1. Gene
  2. NR5A1 - nuclear receptor subfamily 5 group A member 1 Gene

NR5A1 - nuclear receptor subfamily 5 group A member 1 Gene

Homo sapiens

Also known as ELP; SF1; FTZ1; POF7; SF-1; AD4BP; FTZF1; SPGF8; SRXX4; SRXY3; hSF-1

Gene ID: 2516 | Gene type: protein coding

About NR5A1

Cytogenetic location: 9q33.3 Genomic coordinates (GRCh38): 9:124,481,236-124,507,399 (from NCBI)

This gene has 4 transcripts (splice variants), 269 orthologues, 1 paralogue and is associated with 12 phenotypes. Biased expression in adrenal (RPKM 53.3), spleen (RPKM 52.8) and 2 other tissues.

Summary

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

NR5A1 Products(1)

mRNA Protein Name
NM_004959.5 NP_004950.2 steroidogenic factor 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA binding IDA
IDA: Inferred from direct assay
10567391 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
21412441 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23610160 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
17664281 GOA
enables nuclear receptor activity IDA
IDA: Inferred from direct assay
8205615 GOA
enables phospholipid binding IDA
IDA: Inferred from direct assay
17664281 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10567391 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
27378692 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
enables transcription coregulator binding IPI
IPI: Inferred from physical interaction
14701856 GOA
Biological Process GO Annotation Evidence Reference Source
involved in female gonad development IMP
IMP: Inferred from mutant phenotype
27378692 GOA
involved in male gonad development IMP
IMP: Inferred from mutant phenotype
10369247 GOA
involved in male sex determination IMP
IMP: Inferred from mutant phenotype
10369247 GOA
involved in positive regulation of gene expression IDA
IDA: Inferred from direct assay
27378692 GOA
involved in positive regulation of gene expression IMP
IMP: Inferred from mutant phenotype
23610160 GOA
involved in positive regulation of male gonad development IDA
IDA: Inferred from direct assay
21412441 GOA
involved in positive regulation of transcription by RNA polymerase II IGI
IGI: Inferred from genetic interaction
23610160 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
17664281 GOA
involved in sex determination IMP
IMP: Inferred from mutant phenotype
24405868 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
10567391 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

NR5A1 Protein Structure

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (12 - 79)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (259 - 436)

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

steroidogenic factor 1

STF-1

Related Diseases

Diseases Alias
46,Xx Sex Reversal 4

SRXX4

46,Xx Sex Reversal, Sry-Negative

46, Xx Sex Reversal 4

46,Xx Sex Reversal Sry-Negative

46,Xy Sex Reversal 3

SRXY3

46,Xy Sex Reversal, Partial Or Complete, Nr5a1-Related

46,Xy Gonadal Dysgenesis, Partial Or Complete, With Or Without Adrenal Failure

Sex Reversal, Xy, With Or Without Adrenal Failure

Disorder Of Sex Development, 46,Xy, Nr5a1-Related

46xy Sex Reversal 3

46,Xy Disorder Of Sex Development

46,Xy Sex Reversal Partial Or Complete Nr5a1-Related

Complete Or Partial 46,Xy Gonadal Dysgenesis With Or Without Adrenal Failure

Xy Sex Reversal With Or Without Adrenal Failure

Premature Ovarian Failure 7

Adrenocortical Insufficiency

POF7

Adrenal Insufficiency, Nr5a1-Related

AINR

Ovarian Failure, Premature, Type 7

Hypoaldosteronism

Adrenal Cortical Hypofunction

Adrenal Failure Nos

Hypoadrenocorticism

Adrenocortical Hypofunction

Adrenal Cortex Hypofunction

Adrenal Cortex Deficiency

Adrenal Gland Insufficiency

Adrenal Hypofunction

Adrenal Insufficiency

Suprarenal Insufficiency

Corticoadrenal Insufficiency Nos

Corticoadrenal Hypofunction

Corticoadrenal Deficiency

Hypoadrenia

Hypoadrenalism

Aldosterone Deficiency

Spermatogenic Failure 8

SPGF8

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

Syndrome With 46,Xy Disorder Of Sex Development

46,Xy Disorder Of Sex Development

Syndrome With 46,Xy Dsd

46,Xy Dsd

46,Xy Dsd Due To A Defect In Testosterone Metabolism

Androgen Resistance Syndrome

Testicular Feminization Syndrome

Androgen Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Morris Syndrome

Male Pseudohermaphroditism With Androgen Resistance

Peripheral Androgen Receptor Disorder

Goldberg-Morris Syndrome

Syndrome Of Feminising Testes

Syndrome Of Feminizing Testes

Testicular Feminisation

Testicular Feminisation Syndrome

Male Pseudohermaphroditism With Feminizing Testis

Tfm - [Testicular Feminisation Syndrome]

Spermatogenic Failure 1

Oligosynaptic Infertility

SPGF1

Oligochiasmatic Infertility

Oligochiasmic Infertility

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

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

46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development

46,Xx Gonadal Dysgenesis

SRXX1

46,Xx Gonadal Dysgenesis, Complete, Sry-Positive

46,Xx Testicular Dsd

Xx Male Syndrome

46,Xx Complete Gonadal Dysgenesis

46,Xx Pure Gonadal Dysgenesis

Follicular Stimulating Hormone-Resistant Ovaries

Hypergonadotropic Ovarian Dysgenesis

Ovotesticular Disorder Of Sex Development

46,Xx Sex Reversal, Sry-Positive

Xx Male, Sry-Positive

46xx Sex Reversal 1

46, Xx Gonadal Sex Reversal

Xx Sex Reversal

46,Xx Ovarian Dysgenesis

Fsh-Ro

Xx Female Gonadal Dysgenesis

Xx-Gd

46,Xx Ovotesticular Disorder Of Sex Development

46,Xx Ovotesticular Dsd

De La Chapelle Syndrome

Xx, Male Syndrome

46,Xx Gonadal Dysgenesis Complete Sry-Positive

46,Xx Sex Reversal Sry-Positive

46,Xx True Hermaphroditism Sry-Positive

Ovotesticular Dsd

Xx Male Sry-Positive

Ovotesticular Disorders Of Sex Development

46, Xx Testicular Disorders Of Sex Development

Resistant Ovary Syndrome

Dysgenetic Ovaries

Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]

True Hermaphroditism

Ovotestis

True Hermaphrodite

Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Genetic Non-Acquired Premature Ovarian Failure
Amenorrhea

Absence Of Menstruation

Amenia

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]

Infertility
46,Xx Sex Reversal

46,Xx Testicular Disorder Of Sex Development

46,Xx Testicular Dsd

De La Chapelle Syndrome

Srxx

Xx, Male Syndrome

46, Xx Testicular Disorders Of Sex Development

Sex Cord-Gonadal Stromal Tumor

Sex Cord-Gonadal Stromal Tumour

Sex Cord Stromal Tumour

Sex Cord-Stromal Neoplasm

Specialized Gonadal Neoplasm

Specialized Gonadal Tumor

Specialized Gonadal Tumour

Sex Cord-Gonadal Stromal Tumors

Sex Cord-Stromal Tumor

Malignant Testicular Sex Cord-Stromal Tumor

Sex Cord Stromal Tumor Of Testis

Gonadal Agenesis
Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Adenoma Adrenocortical

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

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

Hypospadias

Hypospadias Familial

Familial Hypospadias

Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dhtr Deficiency

Dihydrotestosterone Receptor Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos

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

Denys-Drash Syndrome

Drash Syndrome

DDS

Nephropathy, Wilms Tumor, And Genital Anomalies

Wilms Tumor And Pseudohermaphroditism

Wilms Tumor And Pseudo- Or True Hermaphroditism

Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor

Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor

Wilms Tumor-Dsd Syndrome

Wilms Tumor-Disorder Of Sex Development 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

