PORD
MCID: CYT014
MIFTS: 41

Cytochrome P450 Oxidoreductase Deficiency (PORD)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Reproductive diseases
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Aliases & Classifications for Cytochrome P450 Oxidoreductase Deficiency

MalaCards integrated aliases for Cytochrome P450 Oxidoreductase Deficiency:

Name: Cytochrome P450 Oxidoreductase Deficiency 11 24 42 14 75
Por Deficiency 24 42 5
Antley-Bixler Syndrome with Disordered Steroidogenesis 42 71
Pord 24 42
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 42
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 42
Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase 42
Antley-Bixler Syndrome, Autosomal Dominant 71
Antley-Bixler Syndrome 42

Classifications:



External Ids:

Disease Ontology 11 DOID:0080925
NCIt 49 131302
UMLS 71 C1860042 C2936791

Summaries for Cytochrome P450 Oxidoreductase Deficiency

MedlinePlus Genetics: 42 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 por deficiency, is related to antley-bixler syndrome and luteoma. An important gene associated with Cytochrome P450 Oxidoreductase Deficiency is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include placenta, ovary and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance

Disease Ontology: 11 A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has material basis in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.

Wikipedia: 75 Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease and inborn error of metabolism caused... more...

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 121)
# Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome 30.6 POR CYP21A2 CYP19A1 CYP17A1
2 luteoma 30.5 CYP21A2 CYP19A1
3 craniosynostosis 30.3 POR CYP21A2 CYP17A1
4 familial glucocorticoid deficiency 30.2 HSD3B2 CYP21A2 CYP17A1 CYP11B1
5 premature menopause 29.8 POR CYP21A2 CYP19A1 CYP17A1
6 hyperandrogenism 29.8 HSD3B2 CYP21A2 CYP19A1 CYP17A1
7 polycystic ovary syndrome 29.8 HSD3B2 CYP21A2 CYP19A1 CYP17A1
8 cryptorchidism, unilateral or bilateral 29.6 HSD3B2 HSD17B1 CYP21A2 CYP19A1 CYP17A1
9 disorder of sexual development 28.7 POR HSD3B2 HSD17B1 CYP21A2 CYP19A1 CYP17A1
10 lipoid congenital adrenal hyperplasia 28.6 POR HSD3B2 HSD17B1 CYP21A2 CYP19A1 CYP17A1
11 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 12.1
12 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 11.9
13 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 11.6
14 bartter syndrome, type 2, antenatal 11.3
15 bartter syndrome, type 1, antenatal 11.3
16 antley-bixler syndrome without genital anomaly or disorder of steroidogenesis 11.3
17 choanal atresia, posterior 10.6
18 hypertelorism, microtia, facial clefting syndrome 10.6
19 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.5
20 premature ovarian failure 7 10.5
21 humeroradial synostosis 10.5
22 pfeiffer syndrome 10.5
23 amenorrhea 10.4
24 trigonocephaly 1 10.3
25 chiari malformation type ii 10.3
26 clubfoot 10.3
27 ankylosis 10.3
28 radioulnar synostosis 10.3
29 chiari malformation 10.3
30 down syndrome 10.3
31 pseudovaginal perineoscrotal hypospadias 10.3
32 aromatase deficiency 10.3
33 synostosis 10.3
34 osteochondrodysplasia 10.3
35 ovarian cyst 10.3
36 vesicoureteral reflux 10.3
37 penis agenesis 10.3
38 ankyloglossia with or without tooth anomalies 10.2
39 cleft palate, isolated 10.2
40 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
41 jackson-weiss syndrome 10.2
42 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
43 neural tube defects 10.2
44 renal hypodysplasia/aplasia 1 10.2
45 spondylocostal dysostosis 1, autosomal recessive 10.2
46 bone disease 10.2
47 esophageal atresia 10.2
48 meningocele 10.2
49 tethered spinal cord syndrome 10.2
50 hydronephrosis 10.2

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

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

25 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.75 CYP21A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 CYP21A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.75 HSD17B1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.75 CYP21A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.75 CYP21A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.75 AKR7A3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.75 CYP21A2 HSD17B1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.75 AKR7A3 HSD17B1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.75 AKR7A3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.75 CYP21A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.75 CYP21A2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.75 CYP21A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.75 CYP21A2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.75 CYP21A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.75 CYP21A2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.75 AKR7A3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.75 AKR7A3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.75 HSD17B1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.75 AKR7A3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 CYP21A2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.75 AKR7A3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.75 HSD17B1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.75 AKR7A3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.75 CYP21A2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.75 AKR7A3
26 Decreased shRNA abundance GR00251-A-1 9.43 CYP19A1
27 Decreased shRNA abundance GR00251-A-2 9.43 CYP19A1
28 Decreased shRNA abundance GR00297-A 9.43 AKR7A3 CYP19A1 HSD17B6 HSD3B2

