NR0B1 gene related symptoms and diseases

All the information presented here about the NR0B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NR0B1 gene

Symptoms // Phenotype % Cases
Primary amenorrhea Common - Between 50% and 80% cases
Gonadal dysgenesis Common - Between 50% and 80% cases
Adrenal insufficiency Common - Between 50% and 80% cases
Decreased testicular size Uncommon - Between 30% and 50% cases
Hypogonadotrophic hypogonadism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NR0B1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Absence of secondary sex characteristics
  • Clitoral hypertrophy
  • Ambiguous genitalia
  • Amenorrhea
  • Hypospadias
  • Gonadoblastoma
  • Azoospermia
  • Sex reversal

And 78 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NR0B1 gene

Here you will find a list of rare diseases related to the NR0B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT


Alternate names

46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT Is also known as de la chapelle syndrome, 46,xx testicular dsd, xx, male syndrome

Description

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.

Most common symptoms of 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT

  • Decreased testicular size
  • Ambiguous genitalia
  • Polycystic ovaries
  • Male hypogonadism


More info about 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT

SOURCES: ORPHANET

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA


Alternate names

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch, cytomegalic adrenocortical hypoplasia, x-linked congenital adrenal hypoplasia, adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, ahc with isolated gonadotropin deficiency, addison disease, x-linked, ahx, ahc with hhg

Description

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

Most common symptoms of CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

SOURCES: OMIM ORPHANET

46,XY COMPLETE GONADAL DYSGENESIS


Alternate names

46,XY COMPLETE GONADAL DYSGENESIS Is also known as 46,xy sex reversal, sry-related, 46,xy pure gonadal dysgenesis, 46,xy gonadal dysgenesis, complete, sry-related, 46,xy cgd, swyer syndrome

Description

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.

Most common symptoms of 46,XY COMPLETE GONADAL DYSGENESIS

  • Neoplasm
  • Hypospadias
  • Infertility
  • Amenorrhea
  • Primary amenorrhea


More info about 46,XY COMPLETE GONADAL DYSGENESIS

SOURCES: OMIM ORPHANET

46,XY SEX REVERSAL 2; SRXY2


Alternate names

46,XY SEX REVERSAL 2; SRXY2 Is also known as dss, 46,xy sex reversal, dax1-related, dosage-sensitive sex reversal

Most common symptoms of 46,XY SEX REVERSAL 2; SRXY2

  • Intellectual disability
  • Amenorrhea
  • Primary amenorrhea
  • Adrenal insufficiency
  • Gonadal dysgenesis


More info about 46,XY SEX REVERSAL 2; SRXY2

SOURCES: OMIM MESH

46,XY PARTIAL GONADAL DYSGENESIS


Alternate names

46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis, 46,xy pgd

Description

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

Most common symptoms of 46,XY PARTIAL GONADAL DYSGENESIS

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis


More info about 46,XY PARTIAL GONADAL DYSGENESIS

SOURCES: ORPHANET


Potential gene panels for NR0B1 gene

Primary Adrenal Insufficiency Evaluation Panel

United States.

By Athena Diagnostics Inc Primary Adrenal Insufficiency Evaluation that also includes the following genes: AIRE ABCD1 NR0B1

More info about this panel

NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the NR0B1 gene.

More info about this panel

Isolated X-Linked Adrenal Hypoplasia Congenita Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the NR0B1 gene.

More info about this panel

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41

More info about this panel

Hypogonadotropic Hypogonadism Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypogonadotropic Hypogonadism Sequencing Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17

More info about this panel

Hypogonadotropic Hypogonadism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypogonadotropic Hypogonadism Deletion/Duplication Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17

More info about this panel

NR0B1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NR0B1 gene.

More info about this panel

NR0B1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NR0B1 gene.

More info about this panel

Congenital adrenal hypoplasia (deletion/duplication analysis of NR0B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NR0B1 gene.

More info about this panel

Congenital adrenal hypoplasia (sequence analysis of DAX1/NR0B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NR0B1 gene.

More info about this panel

Congenital adrenal hypoplasia (sequence analysis of DAX1/NR0B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NR0B1 gene.

More info about this panel

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel

X-linked adrenal hypoplaisa congenita (ACH) Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the NR0B1 gene.

More info about this panel

Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2

More info about this panel

NR0B1-Related Disorders via NR0B1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NR0B1 gene.

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2

More info about this panel

Adrenal hypoplasia, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NR0B1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the NR0B1 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

qGenEx Sex development disorders Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1

More info about this panel

Invitae Disorders of Male Sex Development Panel Panel

United States.

By Invitae Invitae Disorders of Male Sex Development Panel that also includes the following genes: SRD5A2 SRY WT1 DHH AR MAP3K1 NR0B1 NR5A1

More info about this panel

Adrenal hypoplasia congenita, X-linked: NR0B1 (DAX1) gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NR0B1 gene.

More info about this panel

Adrenal hypoplasia congenita, X-linked: NR0B1 (DAX1) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NR0B1 gene.

More info about this panel

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel that also includes the following genes: TAC3 TACR3 PROKR2 CHD7 NSMF FGF8 FGFR1 GNRH1 GNRHR KISS1R

More info about this panel

NR0B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NR0B1 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4

More info about this panel

X-linked congenital adrenal hypoplasia Panel

Spain.

By Bioarray

This panel specifically test the NR0B1 gene.

More info about this panel

X-linked congenital adrenal hypoplasia Panel

Spain.

By Bioarray

This panel specifically test the NR0B1 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

CONGENITAL ADRENAL HYPOPLASIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NR0B1 gene.

More info about this panel

X-Linked Congenital Adrenal Hypoplasia , Sequencing NR0B1 (DAX1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NR0B1 gene.

More info about this panel

X-Linked Congenital Adrenal Hypoplasia , Deletions-Duplications (MLPA) NR0B1 (DAX1)Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NR0B1 gene.

More info about this panel

Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 PROKR2 PROK2 CHD7 NSMF POLR3B FGF8

More info about this panel

Congenital adrenal hypoplasia, X-linked Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the NR0B1 gene.

More info about this panel

Tempus xO assay Panel

United States.

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

More info about this panel

Adrenal Hypoplasia Congenita: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the NR0B1 gene.

More info about this panel


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