Sertoli Cell Tumor

Tubular Androblastoma

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

Endometriosis

Endometriosis, Site Unspecified

Endometrial Ectopia

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Embryonal Carcinoma

Embryonal Neoplasm

Embryonal Cancer

Primary Extragonadal Embryonal Carcinoma

Embryo Neoplasm

Carcinoma Embryonal

Cancer Embryonal

Carcinoma, Embryonal

Extragonadal Embryonal Carcinoma

Cancer, Embryonal

Leydig Cell Tumor

Leydig Cell Neoplasm

Tumor, Leydig Cell

Leydig Cell Tumor, Benign

Phacolytic Glaucoma
Mixed Gonadal Dysgenesis

Gonadal Dysgenesis Mixed

Gonadal Dysgenesis, Mixed

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

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

Leydig Cell Hypoplasia

46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency

46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency

46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

46,Xy Disorder Of Sex Development Due To Lh Defects

Lh Resistance Due To Lh Receptor Deactivation

Leydig Cell Agenesis

Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect

Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency

Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

Lch

Hypoplasia, Leydig Cell

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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

Craniopharyngioma

Neoplasm Of Rathke'S Pouch

Adamantinomatous Tumor

Craniopharyngeal Duct Tumor

Dysodontogenic Epithelial Tumor

Rathke'S Pouch Tumor

Androgen Insensitivity, Partial

Partial Androgen Insensitivity Syndrome

Reifenstein Syndrome

PAIS

Androgen Insensitivity, Partial, With Or Without Breast Cancer

Familial Incomplete Male Pseudohermaphroditism, Type 1

Androgen Insensitivity Syndrome, Partial

Androgen Resistance Syndrome, Partial

Reifenstein Syndrome, Partial

Partial Androgen Resistance Syndrome

Androgen Insensitivity Partial With Or Without Breast Cancer

Androgen Insensitivity Syndrome Partial

Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome

Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome

BPES

Blepharophimosis Syndrome

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Bpes With Duane Retraction Syndrome

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2

Bpes Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus

3q23 Microdeletion Syndrome

Bpes Plus

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1

Bpes Type 1

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure

Blepharophimosis, Ptosis, Epicanthus Inversus

Autosomal Dominant Bpes Type I

Autosomal Recessive Bpes Type I

Bpes Type I

Bpes Type Ii

Bpes Without Ovarian Failure

Bpes With Ovarian Failure

Blepharophimosis Syndrome Type 1

Blepharophimosis Syndrome Type 2

Adrenal Cortex Disease

Adrenal Cortex Diseases

Ovarian Sex-Cord Stromal Tumor

Ovarian Sex Cord Tumor With Annular Tubules

Ovarian Sex Cord-Stromal Tumor

Stromal Tumor Of Ovary

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

Testicular Fibroma
Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

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

Regular Astigmatism
Adrenal Cortical Hypofunction

Adrenal Cortical Insufficiency

Corticoadrenal Insufficiency

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Steroid Inherited Metabolic Disorder

Steroid Metabolism, Inborn Errors

Glycerol Kinase Deficiency

Hyperglycerolemia

GKD

Gk Deficiency

Gk1 Deficiency

Deficiency Of Glycerol Kinase

Isolated Glycerol Kinase Deficiency

Glycerol Kinase Deficiency, Adult Form

Glycerol Kinase Deficiency, Juvenile Form

Deficiency, Glycerol Kinase

46,Xy Sex Reversal 9

SRXY9

46,Xy Sex Reversal, Zfpm2-Related

46xy Sex Reversal 9

45,X/46,Xy Mixed Gonadal Dysgenesis

45,X/46,Xy Mgd

45,X0/46,Xy Mgd

45,X0/46,Xy Mixed Gonadal Dysgenesis

Adrenal Gland Disease

Adrenal Gland Diseases

Adrenal Gland Disorders

Complete Androgen Insensitivity Syndrome

Cais

Complete Androgen Resistance Syndrome

Androgen Insensitivity Syndrome Complete

Androgen Insensitivity, Complete

Androgen-Insensitivity Syndrome

Testicular Feminization

Frasier Syndrome

FS

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

Gonadoblastoma

GBY

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

Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Exstrophy-Epispadias Complex

Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex

Beec

Eec

Exstrophy Of The Bladder

Bladder Exstrophy

Bladder Exstrophy And Epispadias Complex

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

17-Ksr Deficiency

Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

Pseudohermaphroditism, Male, With Gynecomastia

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

Testosterone 17-Beta-Dehydrogenase Deficiency

17-Ketosteroid Reductase Deficiency Of Testis

17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

17-Ketoreductase Deficiency

17-Ketosteroidreductase Deficiency

46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

Male Pseudohermaphroditism With Gynecomastia

17 Alpha Ksr Deficiency

17 Alpha Ketosteroid Reductase Deficiency Of Testis

17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Male Pseudoherma-Phroditism With Gynecomastia

Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency

Male Pseudohermaphrodism With Gynecomastia

MPH

17-Hydroxysteroid Dehydrogenase Deficiency

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

Juvenile Type Testicular Granulosa Cell Tumor

Juvenile Granulosa Cell Tumor

Juvenile Granulosa Cell Tumour

Juvenile Type Granulosa Cell Neoplasm

Juvenile Type Granulosa Cell Tumor

Juvenile Type Granulosa Cell Tumour

Juvenile Type Testicular Granulosa Cell Tumour

Hermaphroditism
Campomelic Dysplasia

Acampomelic Campomelic Dysplasia

Camptomelic Dysplasia

Campomelic Dysplasia With Autosomal Sex Reversal

Cmpd

CMD1

Cmpd1

Cmpd1/Sra1

Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

Campomelic Dwarfism

Campomelic Syndrome

Dysplasia, Campomelic

Chronic Myeloproliferative Disorder

Familial Dilated Cardiomyopathy

Spermatogenic Failure 10

SPGF10

Spermatogenic Failure With Defective Sperm Annulus

Carney Complex Variant

Carney Complex

Carney Syndrome

Carney Complex, Type 1

Lamb Syndrome

Name Syndrome

Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

Carney Complex - Trismus - Pseudocamptodactyly Syndrome

Carney Complex, Type 2

Car

Cnc1

Carney Myxoma-Endocrine Complex

Myxoma - Spotty Pigmentation - Endocrine Overactivity

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Carney Complex-Trismus-Pseudocamptodactyly Syndrome

CACOV

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13

WAGR

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

Del(11)(P13)

Monosomy 11p13

Chromosome 11, Deletion 11p

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens

CBAVD

Cavd

Congenital Bilateral Aplasia Of Vas Deferens

Congenital Bilateral Absence Of The Vas Deferens

Congenital Bilateral Agenesis Of Vas Deferens

Absence Of Vas Deferens

Absent Vasa

Congenital Absence Of Vas Deferens

Congenital Aplasia Of Vas Deferens

Absent Vas Deferens

Vas Deferens, Congenital Bilateral Absence

Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]

Amelogenesis Imperfecta, Type Ig

Enamel-Renal Syndrome

Ers

Amelogenesis Imperfecta Type 1g

AI1G

Enamel-Renal-Gingival Syndrome

Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome

Aigfs

Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis

Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis

Amelogenesis Imperfecta Type Ig

Amelogenesis Imperfecta-Nephrocalcinosis Syndrome

Amelogenesis Imperfecta 1g

Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis

Amelogenesis Imperfecta Nephrocalcinosis

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

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

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
Felis catus NR5A1 VGNC VGNC:68557
Mus musculus NR5A1 MGD MGI:1346833
Macaca mulatta NR5A1 VGNC VGNC:75520
Canis familiaris NR5A1 VGNC VGNC:55711
Bos taurus NR5A1 VGNC VGNC:32248
Rattus norvegicus NR5A1 RGD RGD:68350
Others NR5A1 NCBI