ORPHA:314777
Familial isolated pituitary adenoma
Synonyms: FIPA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated pituitary adenoma | FIPA |
| fr | Adénome pituitaire isolé familial | = en |
| de | Hypophysenadenom, isoliertes familiäres | = en |
| es | Adenoma hipofisario aislado familiar | = en |
| it | Adenoma ipofisario isolato familiare | = en |
| nl | Familiaal geïsoleerd hypofyseadenoom | = en |
| pt | Adenoma hipofisário isolado familiar | = en |
| pl | Rodzinny izolowany gruczolak przysadki | = en |
| cs | Familiární izolovaný adenom hypofýzy | = en |
| uk | Сімейна ізольована аденома гіпофіза | = en |
| zh | 家族性孤立性垂体腺瘤 | FIPA病 |
| tr | Ailesel izole hipofiz adenomu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102200 | NTBT | validated | |
| OMIM | 617540 | BTNT | validated | |
| ICD-10 | D35.2 | NTBT | attributed | validated |
| ICD-11 | 2F37.Y | NTBT | attributed | validated |
| MONDO | 0017824 | E | validated | |
| MeSH | C566321 | E | validated | |
| UMLS | C2676191 | E | validated | |
| GARD | 10959 | 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 (2):
- ORPHA:715120Hyperpituitarism
rare endocrine diseases - ORPHA:99408Pituitary adenoma
rare endocrine diseases; rare neoplastic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AIP | Disease-causing germline mutation(s) in | Assessed | HGNC:358 | ENSG00000110711 | 605555 | 11q13.2 | AHR interacting HSP90 co-chaperone | 22720333[PMID] |
| CDH23 | Major susceptibility factor in | Assessed | HGNC:13733 | ENSG00000107736 | 605516 | 10q22.1 | cadherin related 23 | 28413019[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 22720333[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314777
- This record as JSON: /data/d/314777.json