MCID: PSD009
MIFTS: 40

Pseudohermaphroditism malady

Categories: Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pseudohermaphroditism

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Aliases & Descriptions for Pseudohermaphroditism:

Name: Pseudohermaphroditism 11 50 13
 
Indeterminate Sex and Pseudohermaphroditism 11

Classifications:



External Ids:

Disease Ontology11 DOID:3765
ICD1030 Q56, Q56.3
ICD9CM32 752.7
MeSH39 D012734

Summaries for Pseudohermaphroditism

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Wikipedia:71 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 testes, 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 110)
idRelated DiseaseScoreTop Affiliating Genes
1meacham syndrome30.4AMH, WT1
2hypogonadism28.9AMH, AR, CYP19A1
3mixed gonadal dysgenesis28.5AMH, WT1
4leydig cell hypoplasia with pseudohermaphroditism12.2
5male pseudohermaphroditism/mental retardation syndrome, verloes type11.9
6pseudohermaphroditism, female, with skeletal anomalies11.9
7pseudovaginal perineoscrotal hypospadias11.8
8pseudohermaphroditism, male, with gynecomastia11.8
9chondrodysplasia-pseudohermaphroditism syndrome11.8
10aromatase deficiency11.8
11male pseudohermaphroditism intellectual disability syndrome, verloes type11.8
12male pseudohermaphroditism due to defective lh molecule11.7
13leydig cell hypoplasia11.6
14denys-drash syndrome11.5
155-alpha reductase deficiency11.3
16lipoid adrenal hyperplasia11.3
17persistent mullerian duct syndrome, type ii11.3
1846xy sex reversal 811.2
19androgen insensitivity11.1
20persistent mullerian duct syndrome11.1
2146,xx disorder of sex development-anorectal anomalies syndrome11.1
22frasier syndrome10.9
23aromatase excess syndrome10.7
24dysmorphism-short stature-deafness-disorder of sex development syndrome10.7
25lichen planus pemphigoides10.4HSD17B3, LHCGR
26leukorrhea10.4AR, SRD5A2
27hermaphroditism10.3
28familial tumoral calcinosis10.3CYP19A1, LHCGR
29mediastinal mesenchymal tumor10.3AR, LHCGR
30precocious puberty, male10.3CYP19A1, LHCGR
31riedel's fibrosing thyroiditis10.2CYP19A1, LHCGR
32benign shuddering attacks10.2CYP17A1, HSD3B2
33dystonia-parkinsonism, x-linked10.2AR, CYP19A1
34retroperitoneum carcinoma10.2AR, CYP19A1
35glioblastoma classical subtype10.1AR, CYP19A1
36first-degree atrioventricular block10.1CYP17A1, HSD3B2
37nephrogenic adenofibroma10.1CYP17A1, CYP19A1
38prolapse of lacrimal gland10.1AR, CYP19A1
39ovary neuroendocrine neoplasm10.1AR, LHCGR
40malakoplakia10.1CYP17A1, CYP19A1
41gynecomastia10.1
42epilepsy, idiopathic generalized 1110.0AR, CYP19A1, SRD5A2
43hypospadias 1, x-linked10.0AR, CYP19A1, SRD5A2
44myoclonic cerebellar dyssynergia10.0AR, CYP19A1, HSD17B3
45gonadal dysgenesis10.0
46cerebellar vermis medulloblastoma10.0AR, CYP17A1
47cryptorchidism9.9
48gonadoblastoma9.9
49inguinal hernia9.9
50klinefelter's syndrome9.9CYP19A1, WT1

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to pseudohermaphroditism

Symptoms & Phenotypes for Pseudohermaphroditism

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MGI Mouse Phenotypes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8AMHR2, AR, CYP19A1, LHCGR, WT1
2MP:00053797.7AMH, AMHR2, AR, CYP19A1, LHCGR, SRD5A2
3MP:00053896.5AMH, AMHR2, AR, CYP17A1, CYP19A1, LHCGR

Drugs & Therapeutics for Pseudohermaphroditism

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mutation Analysis of 17╬▓hydroxysteroid Dehydrogenase 3 DeficiencyUnknown statusNCT00173654
2Mutation Analysis of 17╬▒-HydroxylaseUnknown statusNCT00172510

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:

36
Testis, Ovary, Testes, Skin, Kidney, Bone, Uterus

Publications for Pseudohermaphroditism

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Articles related to Pseudohermaphroditism:

(show top 50)    (show all 485)
idTitleAuthorsYear
1
Effects of feminizing reconstructive surgery on sexual function and genital sensitivity in patients with female pseudohermaphroditism versus healthy control. (27172824)
2016
2
Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. (27294221)
2016
3
Idiopathic female pseudohermaphroditism with urethral duplication and female hypospadias. (26965407)
2016
4
Male Pseudohermaphroditism: Ambiguous genitalia. (27617556)
2016
5
Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis. (25599724)
2014
6
Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman. (24498484)
2014
7
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. (23618379)
2013
8
Female pseudohermaphroditism associated with maternal steroid cell tumor, not otherwise specified of the ovary: a case report and literature review. (24597265)
2013
9
Two cases of pseudohermaphroditism in loggerhead sea turtles Caretta caretta. (23999702)
2013
10
Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios. (24411046)
2013
11
A rare adolescent case of female pseudohermaphroditism with adrenocortical carcinoma and synchronous teratoma. (23528907)
2013
12
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. (23450434)
2013
13
Two-step surgery for a unique case of idiopathic female pseudohermaphroditism. Surgical treatment in an exceptional combined uro-genital malformation. (23110911)
2012
14
Male pseudohermaphroditism presented with sudden cardiac arrest. (22477014)
2012
15
Tetralogy of fallot associated with dysplastic kidneys, cloacal anomalies, and female pseudohermaphroditism: a systemic anomaly of septation? (22811944)
2012
16
Male pseudohermaphroditism with mixed germ cell tumor. (21298767)
2011
17
Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. (21255434)
2011
18
Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism. (20056211)
2010
19
Male pseudohermaphroditism as a cause of secondary hypertension: a case report. (20960109)
2010
20
Staged reconstruction of the labia minora and reduction clitoroplasty for female pseudohermaphroditism. (20414773)
2010
21
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. (19268447)
2009
22
Persistent cloaca, fused kidneys, female pseudohermaphroditism and skeletal anomalies in a simmental calf. (19469769)
2009
23
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. (19551906)
2009
24
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. (18097518)
2008
25
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (17509588)
2008
26
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. (18314109)
2008
27
Laparoscopy and intersex: report of 5 cases of male pseudohermaphroditism. (18319558)
2008
28
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. (18433292)
2008
29
A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. (16500352)
2006
30
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. (17128566)
2006
31
Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. (16516639)
2006
32
Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. (16835917)
2006
33
Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. (16600787)
2006
34
Male pseudohermaphroditism in a Labrador Retriever, and a review of mammalian sexual differentiation. (17028664)
2006
35
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. (16098368)
2005
36
Male Pseudohermaphroditism in a raccoon dog (Nyctereutes procynoides). (15997188)
2005
37
Male pseudohermaphroditism. (19810311)
2005
38
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister. (15844475)
2005
39
Idiopathic male pseudohermaphroditism: variations in presentation and management. (16042324)
2005
40
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. (16052861)
2005
41
Enlarged clitoris in wild polar bears (Ursus maritimus) can be misdiagnosed as pseudohermaphroditism. (15626378)
2005
42
Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation. (15711770)
2005
43
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. (16433250)
2005
44
XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx). (17312771)
2005
45
Two cases of spontaneous pseudohermaphroditism in Cynomolgus monkeys (Macaca fascicularis). (15533116)
2004
46
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. (15528927)
2004
47
Linkage mapping of the locus responsible for male pseudohermaphroditism (mp) on rat chromosome 7. (15297712)
2004
48
Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report. (15379426)
2004
49
Male pseudohermaphroditism: long-term quality of life outcome in five 46,XY individuals reared female. (15270399)
2004
50
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. (15064320)
2004

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 reticulum membraneGO:00057898.6CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1biphenyl metabolic processGO:001887910.5CYP17A1, SRD5A2
2dibenzo-p-dioxin metabolic processGO:001889410.5CYP17A1, SRD5A2
3androgen metabolic processGO:000820910.4CYP19A1, SRD5A2
4glucocorticoid biosynthetic processGO:000670410.4CYP17A1, HSD3B2
5phthalate metabolic processGO:001896310.4CYP17A1, SRD5A2
6response to nutrient levelsGO:003166710.3CYP17A1, SRD5A2
7response to steroid hormoneGO:004854510.3CYP17A1, SRD5A2
8adrenal gland developmentGO:003032510.3CYP17A1, WT1
9Leydig cell differentiationGO:003332710.2AR, CYP17A1
10prostate gland growthGO:006073610.0AR, CYP19A1
11cellular response to gonadotropin stimulusGO:00713719.9CYP17A1, LHCGR, WT1
12Mullerian duct regressionGO:00018809.8AMH, AMHR2
13androgen biosynthetic processGO:00067029.8CYP17A1, HSD17B3, HSD3B2, SRD5A2
14male genitalia developmentGO:00305399.7HSD17B3, LHCGR, SRD5A2, WT1
15sex determinationGO:00075309.7AMH, WT1
16sterol metabolic processGO:00161259.6CYP17A1, CYP19A1
17cell-cell signalingGO:00072679.4AMH, AR, SRD5A2
18steroid biosynthetic processGO:00066949.3CYP17A1, CYP19A1, HSD3B2, SRD5A2
19oxidation-reduction processGO:00551149.2CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2
20male gonad developmentGO:00085848.9AMHR2, AR, LHCGR, SRD5A2, WT1
21sex differentiationGO:00075488.6AMH, AMHR2, AR, CYP17A1

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

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:00198259.6CYP17A1, CYP19A1

Sources for Pseudohermaphroditism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet