MCID: PSD009
MIFTS: 57

Pseudohermaphroditism malady

Reproductive diseases category

Summaries for Pseudohermaphroditism

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63Wikipedia, 32MalaCards
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Wikipedia:63 Pseudohermaphroditism, or pseudo-hermaphroditism, is the condition in which an organism is born with... more...

MalaCards: Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to congenital adrenal hyperplasia and gynecomastia. An important gene associated with Pseudohermaphroditism is SRD5A2 (steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)), and among its related pathways are Glycoprotein hormones and estrogen biosynthesis. The compounds estrogen and forskolin have been mentioned in the context of this disorder. Affiliated tissues include testis, ovary and testes, and related mouse phenotypes are endocrine/exocrine gland and homeostasis/metabolism.

Aliases & Classifications for Pseudohermaphroditism

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Reproductive diseases


Aliases & Descriptions:

pseudohermaphroditism 8 10 44
indeterminate sex and pseudohermaphroditism 8
pseudohermaphroditism nos disorder 8
indeterminate sex 8


External Ids:

Disease Ontology8 DOID:3765
ICD9CM27 752.7
ICD1025 Q56, Q56.3

Related Diseases for Pseudohermaphroditism

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17GeneCards, 18GeneDecks
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Diseases related to Pseudohermaphroditism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia30.6SRD5A1, CYP21A2, CYP17A1, CYP19A1, NR0B1, NR3C1
2gynecomastia30.5SRD5A1, CYP17A1, CYP19A1, CGB5, AR, SRD5A2
3gonadal dysgenesis30.4NR0B1, NR5A1, WT1
4denys-drash syndrome30.3WT1, NR5A1, SRD5A1
5hypertension30.2NR3C1, CYP17A1
6cryptorchidism30.2AMH, WT1, ALPP, SRD5A1, CYP19A1, NR5A1
7hermaphroditism30.1AMH
8mixed gonadal dysgenesis30.1CYP21A2, SRD5A1
9hypogonadism30.0CGB5, AR, LHCGR, NR5A1, CYP19A1, NR0B1
10adenoma30.0HSD3BP4, LHCGR, NR5A1, NR0B1, CYP17A1, CYP21A2
11hypospadias30.0CYP21A2, CYP17A1, NR5A1, AR, WT1, HSD3B2
12prostatitis29.7SRD5A1
13adrenocortical carcinoma29.7NR5A1
14ovarian disease29.7CYP19A1
15aromatase excess syndrome29.7CYP19A1
16testicular cancer29.7CGB5, ALPP
17leukemia29.7HSD17B13, WT1, NR3C1, ALPP
18addison's disease29.7HSD3B2, WT1, NR5A1, NR0B1, CYP17A1, CYP21A2
19ovarian cancer29.7LHCGR, AR, CGB5, CYP19A1, CYP17A1, SRD5A2
20adenocarcinoma29.7WT1, AR, SRD5A1, CYP21A2, NR3C1, NR5A1
21leydig cell tumor29.7SRD5A1, CYP21A2, CYP17A1, CYP19A1, NR0B1, NR5A1
225-alpha reductase deficiency10.3
23leydig cell hypoplasia with pseudohermaphroditism10.3
24male pseudohermaphroditism intellectual disability syndrome, verloes type10.3
25gonadoblastoma10.1
2621-hydroxylase deficiency10.1
27persistent mullerian duct syndrome10.1
28glomerulonephritis10.1
29vaginitis10.1
30male pseudohermaphroditism due to defective lh molecule10.1
3117-beta hydroxysteroid dehydrogenase 3 deficiency10.1
32disorder of sex development - intellectual deficit10.1
33renal wilms' tumor10.0
34congenital adrenal insufficiency10.0
35cleft palate10.0
36turner syndrome10.0
37aromatase deficiency10.0
3846xy sex reversal 310.0
3946xy partial gonadal dysgenesis, with minifascicular neuropathy10.0
40male pseudohermaphroditism due to defective lh10.0
41leydig cell hypoplasia due to lhb deficiency10.0
42amenorrhea10.0AMH
43sertoli-leydig cell tumor10.0WT1
44premature ovarian failure10.0AMH
45down syndrome10.0CGB5
46alopecia10.0AR
47hepatitis10.0ALPP
48essential hypertension10.0NR3C1
49prostatic hypertrophy10.0AR
50acute adrenal insufficiency10.0CYP21A2

