MCID: PSD009
MIFTS: 41

Pseudohermaphroditism malady

Categories: Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pseudohermaphroditism

About this section

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

About this section
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 ovarian hyperstimulation syndrome. 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 ovary, testis and lung, and related mouse phenotypes are renal/urinary system and endocrine/exocrine gland.

Related Diseases for Pseudohermaphroditism

About this section

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

(show top 50)    (show all 401)
idRelated DiseaseScoreTop Affiliating Genes
1meacham syndrome30.0AMH, WT1
2ovarian hyperstimulation syndrome29.4AMH, CYP19A1
3prostate cancer28.9AR, CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2
4microcephaly28.3AR, CYP17A1, HSD17B3, HSD3B2, LHCGR, SRD5A2
5hypogonadism27.8AMH, AMHR2, AR, CYP17A1, CYP19A1, HSD17B3
6male pseudohermaphroditism intellectual disability syndrome, verloes type12.5
7leydig cell hypoplasia with pseudohermaphroditism12.4
8pseudohermaphroditism, male, with gynecomastia12.4
9male pseudohermaphroditism due to defective lh molecule12.2
10denys-drash syndrome11.9
11aromatase deficiency11.8
12pseudovaginal perineoscrotal hypospadias11.7
1346xy sex reversal 811.7
14leydig cells hypoplasia11.7
1546,xy disorder of sex development due to 5-alpha-reductase 2 deficiency11.6
16lipoid adrenal hyperplasia11.6
17persistent mullerian duct syndrome, type ii11.6
185-alpha reductase deficiency11.5
1946,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency11.2
20chondrodysplasia-disorder of sex development syndrome11.2
21dysmorphism-short stature-deafness-disorder of sex development syndrome11.2
2246,xx disorder of sex development-anorectal anomalies syndrome11.2
2346,xx disorder of sex development-skeletal anomalies syndrome11.2
24frasier syndrome10.4
25persistent mullerian duct syndrome10.4
2646,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency syndrome10.4
2746,xy gonadal dysgenesis-motor and sensory neuropathy syndrome10.4
2846,xy partial gonadal dysgenesis10.4
29leydig cell hypoplasia due to lhb deficiency10.4
30leydig cell hypoplasia due to partial lh resistance10.4
31leydig cell hypoplasia due to complete lh resistance10.4
32breast cancer10.3
33leukemia10.3
34pseudohermaphroditism10.3AR, SRD5A2
35androgen insensitivity10.3
36mediastinal cancer10.3AR, LHCGR
37tethered cord syndrome10.2CYP19A1, LHCGR
38renal adenoma10.2CYP17A1, LHCGR
39hermaphroditism10.2
4046,xx ovotesticular disorder of sex development10.2
41palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome10.2
42richter's syndrome10.2CYP17A1, HSD3B2
43arthritis10.2
44hepatitis10.2
45cerebritis10.2
46neuropathy10.2
47suppurative thyroiditis10.2CYP19A1, LHCGR
48craniofrontonasal dysplasia10.2AR, CYP19A1
49retroperitoneal sarcoma10.2AR, CYP19A1
50complete atrioventricular canal10.2AR, CYP19A1

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to pseudohermaphroditism

Symptoms for Pseudohermaphroditism

About this section

Drugs & Therapeutics for Pseudohermaphroditism

About this section

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

About this section

Anatomical Context for Pseudohermaphroditism

About this section

MalaCards organs/tissues related to Pseudohermaphroditism:

33
Ovary, Testis, Lung, T cells, Endothelial, Liver, Brain

Animal Models for Pseudohermaphroditism or affiliated genes

About this section

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

About this section

Articles related to Pseudohermaphroditism:

