MCID: PSD009
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Pseudohermaphroditism malady

Reproductive diseases, Endocrine diseases categories

Summaries for Pseudohermaphroditism

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 superpathway of steroid hormone biosynthesis and Hormone ligand-binding receptors. The compounds Androst-5-ene-3b,17b-diol and 17a-Hydroxypregnenolone have been mentioned in the context of this disorder. Affiliated tissues include testis, ovary and testes, and related mouse phenotype reproductive system.

Aliases & Classifications for Pseudohermaphroditism

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9Disease Ontology, 11DISEASES, 46Novoseek, 59SNOMED-CT, 63UMLS, 28ICD9CM, 26ICD10
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Classifications:

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


Aliases & Descriptions:

pseudohermaphroditism 9 11 46
indeterminate sex and pseudohermaphroditism 9
pseudohermaphroditism nos disorder 9
indeterminate sex 9


External Ids:

Disease Ontology9 DOID:3765
ICD9CM28 752.7
ICD1026 Q56, Q56.3

Related Diseases for Pseudohermaphroditism

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18GeneCards, 19GeneDecks
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Diseases related to Pseudohermaphroditism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia30.7CYP17A1, HSD3B2
2gynecomastia30.6CYP17A1, SRD5A2
3hypogonadism30.1LHCGR
4hypospadias30.0CYP17A1, SRD5A2, HSD3B2, HSD17B3
5addison's disease29.9HSD3B2, CYP17A1
6leydig cell tumor29.8LHCGR, CYP17A1
7ovarian cancer29.7CYP17A1, SRD5A2, LHCGR
85-alpha reductase deficiency10.5
9leydig cell hypoplasia with pseudohermaphroditism10.4
10male pseudohermaphroditism intellectual disability syndrome, verloes type10.4
11wilms tumor10.4
12leydig cells hypoplasia10.4
13denys-drash syndrome10.3
14gonadal dysgenesis10.3
15cryptorchidism10.2
16gonadoblastoma10.2
17hypertension10.2
1821-hydroxylase deficiency10.1
19mixed gonadal dysgenesis10.1
20glomerulonephritis10.1
21hermaphroditism10.1
22vaginitis10.1
2317-beta hydroxysteroid dehydrogenase 3 deficiency10.1
24anorchia10.1
25aromatase deficiency10.1
26male pseudohermaphroditism due to defective lh molecule10.1
27mental retardation10.1
28androgen insensitivity syndrome10.0HSD17B3, SRD5A2
29cleft palate10.0
30congenital adrenal insufficiency10.0
31persistent mullerian duct syndrome10.0
32adenoma10.0
33turner syndrome10.0
34precocious puberty10.0
3546xy sex reversal 310.0
3646xy partial gonadal dysgenesis, with minifascicular neuropathy10.0
37male pseudohermaphroditism due to defective lh10.0
38leydig cell hypoplasia due to lhb deficiency10.0
39infertility10.0LHCGR
40polycystic ovary syndrome10.0HSD3B2, CYP17A1
41cushing's syndrome10.0CYP17A1, LHCGR
42penis agenesis10.0LHCGR, CYP17A1, SRD5A2
43hyperandrogenism9.9HSD3B2, CYP17A1, LHCGR
44prostate cancer9.9SRD5A2, HSD3B2, HSD17B3, CYP17A1
45neurofibromatosis9.9
46panhypopituitarism9.9
47cerebellar angioblastoma9.9
48alpha thalassemia9.9
49luteoma9.9
50hypoplastic left heart syndrome9.9

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to pseudohermaphroditism

Symptoms for Pseudohermaphroditism

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Drugs & Therapeutics for Pseudohermaphroditism

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Pseudohermaphroditism

Drug clinical trials:

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Search NIH Clinical Center for Pseudohermaphroditism

Search CenterWatch for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

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Anatomical Context for Pseudohermaphroditism

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34MalaCards
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MalaCards organs/tissues related to Pseudohermaphroditism:

34
Testis, Ovary, Testes, Skin, Bone, Kidney, Uterus, Pituitary, Prostate, Breast, Adrenal gland, Lung, Heart, Cortex, Bone marrow

Animal Models for Pseudohermaphroditism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pseudohermaphroditism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1SRD5A2, LHB, LHCGR, CYP17A1

Publications for Pseudohermaphroditism

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53PubMed
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Articles related to Pseudohermaphroditism:

(show top 50)    (show all 475)
idTitleAuthorsYear
1
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. (19268447)
2009
2
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. (18314109)
2008
3
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. (18097518)
2008
4
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (17509588)
2008
5
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1). (12210571)
2002
6
Nongenetic male pseudohermaphroditism and reduced prenatal growth. (11596604)
2001
7
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism. (11300937)
2001
8
Normal bone density in male pseudohermaphroditism due to 5alpha- reductase 2 deficiency. (11781593)
2001
9
The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. (9467575)
1998
10
Female pseudohermaphroditism]. (9396289)
1997
11
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome. (9212186)
1997
12
Male pseudohermaphroditism in a cat. (9121130)
1997
13
A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. (8626842)
1996
14
Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies. (8897042)
1996
15
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. (7719343)
1995
16
XX male pseudohermaphroditism in a horse. (7601700)
1995
17
Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors. (7913293)
1994
18
Endocrine findings in male pseudohermaphroditism. (8339744)
1993
19
Male pseudohermaphroditism. (1485188)
1992
20
Dysgenetic male pseudohermaphroditism in a 45,X/46,X,del(Y)(q11.1) mosaic infant. (3565468)
1987
21
Linkage of genes for ectopic testes and male pseudohermaphroditism in the rat. (3958481)
1986
22
An unusual case of male pseudohermaphroditism: complete testicular feminization associated with incomplete differentiation of the MA1llerian duct. (6319204)
1984
23
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
24
Deficiency of androgen receptors in male pseudohermaphroditism. (6823726)
1983
25
Familial incomplete male pseudohermaphroditism associated with impaired nuclear androgen retention. Studies in cultured skin fibroblasts. (6833492)
1983
26
Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. (6263934)
1981
27
46,XY male pseudohermaphroditism due to early foetal testicular dysgenesis. (7293662)
1981
28
Dysgenetic male pseudohermaphroditism. (650759)
1978
29
Hereditary male pseudohermaphroditism associated with an unstable form of 5 alpha-reductase. (29056)
1978
30
Pseudo-pseudohermaphroditism and multiple neurofibromatosis. (98644)
1978
31
Male pseudohermaphroditism consistent with 17,20-desmolase deficiency. (184011)
1976
32
Paraphimosis in a pseudohermaphrodite dog. (1048798)
1976
33
A fetopathological study of female pseudohermaphroditism. Report of four autopsy cases. (1230460)
1975
34
Male and female pseudohermaphroditism. (4452636)
1974
35
Pseudohermaphroditism, nephron disorder and wilms' tumor: a unifying concept. (4153449)
1974
36
Familial 78XX male pseudohermaphroditism in three dogs. (4855630)
1974
37
Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. (4352099)
1972
38
A case report. Equine pseudohermaphroditism. (5892527)
1965
39
FAMILIAL MALE PSEUDOHERMAPHRODITISM. (14329824)
1965
40
FAMILIAL FEMALE PSEUDOHERMAPHRODITISM WITH HYPERTENSION AND PENILE URETHRA. (14063383)
1963
41
CANINE HEMOPHILIA AND MALE PSEUDOHERMAPHRODITISM; CYTOGENETIC STUDIES. (14084845)
1963
42
Non-adrenal female pseudohermaphroditism associated with hormone administration in pregnancy. (13645665)
1959
43
Phallic urethra in female pseudohermaphroditism. (13487072)
1958
44
Female non-adrenal pseudohermaphroditism. (13605771)
1958
45
Female pseudohermaphroditism; report of case in an infant born of a mother receiving methyltestosterone during pregnancy. (13400928)
1957
46
Male pseudohermaphroditism in three siblings. (13007282)
1953
47
Male pseudohermaphroditism. (13051595)
1953
48
Male pseudohermaphroditism proved by surgical exploration and microscopic examination; a case report with speculations concerning pathogenesis. (18863968)
1948
49
Adrenal tumours and pseudohermaphroditism; a hormone study of cases. (20266369)
1947
50
The excretion of neutral 17-ketosteroids in two cases of male pseudohermaphroditism. (21025120)
1946

Variations for Pseudohermaphroditism

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Expression for genes affiliated with Pseudohermaphroditism

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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 61Thomson Reuters
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Pathways related to Pseudohermaphroditism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
estradiol biosynthesis II39
androgen biosynthesis39
estradiol biosynthesis I39
progesterone biosynthesis39
9.1SRD5A2, HSD17B3, CYP17A1
29.0LHCGR, LHB
39.0LHB, LHCGR
4
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.0HSD3B2, HSD17B3, CYP17A1
5
Show member pathways
Estrogen biosynthesis61
Androstenedione and testosterone biosynthesis and metabolism p.161
9.0HSD17B3, CYP17A1, HSD3B2
6
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism39
8.6HSD17B3, CYP17A1, HSD3B2, SRD5A2
7
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.5LHCGR, CYP17A1, LHB
88.0HSD3B2, LHB, CYP17A1, LHCGR
9
Show member pathways
7.9HSD17B3, CYP17A1, LHB, HSD3B2, SRD5A2
10
Show member pathways
7.9CYP17A1, LHB, HSD3B2, HSD17B3, SRD5A2

Compounds for genes affiliated with Pseudohermaphroditism

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25HMDB, 12DrugBank, 46Novoseek, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB
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Compounds related to Pseudohermaphroditism according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1Androst-5-ene-3b,17b-diol259.9HSD17B3, HSD3B2
217a-Hydroxypregnenolone259.8CYP17A1, HSD3B2
3Pregnenolone25 1210.8HSD3B2, CYP17A1
4Dehydroepiandrosterone25 1210.8CYP17A1, HSD3B2
517-hydroxypregnenolone469.8CYP17A1, HSD3B2
617-hydroxyprogesterone46 2510.7HSD3B2, CYP17A1
711beta-hydroxysteroid469.7HSD3B2, CYP17A1
8dehydroepiandrosterone sulfate469.7CYP17A1, HSD3B2
9dhea469.6HSD3B2, CYP17A1
10valine469.5SRD5A2, CYP17A1
11estrone46 30 25 1212.5HSD17B3, CYP17A1
12Testosterone sulfate259.5SRD5A2, HSD17B3, HSD3B2
13dihydrotestosterone46 30 25 1212.4SRD5A2, HSD3B2, CYP17A1
14NADP259.3HSD17B3, HSD3B2, CYP17A1
15nadh46 25 1211.3HSD17B3, HSD3B2, CYP17A1
16progestin469.2LHCGR, CYP17A1
17corticosterone46 62 2511.2CYP17A1, LHCGR
18ribonucleic acid469.0CYP17A1, LHCGR, SRD5A2
1917beta-hydroxysteroid469.0CYP17A1, HSD3B2, HSD17B3, SRD5A2
20androstenedione46 2510.0SRD5A2, HSD17B3, HSD3B2, CYP17A1
21nadph46 259.9SRD5A2, HSD17B3, HSD3B2, CYP17A1
22leucine468.9SRD5A2, LHCGR, CYP17A1
23acth468.9CYP17A1, LHCGR, HSD3B2
24forskolin46 52 1210.9CYP17A1, LHCGR, HSD3B2
25gnrh468.8LHB, LHCGR, CYP17A1
26cholesterol46 30 25 1211.8CYP17A1, LHCGR, HSD3B2
27estradiol46 25 1210.6CYP17A1, LHCGR, HSD17B3, SRD5A2
28arginine468.6CYP17A1, LHCGR, SRD5A2
293beta-hydroxysteroid468.6SRD5A2, HSD3B2, LHCGR, CYP17A1
30progesterone46 30 62 25 1212.6CYP17A1, LHCGR, HSD3B2, SRD5A2
31steroid468.5CYP17A1, LHCGR, HSD3B2, SRD5A2
32threonine468.4SRD5A2, LHCGR, CYP17A1
33testosterone46 62 25 1211.1CYP17A1, LHCGR, HSD3B2, HSD17B3, SRD5A2
34estrogen468.1CYP17A1, LHCGR, HSD3B2, HSD17B3, SRD5A2

GO Terms for genes affiliated with Pseudohermaphroditism

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17Gene Ontology
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Cellular components related to Pseudohermaphroditism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.6SRD5A2, HSD17B3, HSD3B2, CYP17A1

Biological processes related to Pseudohermaphroditism according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:0067049.5HSD3B2, CYP17A1
2cell-cell signalingGO:0072679.4SRD5A2, LHB
3steroid biosynthetic processGO:0066949.3CYP17A1, HSD3B2
4male genitalia developmentGO:0305399.2HSD17B3, LHCGR
5cellular response to gonadotropin stimulusGO:0713719.2LHCGR, CYP17A1
6male gonad developmentGO:0085848.8LHCGR, LHB, SRD5A2
7androgen biosynthetic processGO:0067028.8SRD5A2, HSD17B3, HSD3B2, CYP17A1
8steroid metabolic processGO:0082028.7HSD3B2, HSD17B3, SRD5A2, CYP17A1
9small molecule metabolic processGO:0442818.3HSD17B3, HSD3B2, CYP17A1, SRD5A2

Products for genes affiliated with Pseudohermaphroditism

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Sources for Pseudohermaphroditism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet