Cytochrome P450 Oxidoreductase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases
Anatomical: Bone diseases Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080925

NCIt ⁴⁹ 131302

UMLS ⁷¹ C1860042 C2936791

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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

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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:

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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

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Drugs & Therapeutics for Cytochrome P450 Oxidoreductase Deficiency

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

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Genetic Tests for Cytochrome P450 Oxidoreductase Deficiency

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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

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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	Hershkovitz E...Miller WL	18559916	2008
2	Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. ⁶² ²⁴ ⁵	Huang N...Miller WL	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	Fukami M...Ogata T	15483095	2005
4	Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. ⁶² ²⁴ ⁵	Fluck CE...Miller WL	14758361	2004
5	Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. ⁶² ²⁴ ⁵	Kelley RI...Jabs EW	12116245	2002
6	Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. ²⁴ ⁵	Arlt W...Shackleton CH	15220035	2004
7	POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. ⁶² ⁵	Adachi M...Arlt W	16470797	2006
8	Antley-Bixler syndrome with radioulnar synostosis. ⁶² ⁵	Hurley ME...Kelleher J	14513299	2004
9	NGS targeted screening of 100 Scandinavian patients with coronal synostosis. ⁵	Topa A...Kolby L	31837199	2020
10	P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms. ⁶² ²⁴	Burkhard FZ...Pandey AV	27068427	2017
11	Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency. ⁶² ²⁴	Bonamichi BD...Gomes LG	27737328	2016
12	Pharmacogenomics of human P450 oxidoreductase. ⁶² ²⁴	Pandey AV...Sproll P	24847272	2014
13	Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency. ⁶² ²⁴	Reisch N...Arlt W	23365120	2013
14	Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. ⁶² ²⁴	Krone N...Arlt W	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	Soneda S...Ogata T	21900384	2011
16	Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. ⁶² ²⁴	Tomalik-Scharte D...Arlt W	20844025	2010
17	Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism. ⁶² ²⁴	Fluck CE...Pandey AV	20849814	2010
18	Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. ⁶² ²⁴	Sahakitrungruang T...Miller WL	19837910	2009
19	Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. ⁶² ²⁴	Fukami M...Ogata T	19258400	2009
20	Genetic variation in human P450 oxidoreductase. ⁶² ²⁴	Miller WL...Giacomini KM	18930113	2009
21	Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. ⁶² ²⁴	Kranendonk M...Rueff J	18455494	2008
22	Genetic and clinical features of p450 oxidoreductase deficiency. ⁶² ²⁴	Scott RR...Miller WL	18259105	2008
23	Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. ⁶² ²⁴	Pandey AV...Fluck CE	17595315	2007
24	Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P. ⁶² ²⁴	Dhir V...Arlt W	17505056	2007
25	Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. ⁶² ²⁴	Scott RR...Miller WL	17389698	2007
26	Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. ⁶² ²⁴	Williamson L...Braddock SR	16906539	2006
27	Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. ⁶² ²⁴	Chevy F...Wolf C	16231320	2005
28	Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. ⁶² ²⁴	Cragun DL...Hopkin RJ	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	Shackleton C...Hauffa BP	15316970	2004
30	Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. ⁶² ²⁴	Adachi M...Oka A	15264278	2004
31	Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome. ⁶² ²⁴	Shackleton C...Malunowicz E	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	Biason-Lauber A...Zachmann M	9360545	1997
33	Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia. ²⁴	Weaver KN...Hopkin RJ	25102973	2014
34	Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. ²⁴	Wang DC...Glanc P	24585534	2014
35	Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. ²⁴	Laue K...Robertson SP	22019272	2011
36	Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. ²⁴	Idkowiak J...Arlt W	21190981	2011
37	Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase. ²⁴	Agrawal V...Miller WL	20697309	2010
38	Restoration of mutant cytochrome P450 reductase activity by external flavin. ²⁴	Nicolo C...Pandey AV	20188793	2010
39	The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test. ²⁴	Oneda B...Eap CB	19801957	2009
40	Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. ²⁴	Dhir V...Krone N	19454579	2009
41	Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. ²⁴	Gomes LG...Miller WL	18957504	2009
42	Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. ²⁴	Agrawal V...Miller WL	18551037	2008
43	P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity. ²⁴	Hart SN...Zhong XB	18433346	2008
44	Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. ²⁴	Huang N...Miller WL	18230729	2008
45	Benchmarking sets for molecular docking. ²⁴	Huang N...Irwin JJ	17154509	2006
46	Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype. ²⁴	Lopez-Rangel E...Van Allen MI	16265639	2005
47	Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis. ²⁴	Otto DM...Wolf CR	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	Gu J...Ding X	12697746	2003
49	Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase. ²⁴	Shen AL...Kasper CB	11742006	2002
50	Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient. ²⁴	Aleck KA...Bartley DL	9332650	1997

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Genes for Cytochrome P450 Oxidoreductase Deficiency

Genes related to Cytochrome P450 Oxidoreductase Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POR	Cytochrome P450 Oxidoreductase	Protein Coding	450.23	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	9360545 14513299 14758361 (more) 15220035 15483095 15793702 16470797 18559916 31837199
2	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	6.8	DISEASES inferred ¹⁴
3	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	6.65	DISEASES inferred ¹⁴
4	HSD3B2	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2	Protein Coding	5.98	DISEASES inferred ¹⁴
5	HSD17B6	Hydroxysteroid 17-Beta Dehydrogenase 6	Protein Coding	5.79	DISEASES inferred ¹⁴
6	AKR7A3	Aldo-Keto Reductase Family 7 Member A3	Protein Coding	5.6	DISEASES inferred ¹⁴
7	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	5.53	DISEASES inferred ¹⁴
8	CYP11B1	Cytochrome P450 Family 11 Subfamily B Member 1	Protein Coding	5.42	DISEASES inferred ¹⁴
9	AKR1C4	Aldo-Keto Reductase Family 1 Member C4	Protein Coding	5.38	DISEASES inferred ¹⁴
10	HSD17B1	Hydroxysteroid 17-Beta Dehydrogenase 1	Protein Coding	5.33	DISEASES inferred ¹⁴

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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

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Expression for Cytochrome P450 Oxidoreductase Deficiency

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

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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	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.51	AKR1C4 AKR7A3 CYP11B1 CYP17A1 CYP19A1 CYP21A2
2	Metapathway biotransformation Phase I and II ⁷⁴ Show member pathways Acetaminophen metabolism ²² Aflatoxin B1 metabolism ⁷⁴ Artemisinin and Derivatives Pathway, Pharmacokinetics ⁶⁰ Arylamine metabolism ⁷⁴ Benzo(a)pyrene metabolism ⁷⁴ Benzo[a]pyrene metabolism ²² Benzodiazepine Pathway, Pharmacokinetics ⁶⁰ Biological oxidations ⁶⁶ Cannabidiol Pathway, Pharmacokinetics ⁶⁰ Doxepin Pathway, Pharmacokinetics ⁶⁰ Estradiol metabolism ²² Flurbiprofen Pathway, Pharmacokinetics ⁶⁰ Haloperidol Pathway, Pharmacokinetics ⁶⁰ Methylation ⁶⁶ Naproxen Pathway, Pharmacokinetics ⁶⁰ Phase II - Conjugation of compounds ⁶⁶ Phenprocoumon Pathway, Pharmacokinetics ⁶⁰ Sorafenib Pharmacokinetics ⁶⁰ Tamoxifen Pathway, Pharmacokinetics ⁶⁰ Voriconazole Pathway, Pharmacokinetics ⁶⁰	12.75	POR CYP21A2 CYP19A1 CYP17A1 CYP11B1 AKR7A3
3	Diseases of glycosylation ⁶⁶ Show member pathways Defective ALG1 causes CDG-1k ⁶⁶ Defective ALG11 causes CDG-1p ⁶⁶ Defective ALG12 causes CDG-1g ⁶⁶ Defective ALG14 causes ALG14-CMS ⁶⁶ Defective ALG2 causes CDG-1i ⁶⁶ Defective ALG3 causes CDG-1d ⁶⁶ Defective ALG6 causes CDG-1c ⁶⁶ Defective ALG8 causes CDG-1h ⁶⁶ Defective ALG9 causes CDG-1l ⁶⁶ Defective DPAGT1 causes CDG-1j, CMSTA2 ⁶⁶ Defective GNE causes sialuria, NK and IBM2 ⁶⁶ Defective MPDU1 causes CDG-1f ⁶⁶ Defective NEU1 causes sialidosis ⁶⁶ Defective RFT1 causes CDG-1n ⁶⁶ Diseases associated with glycosylation precursor biosynthesis ⁶⁶ Diseases associated with N-glycosylation of proteins ⁶⁶ Diseases of metabolism ⁶⁶ MPS IV - Morquio syndrome B ⁶⁶	12.49	CYP21A2 CYP19A1 CYP17A1 CYP11B1
4	Oxidation by cytochrome P450 ⁷⁴ Show member pathways Amine Oxidase reactions ⁶⁶ Aryl hydrocarbon receptor signalling ⁶⁶ Atomoxetine Pathway, Pharmacokinetics ⁶⁰ Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB ⁶⁶ Celecoxib Pathway, Pharmacokinetics ⁶⁰ Cyclophosphamide Pathway, Pharmacokinetics ⁶⁰ CYP2E1 reactions ⁶⁶ Cytochrome P450 - arranged by substrate type ⁶⁶ Defective CYP24A1 causes HCAI ⁶⁶ Defective CYP26B1 causes RHFCA ⁶⁶ Defective CYP26C1 causes FFDD4 ⁶⁶ Defective CYP27A1 causes CTX ⁶⁶ Defective CYP27B1 causes VDDR1A ⁶⁶ Defective CYP27B1 causes VDDR1B ⁶⁶ Defective CYP4F22 causes ARCI5 ⁶⁶ Defective MAOA causes BRUNS ⁶⁶ Eicosanoids ⁶⁶ Endogenous sterols ⁶⁶ Ethanol oxidation ⁶⁶ Fatty acid omega-oxidation ⁷⁴ Fatty acids ⁶⁶ Fluvoxamine Pathway, Pharmacokinetics ⁶⁰ Lidocaine Pathway, Pharmacokinetics ⁶⁰ Miscellaneous substrates ⁶⁶ Phase I - Functionalization of compounds ⁶⁶ Prasugrel Pathway, Pharmacokinetics ⁶⁰ Sterols are 12-hydroxylated by CYP8B1 ⁶⁶ Vitamin D2 (ergocalciferol) metabolism ²² Vitamins ⁶⁶ Xenobiotics ⁶⁶	12.47	POR CYP21A2 CYP19A1 CYP17A1 CYP11B1
5	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.29	HSD17B6 HSD17B1 AKR1C4
6	Metabolism of steroids ⁶⁶ Show member pathways Activation of gene expression by SREBF (SREBP) ⁶⁶ allopregnanolone biosynthesis ⁶¹ androgen biosynthesis ⁶¹ Cholesterol synthesis disorders ⁷⁴ Defective CYP17A1 causes AH5 ⁶⁶ Regulation of cholesterol biosynthesis by SREBP (SREBF) ⁶⁶ Sterol regulatory element-binding proteins (SREBP) signaling ⁷⁴ Vitamin D (calciferol) metabolism ⁶⁶	12.26	HSD3B2 HSD17B1 CYP21A2 CYP19A1 CYP17A1 CYP11B1
7	Glucose / Energy Metabolism ³	12.23	HSD17B6 CYP19A1 CYP17A1
8	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.66	HSD3B2 CYP21A2 CYP11B1
9	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.42	HSD17B6 HSD17B1
10	Metabolism of steroid hormones ⁶⁶ Show member pathways Androgen biosynthesis ⁶⁶ Defective CYP11A1 causes AICSR ⁶⁶ Defective CYP11B1 causes AH4 ⁶⁶ Defective CYP21A2 causes AH3 ⁶⁶ Electron transport from NADPH to Ferredoxin ⁶⁶ Estrogen biosynthesis ⁶⁶ Glucocorticoid and Mineralcorticoid Metabolism ⁷⁴ Glucocorticoid biosynthesis ⁶⁶ Mineralocorticoid biosynthesis ⁶⁶ Pregnenolone biosynthesis ⁶⁶	11.42	HSD3B2 HSD17B1 CYP21A2 CYP19A1 CYP17A1 CYP11B1
11	Androstenedione and testosterone biosynthesis and metabolism p.1 ²² Show member pathways Estrogen biosynthesis ²² Estrone metabolism ²² Steroid biosynthesis ⁷⁴	11.39	HSD3B2 HSD17B1 CYP19A1 CYP17A1 CYP11B1
12	Metabolic disorders of biological oxidation enzymes ⁶⁶	11.15	CYP21A2 CYP19A1 CYP17A1 CYP11B1
13	Estrogen metabolism ⁷⁴ Show member pathways Estrogen Metabolism Pathway ⁶⁰	11.08	HSD17B1 CYP19A1
14	Bupropion Pathway, Pharmacokinetics ⁶⁰ Show member pathways Oxcarbazepine Pathway, Pharmacokinetics ⁶⁰	10.96	AKR7A3 AKR1C4
15	Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism ⁷⁴ Show member pathways Defective CYP11B2 causes CMO-1 deficiency ⁶⁶ progesterone biosynthesis ⁶¹	10.41	POR HSD3B2
16	estradiol biosynthesis I ⁶¹ Show member pathways estradiol biosynthesis I (via estrone) ⁶¹	10.34	HSD17B1 CYP19A1
17	Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics ⁶⁰	10.18	HSD17B1 CYP19A1
18	Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics ⁶⁰	10.06	HSD17B1 CYP19A1
19	Alternative pathway of fetal androgen synthesis ⁷⁴	10.06	POR HSD3B2 HSD17B6 CYP17A1 AKR1C4

Sources

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

Sources for Cytochrome P450 Oxidoreductase Deficiency

¹ BitterDB

² CDC

³ Cell Signaling Technology

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⁸ Cosmic

⁹ dbSNP

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¹¹ Disease Ontology

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

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²⁶ GEO DataSets

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³⁰ HPO

³¹ ICD10

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

PORD MCID: CYT014 MIFTS: 41	Cytochrome P450 Oxidoreductase Deficiency (PORD) Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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Cytochrome P450 Oxidoreductase Deficiency (PORD)

Aliases & Classifications for Cytochrome P450 Oxidoreductase Deficiency

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Related Diseases for Cytochrome P450 Oxidoreductase Deficiency

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

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Symptoms & Phenotypes for Cytochrome P450 Oxidoreductase Deficiency

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Expression for Cytochrome P450 Oxidoreductase Deficiency

Pathways for Cytochrome P450 Oxidoreductase Deficiency

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

GO Terms for Cytochrome P450 Oxidoreductase Deficiency

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

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

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

Sources for Cytochrome P450 Oxidoreductase Deficiency