MCID: DSR005
MIFTS: 29

Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

MalaCards integrated aliases for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase:

Name: Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase 54 50 13
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 71 29
Disordered Steroidogenesis Due to Por Deficiency 50 71
Por Deficiency 50 71
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 71
Adrenal Hyperplasia, Congenital, Due to Cytochrome P450 Oxidoreductase Deficiency 50
Congenital Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency 50
Adrenal Hyperplasia Congenital Due to Cytochrome P450 Oxidoreductase Deficiency 71
Congenital Adrenal Hyperplasia Due to Cytochrome Por Deficiency 50
Antley-Bixler Syndrome with Disordered Steroidogenesis 69
Cytochrome P450 Oxidoreductase Deficiency 71
Dispord 71
Pord 50

Characteristics:

HPO:

32
disordered steroidogenesis due to cytochrome p450 oxidoreductase:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

OMIM : 54
This rare variant of congenital adrenal hyperplasia, caused by mutations in the POR gene, results in apparent combined deficiency of P450C17 (609300) and P450C21 (613815) and accumulation of steroid metabolites. The most striking phenotypic feature is that affected girls are born with ambiguous genitalia, indicating intrauterine androgen excess. After birth, however, virilization does not progress and amounts of circulating androgens are low or normal. Affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, sometimes suggesting the pattern seen in patients with Antley-Bixler syndrome (see 207410) (summary by Arlt et al., 2004). (613571)

MalaCards based summary : Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase, also known as disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, is related to congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency and aromatase deficiency, and has symptoms including short stature, hirsutism and acne. An important gene associated with Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase is POR (Cytochrome P450 Oxidoreductase). Affiliated tissues include bone, ovary and adrenal gland.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on congenital adrenal hyperplasia.

UniProtKB/Swiss-Prot : 71 Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome.

Related Diseases for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Diseases related to Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency 12.6
2 aromatase deficiency 11.4
3 cytochrome p450 oxidoreductase deficiency 11.1
4 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.9
5 antley-bixler syndrome 10.1
6 congenital adrenal hyperplasia 9.8

Graphical network of the top 20 diseases related to Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase:



Diseases related to Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Symptoms & Phenotypes for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Clinical features from OMIM:

613571

Human phenotypes related to Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase:

