PMDS
MCID: PRS128
MIFTS: 42

Persistent Mullerian Duct Syndrome, Types I and Ii (PMDS)

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 56
Persistent Mullerian Duct Syndrome, Type I 56 29 13 6
Persistent Mullerian Duct Syndrome, Type Ii 56 29 6
Pmds 56 58
Mullerian Duct Syndrome. Persistent, Types I and Ii 39
Female Genital Ducts in Otherwise Normal Male 56
Persistent Muellerian Duct Syndrome Type Ii 73
Persistent Muellerian Duct Syndrome Type I 73
Persistent Muellerian Duct Syndrome 1 73
Persistent Muellerian Duct Syndrome 2 73
Pseudohermaphroditism, Male Internal 56
Persistent Mullerian Duct Syndrome 58
Persistent Mullerian Derivatives 58
Persistent Oviduct Syndrome 56
Hernia Uteri Inguinale 56
Pmds-1 73
Pmds-2 73
Pmds1 73
Pmds2 73

Characteristics:

Orphanet epidemiological data:

58
persistent mullerian duct syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive with male sex limitation


HPO:

31
persistent mullerian duct syndrome, types i and ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 261550
MESH via Orphanet 44 C536665
ICD10 via Orphanet 33 Q55.8
UMLS via Orphanet 72 C1849930
Orphanet 58 ORPHA2856
MedGen 41 C1849930

Summaries for Persistent Mullerian Duct Syndrome, Types I and Ii

UniProtKB/Swiss-Prot : 73 Persistent Muellerian duct syndrome 1: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
Persistent Muellerian duct syndrome 2: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

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 disorders of sexual development. An important gene associated with Persistent Mullerian Duct Syndrome, Types I and Ii is AMH (Anti-Mullerian Hormone), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and ALK2 signaling events. The drugs Sertraline and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include uterus, skin and testis, and related phenotypes are abnormality of male internal genitalia and male infertility

OMIM : 56 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)

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 top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome 33.0 AMHR2 AMH
2 disorders of sexual development 29.7 AMHR2 AMH
3 hermaphroditism 29.6 AMHR2 AMH
4 cryptorchidism, unilateral or bilateral 29.4 AMHR2 AMH
5 pseudohermaphroditism 29.3 AMHR2 AMH
6 pelizaeus-merzbacher disease 12.5
7 microphthalmia, syndromic 9 11.8
8 spastic paraplegia 2, x-linked 11.8
9 pelizaeus-merzbacher-like disease 11.4
10 hypomyelinating leukodystrophy 11.3
11 pelizaeus-merzbacher disease, classic form 11.2
12 pelizaeus-merzbacher disease, transitional form 11.2
13 leukodystrophy, hypomyelinating, 3 11.2
14 pellucid marginal degeneration 11.2
15 leukodystrophy 10.4
16 muscular dystrophy 10.4
17 progressive muscular dystrophy 10.4
18 hypospadias 10.3
19 infertility 10.3
20 paraplegia 10.2
21 plp1 disorders 10.2
22 head injury 10.2
23 germ cells tumors 10.2
24 azoospermia 10.1
25 triiodothyronine receptor auxiliary protein 10.1
26 spinal muscular atrophy, type i 10.1
27 pulmonary hypoplasia, primary 10.1
28 myelodysplastic syndrome 10.1
29 alexithymia 10.1
30 inguinal hernia 10.1
31 microphthalmia 10.1
32 visual epilepsy 10.1
33 neutropenia 10.1
34 conversion disorder 10.1
35 myopathy 10.1
36 seminoma 10.1
37 premenstrual tension 10.1
38 hypereosinophilic syndrome 10.1
39 testicular seminoma 10.1
40 headache 10.1
41 psychogenic movement 10.1
42 seizure disorder 10.1
43 jejunal atresia 10.0
44 46,xy sex reversal 3 10.0
45 autosomal recessive disease 10.0
46 hypogonadotropic hypogonadism 10.0
47 hydronephrosis 10.0
48 endometriosis of ovary 10.0
49 endometriosis 10.0
50 teratoma 10.0

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

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

31 58 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of male internal genitalia 31 hallmark (90%) HP:0000022
2 male infertility 31 frequent (33%) HP:0003251
3 inguinal hernia 58 31 very rare (1%) Frequent (79-30%) HP:0000023
4 bilateral cryptorchidism 31 very rare (1%) HP:0008689
5 abnormal circulating hormone level 31 very rare (1%) HP:0003117
6 cryptorchidism 58 Very frequent (99-80%)
7 male pseudohermaphroditism 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
G U:
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

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

45
# 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

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sertraline Approved Phase 4 79617-96-2 68617
2 Antidepressive Agents Phase 4
3 Psychotropic Drugs Phase 4
4 Serotonin Uptake Inhibitors Phase 4
5 Neurotransmitter Agents Phase 4
6
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
7
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
8 Artemisinins
9 Artemisinine
10 Antimalarials
11 Retinol palmitate
12 retinol

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acoustic Startle Response in Women With Premenstrual Mood Disorders Recruiting NCT02777372 Phase 4 Sertraline
2 A Cost-effectiveness Analysis of Alternative Strategies for the Deployment of ACTs at the Community Level in Cameroon and Nigeria Completed NCT01350752
3 Compare the Effectiveness of Modified Toy Cars Training With Various Intensity of Postural Combinations on Mobility and Socialization in Toddlers With Motor Disabilities: a Randomized Controlled Trial. Recruiting NCT03707405

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

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

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

# Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome, Type Ii 29
2 Persistent Mullerian Duct Syndrome, Type I 29

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

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

40
Uterus, Skin, Testis, Testes

Publications for Persistent Mullerian Duct Syndrome, Types I and Ii

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

(show all 22)
# Title Authors PMID Year
1
A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome. 6 56
11760020 2001
2
A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. 56 6
8872466 1996
3
Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor. 56 6
7493017 1995
4
Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome. 56 6
2023927 1991
5
Anti-Müllerian hormone in three intersex conditions. 56 6
1809231 1991
6
Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport. 6
19457927 2009
7
Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro. 6
11549681 2001
8
Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 56
8162013 1994
9
H-Y (SDM) antibody specifically binds Müllerian inhibiting substance. 56
7686131 1993
10
Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family. 6
1483695 1992
11
Müllerian inhibiting substance as a marker for ovarian sex-cord tumor. 56
1732773 1992
12
Premature centromeric divisions and prominent telomeres in a patient with persistent mullerian duct syndrome. 56
1967991 1990
13
Familial uterine hernia syndrome: report of an Arab family with four affected males. 56
2764027 1989
14
The persistent Müllerian duct syndrome: a molecular approach. 6
2562843 1989
15
Cell-autonomous action of the testis-determining gene: Sertoli cells are exclusively XY in XX----XY chimaeric mouse testes. 56
3166423 1988
16
Cloning and expression of cDNA for anti-müllerian hormone. 56
2426698 1986
17
Familial persistent müllerian duct syndrome. 56
6708239 1984
18
Familial persistent Müllerian duct syndrome. 56
4634 1976
19
Familial occurrence of persistent Mullerian structures in otherwise normal males. 56
4144375 1973
20
Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder. 56
4148776 1973
21
Skin. 56
12334405 1955
22
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. 61
22185203 2011

Variations for Persistent Mullerian Duct Syndrome, Types I and Ii

ClinVar genetic disease variations for Persistent Mullerian Duct Syndrome, Types I and Ii:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMH NM_000479.5(AMH):c.1144G>T (p.Glu382Ter)SNV Pathogenic 8622 rs267606654 19:2251417-2251417 19:2251418-2251418
2 AMH AMH, 14-BP DEL, EX2deletion Pathogenic 8623
3 AMH NM_000479.5(AMH):c.571C>T (p.Arg191Ter)SNV Pathogenic 8624 rs104894666 19:2250666-2250666 19:2250667-2250667
4 AMH NM_000479.5(AMH):c.1397_1419dup (p.Glu474delinsSerSerAlaTer)duplication Pathogenic 8625 rs397518444 19:2251669-2251670 19:2251670-2251671
5 AMHR2 AMHR2, IVS2DS, G-T, +1SNV Pathogenic 8626
6 AMHR2 AMHR2, 27-BP DEL, NT6331deletion Pathogenic 8627
7 AMHR2 AMHR2, 1-BP DEL, 1692Adeletion Pathogenic 8628
8 AMHR2 NM_020547.3(AMHR2):c.1217G>A (p.Arg406Gln)SNV Pathogenic 8629 rs137853104 12:53823691-53823691 12:53429907-53429907
9 AMH NM_000479.5(AMH):c.974A>G (p.Gln325Arg)SNV Benign/Likely benign 381531 rs140765565 19:2251247-2251247 19:2251248-2251248
10 AMH NM_000479.5(AMH):c.146G>T (p.Ser49Ile)SNV Benign 518296 rs10407022 19:2249477-2249477 19:2249478-2249478
11 AMH NM_000479.5(AMH):c.1239T>A (p.Gly413=)SNV Benign 518297 rs7252789 19:2251512-2251512 19:2251513-2251513
12 AMHR2 NM_020547.3(AMHR2):c.622-6C>TSNV Benign 522208 rs2071558 12:53819467-53819467 12:53425683-53425683

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

73 (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 rs135878711
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

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 10.93 AMHR2 AMH
2 9.66 AMHR2 AMH

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 AMHR2 AMH
2 sex differentiation GO:0007548 8.96 AMHR2 AMH
3 Mullerian duct regression GO:0001880 8.62 AMHR2 AMH

Sources for Persistent Mullerian Duct Syndrome, Types I and Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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