MCID: CYT014
MIFTS: 26

Cytochrome P450 Oxidoreductase Deficiency

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Cytochrome P450 Oxidoreductase Deficiency

MalaCards integrated aliases for Cytochrome P450 Oxidoreductase Deficiency:

Name: Cytochrome P450 Oxidoreductase Deficiency 23 24 25
Por Deficiency 23 24 25
Antley-Bixler Syndrome with Disordered Steroidogenesis 25 69
Pord 23 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 69
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 por deficiency, is related to congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency and disordered steroidogenesis due to cytochrome p450 oxidoreductase. An important gene associated with Cytochrome P450 Oxidoreductase Deficiency is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include lung.

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 35)
id Related Disease Score Top Affiliating Genes
1 congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency 12.6
2 disordered steroidogenesis due to cytochrome p450 oxidoreductase 12.1
3 aromatase deficiency 11.6
4 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 11.2
5 spastic paraplegia 45, autosomal recessive 10.2 CYP17A1 POR
6 pfeiffer syndrome 10.1 POMC POR
7 cleft lip and palate malrotation cardiopathy 10.0 CYP21A2 POMC
8 monosomy 13q34 10.0 CYP21A2 POMC
9 gastrojejunal ulcer 10.0 CYP17A1 CYP21A2
10 dressler's syndrome 10.0 CYP21A2 POMC
11 antley-bixler syndrome 9.9
12 amenorrhea 9.9
13 benign peritoneal mesothelioma 9.9 CYP21A2 POMC
14 liver sarcoma 9.9 CYP17A1 CYP21A2
15 acute myocarditis 9.9 CYP21A2 POMC
16 kunjin encephalitis 9.8 CYP17A1 CYP21A2
17 adrenal cortex disease 9.8 CYP21A2 POMC
18 hypodermyasis 9.8 CYP1A2 POMC
19 basal cell carcinoma 7 9.7 CYP17A1 CYP21A2
20 precursor b lymphoblastic lymphoma/leukemia 9.7 CYP17A1 CYP21A2
21 spondylolysis 9.7 CYP17A1 POMC
22 weill-marchesani syndrome 9.6 CYP17A1 CYP21A2 POR
23 pulmonary blastoma 9.6 CYP17A1 CYP21A2 POMC
24 clear cell acanthoma 9.6 CYP17A1 CYP21A2 POMC
25 sphingolipidosis 9.6 CYP17A1 CYP21A2 POMC
26 mental retardation, autosomal recessive 50 9.5 CYP17A1 CYP21A2 POMC
27 gallbladder adenoma 9.5 CYP17A1 CYP21A2 POMC
28 panuveitis 9.5 CYP17A1 CYP21A2 POMC
29 posterior uveal melanoma 9.5 CYP17A1 CYP21A2 POMC
30 pelvic muscle wasting 9.5 CYP17A1 CYP21A2 POMC
31 renal clear cell carcinoma 9.5 CYP17A1 POMC
32 adrenal cortical adenocarcinoma 9.5 CYP17A1 CYP21A2 POMC
33 hypermobility syndrome 9.5 CYP17A1 CYP21A2 POMC
34 first-degree atrioventricular block 9.1 CYP17A1 CYP21A2 POMC POR
35 dfna2 nonsyndromic hearing loss 8.3 CYP17A1 CYP1A2 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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Correlation Between Lung Cancer Susceptibility, Drug Response and Genetic Polymorphism Unknown status NCT01280448

Search NIH Clinical Center for Cytochrome P450 Oxidoreductase Deficiency

Genetic Tests for Cytochrome P450 Oxidoreductase Deficiency

Genetic tests related to Cytochrome P450 Oxidoreductase Deficiency:

id Genetic test Affiliating Genes
1 Cytochrome P450 Oxidoreductase Deficiency 24 POR

Anatomical Context for Cytochrome P450 Oxidoreductase Deficiency

MalaCards organs/tissues related to Cytochrome P450 Oxidoreductase Deficiency:

39
Lung

Publications for Cytochrome P450 Oxidoreductase Deficiency

Articles related to Cytochrome P450 Oxidoreductase Deficiency:

(show all 11)
id Title Authors Year
1
Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea. ( 28459039 )
2017
2
Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects. ( 25294558 )
2014
3
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
4
Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency. ( 21808038 )
2011
5
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. ( 20409737 )
2010
6
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. ( 19884324 )
2010
7
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. ( 19258400 )
2009
8
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
9
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
10
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. ( 16608896 )
2006
11
Cytochrome P450 Oxidoreductase Deficiency ( 20301592 )
1993

Variations for Cytochrome P450 Oxidoreductase Deficiency

Copy number variations for Cytochrome P450 Oxidoreductase Deficiency from CNVD:

7
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 CYP17A1 CYP1A2 CYP21A2 POMC POR
2
Show member pathways
12.03 CYP17A1 CYP1A2 CYP21A2 POMC POR
3
Show member pathways
11.68 CYP1A2 POR
4 11.34 CYP21A2 POMC
5
Show member pathways
11.28 CYP17A1 CYP21A2 POMC
6
Show member pathways
11.05 CYP17A1 CYP1A2
7
Show member pathways
10.94 CYP17A1 CYP1A2 CYP21A2
8
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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.46 CYP17A1 CYP1A2 CYP21A2 POR
2 xenobiotic metabolic process GO:0006805 9.37 CYP1A2 POR
3 steroid biosynthetic process GO:0006694 9.32 CYP17A1 CYP21A2
4 sterol metabolic process GO:0016125 9.26 CYP17A1 CYP21A2
5 steroid metabolic process GO:0008202 9.13 CYP17A1 CYP1A2 CYP21A2
6 glucocorticoid biosynthetic process GO:0006704 8.62 CYP17A1 CYP21A2

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

id 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 carrier 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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