Fragile X-associated primary ovarian insufficiency
Synonyms: FXPOI · Fragile X-associated POF · Fragile X-associated POI · Fragile X-associated premature ovarian failure · POF associated with fragile X premutation · POI associated with fragile X premutation · Premature ovarian failure associated with fragile X premutation · Primary ovarian insufficiency associated with fragile X premutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in <i>FMR1</i> gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fragile X-associated primary ovarian insufficiency | FXPOI · Fragile X-associated POF · Fragile X-associated POI · Fragile X-associated premature ovarian failure · POF associated with fragile X premutation · POI associated with fragile X premutation · Premature ovarian failure associated with fragile X premutation · Primary ovarian insufficiency associated with fragile X premutation |
| fr | Insuffisance ovarienne précoce liée à la prémutation de l'X fragile | FXPOI · IOP liée à prémutation du X fragile · Insuffisance ovarienne primitive liée à prémutation du X fragile · Insuffisance ovarienne précoce liée à prémutation du X fragile |
| de | Fragiles X-assoziierte prämature Ovarialinsuffizienz | FXPOI · Fragiles X-assoziierte vorzeitige Ovarialinsuffizienz · Fragiles X-assoziiertes POF |
| es | Insuficiencia ovárica primaria asociada al cromosoma X frágil | FOP asociado a una premutación del cromosoma X frágil · FOP asociado al cromosoma X frágil · Fallo ovárico precoz asociado a una premutación del cromosoma X frágil · Fallo ovárico precoz asociado al cromosoma X frágil · IOP asociada a una premutación del cromosoma X frágil · IOP asociada al cromosoma X frágil · Insuficiencia ovárica primaria asociada a una premutación del cromosoma X frágil |
| it | Insufficienza ovarica primitiva correlata all'X fragile | FXPOI · Insufficienza ovarica precoce correlata all'X fragile · Insufficienza ovarica precoce correlata alla premutazione dell'X fragile · Insufficienza ovarica primaria correlata alla premutazione dell'X fragile · POF correlata all'X fragile · POF correlata alla premutazione dell'X fragile · POI correlata all'X fragile · POI correlata alla premutazione dell'X fragile |
| nl | Fragiele-X-geassocieerde primaire insufficiëntie van ovarium | FXPOI · Fragiele-X-geassocieerd POF · Fragiele-X-geassocieerd prematuur ovariumfalen · Fragiele-X-geassocieerde POI · POF geassocieerd met fragiele-X-premutatie · POI geassocieerd met fragiele-X-premutatie · Prematuur ovariumfalen geassocieerd met fragiele-X-premutatie · Primaire ovariële insufficiëntie geassocieerd met fragiele-X-premutatie |
| pt | Insuficiência ovárica primária associada ao X frágil | Falência ovárica prematura associada à pré-mutação de X frágil · Insuficiência ovárica primária associada à pré-mutação de X frágil · POF associada ao X frágil · POF associada à pré-mutação do X frágil · POI associada ao X frágil · POI associada à pré-mutação do X frágil · X frágil associado à falência ovárica prematura · X frágil associado à insuficiência ovárica primária |
| pl | Pierwotna niewydolność jajników związana z zespołem łamliwego chromosomu X | = en |
| cs | Primární ovariální insuficience spojená se syndromem fragilního X | = en |
| uk | Первинна яєчникова недостатність, асоційована з ламкою Х-хромосомою | Ламка Х-асоційована POF · Ламка Х-асоційовані POI · Ламка Х-асоційована передчасна недостатність яєчників · FXPOI · POF, асоційована з ламкою Х-хромосомою · POI, асоційовані з ламкою Х-хромосомою · Передчасна оваріальна недостатність, повязана з ламкою Х-хромосомою · Первинна яєчникова недостатність, повязана з ламкою Х-хромосомою |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311360 | E | validated | |
| ICD-10 | E28.3 | NTBT | attributed | validated |
| MONDO | 0010706 | E | validated | |
| UMLS | C4552079 | 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 (2):
- ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FMR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3775 | ENSG00000102081 | 309550 | Xq27.3 | fragile X messenger ribonucleoprotein 1 | 36447079[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642691
- This record as JSON: /data/d/642691.json