MCID: NLS001
MIFTS: 46

Nelson Syndrome

Categories: Endocrine diseases, Rare diseases
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Aliases & Classifications for Nelson Syndrome

MalaCards integrated aliases for Nelson Syndrome:

Name: Nelson Syndrome 11 19 58 75 53 43 14 71 31 33
Nelson's Syndrome 11 75
Postadrenalectomy Cushing Syndrome 33
Ridges-off-the-End Syndrome 19
Dermal Ridges 19

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:4968
MeSH 43 D009347
NCIt 49 C84917
SNOMED-CT 68 43019009
ICD10 31 E24.1
MESH via Orphanet 44 D009347
ICD10 via Orphanet 32 E24.1
UMLS via Orphanet 72 C0027577
Orphanet 58 ORPHA199244
ICD11 33 1945677910
UMLS 71 C0027577

Summaries for Nelson Syndrome

Orphanet: 58 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.

MalaCards based summary: Nelson Syndrome, also known as nelson's syndrome, is related to central diabetes insipidus and diabetes insipidus. An important gene associated with Nelson Syndrome is POMC (Proopiomelanocortin), and among its related pathways/superpathways are Signal Transduction and Transcriptional Regulation by MECP2. The drugs Pasireotide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, skin and adrenal cortex, and related phenotypes are adrenocorticotropic hormone excess and secondary hypercortisolism

GARD: 19 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 inspidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.

Wikipedia: 75 Nelson's syndrome is a disorder that occurs in about one in four patients who have had both adrenal... more...

Related Diseases for Nelson Syndrome

Diseases related to Nelson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 central diabetes insipidus 30.6 PRL POMC
2 diabetes insipidus 30.6 PRL POMC CRH
3 empty sella syndrome 30.4 PRL POMC
4 premature ovarian failure 7 30.2 POMC CRH
5 amenorrhea 30.2 PRL POMC CRH
6 chromophobe adenoma 30.2 PRL POMC
7 abducens palsy 30.2 PRL POMC
8 cranial nerve palsy 30.1 PRL POMC
9 personality disorder 30.0 PRL NR3C1 CRH
10 pituitary tumors 30.0 SSTR5 SST PRL
11 pituitary apoplexy 30.0 SST PRL POMC
12 hyperprolactinemia 30.0 SST PRL POMC
13 adrenal carcinoma 30.0 SST POMC CRH
14 hypopituitarism 29.9 TBX19 PRL POMC CRH
15 pituitary hormone deficiency, combined, 2 29.8 PRL POMC
16 hypoglycemia 29.7 SST PRL POMC NR3C1 CRH
17 lipoid congenital adrenal hyperplasia 29.7 PRL POMC NR3C1 CRH
18 mccune-albright syndrome 29.7 USP8 SST PRL POMC
19 acromegaly 29.6 SSTR5 SST PRL POMC CRH
20 pituitary-dependent cushing's disease 29.5 USP8 USP48 SST PRL POMC NR3C1
21 adenoma 29.4 USP8 SSTR5 SST PRL POMC MGMT
22 pituitary adenoma 29.2 USP8 SSTR5 SST PRL POMC NR3C1
23 pituitary infarct 29.2 TBX19 SST PRL POMC CRH
24 conn's syndrome 28.7 USP8 USP48 TBX19 SST PRL PPARG
25 pituitary gland disease 28.4 USP8 TBX19 SSTR5 SST PRL POMC
26 pituitary cancer 27.9 USP8 USP48 TBX19 SSTR5 SST PRL
27 functioning pituitary adenoma 27.9 USP8 USP48 TBX19 SSTR5 SST PRL
28 acth-secreting pituitary adenoma 27.7 USP8 USP48 TBX19 SSTR5 SST PRL
29 dermal ridges-off-the-end 11.7
30 hand and foot deformity with flat facies 11.5
31 hypohidrosis with abnormal palmar dermal ridges 11.4
32 dubin-johnson syndrome 11.2
33 dermal ridges, nelson syndrome 11.1
34 pituitary adenoma 4, acth-secreting 10.3
35 bronchial adenomas/carcinoids childhood 10.3 SST POMC
36 functionless pituitary adenoma 10.3 SST POMC
37 waterhouse-friderichsen syndrome 10.3 POMC CRH
38 thyroid dyshormonogenesis 2a 10.2 SST POMC
39 tuberculum sellae meningioma 10.2 PRL POMC
40 somatization disorder 10.2 POMC CRH
41 sella turcica neoplasm 10.2 PRL POMC
42 alzheimer disease 16 10.2 POMC NR3C1
43 melanotic neurilemmoma 10.2 PRL POMC
44 neurotic disorder 10.2 POMC CRH
45 retrograde amnesia 10.2 POMC CRH
46 cranial nerve malignant neoplasm 10.2 SST POMC
47 pancreatic endocrine carcinoma 10.2 SST POMC
48 partial third-nerve palsy 10.2 PRL POMC
49 adjustment disorder 10.2 POMC CRH
50 ovarian serous adenofibroma 10.2 POMC NR3C1

