Nelson syndrome
- Type
- Clinical syndrome
- Group
- Disorder
- Age of onset
- Adult, Elderly
- Status
- active
A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nelson syndrome | |
| fr | Syndrome de Nelson | |
| de | Nelson-Syndrom | |
| es | Síndrome de Nelson | |
| it | Sindrome di Nelson | |
| nl | Syndroom van Nelson | |
| pt | Síndrome de Nelson | |
| pl | Zespół Nelsona | |
| cs | Nelsonův syndrom | |
| uk | Синдром Нельсона | |
| zh | 纳尔逊综合征 | |
| tr | Nelson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E24.1 | E | specific | validated |
| ICD-11 | 5A70.3 | E | specific | validated |
| MONDO | 0016035 | E | validated | |
| MeSH | D009347 | E | validated | |
| UMLS | C0027577 | E | validated | |
| GARD | 7170 | E | validated | |
| MedDRA | 10028913 | 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 (2):
- ORPHA:314753Functioning pituitary adenoma
rare endocrine diseases; rare neoplastic diseases - ORPHA:715120Hyperpituitarism
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
27 annotations · validated 2017-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011749 | Adrenocorticotropic hormone excess | |
| HP:0011744 | Secondary hypercorticolism | |
| Very frequent (99-80%) | ||
| HP:0003118 | Increased circulating cortisol level | |
| HP:0012030 | Increased urinary cortisol level | |
| HP:0008291 | Pituitary corticotropic cell adenoma | |
| Frequent (79-30%) | ||
| HP:0030591 | Abnormal kinetic perimetry test | |
| HP:0030521 | Bitemporal hemianopia | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000822 | Hypertension | |
| HP:0002900 | Hypokalemia | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0007924 | Slow decrease in visual acuity | |
| HP:0001065 | Striae distensae | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000830 | Anterior hypopituitarism | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0007807 | Optic nerve compression | |
| HP:0009050 | Quadriceps muscle atrophy | |
| Very rare (<4-1%) | ||
| HP:0430022 | Abnormality of the sphenoid sinus | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0200026 | Ocular pain | |
| HP:0011763 | Pituitary carcinoma | |
| HP:0010788 | Testicular neoplasm | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 17062771[PMID]_23539733[PMID]_21289243[PMID]_21131539[PMID]_18413427[PMID]_17263968[PMID]_12466338[PMID]_9231094[PMID]_8077377[PMID]_8393886[PMID]_1322426[PMID]_2841851[PMID]_2986564[PMID]_2981103[PMID]_6323516[PMID]_7072659[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199244
- This record as JSON: /data/d/199244.json