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

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

Name: Persistent Mullerian Duct Syndrome, Type Ii 54
Persistent Mullerian Duct Syndrome, Type I 54 24 13
Persistent Mullerian Duct Syndrome, Types I and Ii 54
Female Genital Ducts in Otherwise Normal Male 24
Persistent Muellerian Duct Syndrome Type Ii 66
Persistent Mullerian Duct Syndrome Type Ii 24
Persistent Muellerian Duct Syndrome Type I 66
Persistent Muellerian Duct Syndrome 1 66
Persistent Muellerian Duct Syndrome 2 66
Pseudohermaphroditism, Male Internal 24
Persistent Müllerian Duct Syndrome 56
Persistent Müllerian Derivatives 56
Persistent Oviduct Syndrome 24
Hernia Uteri Inguinale 24
Pmds, Type I 24
Pmds-1 66
Pmds-2 66
Pmds1 66
Pmds2 66
Pmds 56

Characteristics:

Orphanet epidemiological data:

56
persistent müllerian duct syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

HPO:

32
persistent mullerian duct syndrome, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 261550
Orphanet 56 ORPHA2856
UMLS via Orphanet 70 C1849930
ICD10 via Orphanet 34 Q55.8
MESH via Orphanet 43 C536665
MedGen 40 C1849930

Summaries for Persistent Mullerian Duct Syndrome, Type Ii

OMIM : 54 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 inguinal hernia, cryptorchidism and male pseudohermaphroditism. An important gene associated with Persistent Mullerian Duct Syndrome, Type Ii is AMHR2 (Anti-Mullerian Hormone Receptor Type 2), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and ALK2 signaling events. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include uterus, and related phenotype is neoplasm.

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 12.0
2 persistent mullerian duct syndrome 9.9
3 inguinal hernia 9.9
4 palmoplantar keratoderma, bothnian type 9.8 AMH AMHR2
5 third ventricle chordoid glioma 9.8 AMH AMHR2
6 cone dystrophy 9.8 AMH AMHR2
7 sphingolipidosis 9.7 AMH AMHR2

Graphical network of the top 20 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

Symptoms by clinical synopsis from OMIM:

261550

Clinical features from OMIM:

261550

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

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
2 cryptorchidism 56 Very frequent (99-80%)
3 male pseudohermaphroditism 56 Frequent (79-30%)
4 male infertility 32 HP:0003251
5 bilateral cryptorchidism 32 HP:0008689
6 abnormality of male internal genitalia 32 HP:0000022
7 abnormality of circulating hormone level 32 HP:0003117

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 AMH AMHR2

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome, Type Ii

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase
1 Evaluating the AMH Levels During Natural Cycle Not yet recruiting NCT03106272

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

Genetic Tests for Persistent Mullerian Duct Syndrome, Type Ii

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

id Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome Type Ii 24 AMHR2
2 Persistent Mullerian Duct Syndrome, Type I 24 AMH

Anatomical Context for Persistent Mullerian Duct Syndrome, Type Ii

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

39
Uterus

Publications for Persistent Mullerian Duct Syndrome, Type Ii

Variations for Persistent Mullerian Duct Syndrome, Type Ii

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

66 (show all 17)
id Symbol AA change Variation ID SNP ID
1 AMH p.Val12Gly VAR_007483 rs149082963
2 AMH p.Leu70Pro VAR_007485
3 AMH p.Gly101Val VAR_007486
4 AMH p.Arg123Trp VAR_007487 rs569914235
5 AMH p.Tyr167Cys VAR_007488 rs371874189
6 AMH p.Arg194Cys VAR_007490 rs777003373
7 AMH p.Val477Ala VAR_007492
8 AMH p.His506Gln VAR_031027 rs138571039
9 AMH p.Cys525Tyr VAR_031028
10 AMHR2 p.Arg54Cys VAR_015525 rs534999427
11 AMHR2 p.Gly142Val VAR_015526
12 AMHR2 p.His282Gln VAR_015527 rs539695176
13 AMHR2 p.Arg406Gln VAR_015528 rs137853104
14 AMHR2 p.Asp426Gly VAR_015529
15 AMHR2 p.Val458Ala VAR_015530 rs775889926
16 AMHR2 p.Asp491His VAR_015531 rs780680518
17 AMHR2 p.Arg504Cys VAR_015532 rs772294564

ClinVar genetic disease variations for Persistent Mullerian Duct Syndrome, Type Ii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AMH NM_000479.4(AMH): c.1144G> T (p.Glu382Ter) single nucleotide variant Pathogenic rs267606654 GRCh37 Chromosome 19, 2251417: 2251417
2 AMH AMH, 14-BP DEL, EX2 deletion Pathogenic
3 AMH NM_000479.4(AMH): c.571C> T (p.Arg191Ter) single nucleotide variant Pathogenic rs104894666 GRCh37 Chromosome 19, 2250666: 2250666
4 AMH NM_000479.4(AMH): c.1397_1419dup23 (p.Glu474Serfs) duplication Pathogenic rs397518444 GRCh37 Chromosome 19, 2251670: 2251692
5 AMHR2 AMHR2, IVS2DS, G-T, +1 single nucleotide variant Pathogenic
6 AMHR2 AMHR2, 27-BP DEL, NT6331 deletion Pathogenic
7 AMHR2 AMHR2, 1-BP DEL, 1692A deletion Pathogenic
8 AMHR2 NM_020547.3(AMHR2): c.1217G> A (p.Arg406Gln) single nucleotide variant Pathogenic rs137853104 GRCh37 Chromosome 12, 53823691: 53823691

Expression for Persistent Mullerian Duct Syndrome, Type Ii

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

Pathways for Persistent Mullerian Duct Syndrome, Type Ii

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

id Super pathways Score Top Affiliating Genes
1 10.88 AMH AMHR2
2 9.66 AMH AMHR2

GO Terms for Persistent Mullerian Duct Syndrome, Type Ii

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

id Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.16 AMH AMHR2
2 sex differentiation GO:0007548 8.96 AMH AMHR2
3 Mullerian duct regression GO:0001880 8.62 AMH AMHR2

Sources for Persistent Mullerian Duct Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....