KEGG DISEASE: Persistent Mullerian duct syndrome

DISEASE: Persistent Mullerian duct syndrome

Entry

H00609                      Disease

Name

Persistent Mullerian duct syndrome

Description

Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either by a mutation in the Anti-Mullerian hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts.

Category

Reproductive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2A  Malformative disorders of sex development
    H00609  Persistent Mullerian duct syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00609  Persistent Mullerian duct syndrome

Pathway

hsa04350

TGF-beta signaling pathway

Network

nt06507 TGFB signaling

Gene

(Type I) AMH [HSA:268] [KO:K04665]
(Type II) AMHR2 [HSA:269] [KO:K04672]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:18811725

Authors

Mendonca BB, Domenice S, Arnhold IJ, Costa EM

Title

46,XY disorders of sex development (DSD).

Journal

Clin Endocrinol (Oxf) 70:173-87 (2009)
DOI:10.1111/j.1365-2265.2008.03392.x

Reference

PMID:15878900

Authors

Josso N, Belville C, di Clemente N, Picard JY

Title

AMH and AMH receptor defects in persistent Mullerian duct syndrome.

Journal

Hum Reprod Update 11:351-6 (2005)
DOI:10.1093/humupd/dmi014

Reference

PMID:28742509

Authors

Altincik A, Karaca F, Onay H

Title

Persistent Mullerian duct syndrome: A novel mutation in the Alphanti-Mullerian Etaormone gene.

Journal

Hormones (Athens) 16:205-208 (2017)
DOI:10.14310/horm.2002.1735

» Japanese version

All links

Network (3)   
   KEGG NETWORK (1)   
   KEGG VARIANT (2)   
Disease (1)   
   OMIM (1)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (3)   
   PubMed (3)   
All databases (11)   

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