MCID: DSR012
MIFTS: 31

Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency

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 Deficiency:

Name: Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 57 75 29 6
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase 57 53 13
Disordered Steroidogenesis Due to Por Deficiency 57 53 75
Adrenal Hyperplasia, Congenital, Due to Cytochrome P450 Oxidoreductase Deficiency 57 53
Por Deficiency 53 75
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 75
Congenital Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency 53
Adrenal Hyperplasia Congenital Due to Cytochrome P450 Oxidoreductase Deficiency 75
Steroidogenesis, Disordered, Due to Cytochrome P450 Oxidoreductase Deficiency 40
Congenital Adrenal Hyperplasia Due to Cytochrome Por Deficiency 53
Antley-Bixler Syndrome with Disordered Steroidogenesis 73
Cytochrome P450 Oxidoreductase Deficiency 75
Dispord 75
Pord 53

Characteristics:

HPO:

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


Classifications:



Summaries for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 95699Disease definitionCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.EpidemiologyIt has an annual incidence of 1/100,000-200,000 live births.Clinical descriptionPrenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears and other features similar to those seen in Antley-Bixler syndrome (see this term).EtiologyThis form of CAH is caused by a mutation in the POR gene located on chromosome 7 q11.2.Genetic counselingThe disease follows an autosomal recessive pattern of inheritance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency, also known as disordered steroidogenesis due to cytochrome p450 oxidoreductase, is related to cytochrome p450 oxidoreductase deficiency and antley-bixler syndrome with genital anomalies and disordered steroidogenesis. An important gene associated with Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency is POR (Cytochrome P450 Oxidoreductase). Affiliated tissues include bone, ovary and adrenal gland, and related phenotypes are low-set ears and clinodactyly

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cytochrome p450 oxidoreductase deficiency 12.8
2 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 11.7
3 aromatase deficiency 11.7
4 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.1
5 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0
6 antley-bixler syndrome 10.0
7 amenorrhea 10.0

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



Diseases related to Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency

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 Deficiency:

32 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 frequent (33%) HP:0000369
2 clinodactyly 32 frequent (33%) HP:0030084
3 hypertension 32 occasional (7.5%) HP:0000822
4 delayed skeletal maturation 32 hallmark (90%) HP:0002750
5 short stature 32 frequent (33%) HP:0004322
6 flexion contracture 32 frequent (33%) HP:0001371
7 delayed puberty 32 hallmark (90%) HP:0000823
8 osteoporosis 32 hallmark (90%) HP:0000939
9 acne 32 occasional (7.5%) HP:0001061
10 cryptorchidism 32 frequent (33%) HP:0000028
11 absence of secondary sex characteristics 32 hallmark (90%) HP:0008187
12 decreased testicular size 32 frequent (33%) HP:0008734
13 decreased serum testosterone level 32 hallmark (90%) HP:0040171
14 arachnodactyly 32 frequent (33%) HP:0001166
15 choanal atresia 32 frequent (33%) HP:0000453
16 abnormality of the menstrual cycle 32 hallmark (90%) HP:0000140
17 midface retrusion 32 frequent (33%) HP:0011800
18 craniosynostosis 32 frequent (33%) HP:0001363
19 male pseudohermaphroditism 32 frequent (33%) HP:0000037
20 ambiguous genitalia 32 HP:0000062
21 bifid scrotum 32 frequent (33%) HP:0000048
22 enlarged polycystic ovaries 32 hallmark (90%) HP:0008675
23 generalized hyperpigmentation 32 frequent (33%) HP:0007440
24 tall stature 32 hallmark (90%) HP:0000098
25 accelerated skeletal maturation 32 hallmark (90%) HP:0005616
26 ambiguous genitalia, male 32 frequent (33%) HP:0000033
27 perineal hypospadias 32 frequent (33%) HP:0000051
28 urogenital sinus anomaly 32 frequent (33%) HP:0100779
29 micropenis 32 frequent (33%) HP:0000054
30 increased serum testosterone level 32 hallmark (90%) HP:0030088
31 choanal stenosis 32 frequent (33%) HP:0000452
32 increased circulating acth level 32 frequent (33%) HP:0003154
33 decreased circulating cortisol level 32 frequent (33%) HP:0008163
34 female external genitalia in individual with 46,xy karyotype 32 hallmark (90%) HP:0008730
35 adrenocorticotropic hormone excess 32 hallmark (90%) HP:0011749
36 abnormal sex determination 32 frequent (33%) HP:0012244
37 decreased serum estradiol 32 hallmark (90%) HP:0008214
38 decreased fertility in females 32 frequent (33%) HP:0000868
39 decreased fertility in males 32 frequent (33%) HP:0012041
40 premature adrenarche 32 hallmark (90%) HP:0012412
41 hirsutism 32 occasional (7.5%) HP:0001007
42 ambiguous genitalia, female 32 hallmark (90%) HP:0000061
43 clitoral hypertrophy 32 hallmark (90%) HP:0008665
44 hypoplasia of the vagina 32 frequent (33%) HP:0008726
45 hyperpigmented genitalia 32 hallmark (90%) HP:0030258
46 abnormality of the labia majora 32 hallmark (90%) HP:0012881
47 maternal virilization in pregnancy 32 hallmark (90%) HP:0008072
48 adrenogenital syndrome 32 hallmark (90%) HP:0000840
49 androgen insufficiency 32 frequent (33%) HP:0008226
50 congenital adrenal hyperplasia 32 hallmark (90%) HP:0008258

Drugs & Therapeutics for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase...

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

Genetic Tests for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase...

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

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

Anatomical Context for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase...

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

41
Bone, Ovary, Adrenal Gland

Publications for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase...

Articles related to Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency:

# Title Authors Year
1
Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency. ( 27376429 )
2016
2
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. ( 26670660 )
2015
3
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. ( 21868813 )
2011
4
[Antley-Bixler syndrome or POR deficiency?]. ( 18630181 )
2008

Variations for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase...

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

75
# 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 Deficiency:

6
(show all 14)
# 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.859G> C (p.Ala287Pro) single nucleotide variant Pathogenic rs121912974 GRCh38 Chromosome 7, 75983548: 75983548
3 POR NM_000941.2(POR): c.1706G> A (p.Cys569Tyr) single nucleotide variant Pathogenic rs28931607 GRCh37 Chromosome 7, 75615277: 75615277
4 POR NM_000941.2(POR): c.1706G> A (p.Cys569Tyr) single nucleotide variant Pathogenic rs28931607 GRCh38 Chromosome 7, 75985959: 75985959
5 POR NM_000941.2(POR): c.1822G> T (p.Val608Phe) single nucleotide variant Pathogenic rs72552772 GRCh37 Chromosome 7, 75615483: 75615483
6 POR NM_000941.2(POR): c.1822G> T (p.Val608Phe) single nucleotide variant Pathogenic rs72552772 GRCh38 Chromosome 7, 75986165: 75986165
7 POR NM_000941.2(POR): c.541T> G (p.Tyr181Asp) single nucleotide variant Pathogenic rs72552771 GRCh37 Chromosome 7, 75610390: 75610390
8 POR NM_000941.2(POR): c.541T> G (p.Tyr181Asp) single nucleotide variant Pathogenic rs72552771 GRCh38 Chromosome 7, 75981072: 75981072
9 POR NM_000941.2(POR): c.1370G> A (p.Arg457His) single nucleotide variant Likely pathogenic rs28931608 GRCh37 Chromosome 7, 75614497: 75614497
10 POR NM_000941.2(POR): c.1370G> A (p.Arg457His) single nucleotide variant Likely pathogenic rs28931608 GRCh38 Chromosome 7, 75985179: 75985179
11 POR NM_000941.2(POR): c.1615G> A (p.Gly539Arg) single nucleotide variant Pathogenic rs121912976 GRCh37 Chromosome 7, 75615113: 75615113
12 POR NM_000941.2(POR): c.1615G> A (p.Gly539Arg) single nucleotide variant Pathogenic rs121912976 GRCh38 Chromosome 7, 75985795: 75985795
13 POR NM_000941.2(POR): c.214T> C (p.Phe72Leu) single nucleotide variant Uncertain significance rs782107314 GRCh37 Chromosome 7, 75601756: 75601756
14 POR NM_000941.2(POR): c.214T> C (p.Phe72Leu) single nucleotide variant Uncertain significance rs782107314 GRCh38 Chromosome 7, 75972438: 75972438

Expression for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase...

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

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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