Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency

Description

This rare variant of congenital adrenal hyperplasia, caused by mutations in the POR gene, results in apparent combined deficiency of P450C17 (OMIM ) and P450C21 (OMIM ) and accumulation of steroid metabolites. The most striking phenotypic feature is that affected girls are born with ambiguous genitalia, indicating intrauterine androgen excess. After birth, however, virilization does not progress and amounts of circulating androgens are low or normal. Affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, sometimes suggesting the pattern seen in patients with Antley-Bixler syndrome (see {207410}) (summary by Arlt et al., 2004).

Clinical Features

Top most frequent phenotypes and symptoms related to Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency

  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Flexion contracture
  • Low-set ears
  • Hypertension
  • Frontal bossing
  • Abnormality of the skeletal system
  • Hypospadias
  • Midface retrusion
And another 69 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency have a estimated birth prevalence of 0.75 per 100k worldwide.


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Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Craniosynostosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

RECQL4, FGFR2, FGFR1, RAB23, POR, MSX2, TWIST1
Specificity
15 %
Genes
100 %
Craniosynostosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RECQL4, ALPL, FBN1, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, ASXL1, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
POR Gene Sequencing.

By GeneDx in United States.

POR
Specificity
100 %
Genes
100 %
Craniosynostosis.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

RECQL4, FGFR3, RUNX2, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, ASXL1, IFT43, IL11RA, IFT122 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
POR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

POR
Specificity
100 %
Genes
100 %
Craniosynostosis Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
100 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniosynostosis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
100 %
Craniosynostosis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, RUNX2, WDR35, RAB23, POR, MSX2, TWIST1, SKI, EFNB1, IFT43, IFT122, SPECC1L, MEGF8, ZIC1, ERF, TCF12, CD96
Specificity
6 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (sequence analysis of POR gene).

By CGC Genetics in Portugal.

POR
Specificity
100 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, SCARF2, ALX4, EFNB1, MASP1, IL11RA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (sequence analysis of POR gene).

By CGC Genetics in Portugal.

POR
Specificity
100 %
Genes
100 %
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (sequence analysis of POR gene).

By CGC Genetics in Portugal.

POR
Specificity
100 %
Genes
100 %
P450 Oxidoreductase Deficiency via POR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POR
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Adrenal hyperplasia congenital due to cytochrome P450 oxidoreductase deficiency.

By Centogene AG - the Rare Disease Company in Germany.

POR
Specificity
100 %
Genes
100 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, SKI, WDR19, ALX4, EFNB1, IFT43, IL11RA, IFT122, FREM1, MEGF8, ERF, TCF12
Specificity
5 %
Genes
100 %
POR.

By Division Human Genetics Medical University Innsbruck in Austria.

POR
Specificity
100 %
Genes
100 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, NR0B1, LHCGR, ATRX, SOX3, POR, SOX9, RIPK4, NR5A1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Invitae Antley-Bixler syndrome Test.

By Invitae in United States.

POR
Specificity
100 %
Genes
100 %
Craniosysostosis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1
Specificity
6 %
Genes
100 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
POR.

By Fulgent Genetics Fulgent Genetics in United States.

POR
Specificity
100 %
Genes
100 %
Congenital Adrenal Hyperplasia Panel.

By Blueprint Genetics in Finland.

STAR, CYP11B1, HSD3B2, CYP11A1, CYP17A1, PRKAR1A, CYP21A2, POR, ARMC5
Specificity
12 %
Genes
100 %
Premature Ovarian Failure Panel.

By Blueprint Genetics in Finland.

FOXL2, STAR, WT1, POLG, GALT, CYP17A1, LMNA, LHCGR, POR, NR5A1, GNAS, CYP19A1, NOBOX, BMP15, FSHR
Specificity
7 %
Genes
100 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis.

By Bioarray in Spain.

POR
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
ANTLEY-BIXLER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR2, POR
Specificity
50 %
Genes
100 %
Antley-Bixler (Ambiguous Genitalia) Syndrome, Sequencing POR Gene.

By Reference Laboratory Genetics in Spain.

POR
Specificity
100 %
Genes
100 %
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

FGFR3, FGFR2, FGFR1, RAB23, POR, MSX2, TWIST1, GLI3, EFNB1
Specificity
12 %
Genes
100 %
Congenital Adrenal Hyperplasia , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

STAR, CYP11B1, HSD3B2, CYP17A1, CYP21A2, POR
Specificity
17 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FMR1, FOXL2, GALT, CYP17A1, EIF2B5, LMNA, EIF2B3, EIF2B2, LHCGR, POR, NR5A1, CYP19A1, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, POF1B, GDF9 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Nonsyndromic disorders of sexual development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

STAR, HSD3B2, CYP11A1, CYP17A1, AR, LHCGR, ANOS1, POR, HSD17B3, SRD5A2, AKR1C2, CBX2
Specificity
9 %
Genes
100 %
Syndromic disorders of sexual development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WT1, ARX, DHCR7, ATRX, POR, SOX9, GATA4
Specificity
15 %
Genes
100 %

Alternate names

Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency Is also known as adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency, disordered steroidogenesis due to por deficiency;congenital adrenal hyperplasia due to cytochrome por deficiency; por deficiency; pord.



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