MCID: CYT014
MIFTS: 30

Cytochrome P450 Oxidoreductase Deficiency

Categories: Endocrine diseases

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:



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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

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:



Diseases related to Cytochrome P450 Oxidoreductase Deficiency

Symptoms & Phenotypes for Cytochrome P450 Oxidoreductase Deficiency

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

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

Anatomical Context for Cytochrome P450 Oxidoreductase Deficiency

MalaCards organs/tissues related to Cytochrome P450 Oxidoreductase Deficiency:

42
Breast, Ovary, Pituitary, Neutrophil

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 )
2018
2
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review. ( 28288674 )
2017
3
Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea. ( 28459039 )
2017
4
Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects. ( 25294558 )
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 )
2012
6
Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency. ( 21808038 )
2011
7
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. ( 20409737 )
2010
8
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. ( 19884324 )
2010
9
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. ( 19258400 )
2009
10
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
11
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. ( 16608896 )
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 )
2006

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

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
1
Show member pathways
13.45 CYP17A1 CYP1A2 CYP21A2 POMC POR
2
Show member pathways
12.41 CYP17A1 CYP21A2 POMC
3
Show member pathways
12.02 CYP17A1 CYP1A2 CYP21A2 POMC POR
4 11.4 CYP21A2 POMC
5
Show member pathways
11.39 CYP1A2 POR
6
Show member pathways
11.28 CYP17A1 CYP21A2 POMC
7
Show member pathways
11.05 CYP17A1 CYP1A2
8
Show member pathways
10.95 CYP17A1 CYP1A2 CYP21A2
9
Show member pathways
10.6 CYP17A1 CYP21A2

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

Sources for Cytochrome P450 Oxidoreductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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