DISPORD
MCID: DSR005
MIFTS: 28

Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase (DISPORD) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase

Aliases & Descriptions 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 66 29
Disordered Steroidogenesis Due to Por Deficiency 50 66
Por Deficiency 50 66
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 66
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 66
Congenital Adrenal Hyperplasia Due to Cytochrome Por Deficiency 50
Antley-Bixler Syndrome with Disordered Steroidogenesis 69
Cytochrome P450 Oxidoreductase Deficiency 66
Dispord 66
Pord 50

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 613571
MedGen 40 C2673964
MeSH 42 D000312

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... (613571) more...

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 cytochrome p450 oxidoreductase deficiency, and has symptoms including low-set ears, clinodactyly and hypertension. An important gene associated with Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways is Cytochrome P450 - arranged by substrate type. Affiliated tissues include bone, ovary and adrenal gland.

UniProtKB/Swiss-Prot : 66 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

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 low-set ears 32 HP:0000369
2 clinodactyly 32 HP:0030084
3 hypertension 32 HP:0000822
4 delayed skeletal maturation 32 HP:0002750
5 short stature 32 HP:0004322
6 flexion contracture 32 HP:0001371
7 delayed puberty 32 HP:0000823
8 osteoporosis 32 HP:0000939
9 acne 32 HP:0001061
10 cryptorchidism 32 HP:0000028
11 absence of secondary sex characteristics 32 HP:0008187
12 decreased testicular size 32 HP:0008734
13 decreased serum testosterone level 32 HP:0040171
14 arachnodactyly 32 HP:0001166
15 choanal atresia 32 HP:0000453
16 abnormality of the menstrual cycle 32 HP:0000140
17 midface retrusion 32 HP:0011800
18 craniosynostosis 32 HP:0001363
19 male pseudohermaphroditism 32 HP:0000037
20 ambiguous genitalia 32 HP:0000062
21 bifid scrotum 32 HP:0000048
22 enlarged polycystic ovaries 32 HP:0008675
23 generalized hyperpigmentation 32 HP:0007440
24 tall stature 32 HP:0000098
25 accelerated skeletal maturation 32 HP:0005616
26 ambiguous genitalia, male 32 HP:0000033
27 perineal hypospadias 32 HP:0000051
28 urogenital sinus anomaly 32 HP:0100779
29 micropenis 32 HP:0000054
30 choanal stenosis 32 HP:0000452
31 increased circulating acth level 32 HP:0003154
32 decreased circulating cortisol level 32 HP:0008163
33 female external genitalia in individual with 46,xy karyotype 32 HP:0008730
34 adrenocorticotropic hormone excess 32 HP:0011749
35 abnormal sex determination 32 HP:0012244
36 decreased serum estradiol 32 HP:0008214
37 decreased fertility in females 32 HP:0000868
38 decreased fertility in males 32 HP:0012041
39 hirsutism 32 HP:0001007
40 aortic root dilatation 32 HP:0002616
41 ambiguous genitalia, female 32 HP:0000061
42 clitoral hypertrophy 32 HP:0008665
43 hypoplasia of the vagina 32 HP:0008726
44 premature adrenarche 32 HP:0012412
45 hyperpigmented genitalia 32 HP:0030258
46 abnormality of the labia majora 32 HP:0012881
47 maternal virilization in pregnancy 32 HP:0008072
48 adrenogenital syndrome 32 HP:0000840
49 androgen insufficiency 32 HP:0008226
50 congenital adrenal hyperplasia 32 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

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:

66
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 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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