MGI Mouse Phenotypes related to Cytochrome P450 Oxidoreductase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 AKR1C4 AKR7A3 CYP11B1 CYP17A1 CYP19A1 CYP21A2

Drugs & Therapeutics for Cytochrome P450 Oxidoreductase Deficiency

Search Clinical Trials, NIH Clinical Center for Cytochrome P450 Oxidoreductase Deficiency

Genetic Tests for Cytochrome P450 Oxidoreductase Deficiency

Anatomical Context for Cytochrome P450 Oxidoreductase Deficiency

Organs/tissues related to Cytochrome P450 Oxidoreductase Deficiency:

MalaCards : Placenta, Ovary, Bone, Temporal Lobe, Fetal Lung, Liver, Lung

Publications for Cytochrome P450 Oxidoreductase Deficiency

Articles related to Cytochrome P450 Oxidoreductase Deficiency:

(show top 50) (show all 235)
# Title Authors PMID Year
1
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. 62 24 5
18559916 2008
2
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 62 24 5
15793702 2005
3
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. 62 24 5
15483095 2005
4
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 62 24 5
14758361 2004
5
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. 62 24 5
12116245 2002
6
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. 24 5
15220035 2004
7
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. 62 5
16470797 2006
8
Antley-Bixler syndrome with radioulnar synostosis. 62 5
14513299 2004
9
NGS targeted screening of 100 Scandinavian patients with coronal synostosis. 5
31837199 2020
10
P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. 62 24
27068427 2017
11
Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency. 62 24
27737328 2016
12
Pharmacogenomics of human P450 oxidoreductase. 62 24
24847272 2014
13
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency. 62 24
23365120 2013
14
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 62 24
22162478 2012
15
Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites. 62 24
21900384 2011
16
Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 62 24
20844025 2010
17
Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. 62 24
20849814 2010
18
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. 62 24
19837910 2009
19
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. 62 24
19258400 2009
20
Genetic variation in human P450 oxidoreductase. 62 24
18930113 2009
21
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. 62 24
18455494 2008
22
Genetic and clinical features of p450 oxidoreductase deficiency. 62 24
18259105 2008
23
Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. 62 24
17595315 2007
24
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P. 62 24
17505056 2007
25
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. 62 24
17389698 2007
26
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. 62 24
16906539 2006
27
Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. 62 24
16231320 2005
28
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. 62 24
15266606 2004
29
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. 62 24
15316970 2004
30
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. 62 24
15264278 2004
31
Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome. 62 24
14625002 2003
32
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. 5
9360545 1997
33
Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia. 24
25102973 2014
34
Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. 24
24585534 2014
35
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. 24
22019272 2011
36
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 24
21190981 2011
37
Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase. 24
20697309 2010
38
Restoration of mutant cytochrome P450 reductase activity by external flavin. 24
20188793 2010
39
The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test. 24
19801957 2009
40
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. 24
19454579 2009
41
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. 24
18957504 2009
42
Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. 24
18551037 2008
43
P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity. 24
18433346 2008
44
Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. 24
18230729 2008
45
Benchmarking sets for molecular docking. 24
17154509 2006
46
Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype. 24
16265639 2005
47
Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis. 24
12917333 2003
48
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
49
Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase. 24
11742006 2002
50
Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient. 24
9332650 1997

Variations for Cytochrome P450 Oxidoreductase Deficiency

ClinVar genetic disease variations for Cytochrome P450 Oxidoreductase Deficiency:

