gene.

More info about this panel

Adrenal hyperplasia, congenital Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CYP21A2 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

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Adrenal hyperplasia, congenital Panel

Slovakia.

By MedGene

This panel specifically test the CYP21A2 gene.

More info about this panel

Adrenal hyperplasia, Congenital, 21-hydroxylase-deficient: CYP21 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CYP21A2 gene.

More info about this panel

Adrenal hyperplasia, Congenital, 21-hydroxylase-deficient: CYP21A2 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CYP21A2 gene.

More info about this panel

Adrenal hyperplasia, Congenital, 21-hydroxylase-deficient: CYP21A2 gene mutations and deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CYP21A2 gene.

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

CYP21A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYP21A2 gene.

More info about this panel

CAH (21-Hydroxylase Deficiency) Common Mutations Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CYP21A2 gene.

More info about this panel

CAH (21-Hydroxylase Deficiency) Common Mutations (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CYP21A2 gene.

More info about this panel

CAH (21-Hydroxylase Deficiency) Rare Mutations Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CYP21A2 gene.

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

Congenital adrenal hyperplasia Panel

Spain.

By Bioarray

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital adrenal hyperplasia Panel

Spain.

By Bioarray

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital adrenal hyperplasia Panel

Brazil.

By Genomic Engenharia Molecular

This panel specifically test the CYP21A2 gene.

More info about this panel

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

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

CYP21A2 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 CYP21A2 gene.

More info about this panel

CONGENITAL ADRENAL HYPERPLASIA (11-BETA-HYDROXYLASE DEFICIENCY) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CYP21A2 gene.

More info about this panel

Adrenal hyperplasia due to 21-Hydroxylase deficiency Panel

Canada.

By LifeLabs Genetics

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital Adrenal Hyperplasia due to 21-Beta-Hydroxylase Deficiency, Sequencing CYP21A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CYP21A2 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

Congenital adrenal Hyperplasia gene sequencing Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the CYP21A2 gene.

More info about this panel

planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Non-classic hyperandrogenism due to 21-hydroxylase deficiency: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the CYP21A2 gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency : Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the CYP21A2 gene.

More info about this panel

Congenital adrenal hyperplasia Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the CYP21A2 gene.

More info about this panel


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