CYP21A2 - cytochrome P450 family 21 subfamily A member 2 Gene

Also Known as CAH1; CPS1; CA21H; CYP21; CYP21B; P450c21B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1589

About CYP21A2

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:32,038,415-32,041,644 (from NCBI)

This gene has 15 transcripts (splice variants), 1 gene allele, 176 orthologues and is associated with 4 phenotypes. Restricted expression toward adrenal (RPKM 498.8).

Summary

This gene encodes a member of the Cytochrome P450 superfamily of Enzymes. The Cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of Cholesterol, Steroids and Other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates Steroids at the 21 position. Its activity is required for the synthesis of steroid Hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CYP21A2 Products (4)

mRNA Protein Name
NM_000500.9 NP_000491.4 steroid 21-hydroxylase isoform a
NM_001128590.4 NP_001122062.3 steroid 21-hydroxylase isoform b
NM_001368143.2 NP_001355072.1 steroid 21-hydroxylase isoform c
NM_001368144.2 NP_001355073.1 steroid 21-hydroxylase isoform c
Molecular Function GO Annotation Evidence References Source
enables 17-hydroxyprogesterone 21-hydroxylase activity IDA
IDA: Inferred from direct assay
25855791 GOA
enables heme binding IDA
IDA: Inferred from direct assay
25855791 GOA
enables progesterone 21-hydroxylase activity IDA
IDA: Inferred from direct assay
25855791 GOA
enables steroid hydroxylase activity IMP
IMP: Inferred from mutant phenotype
16984992 GOA
Biological Process GO Annotation Evidence References Source
involved in steroid biosynthetic process IDA
IDA: Inferred from direct assay
25855791 GOA
involved in steroid metabolic process IMP
IMP: Inferred from mutant phenotype
16984992 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP21A2 Protein Structure

p450

p450: Cytochrome P450 (48 - 478)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 494 a.a.
Protein Preferred Names Protein Names

steroid 21-hydroxylase

  • 21-OHase

Recombinant CYP21A2 Proteins

Cat. No. Product Name Accession Purity
HY-P71728 CYP21A2 Protein, Human (P.pastoris, His) P08686 (M1-Q494) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P72164 CYP21A2 Protein, Human (His) P08686 (M1-Q494) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
  • 21-Hydroxylase Deficiency

  • Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency

  • Cyp21 Deficiency

  • Congenital Adrenal Hyperplasia 1

  • Cah1

  • Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency

  • Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency

  • Classic 21-Ohd Cah

  • 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

  • 21 Hydroxylase Deficiency

  • Adrenal Hyperplasia Iii

  • 21-Ohd Cah

  • Virilizing Adrenal Hyperplasia

  • Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency

  • Adrenal Hyperplasia 3

  • AH3

  • Adrenal Hyperplasia Type Iii

  • Ah-Iii

  • Hyperandrogenism Nonclassic Type Due To 21-Hydroxylase Deficiency

Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Simple Virilizing Form
  • Classic 21-Ohd Cah, Simple Virilizing Form

Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Salt Wasting Form
  • Classic 21-Ohd Cah, Salt Wasting Form

Lipoid Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hyperplasia

  • Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

  • Congenital Lipoid Adrenal Hyperplasia

  • Lipoid Cah

  • Lipoid Adrenal Hyperplasia

  • Adrenal Hyperplasia 1

  • Cah

  • Clah

  • LCAH

  • Adrenal Hyperplasia I

  • Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

  • Congenital Adrenal Hyperplasia Lipoid

  • Adrenal Hyperplasia, Congenital

  • Congenital Adrenal Hyperplasia, Lipoid

  • AH1

  • Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

  • Adrenal Hyperplasia Congenital

  • Hyperplasia, Adrenal, Lipoid, Congenital

  • Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

  • Congenital Adrenal Cortical Hyperplasia

  • Congenital Adrenal Gland Hyperplasia

  • Congenital Adrenogenital Syndrome

  • Congenital Hyperadrenocorticism

  • Congenital Adrenogenitalism

  • Congenital Female Adrenal Pseudohermaphroditism

Adrenogenital Syndrome
  • Adrenogenital Disease

  • Adrenogenital Syndrome Nos

Luteoma
  • Leuteoma Of Pregnancy

  • Luteoma Of Pregnancy

Adrenal Rest Tumor
  • Adrenal Rest Neoplasm

Antley-Bixler Syndrome
  • Trapezoidocephaly Synostosis Syndrome

  • Trapezoidocephaly-Synostosis Syndrome

  • Antley Bixler Syndrome

  • Multisynostotic Osteodysgenesis With Long Bone Fractures

  • Osteodysgenesis, Multisynostotic With Fractures

  • Antley-Bixler Syndrome, Autosomal Dominant

  • Antley-Bixler Syndrome Phenotype

Hyperandrogenism
  • Hyperandrogenization Syndrome

Adrenal Carcinoma
  • Adrenal Cancer

  • Adrenal Gland Cancer

  • Malignant Neoplasm Of Adrenal Gland

  • Adrenal Gland Neoplasms

  • Carcinoma Of The Adrenal Gland

  • Adrenal Neoplasm

  • Malignant Adrenal Tumor

  • Neoplasm Of Adrenal Gland

  • Tumor Of The Adrenal Gland

  • Adrenal Gland Neoplasm

  • Adrenocortical Carcinoma

  • Adrenal Gland Malignancy

  • Suprarenal Cancer

  • Malignant Neoplasm Of Suprarenal Gland

  • Malignant Neoplasm Of Adrenal Gland, Unspecified

  • Malignant Tumour Of Adrenal Gland

  • Suprarenal Gland Cancer

  • Primary Malignant Neoplasm Of Adrenal Gland

Conn'S Syndrome
  • Cushing Syndrome

  • Hyperaldosteronism

  • Primary Hyperaldosteronism

  • Hypercortisolism

  • Primary Aldosteronism

  • Cushing'S Syndrome

  • Adrenal Gland Hyperfunction

  • Conn Syndrome

  • Hyperadrenalism

  • Ectopic Acth Syndrome

  • Hyperadrenocorticism

  • Cushing Disease

  • Cushing'S Disease

  • Adrenal Cortex Adenoma

  • Corticotroph Pituitary Adenoma

  • Pituitary Corticotroph Micro-Adenoma

  • Pituitary-Dependent Cushing Syndrome

  • Pituitary Acth Hypersecretion

  • Acth Syndrome, Ectopic

  • Acth-Secreting Pituitary Adenoma

  • Adrenal Hyperfunction Resulting From Pituitary Acth Excess

  • Ectopic Adrenocorticotropic Hormone Syndrome

  • Nodular Primary Adrenocortical Dysplasia

  • Pituitary Dependent Cushing Syndrome

  • Pituitary Cushing Syndrome

  • Pituitary-Dependant Cushing Syndrome

  • Pituitary-Dependant Hypercortisolism

  • Pituitary-Dependant Hypercortisolism Disorder

  • Aldosteronism Primary

  • Acth Syndrome Ectopic

  • Adrenal Cushing'S Syndrome

  • Adrenal Cortical Adenoma

  • Cushing Syndrome Nos

  • Cortisol Hypersecretion

  • Corticoadrenal Hypersecretion

  • Cushing Syndrome Secondary To Ectopic Acth-Secretion

  • Ectopic Cushing Syndrome

  • Hypercortisolism Due To Nonpituitary Tumour

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

  • Idiopathic Aldosteronism

  • Aldosteronism

  • Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

  • Primary Aldosteronism Due To Adrenal Hyperplasia

Leydig Cell Tumor
  • Leydig Cell Neoplasm

  • Tumor, Leydig Cell

  • Leydig Cell Tumor, Benign

Precocious Puberty
  • Familial Precocious Puberty

  • Idiopathic Sexual Precocity

  • Sexual Precocity

  • Puberty Precocious

  • Cryptogenic Sexual Precocity

Steroid Inherited Metabolic Disorder
  • Steroid Metabolism, Inborn Errors

Adrenal Adenoma
  • Adenoma Of The Adrenal Gland

  • Adrenal Incidentaloma

  • Adrenal Cortical Adenoma

  • Adrenocortical Adenoma

Polycystic Ovary Syndrome
  • Polycystic Ovarian Syndrome

  • Pcos

  • Polycystic Ovarian Disease

  • Polycystic Ovaries

  • Stein-Leventhal Syndrome

  • Multicystic Ovaries

  • Polycystic Ovary

  • Sclerocystic Ovaries

  • Sclerocystic Ovary Syndrome

  • Stein-Leventhal Synd.

  • Cystic Disease Of Ovaries

  • Cystic Disease Of Ovary

  • Pco

  • Pcod

  • Sclerocystic Ovarian Degeneration

  • Polycystic Ovary Syndrome, Susceptibility To

  • Pcos - [Polycystic Ovary Syndrome]

  • Polycystic Ovary Nos

  • Pco - [Polycystic Ovary]

Acute Adrenal Insufficiency
  • Addisonian Crisis

  • Adrenal Crisis

  • Acute Adrenocortical Insufficiency

  • Adrenocortical Crisis

  • Acute Adrenal Failure

  • Adrenal Collapse

  • Adrenal Shock

  • Severe Adrenal Insufficiency

  • Addison Crisis

Mixed Gonadal Dysgenesis
  • Gonadal Dysgenesis Mixed

  • Gonadal Dysgenesis, Mixed

Cortisone Reductase Deficiency
  • 11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of

  • Cortrd

  • Hsd 11b1 Deficiency

Hypoadrenocorticism, Familial
  • Addison Disease

  • Primary Adrenocortical Insufficiency

  • Addison'S Disease

  • Adrenal Gland Hypofunction

  • Adrenal Hypoplasia

  • Adrenal Aplasia

  • Addison Disease, Chronic Adrenal Insufficiency

  • Primary Hypoadrenalism

  • Hypoadrenocorticism Familial

  • Autoimmune Addison Disease

  • Autoimmune Adrenalitis

  • Classic Addison Disease

  • Primary Addison Disease

  • Addisons Disease

  • Addison Disease, Susceptibility To

  • Autoimmune Primary Adrenal Insufficiency

  • Addison'S Disease Due To Autoimmunity

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
  • APS1

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  • Apeced

  • Pga I

  • Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

  • Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

  • Polyglandular Autoimmune Syndrome, Type 1

  • Autoimmune Polyglandular Syndrome Type 1

  • Autoimmune Polyendocrine Syndrome Type 1

  • Autoimmune Polyendocrinopathy Syndrome Type 1

  • Whitaker Syndrome

  • Aps Type 1

  • Polyglandular Type I Autoimmune Syndrome

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

  • Aps I

  • Autoimmune Polyglandular Syndrome, Type I

  • Polyglandular Autoimmune Syndrome, Type I

  • Aps 1

  • Autoimmune Polyglandular Syndrome Type I

  • Pga 1

  • Pga-I

  • Polyglandular Autoimmune Syndrome Type 1

  • Type I Polyglandular Autoimmune Syndrome

  • Aire Deficiency

  • Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

  • Autoimmune Polyglandular Syndrome, Type 1

  • Autoimmune Polyendocrinopathy Type 1

  • Apeced Syndrome

  • Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

  • Ham Syndrome

  • Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

  • Medac Syndrome

  • Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

  • Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

  • Aps-1

  • Autoimmune Polyendocrine Syndrome Type I

  • Autoimmune Polyendocrinopathy Syndrome Type I

  • Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

  • Polyglandular Autoimmune Syndrome Type I

  • Polyglandular Deficiency Syndrome Persian-Jewish Type

  • Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

  • Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Cytochrome P450 Oxidoreductase Deficiency
  • Por Deficiency