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to pseudohermaphroditism

Clinical Features for Pseudohermaphroditism

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Drugs & Therapeutics for Pseudohermaphroditism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Pseudohermaphroditism

Drug clinical trials:

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Search CenterWatch for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

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Anatomical Context for Pseudohermaphroditism

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32MalaCards
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MalaCards organs/tissues related to Pseudohermaphroditism:

32
Testis, Ovary, Testes, Skin, Bone, Kidney, Uterus, Pituitary, Adrenal gland, Prostate, Breast, Heart, Bone marrow, Lung, Cortex

Animal Models for Pseudohermaphroditism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pseudohermaphroditism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.2LHB, LHCGR, AMH, WT1, NR3C1, SRD5A1
2MP:00053769.1LHCGR, AMH, WT1, AR, NR5A1, NR3C1
3MP:00053898.5ALPP, LHB, LHCGR, AMH, WT1, AR

Publications for Pseudohermaphroditism

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50PubMed
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Articles related to Pseudohermaphroditism:

(show top 50)    (show all 478)
idTitleAuthorsYear
1
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. (23618379)
2013
2
Male pseudohermaphroditism presented with sudden cardiac arrest. (22477014)
2012
3
Laparoscopy and intersex: report of 5 cases of male pseudohermaphroditism. (18319558)
2008
4
Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. (16835917)
2006
5
Linkage mapping of the locus responsible for male pseudohermaphroditism (mp) on rat chromosome 7. (15297712)
2004
6
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism. (11300937)
2001
7
Gender assignment and reassignment in 46,XY pseudohermaphroditism and related conditions. (10522979)
1999
8
The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. (9467575)
1998
9
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. (9758445)
1998
10
Laparoscopic hysterectomy in a case of male pseudohermaphroditism with persistent MA1llerian duct derivatives. (9070709)
1997
11
Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies. (8897042)
1996
12
Hypoplastic left heart syndrome with male pseudohermaphroditism and bicornuate uterus bicollis. (8524710)
1995
13
Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females. (8185809)
1994
14
Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. (8060486)
1994
15
Male pseudohermaphroditism caused by nonsalt-losing congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency. (8481355)
1993
16
Congenital adrenal hyperplasia with female pseudohermaphroditism in a 26-year-old patient. (1339522)
1992
17
Steroid 17I^-hydroxysteroid dehydrogenase deficiency in man: an inherited form of male pseudohermaphroditism. (22217844)
1992
18
Phenotypically normal girl with male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia. (1632431)
1992
19
Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. (1944596)
1991
20
Female pseudohermaphroditism in three sibling greyhounds. (2753800)
1989
21
The coexistence of male pseudohermaphrodites with 17-ketosteroid reductase deficiency and 5 alpha-reductase deficiency within a Turkish kindred. (3477349)
1987
22
Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism. (3557461)
1987
23
Linkage of genes for ectopic testes and male pseudohermaphroditism in the rat. (3958481)
1986
24
Female pseudohermaphroditism with anorectal, mA1llerian duct, and urinary tract malformations: report of four cases. (4056975)
1985
25
An unusual case of male pseudohermaphroditism: complete testicular feminization associated with incomplete differentiation of the MA1llerian duct. (6319204)
1984
26
Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor. (6541981)
1984
27
Male pseudohermaphroditism presumably due to 5 alpha reductase deficiency. (6643385)
1983
28
Different aspects of 5 alpha-reductase deficiency in male pseudohermaphroditism and hypothyroidism. (7307277)
1981
29
Gonadoblastoma in dysgenetic testis causing male pseudohermaphroditism in newborn. (7245450)
1981
30
Testicular function in prepubertal male pseudohermaphroditism. (6261996)
1981
31
Male pseudohermaphroditism due to 5 alpha-reductase deficiency. Ultrastructure of the gonads. (6772137)
1980
32
Female pseudohermaphroditism with supplementary phallic urethra. (571339)
1979
33
Male pseudohermaphroditism in a guinea pig (Cavia porcellanus). (260873)
1979
34
Progestin binding in testes from three siblings with the syndrome of male pseudohermaphroditism with testicular feminization. (122397)
1978
35
Endocrine and metabolic studies in a patient with male pseudohermaphroditism and true agonadism. (888864)
1977
36
Proceedings: 17beta-hydroxysteroid oxidoreductase deficiency causing male pseudohermaphroditism in a child. (1206266)
1975
37
Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity. (4278097)
1974
38
Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. (4432067)
1974
39
Male pseudohermaphroditism in a child with Down's syndrome. (4268392)
1973
40
Chromosomal sex and pseudohermaphroditism. (5814049)
1969
41
Virilizing male pseudohermaphroditism. Association with abnormal testicular function. (4238494)
1969
42
A CASE OF PSEUDOHERMAPHRODITISM WITH A NOTE AS TO THE PSYCHIATRIST'S ROLE. (14262255)
1965
43
NONSPECIFIC PSEUDOHERMAPHRODITISM : REPORT OF TWO CASES WITH CYTOGENETIC INVESTIGATIONS. (14189839)
1964
44
Leydig cell tumor of testis in male pseudohermaphrodite with testicular feminization. (14024674)
1963
45
The testicular feminization syndrome, a form of familial male pseudohermaphroditism: a review of the recent literature, and a study of one family by the oral smear technique of nuclear sexing. (13561100)
1958
46
Etiopathogenic concept of the female pseudohermaphroditism and adrenal virilism. (13530377)
1957
47
Pseudohermaphroditism. (13040429)
1953
48
Male pseudohermaphroditism: some endocrinological and psychosexual aspects. (14799506)
1951
49
Female pseudohermaphroditism with hypoadrenia. (15423955)
1950
50
A CASE OF PSEUDOHERMAPHRODITISM. (20318508)
1931

