DISPORD
MCID: DSR012
MIFTS: 39

Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency (DISPORD)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 73 29 6
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase 57 20 36 13
Disordered Steroidogenesis Due to Por Deficiency 57 20 73
Por Deficiency 20 58 73
Adrenal Hyperplasia, Congenital, Due to Cytochrome P450 Oxidoreductase Deficiency 57 20
Congenital Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency 20 58
Congenital Adrenal Hyperplasia Due to Cytochrome Por Deficiency 20 58
Pord 20 58
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 73
Adrenal Hyperplasia Congenital Due to Cytochrome P450 Oxidoreductase Deficiency 73
Steroidogenesis, Disordered, Due to Cytochrome P450 Oxidoreductase Deficiency 39
Antley-Bixler Syndrome with Disordered Steroidogenesis 71
Cytochrome P450 Oxidoreductase Deficiency 73
Dispord 73

Characteristics:

Orphanet epidemiological data:

58
congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

HPO:

31
disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 95699DefinitionCongenital 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 adrenal gland and bone, and related phenotypes are delayed skeletal maturation and delayed puberty

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) (Updated 05-Mar-2021)

KEGG : 36 Cytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder with a broad phenotypic spectrum including skeletal malformations resembling the Antley-Bixler syndrome phenotype and abnormalities in adrenal steroid biosynthesis resulting in congenital adrenal hyperplasia.

UniProtKB/Swiss-Prot : 73 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:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 cytochrome p450 oxidoreductase deficiency 32.3 TMEM120A POR
2 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 11.4
3 aromatase deficiency 11.4
4 antley-bixler syndrome 10.6
5 lipoid congenital adrenal hyperplasia 10.5
6 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.5
7 autosomal recessive disease 10.4
8 amenorrhea 10.4
9 vesicoureteral reflux 1 10.3
10 cryptorchidism, unilateral or bilateral 10.3
11 synostosis 10.3
12 craniosynostosis 10.3
13 ovarian cyst 10.3
14 infertility 10.3
15 penis agenesis 10.3
16 crouzon syndrome 10.1
17 earlobe crease 10.1
18 odontochondrodysplasia 10.1
19 anus, imperforate 10.1
20 sexual disorder 10.1
21 hypospadias 10.1
22 hydrocephalus 10.1
23 polycystic ovary syndrome 10.1
24 hyperandrogenism 10.1
25 disorder of sexual development 10.1
26 gastroenteritis 10.1
27 exophthalmos 10.1
28 penile agenesis 10.1
29 bone disease 9.9
30 familial glucocorticoid deficiency 9.9
31 azoospermia 9.9

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...

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

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
3 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
4 abnormality of the menstrual cycle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000140
5 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
6 enlarged polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0008675
7 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
8 premature adrenarche 58 31 hallmark (90%) Very frequent (99-80%) HP:0012412
9 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
10 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
11 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
12 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
13 increased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030088
14 ambiguous genitalia, female 58 31 hallmark (90%) Very frequent (99-80%) HP:0000061
15 hyperpigmented genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030258
16 congenital adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008258
17 adrenocorticotropic hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0011749
18 adrenogenital syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000840
19 maternal virilization in pregnancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008072
20 clitoral hypertrophy 31 hallmark (90%) HP:0008665
21 abnormal labia majora morphology 31 hallmark (90%) HP:0012881
22 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
23 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
24 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
25 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
26 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
27 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
28 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
29 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
30 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
31 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
32 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
33 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
34 male pseudohermaphroditism 58 31 frequent (33%) Frequent (79-30%) HP:0000037
35 ambiguous genitalia, male 58 31 frequent (33%) Frequent (79-30%) HP:0000033
36 perineal hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000051
37 urogenital sinus anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0100779
38 decreased fertility in males 58 31 frequent (33%) Frequent (79-30%) HP:0012041
39 choanal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0000452
40 clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0030084
41 hypoplasia of the vagina 58 31 frequent (33%) Frequent (79-30%) HP:0008726
42 decreased fertility in females 58 31 frequent (33%) Frequent (79-30%) HP:0000868
43 abnormal sex determination 58 31 frequent (33%) Frequent (79-30%) HP:0012244
44 increased circulating acth level 58 31 frequent (33%) Frequent (79-30%) HP:0003154
45 decreased circulating cortisol level 58 31 frequent (33%) Frequent (79-30%) HP:0008163
46 ectopic adrenal gland 58 31 frequent (33%) Frequent (79-30%) HP:0011742
47 female sexual dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0030014
48 pear-shaped nose 58 31 frequent (33%) Frequent (79-30%) HP:0000447
49 androgen insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008226
50 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822

Clinical features from OMIM®:

613571 (Updated 05-Mar-2021)

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:

40
Adrenal Gland, Bone

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

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

(show top 50) (show all 52)
# Title Authors PMID Year
1
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. 57 6 61
18559916 2008
2
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 6 57 61
15793702 2005
3
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. 6 57
15220035 2004
4
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 57 6
14758361 2004
5
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. 6 57
9360545 1997
6
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. 57
16906539 2006
7
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. 6
16470797 2006
8
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. 6
15483095 2005
9
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. 57
15316970 2004
10
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. 6
12116245 2002
11
Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia. 57
2932643 1985
12
Signal recognition particle is required for co-translational insertion of cytochrome P-450 into microsomal membranes. 57
6587354 1984
13
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review. 61
33123976 2020
14
Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing : Overall analysis of a female with POR deficiency. 61
32725309 2020
15
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension. 61
32994263 2020
16
UHPLC-MS-Based Lipidomic and Metabonomic Investigation of the Metabolic Phenotypes of Wild Type and Hepatic CYP Reductase Null (HRN) Mice. 61
32380354 2020
17
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency. 61
32615689 2020
18
Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase. 61
31128914 2019
19
In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report. 61
29069987 2018
20
Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency. 61
29289577 2018
21
P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation. 61
27603900 2016
22
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. 61
27496950 2016
23
Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency. 61
27376429 2016
24
P450 oxidoreductase deficiency with maternal virilization during pregnancy. 61
29944250 2016
25
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. 61
26670660 2015
26
Electron transfer by human wild-type and A287P mutant P450 oxidoreductase assessed by transient kinetics: functional basis of P450 oxidoreductase deficiency. 61
25728647 2015
27
Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects. 61
25294558 2014
28
NADPH P450 oxidoreductase: structure, function, and pathology of diseases. 61
23353702 2013
29
P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations. 61
23092891 2012
30
Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites. 61
21900384 2011
31
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. 61
21868813 2011
32
Clinical and biochemical consequences of p450 oxidoreductase deficiency. 61
21164260 2011
33
Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 61
20844025 2010
34
Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase. 61
20732302 2010
35
Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche. 61
20410220 2010
36
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. 61
20409737 2010
37
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect. 61
19884324 2010
38
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. 61
19837910 2009
39
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. 61
18853185 2009
40
Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously. 61
19621255 2009
41
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. 61
19258400 2009
42
Genetic variation in human P450 oxidoreductase. 61
18930113 2009
43
Genetic and clinical features of p450 oxidoreductase deficiency. 61
18259105 2008
44
P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. 61
18493134 2008
45
[Antley-Bixler syndrome or POR deficiency?]. 61
18630181 2008
46
P450 oxidoreductase deficiency and Antley-Bixler syndrome. 61
17960482 2007
47
Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. 61
17595315 2007
48
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P. 61
17505056 2007
49
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. 61
17389698 2007
50
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. 61
16439592 2006

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

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

6 (show top 50) (show all 138)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POR NM_000941.3(POR):c.1615G>A (p.Gly539Arg) SNV Pathogenic 16915 rs121912976 7:75615113-75615113 7:75985795-75985795
2 POR NM_000941.3(POR):c.859G>C (p.Ala287Pro) SNV Pathogenic 16902 rs121912974 7:75612866-75612866 7:75983548-75983548
3 POR NM_000941.3(POR):c.1706G>A (p.Cys569Tyr) SNV Pathogenic 16903 rs28931607 7:75615277-75615277 7:75985959-75985959
4 POR NM_000941.3(POR):c.1822G>T (p.Val608Phe) SNV Pathogenic 16904 rs72552772 7:75615483-75615483 7:75986165-75986165
5 POR NM_000941.3(POR):c.541T>G (p.Tyr181Asp) SNV Pathogenic 16906 rs72552771 7:75610390-75610390 7:75981072-75981072
6 POR NM_000941.3(POR):c.1571_1619dup (p.Ala541fs) Duplication Pathogenic 580516 rs1563435458 7:75615068-75615069 7:75985750-75985751
7 POR NM_000941.3(POR):c.1370G>A (p.Arg457His) SNV Pathogenic/Likely pathogenic 16907 rs28931608 7:75614497-75614497 7:75985179-75985179
8 POR NM_000941.3(POR):c.1363del (p.Gln455fs) Deletion Likely pathogenic 632505 rs781805159 7:75614490-75614490 7:75985172-75985172
9 POR NM_000941.3(POR):c.188+2T>C SNV Likely pathogenic 576622 rs936203749 7:75583500-75583500 7:75954182-75954182
10 POR NM_000941.3(POR):c.517-4G>A SNV Conflicting interpretations of pathogenicity 360701 rs41299496 7:75610362-75610362 7:75981044-75981044
11 POR NM_000941.3(POR):c.399C>T (p.Asn133=) SNV Conflicting interpretations of pathogenicity 360699 rs181837747 7:75609689-75609689 7:75980371-75980371
12 POR NM_000941.3(POR):c.1898+3G>A SNV Conflicting interpretations of pathogenicity 360720 rs41301439 7:75615562-75615562 7:75986244-75986244
13 POR NM_000941.3(POR):c.1891G>A (p.Val631Ile) SNV Conflicting interpretations of pathogenicity 284175 rs145782750 7:75615552-75615552 7:75986234-75986234
14 POR NM_000941.3(POR):c.1815+8G>A SNV Conflicting interpretations of pathogenicity 360719 rs72557952 7:75615394-75615394 7:75986076-75986076
15 POR NM_000941.3(POR):c.687C>T (p.Ala229=) SNV Conflicting interpretations of pathogenicity 596382 rs72557906 7:75610880-75610880 7:75981562-75981562
16 POR NM_000941.3(POR):c.984C>T (p.Ala328=) SNV Conflicting interpretations of pathogenicity 618843 rs72557941 7:75613092-75613092 7:75983774-75983774
17 POR NM_000941.3(POR):c.1660C>T (p.Arg554Ter) SNV Conflicting interpretations of pathogenicity 632506 rs782336856 7:75615158-75615158 7:75985840-75985840
18 POR NM_000941.3(POR):c.369C>T (p.Ala123=) SNV Conflicting interpretations of pathogenicity 360698 rs41299490 7:75609659-75609659 7:75980341-75980341
19 POR NM_000941.3(POR):c.1953T>G (p.Ala651=) SNV Conflicting interpretations of pathogenicity 772655 rs370865328 7:75615709-75615709 7:75986391-75986391
20 POR NM_000941.3(POR):c.683C>T (p.Pro228Leu) SNV Conflicting interpretations of pathogenicity 436385 rs17853284 7:75610876-75610876 7:75981558-75981558
21 POR NM_000941.3(POR):c.87G>A (p.Thr29=) SNV Conflicting interpretations of pathogenicity 360691 rs41295381 7:75583397-75583397 7:75954079-75954079
22 POR NM_000941.3(POR):c.*60C>T SNV Uncertain significance 360724 rs72557960 7:75615859-75615859 7:75986541-75986541
23 POR NM_000941.3(POR):c.*291G>A SNV Uncertain significance 360730 rs886062445 7:75616090-75616090 7:75986772-75986772
24 POR NM_000941.3(POR):c.169T>C (p.Phe57Leu) SNV Uncertain significance 360694 rs782711779 7:75583479-75583479 7:75954161-75954161
25 POR NM_000941.3(POR):c.214T>C (p.Phe72Leu) SNV Uncertain significance 469120 rs782107314 7:75601756-75601756 7:75972438-75972438
26 POR NM_000941.3(POR):c.513C>G (p.Phe171Leu) SNV Uncertain significance 572685 rs372715546 7:75609803-75609803 7:75980485-75980485
27 POR NM_000941.3(POR):c.1384G>C (p.Ala462Pro) SNV Uncertain significance 576473 rs72557936 7:75614511-75614511 7:75985193-75985193
28 POR NM_000941.3(POR):c.-5+8C>G SNV Uncertain significance 908539 7:75544505-75544505 7:75915187-75915187
29 POR NM_000941.3(POR):c.-5+9T>C SNV Uncertain significance 908540 7:75544506-75544506 7:75915188-75915188
30 POR NM_000941.3(POR):c.624G>A (p.Leu208=) SNV Uncertain significance 908616 7:75610473-75610473 7:75981155-75981155
31 POR NM_000941.3(POR):c.719G>A (p.Gly240Asp) SNV Uncertain significance 908617 7:75610912-75610912 7:75981594-75981594
32 POR NM_000941.3(POR):c.830C>T (p.Pro277Leu) SNV Uncertain significance 908618 7:75611640-75611640 7:75982322-75982322
33 POR NM_000941.3(POR):c.1265G>T (p.Trp422Leu) SNV Uncertain significance 908685 7:75614392-75614392 7:75985074-75985074
34 POR NM_000941.3(POR):c.1384G>A (p.Ala462Thr) SNV Uncertain significance 908686 7:75614511-75614511 7:75985193-75985193
35 POR NM_000941.3(POR):c.1398+10G>A SNV Uncertain significance 908687 7:75614535-75614535 7:75985217-75985217
36 POR NM_000941.3(POR):c.1398+15T>A SNV Uncertain significance 908688 7:75614540-75614540 7:75985222-75985222
37 POR NM_000941.3(POR):c.1491G>T (p.Leu497=) SNV Uncertain significance 771291 rs370326231 7:75614989-75614989 7:75985671-75985671
38 POR NM_000941.3(POR):c.*33C>T SNV Uncertain significance 908743 7:75615832-75615832 7:75986514-75986514
39 POR NM_000941.3(POR):c.*40T>G SNV Uncertain significance 908744 7:75615839-75615839 7:75986521-75986521
40 POR NM_000941.3(POR):c.*51C>T SNV Uncertain significance 908745 7:75615850-75615850 7:75986532-75986532
41 POR NM_000941.3(POR):c.*63C>T SNV Uncertain significance 908746 7:75615862-75615862 7:75986544-75986544
42 POR NM_000941.3(POR):c.112G>A (p.Val38Met) SNV Uncertain significance 909405 7:75583422-75583422 7:75954104-75954104
43 POR NM_000941.3(POR):c.235A>G (p.Thr79Ala) SNV Uncertain significance 909406 7:75601777-75601777 7:75972459-75972459
44 POR NM_000941.3(POR):c.238-5C>T SNV Uncertain significance 909407 7:75608764-75608764 7:75979446-75979446
45 POR NM_000941.3(POR):c.317A>G (p.His106Arg) SNV Uncertain significance 909408 7:75608848-75608848 7:75979530-75979530
46 POR NM_000941.3(POR):c.898G>A (p.Glu300Lys) SNV Uncertain significance 909475 7:75612905-75612905 7:75983587-75983587
47 POR NM_000941.3(POR):c.947G>C (p.Arg316Thr) SNV Uncertain significance 909476 7:75612954-75612954 7:75983636-75983636
48 POR NM_000941.3(POR):c.947+10G>A SNV Uncertain significance 909477 7:75612964-75612964 7:75983646-75983646
49 POR NM_000941.3(POR):c.1519G>A (p.Gly507Ser) SNV Uncertain significance 909541 7:75615017-75615017 7:75985699-75985699
50 POR NM_000941.3(POR):c.1587G>A (p.Thr529=) SNV Uncertain significance 909542 7:75615085-75615085 7:75985767-75985767

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

73
# 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 rs72552772
5 POR p.Val605Phe VAR_021160

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....