Non-acquired combined pituitary hormone deficiency
Synonyms: Congenital combined pituitary hormone deficiency · Congenital hypopituitarism
- Type
- Category
- Group
- Group of disorders
- Age of onset
- All ages
- Status
- active
A group of rare disorders characterized by multiple pituitary hormone deficiencies, including somatotropin, thyrotropin, lactotropin, corticotropin and gonadotropin deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Clinical presentation varies depending on the type and severity of the deficiencies as well as the age at diagnosis. If left untreated, the main symptoms include short stature, cognitive impairment and delayed puberty.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-acquired combined pituitary hormone deficiency | Congenital combined pituitary hormone deficiency · Congenital hypopituitarism |
| fr | Insuffisance hypophysaire multiple non acquise | Hypopituitarisme congénital · Insuffisance hypophysaire multiple congénitale |
| de | Hypophysenhormon-Mangel, kombinierter, nicht-erworbener | Hypophysenhormon-Mangel, kombinierter kongenitaler · Hypopituitarismus, kongenitaler |
| es | Deficiencia combinada no adquirida de hormonas hipofisarias | Deficiencia combinada congénita de hormonas hipofisarias |
| it | Deficit combinato non acquisito dell'ormone ipofisario | |
| nl | Niet-verworven gecombineerde hypofysehormoondeficiëntie | Congenitaal hypopituïtarisme · Congenitale gecombineerde hypofysehormoondeficiëntie |
| pt | Deficiência de hormona hipofisária combinada não-adquirida | Deficiência de hormona hipofisária combinada congénita · Hipopituitarismo congénito |
| pl | Nienabyty złożony Niedobór hormonów przysadki | Dziedziczny złożony Niedobór hormonów przysadki · Wrodzona niedoczynność przysadki |
| cs | Nezískaný kombinovaný deficit hypofyzárních hormonů | Vrozený hypopituitarismus · Vrozený kombinovaný deficit hypofyzárních hormonů |
| uk | Ненабутий комбінований дефіцит гормонів гіпофіза | Вроджений комбінований дефіцит гормонів гіпофіза · Вроджений гіпопітуїтаризм |
| zh | 非获得性联合垂体激素缺乏症 | 先天性联合垂体激素缺乏症 |
| tr | Edinsel olmayan kombine hipofiz hormon eksikliği | Doğumsal hipopituitarizm · Doğumsal kombine hipofiz hormonu eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018762 | E | validated | |
| MONDO | 18762 | E | validated | |
| UMLS | C5680091 | E | validated | |
| GARD | 2252 | 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 (1):
- ORPHA:95488Non-acquired pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 29 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | [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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/467
- This record as JSON: /data/d/467.json