  • Pord

  • Antley-Bixler Syndrome With Disordered Steroidogenesis

  • Antley-Bixler Syndrome

  • Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis

  • Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase

  • Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency

  • Antley-Bixler Syndrome, Autosomal Dominant

Adrenal Cortical Adenoma
  • Adrenocortical Adenoma

  • Adenoma Adrenocortical

Turner Syndrome
  • Monosomy X

  • Gonadal Dysgenesis Turner Type

  • Ullrich-Turner Syndrome

  • Bonnevie-Ullrich Syndrome

  • Karyotype 45, X

  • Genital Dwarfism, Turner Type

  • Gonadal Dysgenesis

  • 45,X

  • Turner'S Syndrome

  • Gonadal Dysgenesis - Turner

  • Monosomy X Syndrome

  • Xo Syndrome

  • Genital Dwarfism

  • 45, X Syndrome

  • Bonnevie-Ulrich Syndrome

  • Chromosome X Monosomy X

  • Schereshevkii Turner Syndrome

  • Turner Varny Syndrome

  • Ts

  • 45,X Syndrome

  • 45,X/46,Xx Syndrome

  • Turners Syndrome

  • Gonadal Dysgenesis, 45,X

  • X0 Syndrome

Pseudohermaphroditism
  • Indeterminate Sex And Pseudohermaphroditism

Acne
  • Acne Vulgaris

  • Acne Varioliformis

  • Frontalis Acne

Adrenal Cortical Carcinoma
  • Adrenocortical Carcinoma

  • Adrenal Cortex Carcinoma

  • Carcinoma Of The Adrenal Cortex

  • Acc

  • Adrenocortical Cancer

  • Carcinoma Adrenocortical

Anovulation
Germinoma
Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

Adrenal Cortical Hypofunction
  • Adrenal Cortical Insufficiency

  • Corticoadrenal Insufficiency

Hypogonadotropic Hypogonadism
  • Klinefelter Syndrome

  • Klinefelter'S Syndrome

  • Xxy Syndrome

  • Xxy Trisomy

  • Hypogonadotropism

  • 47, Xxy

  • Congenital Idiopathic Hypogonadotropic Hypogonadism

  • Isolated Congenital Gonadotropin Deficiency

  • 47,Xxy Syndrome

  • 47, Xxy Syndrome

  • Klinefelters Syndrome

  • Hypogonadism

  • Klinefelter Syndrome In Males

  • Klinefelter Syndrome, Unspecified

  • Klinefelter Syndrome Karyotype 47, Xxy

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
  • P450scc Deficiency

  • Congenital Adrenal Insufficiency

  • Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete

  • 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency

  • Xy Sex Reversal-Adrenal Failure

  • Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal

  • AICSR

  • Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete

  • Adrenal Insufficiency, Congenital

  • Congenital Adrenal Hyperplasia

  • Adrenogenital Syndrome

Physical Disorder
  • Physical Illness

Infertility
Male Infertility
  • Infertility, Male

  • Infertility Male

  • Male Sterility

  • Absolute Infertility

Sebaceous Gland Disease
  • Sebaceous Gland Anomaly

  • Sebaceous Gland Diseases

Adrenal Cortex Disease
  • Adrenal Cortex Diseases

Pseudohypoaldosteronism
Adrenal Hypoplasia, Congenital
  • X-Linked Adrenal Hypoplasia Congenita

  • Congenital Adrenal Hypoplasia

  • AHC

  • Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism

  • Adrenal Hypoplasia Congenita

  • X-Linked Ahc

  • Ahch

  • Ahx

  • Ahc With Hhg

  • Cytomegalic Adrenocortical Hypoplasia

  • Ahc With Isolated Gonadotropin Deficiency

  • X-Linked Congenital Adrenal Hypoplasia

  • Congenital Adrenal Hypoplasia, X-Linked

  • Addison Disease, X-Linked

  • Primary Adrenal Hypoplasia

  • Adrenal Hypoplasia Congenital, X-Linked

  • X-Linked Addison Disease

  • X-Linked Adrenal Hypoplasia Congenital

  • Congenital Hypoplasia Of Adrenal Gland

  • Congenital Adrenal Gland Hypoplasia

  • Congenital Small Adrenal Gland

  • Adrenal Hypoplasia

  • Cah - [Congenital Adrenal Hypoplasia]

Complement Component 2 Deficiency
  • C2D

  • C2 Deficiency

  • Complement 2 Deficiency

  • Complement Component-2

Familial Glucocorticoid Deficiency
  • Glucocorticoid Deficiency

  • Acth Resistance

  • Adrenal Unresponsiveness To Acth

  • Hereditary Unresponsiveness To Adrenocorticotropic Hormone

  • Isolated Glucocorticoid Deficiency

  • Glucocorticoid Deficiency, Familial

  • Glucocorticoid Deficiency 1

Gender Incongruence
  • Gender Dysphoria

  • Transsexualism

  • Gender Identify Disorder

Precocious Puberty, Male-Limited
  • Testotoxicosis

  • Familial Male-Limited Precocious Puberty

  • Leydig Cell Adenoma, Somatic, With Precocious Puberty

  • FMPP

  • Familial Testotoxicosis

  • Sexual Precocity, Familial, Gonadotropin-Independent

  • Familial Gonadotropin-Independent Male-Limited Sexual Precocity

  • Male-Limited Precocious Puberty

  • Pubertas Praecox

  • Gonadotropin-Independent Familial Sexual Precocity

  • Testotoxicosis, Familial

  • Precocious Puberty, Male

  • Precocious Puberty, Male Limited

  • Familial Gonadotrophin-Independent Sexual Precocity

  • Gipp

  • Gonadotrophin-Independent Precocious Puberty

  • Precocious Pseudopuberty

  • Familial Male Precocious Puberty

  • Precocious Puberty In Males

  • Puberty, Precocious

  • Precocious Puberty

Corticosterone Methyloxidase Type I Deficiency
  • Cmo I Deficiency

  • Aldosterone Deficiency I

  • Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase

  • 18-Hydroxylase Deficiency

  • Hypoaldosteronism, Congenital, Due To Cmo I Deficiency

  • Corticosterone Methyloxidase Deficiency 1

  • Corticosterone Methyloxidase Type 1 Deficiency

  • Hyperreninemic Hypoaldosteronism, Familial, 1

  • Fhha1a

  • Steroid 18-Hydroxylase Deficiency

  • Aldosterone Synthase Deficiency

  • 18 Hydroxylase Deficiency

  • 18 Alpha Hydroxylase Deficiency

  • Aldosterone Deficiency 1

  • Aldosterone Deficiency Due To Defect In 18 Hydroxylase

  • Cmo 1 Deficiency

  • Corticosterone Methyloxidase 1 Deficiency

  • CMO-1 DEFICIENCY

  • Aldosterone Deficiency Due To Defect In 18-Hydroxylase

  • Corticosterone Methyl Oxidase Type I Deficiency

  • Corticosterone Methyl Oxidase Type Ii Deficiency

Cloacal Exstrophy
  • Oeis Complex

  • Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome

  • Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl

  • Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex

  • Cloacal Exstrophy Sequence

  • Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect

  • Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects

  • Omphalocele Exstrophy Imperforate Anus

Adrenal Gland Disease
  • Adrenal Gland Diseases

  • Adrenal Gland Disorders

46,Xy Sex Reversal 2
  • Dosage-Sensitive Sex Reversal

  • Dss

  • SRXY2

  • 46,Xy Sex Reversal, Dax1-Related

  • 46xy Sex Reversal 2, Dosage-Sensitive

  • 46,Xy Sex Reversal Dax1-Related

Spermatogenic Failure
  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism

Biotinidase Deficiency
  • Late-Onset Multiple Carboxylase Deficiency

  • BTD DEFICIENCY

  • Multiple Carboxylase Deficiency, Late-Onset

  • Multiple Carboxylase Deficiency, Juvenile-Onset

  • Juvenile-Onset Multiple Carboxylase Deficiency

  • Biotin Deficiency

  • Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

  • Deficiency Of Biotinidase

  • Biot

  • Carboxylase Deficiency, Multiple, Late-Onset

  • Late-Onset Mcd

  • Mcd Juvenile Form

  • Biotin Deficiency Disease

Alopecia, Androgenetic, 1
  • Androgenetic Alopecia

  • Androgenic Alopecia

  • AGA1

  • Aga

  • Female Pattern Baldness

  • Male Pattern Alopecia

  • Male Pattern Baldness

