Pituitary deficiency due to Rathke cleft cysts
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pituitary deficiency due to Rathke cleft cysts | |
| fr | Déficit hypophysaire associé à un kyste de la poche de Rathke | |
| de | Hypophysenfunktionsstörung durch Zyste der Rathke-Tasche | |
| es | Deficiencia hipofisaria por quistes de la bolsa de Rathke | |
| it | Deficit ipofisario da cisti della tasca di Rathke | |
| nl | Hypofysedeficiëntie door gespleten cysten van Rathke | |
| pt | Deficiência pituitária por quistos da bolsa de Rathke | |
| pl | Niedoczynność przysadki spowodowana torbielą kieszonki Rathkego | |
| cs | Deficit hormonů hypofýzy způsobený cystami Rathkeho výchlipky | |
| uk | Гіпофізарний дефіцит внаслідок щілинних кіст Ратке | |
| zh | Rathke囊肿所致腺垂体功能减退 | |
| tr | Rathke yarık kistlerine bağlı hipofiz yetmezliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E23.6 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0019614 | E | validated | |
| UMLS | C5190782 | 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:95503Pituitary hormone deficiency of tumoral origin
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_21951110[PMID] |
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
24 annotations · validated 2017-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0040075 | Hypopituitarism | |
| Frequent (79-30%) | ||
| HP:0030591 | Abnormal kinetic perimetry test | |
| HP:0030521 | Bitemporal hemianopia | |
| HP:0012505 | Enlarged pituitary gland | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0007924 | Slow decrease in visual acuity | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | |
| HP:0000830 | Anterior hypopituitarism | |
| HP:0002315 | Headache | |
| HP:0000238 | Hydrocephalus | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0007807 | Optic nerve compression | |
| HP:0000871 | Panhypopituitarism | |
| HP:0008240 | Secondary growth hormone deficiency | |
| Very rare (<4-1%) | ||
| HP:0430022 | Abnormality of the sphenoid sinus | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000651 | Diplopia | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0004372 | Reduced consciousness | |
| HP:0030907 | Thunderclap headache | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 15739543[PMID]_26305621[PMID]_20509729[PMID]_28272259[PMID]_22969141[PMID]_22336224[PMID]_22099688[PMID]_22336224[PMID]_14264977[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91350
- This record as JSON: /data/d/91350.json