MCID: CYT014
MIFTS: 25

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 23 24
Antley-Bixler Syndrome with Disordered Steroidogenesis 24 69
Por Deficiency 23 24
Pord 23 24
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 24
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 24
Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase 24
Antley-Bixler Syndrome, Autosomal Dominant 69
Cytochrome P450 Oxidoreductase 13
Antley-Bixler Syndrome 24

Classifications:



Summaries for Cytochrome P450 Oxidoreductase Deficiency

Genetics Home Reference : 24 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 antley-bixler syndrome with disordered steroidogenesis, is related to antley-bixler syndrome and disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency. 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.

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 all 31)
# Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome 29.5 CYP17A1 CYP21A2 POR
2 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 12.8
3 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 11.7
4 aromatase deficiency 11.7
5 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.1
6 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0
7 amenorrhea 10.0
8 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.0 CYP21A2 POMC
9 acute adrenal insufficiency 9.9 CYP21A2 POMC
10 transsexualism 9.9 CYP17A1 CYP21A2
11 adrenal cortical hypofunction 9.9 CYP21A2 POMC
12 adrenal rest tumor 9.9 CYP21A2 POMC
13 leydig cell tumor 9.9 CYP17A1 CYP21A2
14 pituitary-dependent cushing's disease 9.8 CYP21A2 POMC
15 hypoadrenocorticism, familial 9.8 CYP21A2 POMC
16 adrenal gland hyperfunction 9.8 CYP21A2 POMC
17 hypoadrenalism 9.8 CYP1A2 POMC
18 adrenocortical carcinoma, hereditary 9.7 CYP17A1 CYP21A2
19 female reproductive system disease 9.7 CYP17A1 POMC
20 testicular leydig cell tumor 9.6 CYP17A1 CYP21A2 POMC
21 steroid inherited metabolic disorder 9.6 CYP17A1 CYP21A2 POMC
22 sex differentiation disease 9.6 CYP17A1 CYP21A2 POMC
23 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.6 CYP17A1 CYP21A2 POMC
24 adrenal cortical adenoma 9.6 CYP17A1 CYP21A2 POMC
25 adrenal adenoma 9.6 CYP17A1 CYP21A2 POMC
26 hyperandrogenism 9.6 CYP17A1 CYP21A2 POMC
27 adrenal carcinoma 9.6 CYP17A1 CYP21A2 POMC
28 conn's syndrome 9.6 CYP17A1 CYP21A2 POMC
29 polycystic ovary syndrome 9.5 CYP17A1 CYP21A2
30 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.4 CYP17A1 CYP1A2 CYP21A2
31 lipoid congenital adrenal hyperplasia 9.3 CYP17A1 CYP21A2 POMC POR

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

Anatomical Context for Cytochrome P450 Oxidoreductase Deficiency

Publications for Cytochrome P450 Oxidoreductase Deficiency

Articles related to Cytochrome P450 Oxidoreductase Deficiency:

(show all 12)
# Title Authors Year
1
Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea. ( 28459039 )
2017
2
In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report. ( 29069987 )
2017
3
Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects. ( 25294558 )
2014
4
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 11I^-hydroxyandrosterone. ( 22273564 )
2012
5
Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency. ( 21808038 )
2011
6
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. ( 19884324 )
2010
7
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. ( 20409737 )
2010
8
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. ( 19258400 )
2009
9
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
10
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
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 ( 20301592 )
1993

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
13.46 CYP17A1 CYP1A2 CYP21A2 POMC POR
2
Show member pathways
12.22 CYP17A1 CYP21A2 POMC
3
Show member pathways
12.03 CYP17A1 CYP1A2 CYP21A2 POMC POR
4
Show member pathways
11.7 CYP1A2 POR
5 11.37 CYP21A2 POMC
6
Show member pathways
11.28 CYP17A1 CYP21A2 POMC
7
Show member pathways
11.05 CYP17A1 CYP1A2
8
Show member pathways
10.94 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 9.26 CYP17A1 CYP21A2
6 steroid metabolic process GO:0008202 9.13 CYP17A1 CYP1A2 CYP21A2
7 glucocorticoid biosynthetic process GO:0006704 8.62 CYP17A1 CYP21A2

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 9.46 CYP17A1 CYP1A2 CYP21A2 POR
2 iron ion binding GO:0005506 9.43 CYP17A1 CYP1A2 CYP21A2
3 electron transfer activity GO:0009055 9.37 CYP1A2 POR
4 oxygen binding GO:0019825 9.32 CYP17A1 CYP1A2
5 heme binding GO:0020037 9.13 CYP17A1 CYP1A2 CYP21A2
6 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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