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 ²⁵ ²⁶

Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency ²⁶ ³⁰

Antley-Bixler Syndrome with Disordered Steroidogenesis ²⁶ ⁷⁴

Por Deficiency ²⁵ ²⁶

Pord ²⁵ ²⁶

Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis ²⁶

Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase ²⁶

Antley-Bixler Syndrome, Autosomal Dominant ⁷⁴

Cytochrome P450 Oxidoreductase ¹³

Antley-Bixler Syndrome ²⁶

Classifications:

MalaCards categories:
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁴ C1860042 C2936791

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Summaries for Cytochrome P450 Oxidoreductase Deficiency

Genetics Home Reference : ²⁶ 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.

MalaCards based summary : Cytochrome P450 Oxidoreductase Deficiency, also known as congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency, is related to lipoid congenital adrenal hyperplasia and antley-bixler syndrome. An important gene associated with Cytochrome P450 Oxidoreductase Deficiency is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Metabolism and Aldosterone synthesis and secretion. Affiliated tissues include breast, ovary and pituitary.

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 53)

#	Related Disease	Score	Top Affiliating Genes
1	lipoid congenital adrenal hyperplasia	30.0	CYP17A1 CYP21A2 POMC POR
2	antley-bixler syndrome	29.8	CYP17A1 CYP21A2 POR
3	disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency	13.0
4	antley-bixler syndrome with genital anomalies and disordered steroidogenesis	11.9
5	aromatase deficiency	11.9
6	bartter syndrome, type 2, antenatal	11.4
7	bartter syndrome, type 1, antenatal	11.4
8	synostosis	10.7
9	pfeiffer syndrome	10.6
10	trigonocephaly 1	10.5
11	luteoma	10.5
12	jackson-weiss syndrome	10.3
13	crouzon syndrome	10.3
14	radioulnar synostosis	10.3
15	tracheoesophageal fistula with or without esophageal atresia	10.3
16	down syndrome	10.3
17	chiari malformation type ii	10.3
18	esophageal atresia	10.3
19	chiari malformation	10.3
20	congenital femoral deficiency	10.3
21	congenital radioulnar synostosis	10.3
22	ramer ladda syndrome	10.3
23	adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	10.3
24	hypoxia	10.2
25	antley-bixler syndrome without genital anomalies or disordered steroidogenesis	10.1
26	amenorrhea	10.1
27	breast cancer	10.1
28	hepatocellular carcinoma	10.1
29	neutrophil actin dysfunction	10.1
30	hepatitis	10.1
31	hepatitis b	10.1
32	leydig cell tumor	10.0	CYP17A1 CYP21A2
33	adenoma	10.0	CYP21A2 POMC
34	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	9.9	CYP21A2 POMC
35	acute adrenal insufficiency	9.9	CYP21A2 POMC
36	transsexualism	9.9	CYP17A1 CYP21A2
37	adrenal cortical hypofunction	9.9	CYP21A2 POMC
38	pituitary-dependent cushing's disease	9.8	CYP21A2 POMC
39	adrenal rest tumor	9.8	CYP21A2 POMC
40	hypoadrenalism	9.8	CYP1A2 POMC
41	hypoadrenocorticism, familial	9.7	CYP21A2 POMC
42	testicular leydig cell tumor	9.7	CYP17A1 CYP21A2 POMC
43	steroid inherited metabolic disorder	9.7	CYP17A1 CYP21A2 POMC
44	adrenal cortical adenoma	9.7	CYP17A1 CYP21A2 POMC
45	adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete	9.7	CYP17A1 CYP21A2 POMC
46	cortisone reductase deficiency	9.7	CYP17A1 CYP21A2 POMC
47	adrenal adenoma	9.7	CYP17A1 CYP21A2 POMC
48	hyperandrogenism	9.6	CYP17A1 CYP21A2 POMC
49	adrenal carcinoma	9.6	CYP17A1 CYP21A2 POMC
50	adrenocortical carcinoma, hereditary	9.6	CYP17A1 CYP21A2 POMC

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

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Symptoms & Phenotypes for Cytochrome P450 Oxidoreductase Deficiency

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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

Genetic tests related to Cytochrome P450 Oxidoreductase Deficiency:

#	Genetic test	Affiliating Genes
1	Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency ³⁰

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Anatomical Context for Cytochrome P450 Oxidoreductase Deficiency

MalaCards organs/tissues related to Cytochrome P450 Oxidoreductase Deficiency:

⁴²

Breast, Ovary, Pituitary, Neutrophil

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Publications for Cytochrome P450 Oxidoreductase Deficiency

Articles related to Cytochrome P450 Oxidoreductase Deficiency:

(show all 12)

#	Title	Authors	Year
1	In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report. ( 29069987 )	Song T...Sun H	2018
2	Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review. ( 28288674 )	Bai Y...Wang X	2017
3	Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea. ( 28459039 )	Khadilkar KS...Shah NS	2017
4	Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects. ( 25294558 )	Fukami M...Ogata T	2014
5	Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11β-hydroxyandrosterone. ( 22273564 )	Koyama Y...Murata M	2012
6	Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency. ( 21808038 )	Xia C...Kim JJ	2011
7	Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. ( 20409737 )	Fukami M...Ogata T	2010
8	Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. ( 19884324 )	Marohnic CC...Kranendonk M	2010
9	Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. ( 19258400 )	Fukami M...Ogata T	2009
10	Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )	Iijima S...Ohzeki T	2009
11	Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. ( 16608896 )	Homma K...Ogata T	2006
12	Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. ( 16439592 )	Fukami M...Ogata T	2006

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Genes for Cytochrome P450 Oxidoreductase Deficiency

Genes related to Cytochrome P450 Oxidoreductase Deficiency (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	POR	Cytochrome P450 Oxidoreductase	Protein Coding	39.57	GeneCards inferred via : Disorders Publications Variants (show sections)
2	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	17.8	GeneCards inferred via : Publications (show sections)
3	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	17.8	GeneCards inferred via : Publications (show sections)
4	CYP1A2	Cytochrome P450 Family 1 Subfamily A Member 2	Protein Coding	17.25	GeneCards inferred via : Publications (show sections)
5	POMC	Proopiomelanocortin	Protein Coding	17.25	GeneCards inferred via : Publications (show sections)

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Variations for Cytochrome P450 Oxidoreductase Deficiency

Copy number variations for Cytochrome P450 Oxidoreductase Deficiency from CNVD:

⁷

#	CNVD ID	Chromosom	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:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁷ Show member pathways Metabolic pathways ³⁸ Metabolism of lipids and lipoproteins ⁶⁷	13.45	CYP17A1 CYP1A2 CYP21A2 POMC POR
2	Aldosterone synthesis and secretion ³⁸ Show member pathways Adrenergic signaling in cardiomyocytes ³⁸ Ca2+ activated K+ channels ⁶⁷ Cortisol synthesis and secretion ³⁸ Cushing syndrome ³⁸ Insulin secretion ³⁸ Melanogenesis ³⁸ Thyroid hormone synthesis ³⁸	12.41	CYP17A1 CYP21A2 POMC
3	Cytochrome P450 - arranged by substrate type ⁶⁷ Show member pathways Amine Oxidase reactions ⁶⁷ Aryl hydrocarbon receptor signalling ⁶⁷ Benzo(a)pyrene metabolism ¹ Biological oxidations ⁶⁷ bupropion degradation ¹ CYP2E1 reactions ⁶⁷ Cytosolic sulfonation of small molecules ⁶⁷ Eicosanoids ⁶⁷ Endogenous sterols ⁶⁷ Estradiol metabolism ²³ Ethanol oxidation ⁶⁷ Fatty Acid Omega Oxidation ¹ Fatty acids ⁶⁷ Metapathway biotransformation ¹ Methylation ⁶⁷ Miscellaneous substrates ⁶⁷ Oxidation by Cytochrome P450 ¹ Phase 1 - Functionalization of compounds ⁶⁷ Phase II conjugation ⁶⁷ Sterols are 12-hydroxylated by CYP8B1 ⁶⁷ Transport and synthesis of PAPS ⁶⁷ Vitamin D2 (ergocalciferol) metabolism ²³ vitamin D3 biosynthesis ¹ Vitamins ⁶⁷ Xenobiotics ⁶⁷	12.02	CYP17A1 CYP1A2 CYP21A2 POMC POR
4	Corticotropin-releasing hormone signaling pathway ¹	11.4	CYP21A2 POMC
5	superpathway of tryptophan utilization ¹ Show member pathways melatonin degradation I ¹ NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde ¹ NAD Biosynthesis II (from tryptophan) ¹ NAD de novo biosynthesis ¹ serotonin degradation ¹ superpathway of melatonin degradation ¹ tryptophan degradation via tryptamine ¹	11.39	CYP1A2 POR
6	Metabolism of steroid hormones ⁶⁷ Show member pathways Androgen biosynthesis ⁶⁷ Estrogen biosynthesis ⁶⁷ Glucocorticoid andamp; Mineralcorticoid Metabolism ¹ glucocorticoid biosynthesis ¹ Glucocorticoid biosynthesis ⁶⁷ mineralocorticoid biosynthesis ¹ Mineralocorticoid biosynthesis ⁶⁷ Pregnenolone biosynthesis ⁶⁷	11.28	CYP17A1 CYP21A2 POMC
7	Androstenedione and testosterone biosynthesis and metabolism p.1 ²³ Show member pathways Estrogen biosynthesis ²³ Estrone metabolism ²³ Steroid Biosynthesis ¹	11.05	CYP17A1 CYP1A2
8	Steroid hormone biosynthesis ³⁸ Show member pathways allopregnanolone biosynthesis ¹	10.95	CYP17A1 CYP1A2 CYP21A2
9	superpathway of steroid hormone biosynthesis ¹ Show member pathways androgen biosynthesis ¹ estradiol biosynthesis I ¹ estradiol biosynthesis II ¹	10.6	CYP17A1 CYP21A2

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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	intracellular membrane-bounded organelle	GO:0043231	9.43	CYP1A2 CYP21A2 POR
2	endoplasmic reticulum	GO:0005783	9.26	CYP17A1 CYP1A2 CYP21A2 POR
3	organelle membrane	GO:0031090	9.16	CYP1A2 CYP21A2
4	endoplasmic reticulum membrane	GO:0005789	8.92	CYP17A1 CYP1A2 CYP21A2 POR

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	CYP17A1 CYP1A2 CYP21A2 POR
2	electron transport chain	GO:0022900	9.4	CYP1A2 POR
3	xenobiotic metabolic process	GO:0006805	9.37	CYP1A2 POR
4	steroid biosynthetic process	GO:0006694	9.32	CYP17A1 CYP21A2
5	sterol metabolic process	GO:0016125	8.96	CYP21A2
6	glucocorticoid biosynthetic process	GO:0006704	8.96	CYP17A1 CYP21A2
7	steroid metabolic process	GO:0008202	8.8	CYP17A1 CYP1A2 CYP21A2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	heme binding	GO:0020037	9.43	CYP17A1 CYP1A2 CYP21A2
2	iron ion binding	GO:0005506	9.33	CYP17A1 CYP1A2 CYP21A2
3	electron transfer activity	GO:0009055	9.32	CYP1A2 POR
4	oxidoreductase activity	GO:0016491	9.26	CYP17A1 CYP1A2 CYP21A2 POR
5	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	8.8	CYP17A1 CYP1A2 CYP21A2

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