MCID: PRS068
MIFTS: 36

Persistent Mullerian Duct Syndrome, Type Ii malady

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

Summaries for Persistent Mullerian Duct Syndrome, Type Ii

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OMIM:47 The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes,... (261550) more...

MalaCards based summary: Persistent Mullerian Duct Syndrome, Type Ii, also known as persistent mullerian duct syndrome, type i, is related to persistent mullerian duct syndrome and mixed gonadal dysgenesis, and has symptoms including abnormality of male internal genitalia, inguinal hernia and male infertility. An important gene associated with Persistent Mullerian Duct Syndrome, Type Ii is AMHR2 (anti-Mullerian hormone receptor, type II), and among its related pathways are ALK2 signaling events and TGF-beta Signaling Pathway. The compounds git 27 and 4-ipp have been mentioned in the context of this disorder. Affiliated tissues include uterus, and related mouse phenotypes are homeostasis/metabolism and tumorigenesis.

Aliases & Classifications for Persistent Mullerian Duct Syndrome, Type Ii

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

Name: Persistent Mullerian Duct Syndrome, Type Ii 47
Persistent Mullerian Duct Syndrome, Type I 47 11 22
 
Persistent Mullerian Duct Syndrome, Types I and Ii 47
Pmds 62


Classifications:



External Ids:

OMIM47 261550

Related Diseases for Persistent Mullerian Duct Syndrome, Type Ii

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Diseases in the Persistent Mullerian Duct Syndrome family:

persistent mullerian duct syndrome, type ii

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

idRelated DiseaseScoreTop Affiliating Genes
1persistent mullerian duct syndrome30.6AMHR2, AMH
2mixed gonadal dysgenesis10.0AMHR2
3pseudohermaphroditism10.0AMHR2, AMH
4ovarian cancer, somatic10.0AMHR2, MIF
5infertility10.0AMH, MIF

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



Diseases related to persistent mullerian duct syndrome, type ii

Symptoms for Persistent Mullerian Duct Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

261550

Clinical features from OMIM:

261550

HPO human phenotypes related to Persistent Mullerian Duct Syndrome, Type Ii:

(show all 6)
id Description Frequency HPO Source Accession
1 abnormality of male internal genitalia hallmark (90%) HP:0000022
2 inguinal hernia 80% HP:0000023
3 male infertility common (75%) HP:0003251
4 abnormality of circulating hormone level typical (50%) HP:0003117
5 bilateral cryptorchidism 20% HP:0008689
6 autosomal recessive inheritance HP:0000007

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome, Type Ii

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Drug clinical trials:

Search ClinicalTrials for Persistent Mullerian Duct Syndrome, Type Ii

Search NIH Clinical Center for Persistent Mullerian Duct Syndrome, Type Ii

Genetic Tests for Persistent Mullerian Duct Syndrome, Type Ii

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

id Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome, Type I22 AMH

Anatomical Context for Persistent Mullerian Duct Syndrome, Type Ii

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome, Type Ii:

33
Uterus

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

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.5MIF, AMH, AMHR2
2MP:00020068.2MIF, AMH, AMHR2

Publications for Persistent Mullerian Duct Syndrome, Type Ii

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Variations for Persistent Mullerian Duct Syndrome, Type Ii

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

64 (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 Ii

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

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

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

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

idCompoundScoreTop Affiliating Genes
1git 27619.3MIF, AMH
24-ipp619.3MIF, AMH
3pirfenidone45 6110.2MIF, AMH
4as 10145 6110.2MIF, AMH
5thalidomide45 51 61 1312.1AMH, MIF
6zinc45 2610.1MIF, AMH
7estradiol45 26 1311.0MIF, AMH
8testosterone45 61 26 1312.0AMH, AMHR2

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

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

idNameGO IDScoreTop Affiliating Genes
1sex differentiationGO:00075489.3AMH, AMHR2
2Mullerian duct regressionGO:00018809.0AMH, AMHR2

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

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051029.1MIF, AMH

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Persistent Mullerian Duct Syndrome, Type Ii

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet