Cytochrome P450 Oxidoreductase Deficiency (PORD)

Categories: Bone diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Cytochrome P450 Oxidoreductase Deficiency

MalaCards integrated aliases for Cytochrome P450 Oxidoreductase Deficiency:

Name: Cytochrome P450 Oxidoreductase Deficiency 24 25
Antley-Bixler Syndrome with Disordered Steroidogenesis 25 71
Por Deficiency 24 25
Pord 24 25
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 25
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 25
Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase 25
Antley-Bixler Syndrome, Autosomal Dominant 71
Antley-Bixler Syndrome 25


External Ids:

UMLS 71 C1860042 C2936791

Summaries for Cytochrome P450 Oxidoreductase Deficiency

Genetics Home Reference : 25 Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood. The signs and symptoms of cytochrome P450 oxidoreductase deficiency vary from mild to severe. Signs and symptoms of mild cases can include a failure to begin menstruation by age 16 (primary amenorrhea), an inability to have biological children (infertility) in both men and women, and a condition called polycystic ovarian syndrome (PCOS). PCOS is characterized by a hormonal imbalance in women that can lead to irregular menstruation, acne, excess body hair (hirsutism), and weight gain. People with moderate cases of cytochrome P450 oxidoreductase deficiency may have external genitalia that do not look clearly male or female (ambiguous genitalia), and they may have infertility. People with moderate cytochrome P450 oxidoreductase deficiency usually do not have skeletal abnormalities. The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Hormonal changes in affected males and females lead to the development of ambiguous genitalia or other genital abnormalities, as well as infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and low-set ears. Other skeletal abnormalities can include joint deformities (contractures) that limit movement; unusually long, slender fingers (arachnodactyly); bowing of the thigh bones; and radiohumeral synostosis, which is a bone abnormality that locks the elbows in a bent position. A blockage of the nasal passages (choanal atresia), intellectual disability, and delayed development are also associated with the severe form of the disorder. Some women who are pregnant with fetuses affected by cytochrome P450 oxidoreductase deficiency experience mild symptoms of the disorder even though they themselves do not have the disorder. They may develop excessive body hair growth (hirsutism), acne, and a deep voice. These changes go away soon after delivery.

MalaCards based summary : Cytochrome P450 Oxidoreductase Deficiency, also known as antley-bixler syndrome with disordered steroidogenesis, is related to disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency and familial glucocorticoid deficiency. An important gene associated with Cytochrome P450 Oxidoreductase Deficiency is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Corticotropin-releasing hormone signaling pathway. Affiliated tissues include bone, testes and liver, and related phenotypes are behavior/neurological and liver/biliary system

GeneReviews: NBK1419

Related Diseases for Cytochrome P450 Oxidoreductase Deficiency

Diseases related to Cytochrome P450 Oxidoreductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 35.1 TMEM120A POR
2 familial glucocorticoid deficiency 30.7 POMC CYP21A2
3 humeroradial synostosis 30.7 POR FGFR2
4 radioulnar synostosis 30.4 POR FGFR2
5 luteoma 30.3 FGFR2 CYP21A2
6 amenorrhea 30.2 POR POMC CYP17A1
7 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 30.0 POR FGFR2
8 synostosis 30.0 POR FGFR2
9 lipoid congenital adrenal hyperplasia 29.7 POR POMC CYP21A2 CYP17A1
10 disorders of sexual development 29.7 POMC CYP21A2 CYP17A1
11 hyperandrogenism 29.7 POMC CYP21A2 CYP17A1
12 polycystic ovary syndrome 29.6 POMC CYP21A2 CYP17A1
13 odontochondrodysplasia 29.4 POR FGFR2 CYP17A1
14 hypospadias 29.1 FGFR2 CYP17A1
15 antley-bixler syndrome 28.2 POR POMC FGFR2 CYP21A2 CYP1A2 CYP17A1
16 aromatase deficiency 12.0
17 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 12.0
18 bartter syndrome, type 2, antenatal 11.6
19 bartter syndrome, type 1, antenatal 11.6
20 choanal atresia, posterior 10.8
21 pfeiffer syndrome 10.7
22 clubfoot 10.6
23 trigonocephaly 1 10.5
24 chiari malformation type ii 10.5
25 respiratory failure 10.5
26 ankylosis 10.5
27 chiari malformation 10.5
28 isolated trigonocephaly 10.5
29 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.5
30 autosomal recessive disease 10.4
31 cleft palate, isolated 10.4
32 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.4
33 jackson-weiss syndrome 10.4
34 crouzon syndrome 10.4
35 down syndrome 10.4
36 renal hypodysplasia/aplasia 1 10.4
37 alacrima, achalasia, and mental retardation syndrome 10.4
38 bone disease 10.4
39 esophageal atresia 10.4
40 hydronephrosis 10.4
41 obstructive hydrocephalus 10.4
42 hypogonadism 10.4
43 dysostosis 10.4
44 hemangioma 10.4
45 chromosomal triplication 10.4
46 congenital femoral deficiency 10.4
47 congenital hydrocephalus 10.4
48 fetal aminopterin syndrome 10.4
49 lambdoid synostosis 10.4
50 vaginal atresia 10.4

Graphical network of the top 20 diseases related to Cytochrome P450 Oxidoreductase Deficiency:

Diseases related to Cytochrome P450 Oxidoreductase Deficiency

Symptoms & Phenotypes for Cytochrome P450 Oxidoreductase Deficiency

MGI Mouse Phenotypes related to Cytochrome P450 Oxidoreductase Deficiency:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 CYP17A1 CYP1A2 CYP21A2 FGFR2 POMC POR
2 liver/biliary system MP:0005370 8.92 CYP1A2 FGFR2 POMC POR

Drugs & Therapeutics for Cytochrome P450 Oxidoreductase Deficiency

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202

Search NIH Clinical Center for Cytochrome P450 Oxidoreductase Deficiency

Genetic Tests for Cytochrome P450 Oxidoreductase Deficiency

Anatomical Context for Cytochrome P450 Oxidoreductase Deficiency

MalaCards organs/tissues related to Cytochrome P450 Oxidoreductase Deficiency:

Bone, Testes, Liver, Lung, Temporal Lobe, Fetal Lung

Publications for Cytochrome P450 Oxidoreductase Deficiency

Articles related to Cytochrome P450 Oxidoreductase Deficiency:

(show top 50) (show all 97)
# Title Authors PMID Year
P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. 61 24
27068427 2017
Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency. 61 24
27737328 2016
Pharmacogenomics of human P450 oxidoreductase. 61 24
24847272 2014
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency. 24 61
23365120 2013
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 24 61
22162478 2012
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. 24 61
19258400 2009
Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia. 24
25102973 2014
Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. 24
24585534 2014
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. 24
22019272 2011
Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites. 24
21900384 2011
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 24
21190981 2011
Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 24
20844025 2010
Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. 24
20849814 2010
Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase. 24
20697309 2010
Restoration of mutant cytochrome P450 reductase activity by external flavin. 24
20188793 2010
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. 24
19837910 2009
The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test. 24
19801957 2009
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. 24
19454579 2009
Genetic variation in human P450 oxidoreductase. 24
18930113 2009
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. 24
18957504 2009
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. 24
18559916 2008
Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. 24
18551037 2008
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. 24
18455494 2008
P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity. 24
18433346 2008
Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. 24
18230729 2008
Genetic and clinical features of p450 oxidoreductase deficiency. 24
18259105 2008
Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. 24
17595315 2007
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P. 24
17505056 2007
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. 24
17389698 2007
Benchmarking sets for molecular docking. 24
17154509 2006
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. 24
16906539 2006
Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. 24
16231320 2005
Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype. 24
16265639 2005
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 24
15793702 2005
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. 24
15483095 2005
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. 24
15316970 2004
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. 24
15264278 2004
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. 24
15266606 2004
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. 24
15220035 2004
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 24
14758361 2004
Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome. 24
14625002 2003
Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis. 24
12917333 2003
Liver-specific deletion of the NADPH-cytochrome P450 reductase gene: impact on plasma cholesterol homeostasis and the function and regulation of microsomal cytochrome P450 and heme oxygenase. 24
12697746 2003
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. 24
12116245 2002
Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase. 24
11742006 2002
Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient. 24
9332650 1997
Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia. 24
2932643 1985
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. 61
32060549 2020
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations. 61
32242900 2020
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan. 61
32321882 2020

Variations for Cytochrome P450 Oxidoreductase Deficiency

Copy number variations for Cytochrome P450 Oxidoreductase Deficiency from CNVD:

# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 180701 4 109188149 109309027 Microdeletion LEF1 Cytochrome P450 oxidoreductase deficiency

Expression for Cytochrome P450 Oxidoreductase Deficiency

Search GEO for disease gene expression data for Cytochrome P450 Oxidoreductase Deficiency.

Pathways for Cytochrome P450 Oxidoreductase Deficiency

Pathways related to Cytochrome P450 Oxidoreductase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
2 11.37 POMC CYP21A2
Show member pathways
11.3 POR CYP1A2
Show member pathways
11.08 POMC CYP21A2 CYP17A1
Show member pathways
11.05 CYP1A2 CYP17A1
Show member pathways
10.63 CYP21A2 CYP1A2 CYP17A1
Show member pathways
10.6 CYP21A2 CYP17A1

GO Terms for Cytochrome P450 Oxidoreductase Deficiency

Cellular components related to Cytochrome P450 Oxidoreductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.46 POR CYP21A2 CYP1A2 CYP17A1
2 intracellular membrane-bounded organelle GO:0043231 9.26 POR CYP21A2 CYP1A2 CYP17A1
3 organelle membrane GO:0031090 8.8 CYP21A2 CYP1A2 CYP17A1

Biological processes related to Cytochrome P450 Oxidoreductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.46 POR CYP21A2 CYP1A2 CYP17A1
2 lung development GO:0030324 9.43 FGFR2 CYP1A2
3 xenobiotic metabolic process GO:0006805 9.4 POR CYP1A2
4 electron transport chain GO:0022900 9.37 POR CYP1A2
5 post-embryonic development GO:0009791 9.32 FGFR2 CYP1A2
6 steroid biosynthetic process GO:0006694 9.26 CYP21A2 CYP17A1
7 steroid metabolic process GO:0008202 9.13 CYP21A2 CYP1A2 CYP17A1
8 glucocorticoid biosynthetic process GO:0006704 8.62 CYP21A2 CYP17A1

Molecular functions related to Cytochrome P450 Oxidoreductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 POR CYP21A2 CYP1A2 CYP17A1
2 heme binding GO:0020037 9.43 CYP21A2 CYP1A2 CYP17A1
3 electron transfer activity GO:0009055 9.37 POR CYP1A2
4 iron ion binding GO:0005506 9.33 CYP21A2 CYP1A2 CYP17A1
5 monooxygenase activity GO:0004497 9.13 CYP21A2 CYP1A2 CYP17A1
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.8 CYP21A2 CYP1A2 CYP17A1

Sources for Cytochrome P450 Oxidoreductase Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....