MCID: PSD009
MIFTS: 41

Pseudohermaphroditism malady

Reproductive diseases category

Summaries for Pseudohermaphroditism

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

MalaCards based summary: 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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Pseudohermaphroditism, Aliases & Descriptions:

Name: Pseudohermaphroditism 9 11 43
 
Indeterminate Sex and Pseudohermaphroditism 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:3765
ICD9CM27 752.7
ICD1025 Q56, Q56.3

Related Diseases for Pseudohermaphroditism

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

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia30.8HSD3B2, CYP17A1
2gynecomastia30.8SRD5A2, CYP17A1
3androgen insensitivity30.7SRD5A2, HSD17B3
4hypogonadism30.2LHCGR
5addison's disease29.9HSD3B2, CYP17A1
6leydig cell tumor29.8LHCGR, CYP17A1
7hypospadias29.7CYP17A1, HSD3B2, HSD17B3, SRD5A2
85-alpha reductase deficiency10.5
9leydig cells hypoplasia10.5
10male pseudohermaphroditism intellectual disability syndrome, verloes type10.5
11wilms tumor10.4
12pseudohermaphroditism, male, with gynecomastia10.4
13denys-drash syndrome10.4
14gonadal dysgenesis10.3
15aromatase deficiency10.2
16male pseudohermaphroditism due to defective lh molecule10.2
17cryptorchidism10.2
18leydig cell hypoplasia with pseudohermaphroditism10.2
19gonadoblastoma10.2
20anorchia10.2
21frasier syndrome10.1
22glomerulonephritis10.1
23persistent mullerian duct syndrome10.1
24mixed gonadal dysgenesis10.1
25hermaphroditism10.1
26vaginitis10.1
27mental retardation10.1
28chondrodysplasia - disorder of sex development10.1
2946,xy partial gonadal dysgenesis10.1
30infertility10.1LHCGR
31pseudovaginal perineoscrotal hypospadias10.0
32microphthalmia, syndromic 710.0
33androgen insensitivity, partial, with or without breast cancer10.0
34adenoma10.0
35turner syndrome10.0
36genito palato cardiac syndrome10.0
37precocious puberty10.0
3846,xy disorder of sex development - adrenal insufficiency due to cyp11a1 deficiency10.0
3946,xy gonadal dysgenesis - motor and sensory neuropathy10.0
4046,xx disorder of sex development - anorectal anomalies10.0
4146,xx disorder of sex development - skeletal anomalies10.0
42leydig cell hypoplasia due to lhb deficiency10.0
43leydig cell hypoplasia due to partial lh resistance10.0
44leydig cell hypoplasia due to complete lh resistance10.0
45polycystic ovary syndrome10.0HSD3B2, CYP17A1
46cushing's syndrome9.9CYP17A1, LHCGR
47meier-gorlin syndrome 19.9
48c syndrome9.9
49tetralogy of fallot9.9
50aniridia9.9

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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Drug clinical trials:

Search ClinicalTrials for Pseudohermaphroditism

Search NIH Clinical Center for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

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Anatomical Context for Pseudohermaphroditism

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MalaCards organs/tissues related to Pseudohermaphroditism:

31
Testis, Ovary, Testes, Skin, Bone, Kidney, Uterus, Pituitary, Bone marrow, Cortex, Heart, Lung, Adrenal gland, Breast

Animal Models for Pseudohermaphroditism or affiliated genes

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MGI Mouse Phenotypes related to Pseudohermaphroditism:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1SRD5A2, LHB, LHCGR, CYP17A1

Publications for Pseudohermaphroditism

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Articles related to Pseudohermaphroditism:

