Nelson syndrome

Summary

Nelson syndrome (MONDO:0016035) is a disease and 2 clinical trials. Top therapeutic interventions include pasireotide. A subtype of functioning pituitary gland adenoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 27
• Clinical trials: 2

Clinical features

Signs & symptoms

Clinical features (HPO)

27 HPO clinical features (Orphanet curated; top 27 by frequency):

HPO ID	Term	Frequency
HP:0011744	Secondary hypercorticolism	Obligate (100%)
HP:0011749	Adrenocorticotropic hormone excess	Obligate (100%)
HP:0003118	Increased circulating cortisol level	Very frequent (80-99%)
HP:0008291	Pituitary corticotropic cell adenoma	Very frequent (80-99%)
HP:0012030	Increased urinary cortisol level	Very frequent (80-99%)
HP:0000505	Visual impairment	Frequent (30-79%)
HP:0000822	Hypertension	Frequent (30-79%)
HP:0001065	Striae distensae	Frequent (30-79%)
HP:0002900	Hypokalemia	Frequent (30-79%)
HP:0005978	Type II diabetes mellitus	Frequent (30-79%)
HP:0007340	Lower limb muscle weakness	Frequent (30-79%)
HP:0007440	Generalized hyperpigmentation	Frequent (30-79%)
HP:0007924	Slow decrease in visual acuity	Frequent (30-79%)
HP:0030521	Bitemporal hemianopia	Frequent (30-79%)
HP:0030591	Abnormal kinetic perimetry test	Frequent (30-79%)
HP:0000830	Anterior hypopituitarism	Occasional (5-29%)
HP:0002516	Increased intracranial pressure	Occasional (5-29%)
HP:0007807	Optic nerve compression	Occasional (5-29%)
HP:0009050	Quadriceps muscle atrophy	Occasional (5-29%)
HP:0012246	Oculomotor nerve palsy	Occasional (5-29%)
HP:0000870	Increased circulating prolactin concentration	Very rare (<1-4%)
HP:0000873	Diabetes insipidus	Very rare (<1-4%)
HP:0002170	Intracranial hemorrhage	Very rare (<1-4%)
HP:0010788	Testicular neoplasm	Very rare (<1-4%)
HP:0011763	Pituitary carcinoma	Very rare (<1-4%)
HP:0200026	Ocular pain	Very rare (<1-4%)
HP:0430022	Abnormality of the sphenoid sinus	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Nelson syndrome
Mondo ID	MONDO:0016035
MeSH	C531754, D009347
Orphanet	199244
DOID	DOID:4968
ICD-10-CM	E24.1
ICD-11	1945677910
NCIT	C84917
SNOMED CT	43019009
UMLS	C1852159
MedGen	342174
GARD	0007170
MedDRA	10028913
NORD	1492
Is cancer (heuristic)	no

Also known as: dermal Ridges · Nelson’s syndrome · Ridges-off-the-end syndrome

Disease family

This is a subtype of functioning pituitary gland adenoma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › endocrine gland neoplasm › pituitary tumor › functioning pituitary gland neoplasm › functioning pituitary gland adenoma › Nelson syndrome

Related subtypes (4): TSH producing pituitary tumor, Cushing disease due to pituitary adenoma, mixed functioning pituitary adenoma, functioning gonadotropic adenoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00958841	PHASE2	TERMINATED	Study of Pasireotide in Patients With Rare Tumors of Neuroendocrine Origin
NCT01617733	PHASE2	TERMINATED	Pasireotide Therapy in Patients With Nelson’s Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PASIREOTIDE	4	1