Graphical network of the top 20 diseases related to Nelson Syndrome:



Diseases related to Nelson Syndrome

Symptoms & Phenotypes for Nelson Syndrome

Human phenotypes related to Nelson Syndrome:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenocorticotropic hormone excess 58 30 Obligate (100%) Obligate (100%)
HP:0011749
2 secondary hypercortisolism 30 Obligate (100%) HP:0011744
3 increased urinary cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012030
4 pituitary corticotropic cell adenoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008291
5 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
6 type ii diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
HP:0005978
7 hypokalemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002900
8 striae distensae 58 30 Frequent (33%) Frequent (79-30%)
HP:0001065
9 generalized hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007440
10 bitemporal hemianopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0030521
11 slow decrease in visual acuity 58 30 Frequent (33%) Frequent (79-30%)
HP:0007924
12 lower limb muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0007340
13 abnormal kinetic perimetry test 58 30 Frequent (33%) Frequent (79-30%)
HP:0030591
14 increased intracranial pressure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002516
15 anterior hypopituitarism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000830
16 oculomotor nerve palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012246
17 optic nerve compression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007807
18 quadriceps muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009050
19 diabetes insipidus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000873
20 intracranial hemorrhage 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002170
21 testicular neoplasm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010788
22 pituitary carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011763
23 increased circulating prolactin concentration 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000870
24 ocular pain 58 30 Very rare (1%) Very rare (<4-1%)
HP:0200026
25 abnormality of the sphenoid sinus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0430022
26 visual impairment 58 Frequent (79-30%)
27 increased circulating cortisol level 58 Very frequent (99-80%)
28 secondary hypercorticolism 58 Obligate (100%)

MGI Mouse Phenotypes related to Nelson Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.91 CABLES1 CRH MGMT NR3C1 POMC PPARG
2 no phenotypic analysis MP:0003012 9.8 CRH MGMT NR3C1 POMC PPARG SST
3 neoplasm MP:0002006 9.77 CABLES1 MGMT POMC PPARG PRL
4 homeostasis/metabolism MP:0005376 9.65 CRH MGMT NR3C1 POMC PPARG PRL
5 liver/biliary system MP:0005370 9.63 CRH NR3C1 POMC PPARG PRL USP8
6 endocrine/exocrine gland MP:0005379 9.28 CABLES1 CRH MGMT NR3C1 POMC PPARG

Drugs & Therapeutics for Nelson Syndrome

Drugs for Nelson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pasireotide Approved Phase 2 396091-73-9 56841596 9941444
2 Hormones Phase 2
3 Hormone Antagonists Phase 2
4 Adrenocorticotropic Hormone Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label, Multicenter, Single Arm Study of Pasireotide LAR in Patients With Rare Tumors of Neuroendocrine Origin Terminated NCT00958841 Phase 2 pasireotide LAR
2 An Open Label, Longitudinal Study of the Effects of Subcutaneous Acute and Chronic Pasireotide (som230) Therapy on Adrenocorticotrophic Hormone and Tumour Volume in Patients With Nelson's Syndrome Terminated NCT01617733 Phase 2 Pasireotide

Search NIH Clinical Center for Nelson Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cyproheptadine
Cyproheptadine hydrochloride
CYPROHEPTADINE HYDROCHLORIDE MONOHYDRATE

Cochrane evidence based reviews: nelson syndrome

Genetic Tests for Nelson Syndrome

Anatomical Context for Nelson Syndrome

Organs/tissues related to Nelson Syndrome:

MalaCards : Pituitary, Skin, Adrenal Cortex, Adrenal Gland, Kidney, Tongue, Brain

Publications for Nelson Syndrome

Articles related to Nelson Syndrome:

(show top 50) (show all 599)
# Title Authors PMID Year
1
No effect of the PPAR-gamma agonist rosiglitazone on ACTH or cortisol secretion in Nelson's syndrome and Cushing's disease in vitro and in vivo. 53 62
19919817 2009
2
Plasma galanin, vasopressin, and oxytocin in patients with Addison's disease. 53 62
17712724 2007
3
ACTH responses to somatostatin, valproic acid and dexamethasone in Nelson's syndrome. 53 62
16380696 2005
4
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency. 53 62
15679075 2005
5
The role of somatostatin analogs in Cushing's disease. 53 62
16132202 2004
6
Corticosteroid resistance and disease. 53 62
9073327 1997
7
Is there a role for somatostatin and its analogs in Cushing's syndrome? 53 62
8769391 1996
8
Somatostatin analogue treatment of neuroendocrine tumours. 53 62
8935599 1996
9
Nelson's syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor gene. 53 62
8550738 1996
10
Clinical and analytical evaluation of an immunoradiometric assay for corticotropin. 53 62
7600682 1995
11
Glucocorticosteroid resistance in humans. Elucidation of the molecular mechanisms and implications for pathophysiology. 53 62
7825890 1994
12
Expression of the prohormone convertase PC2 correlates with the presence of corticotropin-like intermediate lobe peptide in human adrenocorticotropin-secreting tumors. 53 62
7962350 1994
13
Long-term treatment of Nelson's syndrome by octreotide: a case report. 53 62
8006335 1994
14
Multiple forms of bioactive and immunoreactive adrenocorticotropin in human pituitary and blood of patients with Nelson's syndrome. 53 62
8393886 1993
15
Demonstration of pro-opiomelanocortin mRNA in pituitary adenomas and para-adenomatous gland in Cushing's disease and Nelson's syndrome. 53 62
8492226 1993
16
Structure of the POMC promoter region in pituitary and extrapituitary ACTH producing tumors. 53 62
8386673 1993
17
Radiation therapy of pituitary tumors: results in 95 cases. 53 62
1987733 1991
18
Corticotroph tumor progression after bilateral adrenalectomy: data from ERCUSYN. 62
36197784 2022
19
Management of Nelson's Syndrome. 62
36363537 2022
20
The Genomic Landscape of Corticotroph Tumors: From Silent Adenomas to ACTH-Secreting Carcinomas. 62
35563252 2022
21
Stereotactic radiosurgery for Nelson's syndrome: A meta-analysis and systematic review of clinical outcomes. 62
35031183 2022
22
Defining Wound Healing Progression in Cetacean Skin: Characteristics of Full-Thickness Wound Healing in Fraser's Dolphins (Lagenodelphis hosei). 62
35268108 2022
23
The Dermal Ridges as the Infallible Signature of Skin: An Overview. 62
35283510 2021
24
Gamma knife radiosurgery in patients with Nelson's syndrome. 62
33611756 2021
25
Prevalence of Nelson's syndrome after bilateral adrenalectomy in patients with cushing's disease: a systematic review and meta-analysis. 62
34036460 2021
26
Multivariable analysis of 63 contemporary patients diagnosed with nelson's syndrome: A nationwide readmission database study. 62
34509260 2021
27
Exceptional Response of Nelson's Syndrome to Pasireotide LAR in the Long-Term Follow-up of 9 Years. 62
33184804 2021
28
