ORPHA:2856
Persistent Müllerian duct syndrome
Synonyms: PMDS · Persistent Müllerian derivatives
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare disorder/difference of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Persistent Müllerian duct syndrome | PMDS · Persistent Müllerian derivatives |
| fr | Syndrome de persistance des canaux de Müller | Dérivés müllériens persistants · Homme à utérus · PMDS |
| de | Müller-Gang-Persistenzsyndrom | Müller-Gang, persistierender · Müllersche Derivative, persistierende · PMDS |
| es | Síndrome de los conductos de Müller persistentes | Derivados mullerianos persistentes · PMDS · Síndrome del conducto mülleriano persistente |
| it | Sindrome da persistenza dei dotti mülleriani | Derivati mülleriani persistenti · PMDS |
| nl | Persisterende gang van Müller-syndroom | PMDS · Persisterende Mülleriaanse derivaten |
| pt | Síndrome de canal de Müller persistente | Derivados mullerianos persistentes |
| pl | Zespół przetrwałego przewodu Mullera | PMDS · Przetrwałe struktury Mullera |
| cs | Syndrom perzistujícího Müllerova vývodu | PMDS · Perzistující Müllerovy deriváty |
| uk | Синдром персистуючої Мюллерової протоки | Стійкі похідні Мюллера · PMDS |
| zh | 苗勒管持续存在综合征 | 苗勒管衍生物持续存在 |
| tr | Kalıcı Müllerian kanal sendromu | PMDS · Kalıcı Müllerian türevleri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261550 | E | validated | |
| ICD-10 | Q55.8 | NTBT | attributed | validated |
| ICD-11 | LD2A.Y | NTBT | index | validated |
| MONDO | 0009857 | E | validated | |
| MeSH | C536665 | E | validated | |
| UMLS | C1849930 | E | validated | |
| GARD | 8435 | E | validated | |
| MedDRA | 10081352 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:32535146,XY difference of sex development of endocrine origin
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare endocrine diseases - ORPHA:399824Rare disorder with obstructive azoospermia
rare infertility disorders - ORPHA:400003Rare genetic disorder with obstructive azoospermia
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AMH | Disease-causing germline mutation(s) in | Assessed | HGNC:464 | ENSG00000104899 | 600957 | 19p13.3 | anti-Mullerian hormone | 23295284[PMID] |
| AMHR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:465 | ENSG00000135409 | 600956 | 12q13.13 | anti-Mullerian hormone receptor type 2 | 23295284[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 35386545[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000028 | Cryptorchidism | |
| Frequent (79-30%) | ||
| HP:0000023 | Inguinal hernia | |
| HP:0000037 | Male pseudohermaphroditism | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2856
- This record as JSON: /data/d/2856.json