MCID: PSD009
MIFTS: 47

Pseudohermaphroditism

Categories: Endocrine diseases, Reproductive diseases

Aliases & Classifications for Pseudohermaphroditism

MalaCards integrated aliases for Pseudohermaphroditism:

Name: Pseudohermaphroditism 12 73 54 6 15 17
Indeterminate Sex and Pseudohermaphroditism 12 32

Classifications:



External Ids:

Disease Ontology 12 DOID:3765
ICD9CM 34 752.7
MeSH 44 D012734
NCIt 50 C124575
SNOMED-CT 67 204895009 268328009
ICD10 32 Q56 Q56.3
UMLS 70 C0021193 C0033804

Summaries for Pseudohermaphroditism

MalaCards based summary : Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to leydig cell hypoplasia and denys-drash syndrome. An important gene associated with Pseudohermaphroditism is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Corticotropin-releasing hormone signaling pathway. Affiliated tissues include testis, ovary and testes, and related phenotypes are Reduced mammosphere formation and endocrine/exocrine gland

Wikipedia : 73 Pseudohermaphroditism is an old clinical term for an organism that is born with primary sex... more...

Related Diseases for Pseudohermaphroditism

Diseases related to Pseudohermaphroditism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 245)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia 32.7 STON1-GTF2A1L LHCGR HSD17B3
2 denys-drash syndrome 32.5 WT1 SRD5A1 NR5A1 NR0B1
3 nivelon-nivelon-mabille syndrome 32.3 WT1 NR5A1 NR0B1
4 persistent mullerian duct syndrome, types i and ii 32.2 AMHR2 AMH
5 androgen insensitivity, partial 32.2 SRD5A1 CYP19A1 AR
6 lipoid congenital adrenal hyperplasia 32.0 STAR SRD5A1 NR5A1 NR0B1 HSD3B2 CYP21A2
7 aromatase excess syndrome 31.8 NR5A1 CYP19A1 CYP17A1 AR
8 46,xx sex reversal 1 31.8 NR5A1 NR0B1 FSHR
9 persistent mullerian duct syndrome 31.6 WT1 SRD5A2 NR5A1 NR0B1 LHCGR HSD17B3
10 androgen insensitivity syndrome 31.5 SRD5A2 SRD5A1 NR5A1 NR0B1 HSD17B3 CYP17A1
11 hermaphroditism 31.1 SRD5A2 NR0B1 AR AMHR2 AMH
12 amenorrhea 31.0 NR5A1 LHCGR FSHR CYP19A1 CYP17A1
13 gynecomastia 31.0 SRD5A2 SRD5A1 HSD17B3 CYP21A2 CYP19A1 AR
14 hypospadias 30.9 WT1 SRD5A2 SRD5A1 NR5A1 LHCGR HSD3B2
15 gonadal dysgenesis 30.8 WT1 NR5A1 NR0B1 FSHR AMHR2 AMH
16 gonadoblastoma 30.8 WT1 NR5A1 NR0B1 AMH
17 inguinal hernia 30.7 WT1 AR AMHR2 AMH
18 penis agenesis 30.7 SRD5A2 SRD5A1 LHCGR CYP17A1 AR
19 mixed gonadal dysgenesis 30.6 SRD5A1 NR5A1 CYP21A2 AMHR2 AMH
20 smith-lemli-opitz syndrome 30.6 STAR CYP19A1 CYP17A1
21 luteoma 30.6 FSHR CYP21A2 CYP19A1
22 turner syndrome 30.5 NR0B1 CYP21A2 AR AMH
23 46,xy partial gonadal dysgenesis 30.5 WT1 NR5A1 NR0B1
24 precocious puberty 30.5 STON1-GTF2A1L LHCGR FSHR CYP21A2 CYP19A1
25 3-beta-hydroxysteroid dehydrogenase deficiency 30.4 HSD3B2 CYP21A2
26 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 30.4 STAR NR0B1 HSD3B2 CYP21A2 CYP17A1
27 adrenal cortical adenoma 30.3 NR5A1 CYP21A2 CYP17A1
28 acne 30.3 SRD5A1 CYP21A2 AR
29 leydig cell hypoplasia type ii 30.3 STON1-GTF2A1L LHCGR
30 hyperandrogenism 30.3 SRD5A1 HSD3B2 CYP21A2 CYP19A1 CYP17A1 AR
31 alopecia 30.2 SRD5A2 SRD5A1 AR
32 freemartinism 30.2 HSD17B3 AMH
33 cytochrome p450 oxidoreductase deficiency 30.2 CYP21A2 CYP17A1
34 transsexualism 30.1 SRD5A2 CYP21A2 CYP19A1 CYP17A1 AR
35 adrenal hypoplasia, congenital 30.1 STAR NR5A1 NR0B1 HSD3B2
36 cloacal exstrophy 30.0 NR5A1 AKR1C4
37 cryptorchidism, unilateral or bilateral 30.0 WT1 STAR SRD5A2 SRD5A1 NR5A1 NR0B1
38 adrenal cortical carcinoma 29.8 STAR NR5A1 NR0B1 CYP21A2 CYP19A1 CYP17A1
39 infertility 29.7 NR5A1 LHCGR FSHR CYP21A2 CYP19A1 AR
40 ovarian disease 29.7 STAR LHCGR FSHR CYP19A1 CYP17A1 AR
41 estrogen excess 29.6 FSHR CYP19A1
42 disorder of sexual development 29.0 WT1 STAR SRD5A2 NR5A1 NR0B1 LHCGR
43 pseudovaginal perineoscrotal hypospadias 11.5
44 17-beta hydroxysteroid dehydrogenase iii deficiency 11.5
45 leydig cell hypoplasia, type i 11.4
46 aromatase deficiency 11.4
47 46,xy sex reversal 8 11.2
48 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.1
49 male pseudohermaphroditism/mental retardation syndrome, verloes type 11.1
50 frasier syndrome 11.0

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to Pseudohermaphroditism

Symptoms & Phenotypes for Pseudohermaphroditism

GenomeRNAi Phenotypes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 AKR1C4 AMHR2 CYP21A2 FSHR HSD3B2 NR0B1

MGI Mouse Phenotypes related to Pseudohermaphroditism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.21 AMH AMHR2 AR CYP19A1 FSHR HSD17B3
2 growth/size/body region MP:0005378 10.13 AMHR2 AR CYP17A1 CYP19A1 CYP21A2 FSHR
3 hematopoietic system MP:0005397 10 AMHR2 AR CYP19A1 CYP21A2 FSHR HSD17B3
4 homeostasis/metabolism MP:0005376 9.97 AMH AMHR2 AR CYP17A1 CYP19A1 FSHR
5 adipose tissue MP:0005375 9.95 AR CYP17A1 CYP19A1 FSHR HSD17B3 LHCGR
6 reproductive system MP:0005389 9.5 AMH AMHR2 AR CYP17A1 CYP19A1 FSHR
7 neoplasm MP:0002006 9.43 AMH AMHR2 AR FSHR NR0B1 WT1

Drugs & Therapeutics for Pseudohermaphroditism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
2 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510

Search NIH Clinical Center for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

Anatomical Context for Pseudohermaphroditism

MalaCards organs/tissues related to Pseudohermaphroditism:

40
Testis, Ovary, Testes, Cortex, Skin, Uterus, Adrenal Cortex

Publications for Pseudohermaphroditism

Articles related to Pseudohermaphroditism:

(show top 50) (show all 1435)
# Title Authors PMID Year
1
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. 61 54
18097518 2008
2
Nephropathy and defective spermatogenesis in mice transgenic for a single isoform of the Wilms' tumour suppressor protein, WT1-KTS, together with one disrupted Wt1 allele. 61 54
16967512 2007
3
Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. 54 61
16772352 2006
4
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis. 61 54
15349765 2004
5
[Aromatase deficiency]. 54 61
14968547 2004
6
Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. 54 61
14671061 2004
7
Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1. 54 61
12970737 2003
8
Normal prenatal but arrested postnatal sexual development of luteinizing hormone receptor knockout (LuRKO) mice. 61 54
11145748 2001
9
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. 54 61
10505700 1999
10
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. 61 54
10670748 1999
11
Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. 54 61
10022588 1999
12
Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene. 54 61
9829218 1998
13
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. 61 54
9529364 1998
14
Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. 61 54
8723114 1996
15
Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females. 61 54
8185809 1994
16
Male pseudohermaphrodite with persistent Mullerian duct: A radiologist's and patient's dilemma alike. 61
33368453 2021
17
Unusual Penile Prolapse with an Infectious Background Caused by the Burkholderia cepacia Complex in a Stallion. 61
33478767 2021
18
Transverse testicular ectopia associated with persistent Mullerian duct syndrome in infertile male: two case reports and literature review. 61
33532339 2021
19
Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing. 61
33363845 2020
20
Persistant Mullerian duct syndrome with intra-abdominal seminoma. 61
33102043 2020
21
[Microsurgical penile reconstruction in case of intersexuality and after penis carcinoma]. 61
32428939 2020
22
Persistent Mullerian duct syndrome: rare presentation in an elderly man. 61
32675118 2020
23
A Case of Adenocarcinoma of Uterus Masculinus in a Pomeranian Dog. 61
32613012 2020
24
Hypofertility in a persistence of mullerian duct syndrome: Case report. 61
33395894 2020
25
Female form of persistent Müllerian duct syndrome: A rare case report and review of literature. 61
33190105 2020
26
Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome. 61
31707902 2019
27
Male pseudohermaphroditism with os clitoris in three dogs. 61
31775186 2019
28
[Leydig cell hyperplasia of testis in children: a clinicopathological study]. 61
31775433 2019
29
Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report. 61
31080737 2019
30
A unique case of aggressive uterine cancer in a 45-year-old man with persistent Müllerian duct syndrome. 61
31070141 2019
31
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population. 61
31636948 2019
32
Two novel heterozygous mutations in the CYP17A1 gene in a Chinese patient with 17α-hydroxylase 17,20-lyase deficiency. 61
30695673 2018
33
Transverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report. 61
30508918 2018
34
Persistent Mullerian duct syndrome: Report of two cases with phenotypical immunohistochemical profiling. 61
30426882 2018
35
Persistent Mullerian Duct Syndrome: A Single-Center Experience. 61
30443115 2018
36
Developmental asynchrony and antagonism of sex determination pathways in a lizard with temperature-induced sex reversal. 61
30291276 2018
37
Persistent Mullerian Duct Syndrome with Testicular Seminoma in Transverse Testicular Ectopia. 61
30568363 2018
38
Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis. 61
29345162 2018
39
Characterization of anti-Müllerian hormone in a case of bovine male pseudohermaphroditism. 61
29427350 2018
40
Transverse testicular ectopia with persistent mullerian duct syndrome. 61
29669771 2018
41
Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers. 61
27515263 2017
42
Persistent Müllerian duct syndrome: A case report and review. 61
29285121 2017
43
A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency. 61
29278670 2017
44
MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report. 61
28764266 2017
45
Coincidence of Persistent Müllerian duct syndrome and testicular tumors in dogs. 61
28576146 2017
46
Persistent Mullerian Duct Syndrome Presenting in an Incarcerated Recurrent Inguinal Hernia with Hydrocele. 61
28331809 2017
47
A New Conceptual Approach for Voice Feminization: 12 Years of Experience. 61
27328327 2017
48
Development of 17β-hydroxysteroid dehydrogenase type 3 as a target in hormone-dependent prostate cancer therapy. 61
28267564 2017
49
A Case with late onset of ambiguous genitalia. 61
28580451 2017
50
Is Rectosigmoid Vaginoplasty Still Useful? 61
28194347 2017

Variations for Pseudohermaphroditism

ClinVar genetic disease variations for Pseudohermaphroditism:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD17B3-AS1 , HSD17B3 NM_000197.2(HSD17B3):c.454-1G>A SNV Pathogenic 492765 rs1554694264 GRCh37: 9:99012069-99012069
GRCh38: 9:96249787-96249787
2 HSD17B3 NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu) SNV Pathogenic 492767 rs372027264 GRCh37: 9:99006669-99006669
GRCh38: 9:96244387-96244387
3 HSD17B3 NM_000197.2(HSD17B3):c.121_122del (p.Lys41fs) Deletion Pathogenic 492760 rs1554705693 GRCh37: 9:99064265-99064266
GRCh38: 9:96301983-96301984
4 HSD17B3 NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) SNV Pathogenic 4877 rs119481077 GRCh37: 9:99017189-99017189
GRCh38: 9:96254907-96254907
5 HSD17B3 NM_000197.2(HSD17B3):c.278-1G>C SNV Pathogenic 492761 rs149607031 GRCh37: 9:99015193-99015193
GRCh38: 9:96252911-96252911
6 HSD17B3 NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) SNV Pathogenic 4875 rs119481076 GRCh37: 9:99006675-99006675
GRCh38: 9:96244393-96244393
7 HSD17B3 NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) SNV Pathogenic 4874 rs119481075 GRCh37: 9:99017188-99017188
GRCh38: 9:96254906-96254906
8 HSD17B3 NM_000197.2(HSD17B3):c.277+4A>T SNV Pathogenic 208587 rs201115371 GRCh37: 9:99017146-99017146
GRCh38: 9:96254864-96254864
9 HSD17B3 NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) SNV Pathogenic 265484 rs144809928 GRCh37: 9:98997830-98997830
GRCh38: 9:96235548-96235548
10 HSD17B3 NM_000197.2(HSD17B3):c.397G>A (p.Gly133Arg) SNV Pathogenic 492763 rs747724352 GRCh37: 9:99013756-99013756
GRCh38: 9:96251474-96251474
11 STON1-GTF2A1L , LHCGR NM_000233.4(LHCGR):c.580T>G (p.Phe194Val) SNV Pathogenic 492758 rs750481017 GRCh37: 2:48941150-48941150
GRCh38: 2:48714011-48714011
12 HSD17B3 NM_000197.2(HSD17B3):c.414_416del (p.Leu139del) Deletion Likely pathogenic 492764 rs1554694678 GRCh37: 9:99013737-99013739
GRCh38: 9:96251455-96251457
13 HSD17B3 NM_000197.2(HSD17B3):c.578C>A (p.Pro193His) SNV Likely pathogenic 492766 rs773720185 GRCh37: 9:99007655-99007655
GRCh38: 9:96245373-96245373
14 HSD17B3 NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser) SNV Likely pathogenic 492762 rs767765046 GRCh37: 9:99015087-99015087
GRCh38: 9:96252805-96252805

Expression for Pseudohermaphroditism

Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for Pseudohermaphroditism

Pathways related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 STAR NR5A1 NR0B1 HSD3B2 CYP21A2 CYP17A1
2 11.67 STAR HSD3B2 CYP21A2
3
Show member pathways
11.66 NR5A1 NR3C1 NR0B1 AR
4
Show member pathways
11.46 STAR SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2
5
Show member pathways
11.4 HSD3B2 HSD17B3 CYP19A1 CYP17A1
6 11.35 NR3C1 NR0B1 AR
7 11.34 STAR LHCGR HSD3B2 FSHR CYP19A1 CYP17A1
8 11.29 NR3C1 CYP19A1 AR
9 11.13 NR5A1 LHCGR FSHR CYP19A1
10
Show member pathways
11.05 SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2 CYP19A1
11
Show member pathways
10.98 SRD5A2 SRD5A1 HSD17B3 CYP21A2 CYP17A1
12 10.62 LHCGR FSHR
13 10.54 AMHR2 AMH

GO Terms for Pseudohermaphroditism

Cellular components related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.8 SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2 CYP19A1
2 endoplasmic reticulum membrane GO:0005789 9.7 SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2 CYP19A1
3 intracellular membrane-bounded organelle GO:0043231 9.56 SRD5A2 SRD5A1 NR0B1 HSD3B2 HSD17B3 CYP21A2
4 organelle membrane GO:0031090 9.02 SRD5A2 SRD5A1 CYP21A2 CYP19A1 CYP17A1

Biological processes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.1 SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2 CYP19A1
2 positive regulation of gene expression GO:0010628 10.07 WT1 STAR NR5A1 AR AMH
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.95 STON1-GTF2A1L NR5A1 NR3C1 NR0B1 AR
4 steroid metabolic process GO:0008202 9.91 SRD5A2 SRD5A1 CYP21A2 CYP17A1 AKR1C4
5 electron transport chain GO:0022900 9.85 SRD5A1 CYP19A1 AKR1C4
6 cellular response to cAMP GO:0071320 9.81 WT1 STAR SRD5A1
7 hormone-mediated signaling pathway GO:0009755 9.81 NR5A1 LHCGR FSHR
8 sex differentiation GO:0007548 9.77 SRD5A2 SRD5A1 CYP17A1 AMHR2 AMH
9 cellular response to dexamethasone stimulus GO:0071549 9.76 STAR SRD5A1 NR3C1
10 adrenal gland development GO:0030325 9.74 WT1 NR5A1 NR0B1
11 androgen metabolic process GO:0008209 9.73 SRD5A2 SRD5A1 AKR1C4
12 female gonad development GO:0008585 9.73 NR5A1 FSHR CYP19A1 AMHR2
13 male genitalia development GO:0030539 9.72 WT1 SRD5A2 SRD5A1 LHCGR HSD17B3
14 progesterone metabolic process GO:0042448 9.71 SRD5A1 CYP17A1 AKR1C4
15 gonad development GO:0008406 9.71 WT1 NR0B1 FSHR AMH
16 response to corticosterone GO:0051412 9.7 STAR HSD3B2
17 urogenital system development GO:0001655 9.7 SRD5A1 AMH
18 glucocorticoid biosynthetic process GO:0006704 9.7 HSD3B2 CYP21A2 CYP17A1
19 regulation of systemic arterial blood pressure GO:0003073 9.69 FSHR AR
20 cellular response to epinephrine stimulus GO:0071872 9.69 STAR SRD5A1
21 cellular response to steroid hormone stimulus GO:0071383 9.69 NR3C1 AR
22 positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 9.68 FSHR AR
23 estrogen biosynthetic process GO:0006703 9.68 STAR CYP19A1
24 hypothalamus development GO:0021854 9.68 SRD5A1 NR0B1
25 Leydig cell differentiation GO:0033327 9.67 NR0B1 AR
26 intracellular steroid hormone receptor signaling pathway GO:0030518 9.67 NR3C1 AR
27 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.66 STAR FSHR
28 regulation of steroid biosynthetic process GO:0050810 9.66 STAR NR5A1
29 male sex determination GO:0030238 9.65 NR5A1 NR0B1
30 positive regulation of male gonad development GO:2000020 9.65 WT1 NR5A1
31 cellular response to testosterone stimulus GO:0071394 9.65 SRD5A1 AR
32 cellular response to gonadotropin stimulus GO:0071371 9.65 WT1 STAR LHCGR
33 androgen biosynthetic process GO:0006702 9.65 SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP17A1
34 response to fungicide GO:0060992 9.64 STAR SRD5A1
35 ovulation cycle process GO:0022602 9.63 LHCGR FSHR
36 testosterone biosynthetic process GO:0061370 9.63 STAR SRD5A2 HSD17B3
37 androgen catabolic process GO:0006710 9.62 SRD5A1 CYP19A1
38 diterpenoid metabolic process GO:0016101 9.62 STAR SRD5A1
39 mineralocorticoid biosynthetic process GO:0006705 9.61 HSD3B2 CYP21A2
40 Mullerian duct regression GO:0001880 9.61 AMHR2 AMH
41 negative regulation of female gonad development GO:2000195 9.6 WT1 NR5A1
42 cellular response to luteinizing hormone stimulus GO:0071373 9.59 STAR LHCGR
43 circadian sleep/wake cycle, REM sleep GO:0042747 9.58 STAR SRD5A1
44 steroid biosynthetic process GO:0006694 9.56 STAR SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2
45 sex determination GO:0007530 9.55 WT1 SRD5A1 NR5A1 NR0B1 AMH
46 male gonad development GO:0008584 9.32 WT1 STAR SRD5A2 SRD5A1 NR5A1 NR0B1

Molecular functions related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.72 STAR NR5A1 NR3C1 CYP21A2 AR
2 monooxygenase activity GO:0004497 9.67 CYP21A2 CYP19A1 CYP17A1
3 electron transfer activity GO:0009055 9.65 SRD5A1 CYP19A1 AKR1C4
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.63 CYP21A2 CYP19A1 CYP17A1
5 nuclear receptor activity GO:0004879 9.58 NR5A1 NR3C1 AR
6 estradiol 17-beta-dehydrogenase activity GO:0004303 9.51 HSD17B3 AKR1C4
7 protein-hormone receptor activity GO:0016500 9.43 LHCGR FSHR
8 testosterone dehydrogenase [NAD(P)] activity GO:0030283 9.37 SRD5A2 AKR1C4
9 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.26 SRD5A2 SRD5A1
10 oxidoreductase activity GO:0016491 9.23 SRD5A2 SRD5A1 HSD3B2 HSD17B3 CYP21A2 CYP19A1
11 cholestenone 5-alpha-reductase activity GO:0047751 9.16 SRD5A2 SRD5A1
12 steroid binding GO:0005496 9.13 NR3C1 CYP21A2 AR

Sources for Pseudohermaphroditism

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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