Müllerian aplasia and hyperandrogenism
Synonyms: Müllerian duct failure and hyperandrogenism · WNT4 deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndrome with 46,XX difference of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Müllerian aplasia and hyperandrogenism | Müllerian duct failure and hyperandrogenism · WNT4 deficiency |
| fr | Aplasie müllérienne et hyperandrogénie | Aplasie des canaux de Müller et hyperandrogénie · Déficit en WNT4 |
| de | Müller-Gang-Aplasie und Hyperandrogenismus | WNT4-Mangel |
| es | Aplasia mulleriana e hiperandrogenismo | Deficiencia de WNT4 · Fallo en el conducto mulleriano e hiperandrogenismo |
| it | Aplasia mülleriana e iperandrogenismo | Deficit di WNT4 · Insufficienza dei dotti mülleriani e iperandrogenismo |
| nl | Mülleriaanse aplasie en hyperandrogenisme | Aplasie van gang van Müller en hyperandrogenisme · WNT4-deficiëntie |
| pt | Síndrome Mayer-Rokitansky-Küster-Hauser atípico | Deficiência WNT4 · Hiperandrogenismo e falência dos ductos Mulerianos |
| pl | Aplazja przewodów Mullera i hiperandrogenizm | Niedobór WNT4 · Nieprawidłowości przewodów Mullera i hiperandrogenizm |
| cs | Mülleriánská aplázie a hyperandrogenismus | Porucha Müllerových vývodu a hyperandrogenismus · WNT4 deficit · Porucha Müllerových vývodů a hyperandrogenismus |
| uk | Мюллерова аплазія та гіперандрогенія | Неспроможність Мюллерової протоки та гіперандрогенія · Дефіцит WNT4 |
| zh | 苗勒管发育不全和雄激素增多症 | 苗勒管发育不全和雄激素增多症 |
| tr | Müllerian aplazisi ve hiperandrojenizm | WNT4 eksikliği · Müllerian kanal yetmezliği ve hiperandrojenizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158330 | E | validated | |
| ICD-10 | Q51.8 | NTBT | attributed | validated |
| MONDO | 0008019 | E | validated | |
| MeSH | C567186 | E | validated | |
| UMLS | C2675014 | E | validated | |
| MedDRA | 10088125 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:180068Partial bilateral aplasia of the Müllerian ducts
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:325109Syndrome with 46,XX difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WNT4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12783 | ENSG00000162552 | 603490 | 1p36.12 | Wnt family member 4 | 16959810[PMID]_18182450[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
22 annotations · validated 2016-03-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000142 | Abnormality of the vagina | |
| HP:0001061 | Acne | |
| HP:0009937 | Facial hirsutism | |
| HP:0002292 | Frontal balding | |
| HP:0009890 | High anterior hairline | |
| HP:0001007 | Hirsutism | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0000786 | Primary amenorrhea | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001513 | Obesity | |
| Occasional (29-5%) | ||
| HP:0000137 | Abnormality of the ovary | |
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0002967 | Cubitus valgus | |
| HP:0000411 | Protruding ear | |
| HP:0000104 | Renal agenesis | |
| HP:0000914 | Shield chest | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 18182450[PMID]_15317892[PMID]_16959810[PMID]_23725784[PMID]_22906151[PMID]_17359527[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247768
- This record as JSON: /data/d/247768.json