A new species of Leptobrachella (Anura, Megophryidae) from Mount Pu Ta Leng, northwest Vietnam. 62
34810445 2021
29
Association between Dermatoglyphics and Early Childhood Caries among Preschool Children: A Pilot Study. 62
34458116 2021
30
Stereotactic radiosurgery before bilateral adrenalectomy is associated with lowered risk of Nelson's syndrome in refractory Cushing's disease patients. 62
33759014 2021
31
Corticotroph tumor progression during long-term therapy with osilodrostat in a patient with persistent Cushing's disease. 62
33074401 2021
32
Updates in the outcomes of radiation therapy for Cushing's disease. 62
33814300 2021
33
High Prevalence of Adrenal Remnant Tissue in Patients Undergoing Bilateral Adrenalectomy for Cushing's Disease. 62
33091942 2021
34
Nelson Syndrome: Clival Invasion of Corticotroph Pituitary Adenoma Resulting in Alternating Sixth Nerve Palsies. 62
33394640 2021
35
Nelson Syndrome: A Case Report and Literature Review. 62
34095473 2021
36
Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations. 62
33444221 2021
37
Dermatoglyphics: A Noninvasive Diagnostic Tool in Predicting Class III Skeletal Malocclusion in Children. 62
34326586 2021
38
Aggressive Cushing's Disease: Molecular Pathology and Its Therapeutic Approach. 62
34220707 2021
39
Aggressive Pituitary Macroadenoma Treated With Capecitabine and Temozolomide Chemotherapy Combination in a Patient With Nelson's Syndrome: A Case Report. 62
34858324 2021
40
Rapid response of Nelson's syndrome to pasireotide in radiotherapy-naive patient. 62
33292741 2020
41
ACTH increment post total bilateral adrenalectomy for Cushing's disease: a consistent biosignature for predicting Nelson's syndrome. 62
32449103 2020
42
Nelson's Syndrome: An Update. 62
32741480 2020
43
A new species of Leptobrachella (Anura: Megophryidae) Smith, 1925 from Wuling Mountains in Hunan Province, China. 62
33055685 2020
44
Metastatic Pituitary Carcinoma Causing Cord Compression. 62
32289505 2020
45
Letting in Some Light on Nelson's Syndrome. 62
31853553 2020
46
Outcomes of Patients with Nelson's Syndrome after Primary Treatment: A Multicenter Study from 13 UK Pituitary Centers. 62
31735971 2020
47
The importance of landmarks in endoscopic endonasal reinterventions: the transpterygoid transcavernous approach. 62
31912353 2020
48
Cushing's syndrome - Disease monitoring: Recurrence, surveillance with biomarkers or imaging studies. 62
32139169 2020
49
THE NOVEL USE OF STEREOTACTIC RADIOTHERAPY FOR REMNANT ADRENAL TISSUE IN NELSON SYNDROME. 62
33163624 2020
50
Pituitary Adenoma Deposit in the Nasolabial Region Following Sublabial Transsphenoidal Surgery in the Setting of Nelson Syndrome. 62
31633667 2020

Variations for Nelson Syndrome

Expression for Nelson Syndrome

Search GEO for disease gene expression data for Nelson Syndrome.

Pathways for Nelson Syndrome

Pathways related to Nelson Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 13.21 USP8 SSTR5 SST PPARG POMC NR3C1
2
Show member pathways
11.99 SST PPARG CRH
3 11.29 TBX19 POMC CRH
4 11.02 PRL POMC NR3C1
5 10.94 PRL NR3C1
6
Show member pathways
10.87 POMC CRH
7 10.71 PPARG NR3C1
8 10.62 PRL POMC
9 9.47 POMC CRH

GO Terms for Nelson Syndrome

Biological processes related to Nelson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.35 SSTR5 PPARG POMC
2 positive regulation of miRNA transcription GO:1902895 9.1 PRL PPARG NR3C1

Molecular functions related to Nelson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.23 SST PRL POMC CRH

Sources for Nelson Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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