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
Search interest in CYP21A2
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 panelCongenital 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 panelCYP21A2 Deletion Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the CYP21A2 gene.
More info about this panelCYP21A2 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the CYP21A2 gene.
More info about this panelCongenital 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 panelCYP21A2 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 panel21-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 panelCYP21A2 Panel
Belgium.
By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital
This panel specifically test the CYP21A2 gene.
More info about this panelCYP21A2. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CYP21A2 gene.
More info about this panelCYP21A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CYP21A2 gene.
More info about this panel21-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 panelAdrenal 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 panel21-hydroxylase deficiency (sequence analysis of CYP21A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CYP21A2 gene.
More info about this panelCAH , 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 panel21-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 panelCongenital 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 panel21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the CYP21A2 gene.
More info about this panel21-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 panelCAH, 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 panelCongenital Adrenal Hyperplasia Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the CYP21A2 gene.
More info about this panelAdrenal 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 panel21-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 panel21-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 panel21-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 panel21-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 panelCongenital 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 panel21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Panel
Spain.
By Medical Genetics Unit Sistemas Genómicos
This panel specifically test the CYP21A2 gene.
More info about this panelCongenital Adrenal Hyperplasia Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the CYP21A2 gene.
More info about this panel21-hydroxylase deficiency Panel
Spain.
By Innovagenomics Innovagenomics S.L
This panel specifically test the CYP21A2 gene.
More info about this panel21-hydroxylase deficiency, CYP2A2 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the CYP21A2 gene.
More info about this panelCongenital 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 panelAshkenazi 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 panelCongenital 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 panel21-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 panelAdrenal hyperplasia, congenital Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CYP21A2 gene.
More info about this panelCYP21A2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck CYP21A2 that also includes the following genes: CYP11B1 CYP21A2 HSD3B2
More info about this panelFamily 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 panelqCarrier 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 panelAdrenal hyperplasia, congenital Panel
Slovakia.
By MedGene
This panel specifically test the CYP21A2 gene.
More info about this panelAdrenal 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 panelAdrenal 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 panelAdrenal 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 panelPan-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 panelCYP21A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CYP21A2 gene.
More info about this panelCAH (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 panelCAH (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 panelCAH (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 panelCongenital 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 panelAbnormal 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 panelCongenital adrenal hyperplasia Panel
Spain.
By Bioarray
This panel specifically test the CYP21A2 gene.
More info about this panelCongenital adrenal hyperplasia Panel
Spain.
By Bioarray
This panel specifically test the CYP21A2 gene.
More info about this panelCongenital adrenal hyperplasia Panel
Brazil.
By Genomic Engenharia Molecular
This panel specifically test the CYP21A2 gene.
More info about this panelBaby 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 panelCongenital 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 panelCYP21A2 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 panelCONGENITAL 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 panelAdrenal hyperplasia due to 21-Hydroxylase deficiency Panel
Canada.
By LifeLabs Genetics
This panel specifically test the CYP21A2 gene.
More info about this panelCongenital 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 panelCongenital 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 panelCongenital 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 panelplanTrue 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 panelTempus 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 panelCEN4GEN 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 panelCEN4GEN 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 panelNon-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 panelPan-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 panelCEN4GEN 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 panelCongenital 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 panelCongenital adrenal hyperplasia Panel
Hungary.
By Genomic Laboratory Semmelweis University
This panel specifically test the CYP21A2 gene.
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