Details of Disease | DrugMAP

General Information of Disease (ID: DISJ491E)

Disease Name	Persistent Mullerian duct syndrome
Synonyms	persistent Mllerian duct syndrome; hernia uteri inguinale; persistent MULLERIAN duct syndrome, types I and II; pseudohermaphroditism, Male internal; female genital ducts in otherwise normal male; persistent oviduct syndrome; female genital ducts in otherwise normal Male; persistent mullerian duct syndrome, types 1 and 2; persistent mullerian duct syndrome, type II; persistent Muellerian duct syndrome; persistent Mllerian derivatives; persistent mullerian duct syndrome, type I; persistent Mullerian duct syndrome; persistent Mullerian derivatives; PMDS
Definition	Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Mllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
Disease Hierarchy	DIS14FE5: Pseudohermaphroditism DISJ491E: Persistent Mullerian duct syndrome
Disease Identifiers	MONDO ID MONDO_0009857 MESH ID C536665 UMLS CUI C1849930 OMIM ID 261550 MedGen ID 342367 Orphanet ID 2856 SNOMED CT ID 702358005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AMHR2	TTZDCPK	Strong	Genetic Variation	[1]
CLK1	TTE6YDG	Strong	Biomarker	[2]
AMHR2	TTZDCPK	Definitive	Autosomal recessive	[3]
CLK2	TT85TPS	Definitive	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMH	OT5FH4BD	Strong	Autosomal recessive	[4]
AMHR2	OT95APPM	Definitive	Autosomal recessive	[3]
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References

1	A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Mllerian Duct Syndrome.Sex Dev. 2019;13(2):87-91. doi: 10.1159/000499324. Epub 2019 Apr 2.
2	X-ray Structures and Feasibility Assessment of CLK2 Inhibitors for Phelan-McDermid Syndrome.ChemMedChem. 2018 Sep 19;13(18):1997-2007. doi: 10.1002/cmdc.201800344. Epub 2018 Aug 16.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
4	Variants of the anti-Mllerian hormone gene in a compound heterozygote with the persistent Mllerian duct syndrome and his family. Hum Genet. 1992 Dec;90(4):389-94. doi: 10.1007/BF00220465.