MCID: PSD009
MIFTS: 39

Pseudohermaphroditism malady

Categories: Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pseudohermaphroditism

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Aliases & Descriptions for Pseudohermaphroditism:

Name: Pseudohermaphroditism 11 13 48
 
Indeterminate Sex and Pseudohermaphroditism 11

Classifications:



External Ids:

Disease Ontology11 DOID:3765
ICD1028 Q56, Q56.3
ICD9CM30 752.7
MeSH37 D012734

Summaries for Pseudohermaphroditism

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Wikipedia:69 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 hypogonadism and leydig cell hypoplasia with pseudohermaphroditism. An important gene associated with Pseudohermaphroditism is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3), 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 testes, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

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 116)
idRelated DiseaseScoreTop Affiliating Genes
1hypogonadism28.8AMH, AR, CYP19A1
2leydig cell hypoplasia with pseudohermaphroditism12.2
3male pseudohermaphroditism/mental retardation syndrome, verloes type12.0
4pseudohermaphroditism, female, with skeletal anomalies12.0
5pseudohermaphroditism, male, with gynecomastia12.0
6chondrodysplasia-pseudohermaphroditism syndrome11.9
7male pseudohermaphroditism intellectual disability syndrome, verloes type11.9
8male pseudohermaphroditism due to defective lh molecule11.8
9pseudovaginal perineoscrotal hypospadias11.8
10aromatase deficiency11.6
11denys-drash syndrome11.5
125-alpha reductase deficiency11.5
1346xy sex reversal 811.2
1446,xx disorder of sex development-anorectal anomalies syndrome11.2
15lipoid adrenal hyperplasia11.2
16persistent mullerian duct syndrome, type ii11.2
17dysmorphism-short stature-deafness-disorder of sex development syndrome10.8
18leydig cell hypoplasia10.6
19androgen insensitivity10.6
20lichen planus pemphigoides10.5HSD17B3, LHCGR
21hermaphroditism10.4
22persistent mullerian duct syndrome10.4
23leukorrhea10.4AR, SRD5A2
24mediastinal mesenchymal tumor10.3AR, LHCGR
25congenital adrenal hyperplasia10.3
26mongolian spot10.3AR, SRD5A2
27familial tumoral calcinosis10.2CYP19A1, LHCGR
28benign shuddering attacks10.2CYP17A1, HSD3B2
29precocious puberty, male10.2CYP19A1, LHCGR
30riedel's fibrosing thyroiditis10.2CYP19A1, LHCGR
31gynecomastia10.2
32ovary neuroendocrine neoplasm10.1AR, LHCGR
33dystonia-parkinsonism, x-linked10.1AR, CYP19A1
34retroperitoneum carcinoma10.1AR, CYP19A1
35gonadal dysgenesis10.1
36first-degree atrioventricular block10.1CYP17A1, HSD3B2
37glioblastoma classical subtype10.1AR, CYP19A1
38frasier syndrome10.0
39cryptorchidism10.0
40gonadoblastoma10.0
41inguinal hernia10.0
42prolapse of lacrimal gland10.0AR, CYP19A1
4346xy partial gonadal dysgenesis, with minifascicular neuropathy10.0
44adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete10.0
45hypogonadotropic hypogonadism 23 with or without anosmia10.0
4646,xy partial gonadal dysgenesis10.0
47nephrogenic adenofibroma10.0CYP17A1, CYP19A1
48malakoplakia9.9CYP17A1, CYP19A1
49glomerulonephritis9.9
50hypospadias9.9

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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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:

34
Testis, Ovary, Testes, Skin, Uterus, Kidney, Bone

Animal Models for Pseudohermaphroditism or affiliated genes

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MGI Mouse Phenotypes related to Pseudohermaphroditism:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.4AMH, AMHR2, AR, CYP19A1, LHCGR, SRD5A2
2MP:00053896.8AMH, AMHR2, AR, CYP17A1, CYP19A1, LHCGR

Publications for Pseudohermaphroditism

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Articles related to Pseudohermaphroditism:

(show top 50)    (show all 485)
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
Persistent cloaca, fused kidneys, female pseudohermaphroditism and skeletal anomalies in a simmental calf. (19469769)
2009
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
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. (16098368)
2005
7
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism. (11300937)
2001
8
Use of imposex (pseudohermaphroditism) as indicator of the occurrence of organotin compounds in Portuguese coastal waters--Sado and Mira estuaries. (11409195)
2001
9
Combined treatment of pseudohermaphroditism]. (11593672)
2000
10
Female pseudohermaphroditism]. (9396289)
1997
11
Familial male pseudohermaphroditism. (10771866)
1997
12
Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies. (8897042)
1996
13
Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. (8723114)
1996
14
XX male pseudohermaphroditism in a horse. (7601700)
1995
15
Endocrine findings in male pseudohermaphroditism. (8339744)
1993
16
Dysgenetic male pseudohermaphroditism in a 45,X/46,X,del(Y)(q11.1) mosaic infant. (3565468)
1987
17
Linkage of genes for ectopic testes and male pseudohermaphroditism in the rat. (3958481)
1986
18
Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy. (3017038)
1986
19
Male pseudohermaphroditism due to 3 beta-hydroxysteroid dehydrogenase-isomerase deficiency associated with atrial septal defect. (3867211)
1985
20
An unusual case of male pseudohermaphroditism: complete testicular feminization associated with incomplete differentiation of the MA1llerian duct. (6319204)
1984
21
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
22
Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency: diagnosis by gas chromatography--mass spectrometry. (6296744)
1983
23
Male pseudohermaphroditism presumably due to 5 alpha reductase deficiency. (6643385)
1983
24
A case of male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. (6750188)
1982
25
Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. (6263934)
1981
26
46,XY male pseudohermaphroditism due to early foetal testicular dysgenesis. (7293662)
1981
27
Different aspects of 5 alpha-reductase deficiency in male pseudohermaphroditism and hypothyroidism. (7307277)
1981
28
Male pseudohermaphroditism secondary to 5 alpha-reductase deficiency--a model for the role of androgens in both the development of the male phenotype and the evolution of a male gender identity. (491628)
1979
29
Hereditary male pseudohermaphroditism associated with an unstable form of 5 alpha-reductase. (29056)
1978
30
The nosology of male pseudohermaphroditism due to androgen insensitivity. (365270)
1978
31
Male pseudohermaphroditism consistent with 17,20-desmolase deficiency. (184011)
1976
32
Paraphimosis in a pseudohermaphrodite dog. (1048798)
1976
33
Pseudohermaphroditism due to XY gonadal absence syndrome. (933126)
1976
34
A fetopathological study of female pseudohermaphroditism. Report of four autopsy cases. (1230460)
1975
35
Familial 78XX male pseudohermaphroditism in three dogs. (4855630)
1974
36
Progestin-induced pseudohermaphroditism in the female hamster. (4856832)
1974
37
Genetic disorders affecting genital development in 46,XY individuals (male pseudohermaphroditism). (4556550)
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
Male pseudohermaphroditism with XO chromosomal constitution on bone-marrow cells. (14014313)
1962
42
The testicular feminizing syndrome (a type of male pseudohermaphroditism). Report of a case. (13864835)
1962
43
Female non-adrenal pseudohermaphroditism. (13605771)
1958
44
Psychologic studies before and after clitoridectomy in female pseudohermaphroditism caused by congenital virilizing adrenal hyperplasia. (13542129)
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
Female pseudohermaphroditism; report of a case proved roentgenologically. (13050861)
1953
48
The hereditary occurrence of testes and absence of sexual hair in amenorrheic women: a type of pseudohermaphroditism. (14917732)
1952
49
Male pseudohermaphroditism proved by surgical exploration and microscopic examination; a case report with speculations concerning pathogenesis. (18863968)
1948
50
Adrenal tumours and pseudohermaphroditism; a hormone study of cases. (20266369)
1947

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057838.3CYP17A1, CYP19A1, HSD17B3, HSD3B2
2endoplasmic reticulum membraneGO:00057898.2CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1phthalate metabolic processGO:001896310.2CYP17A1, SRD5A2
2biphenyl metabolic processGO:001887910.2CYP17A1, SRD5A2
3dibenzo-p-dioxin metabolic processGO:001889410.2CYP17A1, SRD5A2
4cellular response to gonadotropin stimulusGO:007137110.2CYP17A1, LHCGR
5prostate gland growthGO:006073610.0AR, CYP19A1
6Leydig cell differentiationGO:003332710.0AR, CYP17A1
7response to nutrient levelsGO:003166710.0CYP17A1, SRD5A2
8glucocorticoid biosynthetic processGO:000670410.0CYP17A1, HSD3B2
9male genitalia developmentGO:00305399.9HSD17B3, LHCGR, SRD5A2
10androgen metabolic processGO:00082099.9CYP19A1, SRD5A2
11hippocampus developmentGO:00217669.9CYP17A1, SRD5A2
12sterol metabolic processGO:00161259.8CYP17A1, CYP19A1
13Mullerian duct regressionGO:00018809.8AMH, AMHR2
14response to steroid hormoneGO:00485459.7CYP17A1, SRD5A2
15androgen biosynthetic processGO:00067029.4CYP17A1, HSD17B3, HSD3B2, SRD5A2
16cell-cell signalingGO:00072679.3AMH, AR, SRD5A2
17male gonad developmentGO:00085849.1AMHR2, AR, LHCGR, SRD5A2
18steroid biosynthetic processGO:00066949.0CYP17A1, CYP19A1, HSD3B2, SRD5A2
19response to drugGO:00424938.6AMH, CYP17A1, SRD5A2
20sex differentiationGO:00075488.5AMH, AMHR2, AR, CYP17A1
21oxidation-reduction processGO:00551148.3CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2

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

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:00198259.4CYP17A1, CYP19A1

Sources for Pseudohermaphroditism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet