{"Name":"Persistent Mullerian duct syndrome","DiseaseID__c":"GARD:0008435","id":8435,"encodedName":"persistent-mullerian-duct-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Persistent Mullerian duct syndrome","Xref_IDs__c":"702358005; C120188; C1849930; C536665; DOID:0050791; MEDGEN:342367; MONDO:0009857; OMIM:261550; ORPHA:2856","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009857","Disease_Description__c":"Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.","GARD_Name__c":"Persistent Mullerian duct syndrome","GARD_Synonym__c":"female genital ducts in otherwise normal male; hernia uteri inguinale; persistent muellerian duct syndrome; persistent mullerian derivatives; persistent mullerian duct syndrome, type i; persistent mullerian duct syndrome, type ii; persistent mullerian duct syndrome, types i and ii; persistent müllerian derivatives; persistent müllerian duct syndrome; persistent oviduct syndrome; pmds; pseudohermaphroditism, male internal","Curated_Disease_Description_Source__c":"GARD:0008435","Curated_Disease_Description__c":"Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia. The first noted signs and symptoms in males with persistent Müllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are typically discovered when surgery is performed to treat these conditions. The testes and female reproductive organs can be located in unusual positions in persistent Müllerian duct syndrome. Occasionally, both testes are undescended (bilateral cryptorchidism) and the uterus is in the pelvis. More often, one testis has descended into the scrotum normally, and one has not. Sometimes, the descended testis pulls the fallopian tube and uterus into the track through which it has descended. This creates a condition called hernia uteri inguinalis, a form of inguinal hernia. In other cases, the undescended testis from the other side of the body is also pulled into the same track, forming an inguinal hernia. This condition, called transverse testicular ectopia, is common in people with persistent Müllerian duct syndrome. Other effects of persistent Müllerian duct syndrome may include the inability to father children (infertility) or blood in the semen (hematospermia). Also, the undescended testes may break down (degenerate) or develop cancer if left untreated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:2856","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009857","ORPHANET_ID__c":"ORPHA:2856","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de los conductos de müller persistentes","Spanish_Description_Source__c":"ORPHA:2856","Spanish_Description__c":"El síndrome del conducto mülleriano persistente (SCMP) es un raro trastorno del desarrollo sexual (TDS) caracterizado por la persistencia de los derivados müllerianos, el útero y/o las trompas de Falopio, en por lo demás niños normalmente virilizados.","Spanish_Disease_Name__c":"síndrome de los conductos de müller persistentes","Spanish_GARD_Synonym__c":"derivados mullerianos persistentes; pmds; síndrome del conducto mülleriano persistente","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia. The first noted signs and symptoms in males with persistent Müllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are typically discovered when surgery is performed to treat these conditions. The testes and female reproductive organs can be located in unusual positions in persistent Müllerian duct syndrome. Occasionally, both testes are undescended (bilateral cryptorchidism) and the uterus is in the pelvis. More often, one testis has descended into the scrotum normally, and one has not. Sometimes, the descended testis pulls the fallopian tube and uterus into the track through which it has descended. This creates a condition called hernia uteri inguinalis, a form of inguinal hernia. In other cases, the undescended testis from the other side of the body is also pulled into the same track, forming an inguinal hernia. This condition, called transverse testicular ectopia, is common in people with persistent Müllerian duct syndrome. Other effects of persistent Müllerian duct syndrome may include the inability to father children (infertility) or blood in the semen (hematospermia). Also, the undescended testes may break down (degenerate) or develop cancer if left untreated.","Curated_Disease_Description_Source__c":"GARD:0008435","GARD_Synonym__c":"female genital ducts in otherwise normal male; hernia uteri inguinale; persistent muellerian duct syndrome; persistent mullerian derivatives; persistent mullerian duct syndrome, type i; persistent mullerian duct syndrome, type ii; persistent mullerian duct syndrome, types i and ii; persistent müllerian derivatives; persistent müllerian duct syndrome; persistent oviduct syndrome; pmds; pseudohermaphroditism, male internal","Name":"Persistent Mullerian duct syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"},{"Account_Name__c":"Resolve: The National Infertility Association","Website__c":"https://resolve.org/"},{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2856"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849930"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008435","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342367","Source__c":"C1849930","Xref__c":"MEDGEN:342367"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849930","Source__c":"C1849930","Xref__c":"C1849930"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120188","Source__c":"C1849930; MONDO:0009857","Xref__c":"C120188"},{"URL__c":"https://www.orpha.net/en/disease/detail/2856","Source__c":"C1849930; MONDO:0009857; ORPHA:2856","Xref__c":"ORPHA:2856"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536665","Source__c":"MONDO:0009857","Xref__c":"C536665"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702358005","Source__c":"C1849930; MONDO:0009857","Xref__c":"702358005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050791","Source__c":"MONDO:0009857","Xref__c":"DOID:0050791"},{"URL__c":"https://www.omim.org/entry/261550","Source__c":"C1849930; MONDO:0009857; ORPHA:2856","Xref__c":"OMIM:261550"},{"URL__c":"https://medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome","Source__c":"GARD:0008435","Xref__c":"https://medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009857","Source__c":"GARD:0008435","Xref__c":"MONDO:0009857"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AMHR2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/amhr2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AMH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/amh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2856","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000037","HPO_Name__c":"Male pseudohermaphroditism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2856","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2856","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["female genital ducts in otherwise normal male"," hernia uteri inguinale"," persistent muellerian duct syndrome"," persistent mullerian derivatives"," persistent mullerian duct syndrome, type i"," persistent mullerian duct syndrome, type ii"," persistent mullerian duct syndrome, types i and ii"," persistent müllerian derivatives"," persistent müllerian duct syndrome"," persistent oviduct syndrome"," pmds"," pseudohermaphroditism, male internal"]}