(show top 50)    (show all 481)
idTitleAuthorsYear
1
Second microvascular decompression for trigeminal neuralgia in recurrent cases after microvascular decompression. (25759921)
2015
2
Impact of colonic mucosal lipoxin A4 synthesis capacity on healing in rats with dextran sodium sulfate-induced colitis. (25908303)
2015
3
Decreased plasma adiponectin is associated with impaired left ventricular longitudinal systolic function in hypertensive patients: a two-dimensional speckle tracking study. (23772851)
2014
4
Acute graft pyelonephritis during the first year after renal transplantation. (25380907)
2014
5
Compound clear cell sarcoma misdiagnosed as a Spitz nevus. (23980901)
2013
6
Outcomes of rescue therapy in acute severe ulcerative colitis: data from the United Kingdom inflammatory bowel disease audit. (24004000)
2013
7
Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease. (22735241)
2012
8
Hepatic deletion of SIRT1 decreases hepatocyte nuclear factor 1I+/farnesoid X receptor signaling and induces formation of cholesterol gallstones in mice. (22290433)
2012
9
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85I+ subunit of PI3K. (22351933)
2012
10
Association between intrapartum fetal heart rate patterns and neonatal abstinence syndrome in methadone exposed neonates. (21142769)
2011
11
Kidins220/ARMS regulates Rac1-dependent neurite outgrowth by direct interaction with the RhoGEF Trio. (20519585)
2010
12
Branch retinal artery occlusion after septoplasty. (21117572)
2010
13
Nitric oxide increases cyclic GMP levels, AMP-activated protein kinase (AMPK)alpha1-specific activity and glucose transport in human skeletal muscle. (20349036)
2010
14
In vitro fertilization pregnancy in a patient with proven chronic endometritis. (19159871)
2009
15
Therapeutic effect of montelukast, a cysteinyl leukotriene receptor 1 antagonist, on Japanese patients with seasonal allergic rhinitis. (18566548)
2008
16
Elucidation, quantitative refinement, and in vivo utilization of the HOXA13 DNA binding site. (17200107)
2007
17
Role of the low amplitude potential in the initial P wave signal-averaged electrocardiogram [corrected] in sick sinus syndrome. (16864929)
2006
18
B lymphocytes on the front line of autoimmunity. (16483922)
2006
19
Most DC-SIGNR transcripts at mucosal HIV transmission sites are alternatively spliced isoforms. (15812562)
2005
20
Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier. (16221851)
2005
21
The vulnerable faces of pathological gambling. (21179650)
2005
22
Dissection of the GTPase mechanism of Ras protein by MD analysis of Ras mutants. (15789417)
2005
23
Pigment epithelium-derived factor is a pericyte mitogen secreted by microvascular endothelial cells: possible participation of angiotensin II-elicited PEDF downregulation in diabetic retinopathy. (16440585)
2005
24
FAK and PYK2 interact with SAP90/PSD-95-Associated Protein-3. (16202977)
2005
25
Optimized diagnosis of acute dengue fever in Swedish travelers by a combination of reverse transcription-PCR and immunoglobulin M detection. (15956408)
2005
26
A novel partner for D-type cyclins: protein kinase A-anchoring protein AKAP95. (14641107)
2004
27
Pauci-immune crescentic glomerulonephritis. (15025274)
2003
28
Detection of serum levels of MMP-9 and VEGF in patients with bladder cancer]. (12895351)
2003
29
Co-translational folding of caspase-activated DNase with Hsp70, Hsp40, and inhibitor of caspase-activated DNase. (11724800)
2002
30
Trends in genomic analysis of the cardiovascular system. (11860305)
2002
31
Smoking impairs bradykinin-stimulated t-PA release. (11897760)
2002
32
Cytogenetic effects of propyl gallate in CHO-K1 cells. (11673077)
2001
33
Arsenic trioxide and the growth of human T-cell leukemia virus type I infected T-cell lines. (11042529)
2000
34
Coordinated expression of beta-amyloid precursor protein and the putative beta-secretase BACE and alpha-secretase ADAM10 in mouse and human brain. (11032903)
2000
35
K-ras oncogene subtype mutations are associated with survival but not expression of p53, p16(INK4A), p21(WAF-1), cyclin D1, erbB-2 and erbB-3 in resected pancreatic ductal adenocarcinoma. (11102889)
2000
36
Identification of the endoplasmic reticulum targeting signal in vesicle-associated membrane proteins. (10601239)
1999
37
Human angiostatin inhibits murine hemangioendothelioma tumor growth in vivo. (9393749)
1997
38
Foodborne listeriosis. (9282388)
1997
39
Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia. (9385961)
1997
40
Pulmonary and ovarian manifestations of systemic mastocytosis. (8610583)
1996
41
Molecular cloning and functional characterization of a mouse bradykinin B1 receptor gene. (8602848)
1996
42
Topical treatment of pityriasis rubra pilaris with calcipotriol. (7515639)
1994
43
Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease). (1453434)
1992
44
Horner's syndrome and trigeminal nerve palsy following epidural anaesthesia for obstetrics. (1914062)
1991
45
Does hypophosphatemia play a role in acute liver failure? (2921001)
1989
46
Weaver syndrome with pes cavus. (4025398)
1985
47
Internuclear ophthalmoplegia in patients with toxic coma frequency, prognostic value, diagnostic significance. (6655778)
1983
48
Impaired neutrophil kinesis in a patient with the Shwachman-Diamond syndrome. (687246)
1978
49
Experimental induction of uterine cervical and vaginal cancer in mice. (13629482)
1959
50
Seasonable Influences in Erysipelas, with Statistics. (21409070)
1895

Variations for Pseudohermaphroditism

About this section

Expression for genes affiliated with Pseudohermaphroditism

About this section
Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for genes affiliated with Pseudohermaphroditism

About this section

GO Terms for genes affiliated with Pseudohermaphroditism

About this section

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

About this section
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