Hyperprolactinemia

Preferred Label : Hyperprolactinemia;

Symbol : HPRL;

CISMeF acronym : HPRL;

Type : Phenotype, molecular basis known;

Description : Hyperprolactinemia unrelated to pregnancy occurs in approximately 0.1 to 0.3% of the general population and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiologic hyperprolactinemia is caused mainly by drugs or by tumors in the anterior pituitary gland, primarily prolactinomas (see 600634). However, 10 to 60% of patients with hyperprolactinemia who undergo MRI have normal findings (summary by Newey et al., 2013).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the prolactin receptor gene (PRLR, 176761.0002);

Prefixed ID : #615555;

Détails

Origin ID

615555;

UMLS CUI

C0020514;

Automatic exact mappings (from CISMeF team)
- PRLR wt Allele [NCIt concept]
- endocrine/metabolic/nutritional disease other [ICPC-2 Rubric]
- idiopathic hyperprolactinemia [SNOMED Notion]
Currated CISMeF NLP mapping
- HYPERPROLACTINAEMIA [WHO-ART Preferred Term]
- Hyperprolactinaemia [MedDRA Preferred Term]
- Hyperprolactinaemia [ICD-11 Subcategory]
- Hyperprolactinaemia [ICD-10 Sub-category (who)]
- Hyperprolactinemia [PASCAL descriptor]
- Hyperprolactinemia [ICD-10 Sub-category]
- Hyperprolactinemia [MedDRA LLT]
- Hyperprolactinemia [NCIt concept]
- Hyperprolactinemia (disorder) [SNOMED CT concept]
- Increased circulating prolactin concentration [HPO term]
- hyperprolactinemia [MeSH Descriptor]
- hyperprolactinemia [MeSH concept]
- hyperprolactinemia [DO Concept]
- hyperprolactinemia [Disease (Nov.)]
Genes related to phenotype
- Prolactin receptor [OMIM gene]
HPO term(s)
- Agalactia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Galactorrhea [HPO term]
- Increased circulating prolactin concentration [HPO term]
- Infertility [HPO term]
- Menorrhagia [HPO term]
- Oligomenorrhea [HPO term]
ORDO concept(s)
- Familial hyperprolactinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HYPERPROLACTINAEMIA [WHO-ART Preferred Term]
- Hyperprolactinaemia [MedDRA Preferred Term]
- Hyperprolactinaemia [ICD-10 Sub-category (who)]
- Hyperprolactinaemia [ICD-11 Subcategory]
- Hyperprolactinemia [MedDRA LLT]
- Hyperprolactinemia [ICD-10 Sub-category]
- Hyperprolactinemia [PASCAL descriptor]
- Hyperprolactinemia [NCIt concept]
- Hyperprolactinemia (disorder) [SNOMED CT concept]
- Increased circulating prolactin concentration [HPO term]
- hyperprolactinemia [MeSH Descriptor]
- hyperprolactinemia [MeSH concept]
- hyperprolactinemia [DO Concept]
- hyperprolactinemia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Familial hyperprolactinemia [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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