1. Gene
  2. CYP21A2 - cytochrome P450 family 21 subfamily A member 2 Gene

CYP21A2 - cytochrome P450 family 21 subfamily A member 2 Gene

中文名称:细胞色素 P450 家族 21 亚家族 A 成员 2

种属: Homo sapiens

同用名: CAH1; CPS1; CA21H; CYP21; CYP21B; P450c21B

基因 ID: 1589 | 基因类型: protein coding

关于 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).

功能概要

该基因编码细胞色素 P450 酶超家族的成员。细胞色素 P450 蛋白是单加氧酶,可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。该蛋白质定位于内质网并在 21 位羟基化类固醇。它的活性是合成类固醇激素 (包括皮质醇和醛固酮) 所必需的。该基因的突变会导致先天性肾上腺增生。一个相关的假基因位于该基因附近;涉及功能基因和假基因的基因转换事件被认为是许多类固醇 21-羟化酶缺乏症的原因。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 17-hydroxyprogesterone 21-hydroxylase activity IDA
IDA: 通过直接分析推断
25855791 GOA
enables heme binding IDA
IDA: 通过直接分析推断
25855791 GOA
enables progesterone 21-hydroxylase activity IDA
IDA: 通过直接分析推断
25855791 GOA
enables steroid hydroxylase activity IMP
IMP: 通过突变表型推断
16984992 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in steroid biosynthetic process IDA
IDA: 通过直接分析推断
25855791 GOA
involved in steroid metabolic process IMP
IMP: 通过突变表型推断
16984992 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CYP21A2 蛋白结构

p450

p450: Cytochrome P450 (48 - 478)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 494 a.a.
蛋白主名 其他名称

steroid 21-hydroxylase

21-OHase

重组 CYP21A2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71728 CYP21A2 Protein, Human (P.pastoris, His) P08686 (M1-Q494) ≥95%
HY-P72164 CYP21A2 Protein, Human (His) P08686 (M1-Q494) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CYP21A2 MGD MGI:88591
Macaca mulatta CYP21A2 VGNC VGNC:103621
Felis catus CYP21A2 VGNC VGNC:103336
Others CYP21A2 NCBI