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 24 25
Antley-Bixler Syndrome with Disordered Steroidogenesis 25 73
Por Deficiency 24 25
Pord 24 25
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 25
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis 25
Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase 25
Antley-Bixler Syndrome, Autosomal Dominant 73
Cytochrome P450 Oxidoreductase 13
Antley-Bixler Syndrome 25

Classifications:



Summaries for Cytochrome P450 Oxidoreductase Deficiency

Genetics Home Reference : 25 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 32)
# Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome 29.2 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 9.9 CYP21A2 POMC
9 acute adrenal insufficiency 9.9 CYP21A2 POMC
10 transsexualism 9.9 CYP17A1 CYP21A2
11 adrenal cortical hypofunction 9.8 CYP21A2 POMC
12 adrenal rest tumor 9.8 CYP21A2 POMC
13 leydig cell tumor 9.8 CYP17A1 CYP21A2
14 pituitary-dependent cushing's disease 9.8 CYP21A2 POMC
15 hypoadrenocorticism, familial 9.7 CYP21A2 POMC
16 female reproductive system disease 9.7 CYP17A1 POMC
17 adrenal gland hyperfunction 9.7 CYP21A2 POMC
18 hypoadrenalism 9.6 CYP1A2 POMC
19 polycystic ovary syndrome 9.5 CYP17A1 CYP21A2
20 testicular leydig cell tumor 9.4 CYP17A1 CYP21A2 POMC
21 steroid inherited metabolic disorder 9.4 CYP17A1 CYP21A2 POMC
22 sex differentiation disease 9.4 CYP17A1 CYP21A2 POMC
23 adrenal cortical adenoma 9.4 CYP17A1 CYP21A2 POMC
24 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.4 CYP17A1 CYP21A2 POMC
25 adrenal adenoma 9.4 CYP17A1 CYP21A2 POMC
26 adrenal carcinoma 9.3 CYP17A1 CYP21A2 POMC
27 hyperandrogenism 9.3 CYP17A1 CYP21A2 POMC
28 adrenocortical carcinoma, hereditary 9.3 CYP17A1 CYP21A2 POMC
29 conn's syndrome 9.3 CYP17A1 CYP21A2 POMC
30 adenoma 9.2 CYP21A2 POMC
31 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.0 CYP17A1 CYP1A2 CYP21A2
32 lipoid congenital adrenal hyperplasia 8.9 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
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. ( 20409737 )
2010
7
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. ( 19884324 )
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
13.43 CYP17A1 CYP1A2 CYP21A2 POMC POR
2
Show member pathways
12.47 CYP17A1 CYP21A2 POMC
3
Show member pathways
12.02 CYP17A1 CYP1A2 CYP21A2 POMC POR
4
Show member pathways
11.7 CYP1A2 POR
5 11.34 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
10.58 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 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 iron ion binding GO:0005506 9.43 CYP17A1 CYP1A2 CYP21A2
2 electron transfer activity GO:0009055 9.37 CYP1A2 POR
3 heme binding GO:0020037 9.33 CYP17A1 CYP1A2 CYP21A2
4 oxygen binding GO:0019825 9.32 CYP17A1 CYP1A2
5 oxidoreductase activity GO:0016491 9.26 CYP17A1 CYP1A2 CYP21A2 POR
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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