(show top 50)    (show all 476)
idTitleAuthorsYear
1
Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis. (25599724)
2014
2
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. (19268447)
2009
3
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. (18314109)
2008
4
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. (18097518)
2008
5
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (17509588)
2008
6
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1). (12210571)
2002
7
Nongenetic male pseudohermaphroditism and reduced prenatal growth. (11596604)
2001
8
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism. (11300937)
2001
9
Normal bone density in male pseudohermaphroditism due to 5alpha- reductase 2 deficiency. (11781593)
2001
10
The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. (9467575)
1998
11
Female pseudohermaphroditism]. (9396289)
1997
12
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome. (9212186)
1997
13
Male pseudohermaphroditism in a cat. (9121130)
1997
14
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
15
Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies. (8897042)
1996
16
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. (7719343)
1995
17
XX male pseudohermaphroditism in a horse. (7601700)
1995
18
Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors. (7913293)
1994
19
Endocrine findings in male pseudohermaphroditism. (8339744)
1993
20
Male pseudohermaphroditism. (1485188)
1992
21
Dysgenetic male pseudohermaphroditism in a 45,X/46,X,del(Y)(q11.1) mosaic infant. (3565468)
1987
22
Linkage of genes for ectopic testes and male pseudohermaphroditism in the rat. (3958481)
1986
23
An unusual case of male pseudohermaphroditism: complete testicular feminization associated with incomplete differentiation of the MA1llerian duct. (6319204)
1984
24
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
25
Deficiency of androgen receptors in male pseudohermaphroditism. (6823726)
1983
26
Familial incomplete male pseudohermaphroditism associated with impaired nuclear androgen retention. Studies in cultured skin fibroblasts. (6833492)
1983
27
Two types of male pseudohermaphroditism due to 17, 20-desmolase deficiency. (6212590)
1982
28
Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. (6263934)
1981
29
46,XY male pseudohermaphroditism due to early foetal testicular dysgenesis. (7293662)
1981
30
Dysgenetic male pseudohermaphroditism. (650759)
1978
31
Hereditary male pseudohermaphroditism associated with an unstable form of 5 alpha-reductase. (29056)
1978
32
Pseudo-pseudohermaphroditism and multiple neurofibromatosis. (98644)
1978
33
Male pseudohermaphroditism consistent with 17,20-desmolase deficiency. (184011)
1976
34
Paraphimosis in a pseudohermaphrodite dog. (1048798)
1976
35
A fetopathological study of female pseudohermaphroditism. Report of four autopsy cases. (1230460)
1975
36
Pseudohermaphroditism, nephron disorder and wilms' tumor: a unifying concept. (4153449)
1974
37
Familial 78XX male pseudohermaphroditism in three dogs. (4855630)
1974
38
Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. (4352099)
1972
39
A case report. Equine pseudohermaphroditism. (5892527)
1965
40
FAMILIAL MALE PSEUDOHERMAPHRODITISM. (14329824)
1965
41
FAMILIAL FEMALE PSEUDOHERMAPHRODITISM WITH HYPERTENSION AND PENILE URETHRA. (14063383)
1963
42
CANINE HEMOPHILIA AND MALE PSEUDOHERMAPHRODITISM; CYTOGENETIC STUDIES. (14084845)
1963
43
Non-adrenal female pseudohermaphroditism associated with hormone administration in pregnancy. (13645665)
1959
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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Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for genes affiliated with Pseudohermaphroditism

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Pathways related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
estradiol biosynthesis II36
androgen biosynthesis36
estradiol biosynthesis I36
progesterone biosynthesis36
9.1SRD5A2, HSD17B3, CYP17A1
29.0LHCGR, LHB
39.0LHB, LHCGR
4
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.0HSD17B3, HSD3B2, CYP17A1
5
Show member pathways
Estrogen biosynthesis58
Androstenedione and testosterone biosynthesis and metabolism p.158
9.0CYP17A1, HSD3B2, HSD17B3
6
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
8.6CYP17A1, HSD3B2, HSD17B3, SRD5A2
7
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
8.5LHB, LHCGR, CYP17A1
88.0CYP17A1, LHCGR, LHB, HSD3B2
9
Show member pathways
7.9SRD5A2, HSD17B3, HSD3B2, LHB, CYP17A1
10
Show member pathways
7.9SRD5A2, HSD17B3, HSD3B2, LHB, CYP17A1

