MCID: PRS068
MIFTS: 35

Persistent Mullerian Duct Syndrome, Type Ii malady

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

Aliases & Classifications for Persistent Mullerian Duct Syndrome, Type Ii

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

Name: Persistent Mullerian Duct Syndrome, Type Ii 49
Persistent Mullerian Duct Syndrome, Type I 49 11 22
Female Genital Ducts in Otherwise Normal Male 22
Persistent Muellerian Duct Syndrome Type Ii 67
Persistent Mullerian Duct Syndrome Type Ii 22
Persistent Muellerian Duct Syndrome Type I 67
Persistent Muellerian Duct Syndrome 1 67
Persistent Muellerian Duct Syndrome 2 67
 
Pseudohermaphroditism, Male Internal 22
Persistent Oviduct Syndrome 22
Hernia Uteri Inguinale 22
Pmds, Type I 22
Pmds-1 67
Pmds-2 67
Pmds1 67
Pmds2 67

Characteristics:

HPO:

61
persistent mullerian duct syndrome, type ii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 261550
MedGen34 C1849930

Summaries for Persistent Mullerian Duct Syndrome, Type Ii

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OMIM:49 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 inguinal hernia, and has symptoms including cryptorchidism, abnormality of male internal genitalia 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 Adipogenesis and Cell cycle Role of SCF complex in cell cycle regulation. Affiliated tissues include uterus, and related mouse phenotype tumorigenesis.

UniProtKB/Swiss-Prot:67 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
1persistent mullerian duct syndrome10.0
2inguinal hernia10.0
346 xx gonadal dysgenesis9.4AMH, AMHR2
4short qt syndrome9.4AMH, AMHR2
5hypogonadism9.3AMH, AMHR2
6leukorrhea9.2AMH, AMHR2
7diabetes 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

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

(show all 8)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 abnormality of male internal genitalia hallmark (90%) HP:0000022
3 inguinal hernia 80% HP:0000023
4 male infertility common (75%) HP:0003251
5 hernia of the abdominal wall typical (50%) HP:0004299
6 abnormality of circulating hormone level typical (50%) HP:0003117
7 male pseudohermaphroditism typical (50%) HP:0000037
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 Ii22 AMHR2
2 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6AMH, 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:

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.1AMH, MIF
2
Show member pathways
9.1AMH, MIF
3
Show member pathways
9.1AMH, MIF
4
Show member pathways
9.1AMH, MIF
59.1AMH, MIF
69.1AMH, MIF
7
Show member pathways
9.1AMH, MIF
89.1AMH, MIF
9
Show member pathways
9.0AMH, AMHR2
109.0AMH, AMHR2
11
Show member pathways
8.5AMH, AMHR2, MIF

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
1sex differentiationGO:00075489.0AMH, AMHR2

Sources for Persistent Mullerian Duct Syndrome, Type Ii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet