MCID: PRS068
MIFTS: 34

Persistent Mullerian Duct Syndrome, Type Ii 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:
50OMIM, 23GeneTests, 12diseasecard, 52Orphanet, 68UniProtKB/Swiss-Prot, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Persistent Mullerian Duct Syndrome, Type Ii 50
Persistent Mullerian Duct Syndrome, Type I 50 23 12
Persistent Mullerian Duct Syndrome, Types I and Ii 50
Female Genital Ducts in Otherwise Normal Male 23
Persistent Muellerian Duct Syndrome Type Ii 68
Persistent Mullerian Duct Syndrome Type Ii 23
Persistent Muellerian Duct Syndrome Type I 68
Persistent Muellerian Duct Syndrome 2 68
Persistent Muellerian Duct Syndrome 1 68
Pseudohermaphroditism, Male Internal 23
 
Persistent Müllerian Duct Syndrome 52
Persistent Müllerian Derivatives 52
Persistent Oviduct Syndrome 23
Hernia Uteri Inguinale 23
Pmds, Type I 23
Pmds-1 68
Pmds-2 68
Pmds2 68
Pmds1 68
Pmds 52

Characteristics:

Orphanet epidemiological data:

52
persistent müllerian duct syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

HPO:

62
persistent mullerian duct syndrome, type ii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 261550
Orphanet52 ORPHA2856
ICD10 via Orphanet29 Q55.8
MESH via Orphanet38 C536665
UMLS via Orphanet67 C1849930
MedGen35 C1849930

Summaries for Persistent Mullerian Duct Syndrome, Type Ii

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OMIM:50 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 abnormality of male internal genitalia, cryptorchidism and inguinal hernia. 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 ALK2 signaling events and TGF-beta signaling pathway (KEGG). Affiliated tissues include uterus, and related mouse phenotype neoplasm.

UniProtKB/Swiss-Prot:68 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 disease11.8
2persistent mullerian duct syndrome10.0
3inguinal hernia10.0
4gaucher's disease9.4AMH, AMHR2
5multiple synostoses syndrome9.4AMH, AMHR2
6pleural empyema9.3AMH, AMHR2
7vaginal discharge9.1AMH, AMHR2
8diabetes insipidus, nephrogenic9.0AMH, AMHR2, 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

Symptoms:

 52
  • inguinal hernia
  • cryptorchidism
  • male pseudohermaphroditism

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

(show all 8)
id Description Frequency HPO Source Accession
1 abnormality of male internal genitalia hallmark (90%) HP:0000022
2 cryptorchidism hallmark (90%) HP:0000028
3 inguinal hernia 80% HP:0000023
4 male infertility common (75%) HP:0003251
5 male pseudohermaphroditism typical (50%) HP:0000037
6 abnormality of circulating hormone level typical (50%) HP:0003117
7 hernia of the abdominal wall typical (50%) HP:0004299
8 bilateral cryptorchidism 20% HP:0008689

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome, Type Ii

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Interventional clinical trials:

Search ClinicalTrials, 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 Ii23 AMHR2
2 Persistent Mullerian Duct Syndrome, Type I23 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5AMH, AMHR2, MIF

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:

68 (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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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
1Mullerian duct regressionGO:00018809.3AMH, AMHR2
2sex differentiationGO:00075489.0AMH, AMHR2

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

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

Sources for Persistent Mullerian Duct Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet