MCID: PRS128
MIFTS: 32

Persistent Mullerian Duct Syndrome, Types I and Ii

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

Aliases & Classifications for Persistent Mullerian Duct Syndrome, Types I and Ii

MalaCards integrated aliases for Persistent Mullerian Duct Syndrome, Types I and Ii:

Name: Persistent Mullerian Duct Syndrome, Types I and Ii 57
Persistent Mullerian Duct Syndrome, Type I 57 13 6
Persistent Mullerian Duct Syndrome, Type Ii 57 6
Pmds 57 59
Female Genital Ducts in Otherwise Normal Male 57
Persistent Muellerian Duct Syndrome Type Ii 75
Persistent Muellerian Duct Syndrome Type I 75
Persistent Muellerian Duct Syndrome 1 75
Persistent Muellerian Duct Syndrome 2 75
Pseudohermaphroditism, Male Internal 57
Persistent Müllerian Duct Syndrome 59
Persistent Müllerian Derivatives 59
Persistent Oviduct Syndrome 57
Hernia Uteri Inguinale 57
Pmds-1 75
Pmds-2 75
Pmds1 75
Pmds2 75

Characteristics:

Orphanet epidemiological data:

59
persistent müllerian duct syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive with male sex limitation


HPO:

32
persistent mullerian duct syndrome, types i and ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 261550
Orphanet 59 ORPHA2856
UMLS via Orphanet 74 C1849930
ICD10 via Orphanet 34 Q55.8
MESH via Orphanet 45 C536665
MedGen 42 C1849930

Summaries for Persistent Mullerian Duct Syndrome, Types I and Ii

OMIM : 57 The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991). (261550)

MalaCards based summary : Persistent Mullerian Duct Syndrome, Types I and Ii, also known as persistent mullerian duct syndrome, type i, is related to persistent mullerian duct syndrome and pelizaeus-merzbacher disease. An important gene associated with Persistent Mullerian Duct Syndrome, Types I and 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. Affiliated tissues include uterus, and related phenotypes are inguinal hernia and cryptorchidism

UniProtKB/Swiss-Prot : 75 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, Types I and Ii

Diseases in the Persistent Mullerian Duct Syndrome family:

Persistent Mullerian Duct Syndrome, Types I and Ii

Diseases related to Persistent Mullerian Duct Syndrome, Types I and Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome 31.7 AMH AMHR2
2 pelizaeus-merzbacher disease 12.1
3 spastic paraplegia 2, x-linked 11.1
4 microphthalmia, syndromic 9 11.1
5 pelizaeus-merzbacher-like disease 11.1
6 leukodystrophy, hypomyelinating, 3 10.9
7 pellucid marginal degeneration 10.9
8 pelizaeus-merzbacher disease, classic form 10.9
9 pelizaeus-merzbacher disease, transitional form 10.9
10 inguinal hernia 10.0
11 lung agenesis 9.9
12 microphthalmia 9.9
13 seminoma 9.9
14 movement disease 9.9
15 dissociative seizures 9.9
16 testicular seminoma 9.9
17 psychogenic movement 9.9
18 mixed gonadal dysgenesis 9.5 AMH AMHR2
19 sex differentiation disease 9.4 AMH AMHR2
20 pseudohermaphroditism 9.2 AMH AMHR2
21 cryptorchidism, unilateral or bilateral 9.0 AMH AMHR2

Graphical network of the top 20 diseases related to Persistent Mullerian Duct Syndrome, Types I and Ii:



Diseases related to Persistent Mullerian Duct Syndrome, Types I and Ii

Symptoms & Phenotypes for Persistent Mullerian Duct Syndrome, Types I and Ii

Symptoms via clinical synopsis from OMIM:

57
GU:
bilateral cryptorchidism
normal penis

Lab:
antimullerian hormone (amh) defect
premature centromeric divisions and hypoploid counts

Abdomen:
inguinal hernias
inguinal uterus and fallopian tubes


Clinical features from OMIM:

261550

Human phenotypes related to Persistent Mullerian Duct Syndrome, Types I and Ii:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 very rare (1%) Frequent (79-30%) HP:0000023
2 cryptorchidism 59 Very frequent (99-80%)
3 male pseudohermaphroditism 59 Frequent (79-30%)
4 male infertility 32 frequent (33%) HP:0003251
5 bilateral cryptorchidism 32 very rare (1%) HP:0008689
6 abnormality of male internal genitalia 32 hallmark (90%) HP:0000022
7 abnormality of circulating hormone level 32 very rare (1%) HP:0003117

MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome, Types I and Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 AMH AMHR2

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome, Types I and Ii

Search Clinical Trials , NIH Clinical Center for Persistent Mullerian Duct Syndrome, Types I and Ii

Genetic Tests for Persistent Mullerian Duct Syndrome, Types I and Ii

Anatomical Context for Persistent Mullerian Duct Syndrome, Types I and Ii

MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome, Types I and Ii:

41
Uterus

Publications for Persistent Mullerian Duct Syndrome, Types I and Ii

Articles related to Persistent Mullerian Duct Syndrome, Types I and Ii:

# Title Authors Year
1
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. ( 22185203 )
2011

Variations for Persistent Mullerian Duct Syndrome, Types I and Ii

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

75 (show all 17)
# 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, Types I and Ii:

6
(show all 18)
# 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 NM_000479.4(AMH): c.1144G> T (p.Glu382Ter) single nucleotide variant Pathogenic rs267606654 GRCh38 Chromosome 19, 2251418: 2251418
3 AMH AMH, 14-BP DEL, EX2 deletion Pathogenic
4 AMH NM_000479.4(AMH): c.571C> T (p.Arg191Ter) single nucleotide variant Pathogenic rs104894666 GRCh37 Chromosome 19, 2250666: 2250666
5 AMH NM_000479.4(AMH): c.571C> T (p.Arg191Ter) single nucleotide variant Pathogenic rs104894666 GRCh38 Chromosome 19, 2250667: 2250667
6 AMH NM_000479.4(AMH): c.1397_1419dup23 (p.Glu474Serfs) duplication Pathogenic rs397518444 GRCh37 Chromosome 19, 2251670: 2251692
7 AMH NM_000479.4(AMH): c.1397_1419dup23 (p.Glu474Serfs) duplication Pathogenic rs397518444 GRCh38 Chromosome 19, 2251671: 2251693
8 AMHR2 AMHR2, IVS2DS, G-T, +1 single nucleotide variant Pathogenic
9 AMHR2 AMHR2, 27-BP DEL, NT6331 deletion Pathogenic
10 AMHR2 AMHR2, 1-BP DEL, 1692A deletion Pathogenic
11 AMHR2 NM_020547.3(AMHR2): c.1217G> A (p.Arg406Gln) single nucleotide variant Pathogenic rs137853104 GRCh37 Chromosome 12, 53823691: 53823691
12 AMHR2 NM_020547.3(AMHR2): c.1217G> A (p.Arg406Gln) single nucleotide variant Pathogenic rs137853104 GRCh38 Chromosome 12, 53429907: 53429907
13 AMH NM_000479.4(AMH): c.146G> T (p.Ser49Ile) single nucleotide variant Benign rs10407022 GRCh37 Chromosome 19, 2249477: 2249477
14 AMH NM_000479.4(AMH): c.146G> T (p.Ser49Ile) single nucleotide variant Benign rs10407022 GRCh38 Chromosome 19, 2249478: 2249478
15 AMH NM_000479.4(AMH): c.1239T> A (p.Gly413=) single nucleotide variant Benign rs7252789 GRCh38 Chromosome 19, 2251513: 2251513
16 AMH NM_000479.4(AMH): c.1239T> A (p.Gly413=) single nucleotide variant Benign rs7252789 GRCh37 Chromosome 19, 2251512: 2251512
17 AMHR2 NM_020547.3(AMHR2): c.622-6C> T single nucleotide variant Benign rs2071558 GRCh37 Chromosome 12, 53819467: 53819467
18 AMHR2 NM_020547.3(AMHR2): c.622-6C> T single nucleotide variant Benign rs2071558 GRCh38 Chromosome 12, 53425683: 53425683

Expression for Persistent Mullerian Duct Syndrome, Types I and Ii

Search GEO for disease gene expression data for Persistent Mullerian Duct Syndrome, Types I and Ii.

Pathways for Persistent Mullerian Duct Syndrome, Types I and Ii

Pathways related to Persistent Mullerian Duct Syndrome, Types I and Ii according to GeneCards Suite gene sharing:

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

GO Terms for Persistent Mullerian Duct Syndrome, Types I and Ii

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

# 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, Types I and Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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