Genetic Variations for Pseudohermaphroditism

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Expression for genes affiliated with Pseudohermaphroditism

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudohermaphroditism

Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for genes affiliated with Pseudohermaphroditism

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
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Pathways related to Pseudohermaphroditism according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.2LHCGR, LHB
210.2CYP19A1, HSD17B3
3
Hide members
10.1CYP21A2, CYP17A1, HSD3B2
410.1CYP21A2, CYP17A1, CYP19A1
5
Hide members
10.1CYP19A1, CYP17A1, CYP21A2
610.1CYP19A1, NR5A1, LHCGR
7
Transcription Androgen Receptor nuclear signaling
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10.0SRD5A2, SRD5A1, AR
810.0AR, NR3C1, NR0B1
9
Transcription Role of VDR in regulation of genes involved in osteoporosis
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10.0CYP19A1, NR3C1, AR
1010.0HSD17B3, HSD3B2, AR, CYP17A1
11
Estrone metabolism
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10.0CYP17A1, CYP19A1, HSD3B2, HSD17B3
12
Development Prolactin receptor signaling
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10.0LHB, LHCGR, NR3C1, CYP17A1
13
Hide members
9.9AR, NR5A1, NR3C1, NR0B1
149.9HSD3B2, LHB, LHCGR, CYP19A1, CYP17A1
15
Hide members
9.8HSD17B3, HSD3B2, CYP17A1, SRD5A1, SRD5A2
16
Hide members
9.8HSD17B3, HSD3B2, CYP19A1, CYP17A1, CYP21A2
17
Hide members
9.6SRD5A2, SRD5A1, CYP21A2, CYP17A1, CYP19A1, HSD3B2

Compounds for genes affiliated with Pseudohermaphroditism

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44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 24HMDB, 28IUPHAR, 2BitterDB
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Compounds related to Pseudohermaphroditism according to GeneCards/GeneDecks:

(show top 50)    (show all 135)
idCompoundScoreTop Affiliating Genes
1estrogen4410.6NR5A1, SRD5A1
2forskolin44 49 1112.4CYP17A1, LHCGR, WT1
3dutasteride44 1111.2SRD5A1, AR, CYP19A1, SRD5A2
4androstenediol4410.2HSD17B13, AR, CYP19A1, SRD5A1
5trilostane44 1111.2NR3C1, CGB5, HSD3B2, HSD3BP4
6cycloheximide4410.2ALPP, NR5A1, CGB5
717-hydroxypregnenolone4410.1HSD3B2, CYP17A1, HSD3BP4, CGB5, CYP21A2
8leuprolide acetate4410.1CYP21A2, CYP19A1, LHCGR, CGB5
9finasteride44 59 11 2413.1SRD5A1, CYP19A1, AR, SRD5A2
105alpha-androstane-3alpha,17beta-diol4410.1HSD3BP4, AR, CYP19A1, SRD5A1
11doca4410.1HSD3BP4, NR3C1, CYP17A1, CYP21A2, SRD5A1
12androstanedione44 11 2412.1SRD5A2, HSD17B13, HSD3BP4, CYP19A1, SRD5A1
133alpha-hydroxysteroid4410.1HSD17B13, AR, SRD5A1, HSD3BP4
14exemestane49 44 59 1113.1CYP17A1, CYP19A1, AR, SRD5A1
15aminoglutethimide44 1111.1CYP21A2, NR3C1, AR, CYP19A1, CGB5
16diethylstilbestrol44 28 1112.0CYP17A1, AR, CGB5, NR5A1, CYP19A1
175,16-androstadien-3beta-ol4410.0SRD5A1, CYP17A1, HSD3BP4
18progestins4410.0CYP19A1, SRD5A1, HSD17B13, NR3C1, AR
19corticosterone44 59 2412.0CGB5, CYP21A2, CYP17A1, NR3C1, NR5A1, LHCGR
20cyproteroneacetate449.9SRD5A1, CYP19A1, AR, NR3C1
21steroidal449.9NR3C1, CYP19A1, HSD3BP4, SRD5A1, CYP17A1, AR
22mifepristone44 59 28 1112.9NR3C1, AR, CYP19A1, CGB5, AMH, HSD3BP4
2317-hydroxyprogesterone44 2410.8HSD3BP4, CGB5, CYP19A1, CYP17A1, CYP21A2, SRD5A1
24ketoconazole44 28 11 2412.8SRD5A1, CYP17A1, CYP19A1, NR3C1, AR, CYP21A2
25serine449.8HSD17B3, ALPP, NR5A1, WT1, HSD17B13, LHCGR
26tamoxifen44 49 28 1112.7ALPP, HSD17B13, CYP17A1, CGB5, AMH, AR
2711beta-hydroxysteroid449.7HSD3B2, HSD17B13, HSD3BP4, CGB5, NR3C1, CYP17A1
28ribonucleic acid449.6HSD3BP4, HSD17B13, CGB5, NR5A1, CYP17A1, CYP21A2
29dexamethasone44 49 28 1112.6HSD3BP4, CYP17A1, CGB5, NR3C1, NR0B1, CYP21A2
30vitamin d449.5CYP17A1, SRD5A1, WT1, NR3C1, NR5A1, CYP19A1
31estrone44 28 11 2412.5AR, CGB5, NR5A1, CYP19A1, CYP17A1, SRD5A1
32cholesterol44 28 11 2412.5CYP21A2, ALPP, HSD3BP4, HSD3B2, HSD17B13, LHCGR
33gnrh449.5AR, CGB5, NR5A1, NR0B1, CYP19A1, CYP17A1
34nadph44 2410.5CYP19A1, HSD17B13, HSD17B3, HSD3B2, CYP17A1, CYP21A2
35acth449.5NR0B1, CYP17A1, CYP21A2, HSD3B2, HSD17B13, HSD3BP4
36arginine449.4WT1, AR, LHCGR, CGB5, CYP19A1, CYP17A1
37dihydrotestosterone44 28 11 2412.4SRD5A2, HSD3B2, HSD17B13, AR, CGB5, NR3C1
38genistein44 28 59 2 11 2414.4ALPP, CYP21A2, CGB5, AR, CYP17A1, CYP19A1
39dehydroepiandrosterone sulfate449.4HSD3B2, SRD5A1, CYP17A1, CYP19A1, NR5A1, CGB5
40progestin449.3HSD17B13, HSD3BP4, LHCGR, AR, CGB5, NR3C1
41androstenedione44 2410.3HSD17B13, HSD17B3, HSD3B2, HSD3BP4, AR, CGB5
42chloramphenicol44 2 1111.3ALPP, CYP21A2, CYP17A1, NR3C1, WT1, AR
43dhea449.2HSD3B2, HSD17B13, HSD3BP4, AR, CGB5, NR5A1
4417beta-hydroxysteroid449.2AR, CGB5, NR5A1, CYP19A1, CYP17A1, CYP21A2
453beta-hydroxysteroid449.2HSD3B2, HSD17B13, HSD3BP4, LHCGR, AR, CGB5
46retinoic acid44 2410.1NR5A1, CYP19A1, ALPP, WT1, AR, CGB5
47estradiol44 11 2410.9SRD5A2, AMH, LHCGR, HSD3BP4, SRD5A1, HSD17B13
48steroid448.7CYP19A1, WT1, LHCGR, HSD3BP4, HSD17B13, SRD5A1
49progesterone44 59 28 11 2412.6NR3C1, NR0B1, CYP19A1, CYP17A1, CYP21A2, SRD5A1
50testosterone44 59 11 2411.3HSD17B13, HSD3BP4, LHCGR, AMH, WT1, AR

GO Terms for genes affiliated with Pseudohermaphroditism

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16Gene Ontology
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Cellular components related to Pseudohermaphroditism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057899.6SRD5A2, SRD5A1, CYP21A2, CYP17A1, CYP19A1, HSD3B2

Biological processes related to Pseudohermaphroditism according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:00670410.4CYP21A2, CYP17A1, HSD3B2
2cellular response to gonadotropin stimulusGO:07137110.4LHCGR, WT1, CYP17A1
3negative regulation of female gonad developmentGO:200019510.4WT1, NR5A1
4mineralocorticoid biosynthetic processGO:00670510.4CYP21A2, HSD3B2
5male genitalia developmentGO:03053910.4WT1, LHCGR, HSD17B3
6sterol metabolic processGO:01612510.3CYP21A2, CYP17A1, CYP19A1
7sex determinationGO:00753010.3SRD5A1, WT1, AMH
8positive regulation of male gonad developmentGO:200002010.3NR5A1, WT1
9steroid biosynthetic processGO:00669410.3HSD3B2, NR0B1, CYP19A1, CYP17A1
10intracellular receptor signaling pathwayGO:03052210.2NR0B1, NR5A1, AR
11sex differentiationGO:00754810.2SRD5A1, CYP17A1, AR, AMH
12androgen metabolic processGO:00820910.2SRD5A2, CYP19A1
13androgen biosynthetic processGO:00670210.2HSD17B3, HSD3B2, CYP17A1, SRD5A1, SRD5A2
14prostate gland growthGO:06073610.2CYP19A1, AR
15adrenal gland developmentGO:03032510.1WT1, NR5A1, NR3C1, NR0B1, CYP17A1
16cell-cell signalingGO:00726710.1LHB, AMH, AR, NR5A1, SRD5A2
17transcription initiation from RNA polymerase II promoterGO:00636710.0AR, NR5A1, NR3C1, NR0B1
18Leydig cell differentiationGO:0333279.9CYP17A1, NR0B1
19male gonad developmentGO:0085849.9LHB, LHCGR, WT1, AR, NR5A1, NR0B1
20steroid metabolic processGO:0082029.9SRD5A2, HSD17B3, HSD3B2, CYP19A1, CYP17A1, CYP21A2
21small molecule metabolic processGO:0442819.5HSD17B3, HSD3B2, CYP19A1, CYP17A1, CYP21A2, SRD5A1

Molecular functions related to Pseudohermaphroditism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
13-oxo-5-alpha-steroid 4-dehydrogenase activityGO:00386510.3SRD5A2, SRD5A1
2cholestenone 5-alpha-reductase activityGO:04775110.2SRD5A2, SRD5A1
3ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.9NR0B1, NR5A1, AR
4sequence-specific DNA bindingGO:0435659.8NR0B1, NR3C1, NR5A1, AR, WT1
5electron carrier activityGO:0090559.6CYP19A1, CYP17A1, CYP21A2, SRD5A1

Products for genes affiliated with Pseudohermaphroditism

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3CDC
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28IUPHAR
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40NDF-RT
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