5 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POR NM_001395413.1(POR):c.1466T>A (p.Val489Glu) SNV Pathogenic
16901 rs28931606 GRCh37: 7:75614973-75614973
GRCh38: 7:75985655-75985655
2 POR NM_001395413.1(POR):c.722+1G>A SNV Pathogenic
16905 rs786205099 GRCh37: 7:75610925-75610925
GRCh38: 7:75981607-75981607
3 POR NM_001395413.1(POR):c.1320dup (p.Ile441fs) DUP Pathogenic
16910 rs786205875 GRCh37: 7:75614450-75614451
GRCh38: 7:75985132-75985133
4 POR NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys) SNV Pathogenic
16911 rs121912975 GRCh37: 7:75615304-75615304
GRCh38: 7:75985986-75985986
5 POR NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg) DEL Pathogenic
16912 rs786205876 GRCh37: 7:75615496-75615519
GRCh38: 7:75986178-75986201
6 POR NM_001395413.1(POR):c.559_571dup (p.Arg191fs) DUP Pathogenic
16914 rs786205878 GRCh37: 7:75610416-75610417
GRCh38: 7:75981098-75981099
7 POR NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) SNV Pathogenic
16915 rs121912976 GRCh37: 7:75615113-75615113
GRCh38: 7:75985795-75985795
8 POR NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter) SNV Pathogenic
691923 rs373613946 GRCh37: 7:75614941-75614941
GRCh38: 7:75985623-75985623
9 POR NM_001395413.1(POR):c.1361G>A (p.Arg454His) SNV Pathogenic
16907 rs28931608 GRCh37: 7:75614497-75614497
GRCh38: 7:75985179-75985179
10 POR NM_001395413.1(POR):c.1477T>C (p.Trp493Arg) SNV Likely Pathogenic
1679929 GRCh37: 7:75614984-75614984
GRCh38: 7:75985666-75985666
11 POR NM_001395413.1(POR):c.850G>C (p.Ala284Pro) SNV Conflicting Interpretations Of Pathogenicity
16902 rs121912974 GRCh37: 7:75612866-75612866
GRCh38: 7:75983548-75983548
12 POR NM_001395413.1(POR):c.1882G>A (p.Val628Ile) SNV Uncertain Significance
284175 rs145782750 GRCh37: 7:75615552-75615552
GRCh38: 7:75986234-75986234
13 POR NM_001395413.1(POR):c.821+2dup DUP Uncertain Significance
360704 rs886062440 GRCh37: 7:75611641-75611642
GRCh38: 7:75982323-75982324
14 POR NM_001395413.1(POR):c.*147CTC[1] MICROSAT Uncertain Significance
360727 rs886062444 GRCh37: 7:75615944-75615946
GRCh38: 7:75986626-75986628
15 POR NM_001395413.1(POR):c.508-14_508-13del DEL Likely Benign
360700 rs72557912 GRCh37: 7:75610352-75610353
GRCh38: 7:75981034-75981035
16 POR NM_001395413.1(POR):c.1058-13C>G SNV Benign
138789 rs4732516 GRCh37: 7:75614082-75614082
GRCh38: 7:75984764-75984764
17 POR NM_001395413.1(POR):c.1446T>C (p.Ala482=) SNV Benign
138790 rs2228104 GRCh37: 7:75614953-75614953
GRCh38: 7:75985635-75985635
18 POR NM_001395413.1(POR):c.1239+12C>T SNV Benign
256838 rs2286822 GRCh37: 7:75614288-75614288
GRCh38: 7:75984970-75984970
19 POR NM_001395413.1(POR):c.378A>G (p.Pro126=) SNV Benign
256842 rs1135612 GRCh37: 7:75609677-75609677
GRCh38: 7:75980359-75980359
20 POR NM_001395413.1(POR):c.6A>G (p.Gly2=) SNV Benign
16913 rs10262966 GRCh37: 7:75583325-75583325
GRCh38: 7:75954007-75954007
21 POR NM_001395413.1(POR):c.1390-33G>T SNV Benign
1293474 GRCh37: 7:75614864-75614864
GRCh38: 7:75985546-75985546
22 POR NM_001395413.1(POR):c.1390-34T>C SNV Benign
1293480 GRCh37: 7:75614863-75614863
GRCh38: 7:75985545-75985545

Copy number variations for Cytochrome P450 Oxidoreductase Deficiency from CNVD:

6
# 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:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 AKR1C4 AKR7A3 CYP11B1 CYP17A1 CYP19A1 CYP21A2
2
Show member pathways
12.75 POR CYP21A2 CYP19A1 CYP17A1 CYP11B1 AKR7A3
3
Show member pathways
12.49 CYP21A2 CYP19A1 CYP17A1 CYP11B1
4
Show member pathways
12.47 POR CYP21A2 CYP19A1 CYP17A1 CYP11B1
5
Show member pathways
12.29 HSD17B6 HSD17B1 AKR1C4
6
Show member pathways
12.26 HSD3B2 HSD17B1 CYP21A2 CYP19A1 CYP17A1 CYP11B1
7 12.23 HSD17B6 CYP19A1 CYP17A1
8 11.66 HSD3B2 CYP21A2 CYP11B1
9
Show member pathways
11.42 HSD17B6 HSD17B1
10
Show member pathways
11.42 HSD3B2 HSD17B1 CYP21A2 CYP19A1 CYP17A1 CYP11B1
11
Show member pathways
11.39 HSD3B2 HSD17B1 CYP19A1 CYP17A1 CYP11B1
12 11.15 CYP21A2 CYP19A1 CYP17A1 CYP11B1
13
Show member pathways
11.08 HSD17B1 CYP19A1
14
Show member pathways
10.96 AKR7A3 AKR1C4
15
Show member pathways
10.41 POR HSD3B2
16
Show member pathways
10.34 HSD17B1 CYP19A1
17 10.18 HSD17B1 CYP19A1
18 10.06 HSD17B1 CYP19A1
19 10.06 POR HSD3B2 HSD17B6 CYP17A1 AKR1C4

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 GO:0005783 9.85 POR HSD3B2 HSD17B6 CYP21A2 CYP19A1 CYP17A1
2 endoplasmic reticulum membrane GO:0005789 9.7 POR HSD3B2 CYP21A2 CYP19A1 CYP17A1 CYP11B1
3 intracellular membrane-bounded organelle GO:0043231 9.28 POR HSD3B2 HSD17B6 CYP21A2 CYP19A1 CYP17A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.91 HSD17B6 CYP21A2 CYP17A1 CYP11B1 AKR1C4
2 sterol metabolic process GO:0016125 9.88 CYP21A2 CYP19A1 CYP11B1
3 androgen biosynthetic process GO:0006702 9.85 HSD3B2 HSD17B6 CYP17A1
4 electron transport chain GO:0022900 9.85 AKR1C4 AKR7A3 CYP19A1 HSD17B6 POR
5 cellular response to peptide hormone stimulus GO:0071375 9.81 POR CYP11B1
6 estrogen biosynthetic process GO:0006703 9.8 HSD17B1 CYP19A1
7 glucocorticoid biosynthetic process GO:0006704 9.8 CYP11B1 CYP17A1 CYP21A2
8 progesterone metabolic process GO:0042448 9.78 CYP17A1 AKR1C4
9 testosterone biosynthetic process GO:0061370 9.76 HSD17B1 CYP19A1
10 androgen catabolic process GO:0006710 9.73 HSD17B6 CYP19A1
11 androgen metabolic process GO:0008209 9.7 CYP19A1 AKR1C4
12 lipid metabolic process GO:0006629 9.56 HSD3B2 HSD17B6 HSD17B1 CYP21A2 CYP19A1 CYP17A1
13 steroid biosynthetic process GO:0006694 9.36 HSD3B2 HSD17B1 CYP21A2 CYP19A1 CYP17A1 CYP11B1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 10.08 CYP21A2 CYP19A1 CYP17A1 CYP11B1
2 iron ion binding GO:0005506 10.06 CYP11B1 CYP17A1 CYP19A1 CYP21A2
3 17-beta-hydroxysteroid dehydrogenase (NAD+) activity GO:0044594 9.91 HSD17B6 HSD17B1 AKR1C4
4 oxygen binding GO:0019825 9.89 CYP19A1 CYP17A1
5 steroid hydroxylase activity GO:0008395 9.88 CYP21A2 CYP19A1
6 steroid binding GO:0005496 9.88 HSD17B1 CYP21A2
7 aldo-keto reductase (NADP) activity GO:0004033 9.87 AKR7A3 AKR1C4
8 androstan-3-alpha,17-beta-diol dehydrogenase activity GO:0047044 9.85 HSD17B6 AKR1C4
9 androsterone dehydrogenase activity GO:0047023 9.84 AKR1C4 HSD17B6
10 5alpha-androstane-3beta,17beta-diol dehydrogenase activity GO:0047024 9.83 HSD17B6 AKR1C4
11 dihydrotestosterone 17-beta-dehydrogenase activity GO:0035410 9.8 HSD17B1 AKR1C4
12 testosterone 17-beta-dehydrogenase (NADP+) activity GO:0047045 9.8 HSD17B6 HSD17B1 AKR1C4
13 steroid dehydrogenase activity GO:0016229 9.73 HSD17B6 AKR1C4
14 testosterone dehydrogenase (NAD+) activity GO:0047035 9.73 AKR1C4 HSD17B1 HSD17B6
15 estradiol 17-beta-dehydrogenase activity GO:0004303 9.71 HSD17B6 HSD17B1 AKR1C4
16 testosterone dehydrogenase [NAD(P)] activity GO:0030283 9.69 HSD17B1 AKR1C4
17 monooxygenase activity GO:0004497 9.67 CYP21A2 CYP19A1 CYP17A1 CYP11B1
18 electron transfer activity GO:0009055 9.65 POR HSD17B6 CYP19A1 AKR7A3 AKR1C4
19 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.46 CYP21A2 CYP19A1 CYP17A1 CYP11B1
20 oxidoreductase activity GO:0016491 9.44 POR HSD3B2 HSD17B6 HSD17B1 CYP21A2 CYP19A1

Sources for Cytochrome P450 Oxidoreductase Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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