  • Pattern Baldness

  • Alopecia, Androgenetic

  • Alopecia Androgenetic

  • Female Pattern Alopecia

Disorder Of Sexual Development
  • Disorder Of Sex Development

  • Disorders Of Sex Development

  • Sex Development Disorder

  • Sex Differentiation Disease

  • Dsd

  • Sex Differentiation Disorders

Hyperaldosteronism, Familial, Type I
  • Glucocorticoid-Remediable Aldosteronism

  • Gra

  • Familial Hyperaldosteronism Type 1

  • Hyperaldosteronism, Familial Type 1

  • HALD1

  • Fh I

  • Glucocorticoid-Suppressible Hyperaldosteronism

  • Gsh

  • Acth-Dependent Hyperaldosteronism Syndrome

  • Aldosteronism, Glucocorticoid-Remediable

  • Dexamethasone Sensitive Hypertension

  • Glucocorticoid Sensitive Hypertension

  • Familial Hyperaldosteronism Type I

  • Fh1

  • Aldosteronism, Sensitive To Dexamethasone

  • Dexamethasone-Sensitive Hypertension

  • Fh-I

  • Glucocorticoid-Sensitive Hypertension

  • Hyperaldosteronism, Familial, 1

  • Aldosteronism Sensitive To Dexamethasone

  • Familial Hyperaldosteronism 1

  • Fh Type 1

  • Familial Aldosteronism Type I

46,Xy Sex Reversal
  • Swyer Syndrome

  • Pure Gonadal Dysgenesis 46,Xy

  • Gonadal Dysgenesis, Xy Female Type

  • Gonadal Dysgenesis, 46,Xy

  • 46,Xy Cgd

  • 46,Xy Complete Gonadal Dysgenesis

  • 46,Xy Pure Gonadal Dysgenesis

  • 46 Xy Gonadal Dysgenesis

  • 46, Xy Cgd

  • 46, Xy Complete Gonadal Dysgenesis

  • 46, Xy Pure Gonadal Dysgenesis

  • Xy Pure Gonadal Dysgenesis

  • Female With 46,Xy Karyotype

  • Xy Females

Asperger Syndrome
  • Asperger Disorder

  • Asperger Syndrome, Susceptibility To

Lipid Metabolism Disorder
  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism

Persistent Mullerian Duct Syndrome
  • Persistent Müllerian Duct Syndrome

  • Pmds

  • Persistent Oviduct Syndrome

  • Persistent Muellerian Duct Syndrome

  • Female Genital Ducts In Otherwise Normal Male

  • Hernia Uteri Inguinale

  • Persistent Mullerian Duct Syndrome, Types 1 And 2

  • Persistent Mullerian Derivatives

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Celiac Disease 1
  • Celiac Disease

  • Coeliac Disease

  • Celiac Sprue

  • Celiac Disease, Susceptibility To

  • Gluten-Sensitive Enteropathy

  • Nontropical Sprue

  • Sprue

  • CELIAC1

  • Celiac Disease, Susceptibility To, 1

  • Celiac Sprue 1

  • Celiac Sprue, Susceptibility To, 1

  • Gluten-Sensitive Enteropathy 1

  • Gluten-Sensitive Enteropathy, Susceptibility To, 1

  • Idiopathic Steatorrhea

  • Cœliac Disease

  • Gluten Intolerance

  • Gluten-Induced Enteropathy

  • Gluten Enteropathy

  • Celiac Disease, Susceptibility To, Type 1

  • Childhood Celiac Disease

  • Coeliac Rickets

  • Gee Disease

  • Gee-Herter Disease

  • Heubner-Herter Disease

  • Idiopathic Steatorrhoea

  • Thaysen'S Disease

  • Herter Gee Syndrome

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Cryptorchidism, Unilateral Or Bilateral
  • Cryptorchidism

  • Undescended Testicle

  • Undescended Testis

  • Cryptorchism

  • Undescended Testicles

  • CRYPTO

  • Impaired Testicular Descent

  • Cryptosporidiosis

  • Retained Testis

  • Unilateral Cryptorchidism

  • Unilateral Undescended Testis

  • Nondescent Unilateral Testicle

  • Unilateral Cryptorchism

  • Ectopic Testis, Unilateral

  • Bilateral Cryptorchidism

  • Bilateral Cryptorchism

  • Bilateral Nondescent Testicle

  • Bilateral Undescended Testes

  • Bilateral Ectopic Testes

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CYP21A2 MGD MGI:88591
Macaca mulatta CYP21A2 VGNC VGNC:103621
Felis catus CYP21A2 VGNC VGNC:103336
Others CYP21A2 NCBI