Familial hyperprolactinemia
Synonyms: Familial isolated prolactin receptor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hyperprolactinemia | Familial isolated prolactin receptor deficiency |
| fr | Hyperprolactinémie familiale | Déficit familial isolé en récepteur de la prolactine |
| de | Hyperprolaktinämie, familiäre | Prolaktin-Rezeptor-Mangel, familiärer isolierter |
| es | Hiperprolactinemia familiar | Deficiencia aislada del receptor de prolactina familiar |
| it | Iperprolattinemia familiare | Deficit isolato familiare del recettore della prolattina |
| nl | Familiale hyperprolactinemie | Familiale geïsoleerde deficiëntie van prolactinereceptor |
| pt | Hiperprolactinémia familiar | |
| pl | Hiperprolaktynemia rodzinna | Rodzinny izolowany Niedobór receptora prolaktyny |
| cs | Familiární hyperprolaktinémie | Familiární izolovaný deficit prolaktinového receptoru |
| uk | Сімейна гіперпролактинемія | Сімейний ізольований дефіцит рецепторів пролактину |
| zh | 家族性高催乳素血症 | 家族性孤立性催乳素受体缺乏症 |
| tr | ailesel hiperprolaktinemi | Ailesel izole prolaktin reseptör eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615555 | E | validated | |
| ICD-10 | E22.1 | NTBT | attributed | validated |
| ICD-11 | 5A60.1 | NTBT | attributed | validated |
| MONDO | 0014250 | E | validated | |
| UMLS | C4706551 | 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 (6):
- ORPHA:715120Hyperpituitarism
rare endocrine diseases - ORPHA:399831Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
rare infertility disorders - ORPHA:400011Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
rare genetic diseases - ORPHA:183628Rare genetic hypothalamic or pituitary disease
rare genetic diseases - ORPHA:399572Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
rare infertility disorders - ORPHA:399983Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRLR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9446 | ENSG00000113494 | 176761 | 5p13.2 | prolactin receptor | 24195502[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
9 annotations · validated 2016-01-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100829 | Galactorrhea | |
| HP:0000876 | Oligomenorrhea | |
| Frequent (79-30%) | ||
| HP:0000141 | Amenorrhea | |
| HP:0012886 | Hemorrhagic ovarian cyst | |
| HP:0000789 | Infertility | |
| Occasional (29-5%) | ||
| HP:0000134 | Female hypogonadism | |
| HP:0000132 | Menorrhagia | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24597878[PMID]_15218000[PMID]_24597877[PMID]_24597880[PMID]_24597879[PMID]_24195502[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397685
- This record as JSON: /data/d/397685.json