MCID: PSD009
MIFTS: 41

Pseudohermaphroditism malady

Categories: Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pseudohermaphroditism

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Aliases & Descriptions for Pseudohermaphroditism:

Name: Pseudohermaphroditism 10 47 12
 
Indeterminate Sex and Pseudohermaphroditism 10

Classifications:



External Ids:

Disease Ontology10 DOID:3765
ICD1027 Q56, Q56.3
ICD9CM29 752.7
MeSH36 D012734
UMLS65 C0021193, C0033804

Summaries for Pseudohermaphroditism

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Wikipedia:68 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 meacham syndrome and hypogonadism. An important gene associated with Pseudohermaphroditism is SRD5A2 (Steroid 5 Alpha-Reductase 2), and among its related pathways are Ovarian Infertility Genes and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include testis, ovary and breast, and related mouse phenotypes are renal/urinary system and endocrine/exocrine gland.

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 126)
idRelated DiseaseScoreTop Affiliating Genes
1meacham syndrome29.2AMH, WT1
2hypogonadism26.7AMH, AMHR2, AR, CYP17A1, CYP19A1, HSD17B3
3male pseudohermaphroditism intellectual disability syndrome, verloes type12.1
4leydig cell hypoplasia with pseudohermaphroditism12.0
5pseudohermaphroditism, male, with gynecomastia12.0
6male pseudohermaphroditism due to defective lh molecule11.9
7aromatase deficiency11.6
8leydig cells hypoplasia11.5
9denys-drash syndrome11.5
10pseudovaginal perineoscrotal hypospadias11.5
115-alpha reductase deficiency11.5
1246xy sex reversal 811.3
1346,xy disorder of sex development due to 5-alpha-reductase 2 deficiency11.2
14lipoid adrenal hyperplasia11.2
15persistent mullerian duct syndrome, type ii11.2
1646,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency10.8
17chondrodysplasia-disorder of sex development syndrome10.8
18dysmorphism-short stature-deafness-disorder of sex development syndrome10.8
1946,xx disorder of sex development-anorectal anomalies syndrome10.8
2046,xx disorder of sex development-skeletal anomalies syndrome10.8
21androgen insensitivity10.6
22persistent mullerian duct syndrome10.5
23pseudohermaphroditism10.5AR, SRD5A2
24hermaphroditism10.4
25mediastinal cancer10.4AR, LHCGR
26tethered cord syndrome10.4CYP19A1, LHCGR
27renal adenoma10.4CYP17A1, LHCGR
28richter's syndrome10.3CYP17A1, HSD3B2
29suppurative thyroiditis10.3CYP19A1, LHCGR
30craniofrontonasal dysplasia10.3AR, CYP19A1
31retroperitoneal sarcoma10.3AR, CYP19A1
32complete atrioventricular canal10.3AR, CYP19A1
33congenital adrenal hyperplasia10.2
34prostatic cyst10.2AR, CYP19A1
35mycobacterium abscessus10.2CYP17A1, CYP19A1
36gynecomastia10.2
37progesterone-receptor negative breast cancer10.1CYP17A1, CYP19A1
38loeys-dietz syndrome10.1CYP17A1, CYP19A1
39benign prostate phyllodes tumor10.1AR, CYP17A1, SRD5A2
40gonadal dysgenesis10.1
41basal cell carcinoma 710.1CYP17A1, CYP19A1
42epilepsy, idiopathic generalized 1110.1AR, CYP19A1, SRD5A2
43external ear disease10.1AMHR2, CYP19A1
44verrucous keratotic hemangioma10.1AR, CYP19A1, SRD5A2
45spinal and bulbar muscular atrophy of kennedy10.1AR, CYP19A1, SRD5A2
46paroxysmal choreoathetosis10.0AR, CYP19A1
47atrioventricular block10.0CYP17A1, HSD3B2
48leiomyoma10.0AR, CYP19A1, HSD17B3
49frasier syndrome10.0
50uveal diseases10.0CYP19A1, WT1

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mutation Analysis of 17╬▓hydroxysteroid Dehydrogenase 3 DeficiencyRecruitingNCT00173654
2Mutation Analysis of 17╬▒-HydroxylaseRecruitingNCT00172510

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:

33
Testis, Ovary, Breast, Prostate, Lung, T cells, Thyroid

Animal Models for Pseudohermaphroditism or affiliated genes

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MGI Mouse Phenotypes related to Pseudohermaphroditism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.0AMHR2, AR, CYP19A1, LHCGR, WT1
2MP:00053797.0AMH, AMHR2, AR, CYP19A1, LHCGR, SRD5A2
3MP:00053896.2AMH, AMHR2, AR, CYP17A1, CYP19A1, LHCGR

Publications for Pseudohermaphroditism

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Articles related to Pseudohermaphroditism:

(show top 50)    (show all 483)
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
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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Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for genes affiliated with Pseudohermaphroditism

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GO Terms for genes affiliated with Pseudohermaphroditism

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1phthalate metabolic processGO:001896310.3CYP17A1, SRD5A2
2response to steroid hormoneGO:004854510.3CYP17A1, SRD5A2
3cellular response to gonadotropin stimulusGO:007137110.1CYP17A1, WT1
4male genitalia developmentGO:003053910.0LHCGR, SRD5A2
5Leydig cell differentiationGO:00333279.8AR, CYP17A1
6male gonad developmentGO:00085849.7CYP17A1, SRD5A2, WT1
7androgen biosynthetic processGO:00067029.6CYP17A1, HSD17B3, HSD3B2, SRD5A2
8steroid biosynthetic processGO:00066949.0CYP17A1, CYP19A1, HSD3B2, SRD5A2
9small molecule metabolic processGO:00442819.0CYP19A1, HSD17B3, HSD3B2, SRD5A2
10sex differentiationGO:00075488.5AMH, AMHR2, AR, CYP17A1

Sources for Pseudohermaphroditism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet