PMDS1
MCID: PRS068
MIFTS: 32

Persistent Mullerian Duct Syndrome, Type Ii (PMDS1) malady

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Persistent Mullerian Duct Syndrome, Type Ii

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Sources:
12diseasecard, 24GeneTests, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Persistent Mullerian Duct Syndrome, Type Ii:

Name: Persistent Mullerian Duct Syndrome, Type Ii 52
Persistent Mullerian Duct Syndrome, Type I 52 24 12
Persistent Mullerian Duct Syndrome, Types I and Ii 52
Female Genital Ducts in Otherwise Normal Male 24
Persistent Muellerian Duct Syndrome Type Ii 70
Persistent Muellerian Duct Syndrome Type I 70
Persistent Mullerian Duct Syndrome Type Ii 24
Persistent Muellerian Duct Syndrome 2 70
Persistent Muellerian Duct Syndrome 1 70
Pseudohermaphroditism, Male Internal 24
 
Persistent Müllerian Duct Syndrome 54
Persistent Müllerian Derivatives 54
Persistent Oviduct Syndrome 24
Hernia Uteri Inguinale 24
Pmds, Type I 24
Pmds-1 70
Pmds-2 70
Pmds1 70
Pmds2 70
Pmds 54

Characteristics:

Orphanet epidemiological data:

54
persistent müllerian duct syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

HPO:

64
persistent mullerian duct syndrome, type ii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 261550
Orphanet54 ORPHA2856
UMLS via Orphanet69 C1849930
ICD10 via Orphanet31 Q55.8
MESH via Orphanet40 C536665
MedGen37 C1849930

Summaries for Persistent Mullerian Duct Syndrome, Type Ii

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OMIM:52 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 pelizaeus-merzbacher disease and persistent mullerian duct syndrome, and has symptoms including Array, Array and Array. An important gene associated with Persistent Mullerian Duct Syndrome, Type Ii is AMHR2 (Anti-Mullerian Hormone Receptor Type 2), and among its related pathways are TGF-beta signaling pathway (KEGG) and ALK2 signaling events. Affiliated tissues include uterus, and related mouse phenotype neoplasm.

UniProtKB/Swiss-Prot:70 Persistent Muellerian duct syndrome 1: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pelizaeus-merzbacher disease12.0
2persistent mullerian duct syndrome9.9
3inguinal hernia9.9
4palmoplantar keratoderma, bothnian type9.8AMH, AMHR2
5third ventricle chordoid glioma9.8AMH, AMHR2
6cone dystrophy9.8AMH, AMHR2
7sphingolipidosis9.7AMH, AMHR2

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



Diseases related to persistent mullerian duct syndrome, type ii

Symptoms & Phenotypes for Persistent Mullerian Duct Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

261550

Clinical features from OMIM:

261550

Human phenotypes related to Persistent Mullerian Duct Syndrome, Type Ii:

 54 64 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia64 54 Frequent (79-30%) HP:0000023
2 cryptorchidism54 Very frequent (99-80%)
3 male pseudohermaphroditism54 Frequent (79-30%)
4 abnormality of male internal genitalia64 HP:0000022
5 abnormality of circulating hormone level64 HP:0003117
6 male infertility64 HP:0003251
7 bilateral cryptorchidism64 HP:0008689

MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome, Type Ii according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1AMH, AMHR2

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome, Type Ii

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Drugs for Persistent Mullerian Duct Syndrome, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones14415

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluating the AMH Levels During Natural CycleNot yet recruitingNCT03106272

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 Ii24 AMHR2
2 Persistent Mullerian Duct Syndrome, Type I24 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:

36
Uterus

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:

70 (show all 17)
id Symbol AA change Variation ID SNP ID
1AMHp.Val12GlyVAR_007483rs149082963
2AMHp.Leu70ProVAR_007485
3AMHp.Gly101ValVAR_007486
4AMHp.Arg123TrpVAR_007487rs569914235
5AMHp.Tyr167CysVAR_007488rs371874189
6AMHp.Arg194CysVAR_007490rs777003373
7AMHp.Val477AlaVAR_007492
8AMHp.His506GlnVAR_031027rs138571039
9AMHp.Cys525TyrVAR_031028
10AMHR2p.Arg54CysVAR_015525rs534999427
11AMHR2p.Gly142ValVAR_015526
12AMHR2p.His282GlnVAR_015527rs539695176
13AMHR2p.Arg406GlnVAR_015528rs137853104
14AMHR2p.Asp426GlyVAR_015529
15AMHR2p.Val458AlaVAR_015530rs775889926
16AMHR2p.Asp491HisVAR_015531rs780680518
17AMHR2p.Arg504CysVAR_015532rs772294564

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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Pathways related to Persistent Mullerian Duct Syndrome, Type Ii according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1AMH, AMHR2
29.1AMH, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BMP signaling pathwayGO:00305099.5AMH, AMHR2
2Mullerian duct regressionGO:00018809.5AMH, AMHR2
3sex differentiationGO:00075489.1AMH, AMHR2

Sources for Persistent Mullerian Duct Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet