MCID: PRS067
MIFTS: 25

Persistent Mullerian Duct Syndrome, Type I malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Fetal diseases categories

Summaries for Persistent Mullerian Duct Syndrome, Type I

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MalaCards based summary: Persistent Mullerian Duct Syndrome, Type I is related to persistent mullerian duct syndrome and mixed gonadal dysgenesis. An important gene associated with Persistent Mullerian Duct Syndrome, Type I is MIF (macrophage migration inhibitory factor (glycosylation-inhibiting factor)), and among its related pathways are ALK2 signaling events and TGF-beta Signaling Pathway. The compounds 4-ipp and git 27 have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and tumorigenesis.

Description from OMIM:46 261550

Aliases & Classifications for Persistent Mullerian Duct Syndrome, Type I

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Persistent Mullerian Duct Syndrome, Type I, Aliases & Descriptions:

Name: Persistent Mullerian Duct Syndrome, Type I 21 46


Classifications:



Related Diseases for Persistent Mullerian Duct Syndrome, Type I

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Diseases in the Persistent Mullerian Duct Syndrome, Type Ii family:

Persistent Mullerian Duct Syndrome persistent mullerian duct syndrome, type i

Diseases related to Persistent Mullerian Duct Syndrome, Type I via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1persistent mullerian duct syndrome30.5AMHR2, AMH
2mixed gonadal dysgenesis10.2AMHR2
3ovarian cancer10.0AMHR2, MIF
4pseudohermaphroditism9.9AMHR2, AMH
5infertility9.7AMH, MIF

Graphical network of diseases related to Persistent Mullerian Duct Syndrome, Type I:



Diseases related to persistent mullerian duct syndrome, type i

Symptoms for Persistent Mullerian Duct Syndrome, Type I

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Clinical features from OMIM:

261550

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome, Type I

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Drug clinical trials:

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Genetic Tests for Persistent Mullerian Duct Syndrome, Type I

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Genetic tests related to Persistent Mullerian Duct Syndrome, Type I:

id Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome, Type I21 AMH

Anatomical Context for Persistent Mullerian Duct Syndrome, Type I

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Animal Models for Persistent Mullerian Duct Syndrome, Type I or affiliated genes

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MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome, Type I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.5MIF, AMH, AMHR2
2MP:00020068.2MIF, AMH, AMHR2

Publications for Persistent Mullerian Duct Syndrome, Type I

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Articles related to Persistent Mullerian Duct Syndrome, Type I:

idTitleAuthorsYear
1
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011

Variations for Persistent Mullerian Duct Syndrome, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Persistent Mullerian Duct Syndrome, Type I:

63 (show all 17)
id Symbol AA change Variation ID SNP ID
1AMHp.Val12GlyVAR_007483rs149082963
2AMHp.Leu70ProVAR_007485
3AMHp.Gly101ValVAR_007486
4AMHp.Arg123TrpVAR_007487
5AMHp.Tyr167CysVAR_007488
6AMHp.Arg194CysVAR_007490
7AMHp.Val477AlaVAR_007492
8AMHp.His506GlnVAR_031027
9AMHp.Cys525TyrVAR_031028
10AMHR2p.Arg54CysVAR_015525
11AMHR2p.Gly142ValVAR_015526
12AMHR2p.His282GlnVAR_015527
13AMHR2p.Arg406GlnVAR_015528
14AMHR2p.Asp426GlyVAR_015529
15AMHR2p.Val458AlaVAR_015530
16AMHR2p.Asp491HisVAR_015531
17AMHR2p.Arg504CysVAR_015532

Expression for genes affiliated with Persistent Mullerian Duct Syndrome, Type I

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Expression patterns in normal tissues for genes affiliated with Persistent Mullerian Duct Syndrome, Type I

Search GEO for disease gene expression data for Persistent Mullerian Duct Syndrome, Type I.

Pathways for genes affiliated with Persistent Mullerian Duct Syndrome, Type I

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Compounds for genes affiliated with Persistent Mullerian Duct Syndrome, Type I

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Compounds related to Persistent Mullerian Duct Syndrome, Type I according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
14-ipp609.2AMH, MIF
2git 27609.2AMH, MIF
3pirfenidone44 6010.1AMH, MIF
4as 10144 6010.1AMH, MIF
5thalidomide44 50 60 1212.0MIF, AMH
6zinc44 2510.0AMH, MIF
7estradiol44 25 1210.9AMH, MIF
8testosterone44 60 25 1211.8AMHR2, AMH

GO Terms for genes affiliated with Persistent Mullerian Duct Syndrome, Type I

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Biological processes related to Persistent Mullerian Duct Syndrome, Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sex differentiationGO:0075489.1AMH, AMHR2
2Mullerian duct regressionGO:0018808.8AMH, AMHR2

Molecular functions related to Persistent Mullerian Duct Syndrome, Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.0MIF, AMH

Products for genes affiliated with Persistent Mullerian Duct Syndrome, Type I

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Sources for Persistent Mullerian Duct Syndrome, Type I

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet