Details of Disease

General Information of Disease (ID: DIS14FE5)

Disease Name Pseudohermaphroditism
Synonyms indeterminate sex and pseudohermaphroditism
Definition A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.
Disease Hierarchy
:
DIS14FE5: Pseudohermaphroditism
Disease Identifiers
MONDO ID
MONDO_0005518
MESH ID
D012734
UMLS CUI
C0033804
MedGen ID
10991
SNOMED CT ID
75164001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AKR1C3 TT5ZWB6 Limited Biomarker [1]
AMHR2 TTZDCPK Strong Genetic Variation [2]
LHCGR TT2O4W9 Strong Biomarker [3]
RSPO1 TTI9HL4 Strong Biomarker [4]
SRD5A2 TTT02K8 Strong Genetic Variation [5]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
AKR1C1 DE7P2FB Limited Biomarker [1]
AKR1C2 DEOY5ZM Limited Biomarker [1]
HSD17B3 DEX8J7E Strong Biomarker [6]
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References

1 The aldo-keto reductases (AKRs): Overview.Chem Biol Interact. 2015 Jun 5;234:236-46. doi: 10.1016/j.cbi.2014.09.024. Epub 2014 Oct 7.
2 Synergistic cooperation between the beta-catenin signaling pathway and steroidogenic factor 1 in the activation of the Mullerian inhibiting substance type II receptor.J Biol Chem. 2003 Jul 18;278(29):26511-6. doi: 10.1074/jbc.M300804200. Epub 2003 Apr 30.
3 Proposed role for COUP-TFII in regulating fetal Leydig cell steroidogenesis, perturbation of which leads to masculinization disorders in rodents.PLoS One. 2012;7(5):e37064. doi: 10.1371/journal.pone.0037064. Epub 2012 May 17.
4 R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling.Hum Mol Genet. 2008 May 1;17(9):1278-91. doi: 10.1093/hmg/ddn036. Epub 2008 Feb 4.
5 Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.Asian J Androl. 2008 Sep;10(5):815-8. doi: 10.1111/j.1745-7262.2008.00350.x. Epub 2007 Dec 20.
6 17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal. Gynecol Endocrinol. 2006 Sep;22(9):488-94.