32 (show top 50) (show all 54)
id Description HPO Frequency HPO Source Accession
1 short stature 32 frequent (33%) HP:0004322
2 hirsutism 32 occasional (7.5%) HP:0001007
3 acne 32 occasional (7.5%) HP:0001061
4 low-set ears 32 frequent (33%) HP:0000369
5 ambiguous genitalia 32 HP:0000062
6 micropenis 32 frequent (33%) HP:0000054
7 choanal atresia 32 frequent (33%) HP:0000453
8 osteoporosis 32 hallmark (90%) HP:0000939
9 cryptorchidism 32 frequent (33%) HP:0000028
10 clinodactyly 32 frequent (33%) HP:0030084
11 delayed puberty 32 hallmark (90%) HP:0000823
12 bifid scrotum 32 frequent (33%) HP:0000048
13 hypertension 32 occasional (7.5%) HP:0000822
14 midface retrusion 32 frequent (33%) HP:0011800
15 aortic root dilatation 32 occasional (7.5%) HP:0002616
16 tall stature 32 hallmark (90%) HP:0000098
17 arachnodactyly 32 frequent (33%) HP:0001166
18 craniosynostosis 32 frequent (33%) HP:0001363
19 perineal hypospadias 32 frequent (33%) HP:0000051
20 delayed skeletal maturation 32 hallmark (90%) HP:0002750
21 clitoral hypertrophy 32 hallmark (90%) HP:0008665
22 adrenogenital syndrome 32 hallmark (90%) HP:0000840
23 choanal stenosis 32 frequent (33%) HP:0000452
24 congenital adrenal hyperplasia 32 hallmark (90%) HP:0008258
25 pear-shaped nose 32 frequent (33%) HP:0000447
26 decreased testicular size 32 frequent (33%) HP:0008734
27 male pseudohermaphroditism 32 frequent (33%) HP:0000037
28 decreased fertility in females 32 frequent (33%) HP:0000868
29 decreased serum estradiol 32 hallmark (90%) HP:0008214
30 enlarged polycystic ovaries 32 hallmark (90%) HP:0008675
31 premature adrenarche 32 hallmark (90%) HP:0012412
32 flexion contracture 32 frequent (33%) HP:0001371
33 absence of secondary sex characteristics 32 hallmark (90%) HP:0008187
34 decreased serum testosterone level 32 hallmark (90%) HP:0040171
35 abnormality of the menstrual cycle 32 hallmark (90%) HP:0000140
36 generalized hyperpigmentation 32 frequent (33%) HP:0007440
37 accelerated skeletal maturation 32 hallmark (90%) HP:0005616
38 ambiguous genitalia, male 32 frequent (33%) HP:0000033
39 urogenital sinus anomaly 32 frequent (33%) HP:0100779
40 increased circulating acth level 32 frequent (33%) HP:0003154
41 decreased circulating cortisol level 32 frequent (33%) HP:0008163
42 female external genitalia in individual with 46,xy karyotype 32 hallmark (90%) HP:0008730
43 adrenocorticotropic hormone excess 32 hallmark (90%) HP:0011749
44 abnormal sex determination 32 frequent (33%) HP:0012244
45 decreased fertility in males 32 frequent (33%) HP:0012041
46 ambiguous genitalia, female 32 hallmark (90%) HP:0000061
47 hypoplasia of the vagina 32 frequent (33%) HP:0008726
48 hyperpigmented genitalia 32 hallmark (90%) HP:0030258
49 abnormality of the labia majora 32 hallmark (90%) HP:0012881
50 maternal virilization in pregnancy 32 hallmark (90%) HP:0008072

Drugs & Therapeutics for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Search Clinical Trials , NIH Clinical Center for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Genetic Tests for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Genetic tests related to Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase:

id Genetic test Affiliating Genes
1 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 29

Anatomical Context for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

MalaCards organs/tissues related to Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase:

39
Bone, Ovary, Adrenal Gland

Publications for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Variations for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

UniProtKB/Swiss-Prot genetic disease variations for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase:

71
id Symbol AA change Variation ID SNP ID
1 POR p.Tyr178Asp VAR_021154
2 POR p.Ala284Pro VAR_021155
3 POR p.Arg454His VAR_021156
4 POR p.Cys566Tyr VAR_021158
5 POR p.Val605Phe VAR_021160

ClinVar genetic disease variations for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POR NM_000941.2(POR): c.859G> C (p.Ala287Pro) single nucleotide variant Pathogenic rs121912974 GRCh37 Chromosome 7, 75612866: 75612866
2 POR NM_000941.2(POR): c.1706G> A (p.Cys569Tyr) single nucleotide variant Pathogenic rs28931607 GRCh37 Chromosome 7, 75615277: 75615277
3 POR NM_000941.2(POR): c.1822G> T (p.Val608Phe) single nucleotide variant Pathogenic rs72552772 GRCh37 Chromosome 7, 75615483: 75615483
4 POR NM_000941.2(POR): c.541T> G (p.Tyr181Asp) single nucleotide variant Pathogenic rs72552771 GRCh37 Chromosome 7, 75610390: 75610390
5 POR NM_000941.2(POR): c.1370G> A (p.Arg457His) single nucleotide variant Pathogenic/Likely pathogenic rs28931608 GRCh37 Chromosome 7, 75614497: 75614497
6 POR NM_000941.2(POR): c.1615G> A (p.Gly539Arg) single nucleotide variant Pathogenic rs121912976 GRCh37 Chromosome 7, 75615113: 75615113

Expression for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Search GEO for disease gene expression data for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase.

Pathways for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

GO Terms for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Sources for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

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