Compounds for genes affiliated with Pseudohermaphroditism

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Compounds related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

(show all 34)
idCompoundScoreTop Affiliating Genes
1Androst-5-ene-3b,17b-diol249.9HSD17B3, HSD3B2
217a-Hydroxypregnenolone249.8CYP17A1, HSD3B2
3Pregnenolone24 1210.8HSD3B2, CYP17A1
4Dehydroepiandrosterone24 1210.8CYP17A1, HSD3B2
517-hydroxypregnenolone439.8CYP17A1, HSD3B2
617-hydroxyprogesterone43 2410.7HSD3B2, CYP17A1
711beta-hydroxysteroid439.7HSD3B2, CYP17A1
8dehydroepiandrosterone sulfate439.7CYP17A1, HSD3B2
9dhea439.6HSD3B2, CYP17A1
10valine439.5SRD5A2, CYP17A1
11estrone43 28 24 1212.5HSD17B3, CYP17A1
12Testosterone sulfate249.5SRD5A2, HSD17B3, HSD3B2
13dihydrotestosterone43 28 24 1212.4SRD5A2, HSD3B2, CYP17A1
14NADP249.3HSD17B3, HSD3B2, CYP17A1
15nadh43 24 1211.3HSD17B3, HSD3B2, CYP17A1
16progestin439.2LHCGR, CYP17A1
17corticosterone43 59 2411.2CYP17A1, LHCGR
18ribonucleic acid439.0CYP17A1, LHCGR, SRD5A2
1917beta-hydroxysteroid439.0CYP17A1, HSD3B2, HSD17B3, SRD5A2
20androstenedione43 2410.0SRD5A2, HSD17B3, HSD3B2, CYP17A1
21nadph43 249.9SRD5A2, HSD17B3, HSD3B2, CYP17A1
22leucine438.9SRD5A2, LHCGR, CYP17A1
23acth438.9CYP17A1, LHCGR, HSD3B2
24forskolin43 49 1210.9CYP17A1, LHCGR, HSD3B2
25gnrh438.8LHB, LHCGR, CYP17A1
26cholesterol43 28 24 1211.8CYP17A1, LHCGR, HSD3B2
27estradiol43 24 1210.6CYP17A1, LHCGR, HSD17B3, SRD5A2
28arginine438.6CYP17A1, LHCGR, SRD5A2
293beta-hydroxysteroid438.6SRD5A2, HSD3B2, LHCGR, CYP17A1
30progesterone43 28 59 24 1212.6CYP17A1, LHCGR, HSD3B2, SRD5A2
31steroid438.5CYP17A1, LHCGR, HSD3B2, SRD5A2
32threonine438.4SRD5A2, LHCGR, CYP17A1
33testosterone43 59 24 1211.1CYP17A1, LHCGR, HSD3B2, HSD17B3, SRD5A2
34estrogen438.1CYP17A1, LHCGR, HSD3B2, HSD17B3, SRD5A2

GO Terms for genes affiliated with Pseudohermaphroditism

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057898.6SRD5A2, HSD17B3, HSD3B2, CYP17A1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:00067049.5CYP17A1, HSD3B2
2cell-cell signalingGO:00072679.4SRD5A2, LHB
3steroid biosynthetic processGO:00066949.3CYP17A1, HSD3B2
4male genitalia developmentGO:00305399.2HSD17B3, LHCGR
5cellular response to gonadotropin stimulusGO:00713719.2LHCGR, CYP17A1
6male gonad developmentGO:00085848.8SRD5A2, LHB, LHCGR
7androgen biosynthetic processGO:00067028.8SRD5A2, HSD17B3, HSD3B2, CYP17A1
8steroid metabolic processGO:00082028.7CYP17A1, HSD3B2, HSD17B3, SRD5A2
9small molecule metabolic processGO:00442818.3SRD5A2, HSD17B3, HSD3B2, CYP17A1

Products for genes affiliated with Pseudohermaphroditism

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Sources for Pseudohermaphroditism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet