MCID: NLS001
MIFTS: 44

Nelson Syndrome

Categories: Endocrine diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nelson Syndrome

MalaCards integrated aliases for Nelson Syndrome:

Name: Nelson Syndrome 12 73 20 58 54 44 15 70 32
Ridges-off-the-End Syndrome 20
Nelson's Syndrome 12
Dermal Ridges 20

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:4968
MeSH 44 D009347
NCIt 50 C84917
SNOMED-CT 67 43019009
ICD10 32 E24.1
MESH via Orphanet 45 D009347
ICD10 via Orphanet 33 E24.1
UMLS via Orphanet 71 C0027577
Orphanet 58 ORPHA199244
UMLS 70 C0027577

Summaries for Nelson Syndrome

MalaCards based summary : Nelson Syndrome, also known as ridges-off-the-end syndrome, is related to diabetes insipidus and hypopituitarism. An important gene associated with Nelson Syndrome is POMC (Proopiomelanocortin), and among its related pathways/superpathways are Peptide ligand-binding receptors and cAMP signaling pathway. The drugs Pasireotide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and adrenal gland, and related phenotypes are adrenocorticotropic hormone excess and secondary hypercortisolism

Wikipedia : 73 Nelson's syndrome is a rare disorder that sometimes occurs in patients who have had both adrenal glands... 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 163)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus 30.5 PRL POMC CRH
2 hypopituitarism 30.2 PRL POMC CRH
3 pituitary hormone deficiency, combined, 2 30.2 PRL POMC
4 abducens nerve disease 30.2 PRL POMC
5 chromophobe adenoma 30.1 PRL POMC
6 cranial nerve palsy 30.1 PRL POMC
7 empty sella syndrome 30.1 PRL POMC
8 amenorrhea 30.1 PRL POMC CRH
9 conn's syndrome 30.0 SST PRL POMC NR3C1 CRH
10 pituitary apoplexy 29.9 SST PRL POMC
11 adrenal carcinoma 29.9 SST POMC CRH
12 hyperprolactinemia 29.9 SST PRL POMC
13 pituitary tumors 29.6 SSTR5 SST PRL POMC
14 pituitary infarct 29.6 SST PRL POMC CRH
15 pituitary carcinoma 29.6 SST PRL POMC MGMT CRH
16 acromegaly 29.3 SSTR5 SST PRL POMC CRH
17 hypoglycemia 29.3 SST PRL POMC NR3C1 CRH
18 pituitary adenoma 29.1 USP8 SSTR5 SST PRL POMC CRH
19 adenoma 28.7 USP8 SSTR5 SST PRL POMC MGMT
20 pituitary-dependent cushing's disease 28.6 USP8 SST PRL POMC NR3C1 CRH
21 pituitary gland disease 28.5 USP8 SSTR5 SST PRL POMC CRH
22 acth-secreting pituitary adenoma 27.8 USP8 SSTR5 SST PRL POMC NR3C1
23 dermal ridges-off-the-end 11.7
24 hand and foot deformity with flat facies 11.4
25 hypohidrosis with abnormal palmar dermal ridges 11.4
26 dubin-johnson syndrome 11.0
27 dermal ridges, nelson syndrome 11.0
28 bronchial adenomas/carcinoids childhood 10.3 SST POMC
29 chiasmal syndrome 10.3 SST POMC
30 functionless pituitary adenoma 10.3 SST POMC
31 colon neuroendocrine neoplasm 10.2 SST POMC
32 adenohypophysitis 10.2 PRL POMC
33 tuberculum sellae meningioma 10.2 PRL POMC
34 sella turcica neoplasm 10.2 PRL POMC
35 somatization disorder 10.2 POMC CRH
36 fasting hypoglycemia 10.2 POMC CRH
37 dowling-degos disease 1 10.2
38 adjustment disorder 10.2 POMC CRH
39 alzheimer disease 16 10.2 POMC NR3C1
40 hypothyroidism, congenital, nongoitrous, 4 10.2 PRL POMC
41 inappropriate adh syndrome 10.2 POMC CRH
42 partial third-nerve palsy 10.2 PRL MGMT
43 binswanger's disease 10.2 SST CRH
44 benign essential hypertension 10.2 PRL POMC
45 sexual sadism 10.2 PRL CRH
46 abnormality of glucagon secretion 10.2 SST NR3C1
47 dysthymic disorder 10.2 POMC CRH
48 mixed cerebral palsy 10.2 PRL CRH
49 adrenal cortical hypofunction 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 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenocorticotropic hormone excess 58 31 obligate (100%) Obligate (100%) HP:0011749
2 secondary hypercortisolism 31 obligate (100%) HP:0011744
3 pituitary corticotropic cell adenoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0008291
4 increased urinary cortisol level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012030
5 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
6 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
7 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
8 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
9 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
10 bitemporal hemianopia 58 31 frequent (33%) Frequent (79-30%) HP:0030521
11 slow decrease in visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007924
12 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
13 abnormal kinetic perimetry test 58 31 frequent (33%) Frequent (79-30%) HP:0030591
14 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
15 anterior hypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000830
16 oculomotor nerve palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012246
17 optic nerve compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0007807
18 quadriceps muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009050
19 diabetes insipidus 58 31 very rare (1%) Very rare (<4-1%) HP:0000873
20 intracranial hemorrhage 58 31 very rare (1%) Very rare (<4-1%) HP:0002170
21 testicular neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0010788
22 pituitary carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0011763
23 increased circulating prolactin concentration 58 31 very rare (1%) Very rare (<4-1%) HP:0000870
24 ocular pain 58 31 very rare (1%) Very rare (<4-1%) HP:0200026
25 abnormality of the sphenoid sinus 58 31 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 CRH LAMTOR5 MGMT NR3C1 POMC PPARG
2 endocrine/exocrine gland MP:0005379 10.01 CRH LAMTOR5 MGMT NR3C1 POMC PPARG
3 growth/size/body region MP:0005378 9.97 CRH LAMTOR5 NR3C1 POMC PPARG SST
4 adipose tissue MP:0005375 9.83 CRH NR3C1 POMC PPARG SST
5 integument MP:0010771 9.73 CRH LAMTOR5 NR3C1 POMC PPARG PRL
6 liver/biliary system MP:0005370 9.63 CRH NR3C1 POMC PPARG PRL USP8
7 nervous system MP:0003631 9.56 CRH LAMTOR5 MGMT NR3C1 POMC PPARG
8 no phenotypic analysis MP:0003012 9.1 CRH MGMT NR3C1 POMC PPARG SST

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 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, 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
2 An Open Label, Multicenter, Single Arm Study of Pasireotide LAR in Patients With Rare Tumors of Neuroendocrine Origin Terminated NCT00958841 Phase 2 pasireotide LAR

Search NIH Clinical Center for Nelson Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Cyproheptadine
Cyproheptadine hydrochloride
CYPROHEPTADINE HYDROCHLORIDE MONOHYDRATE

Cochrane evidence based reviews: nelson syndrome

Genetic Tests for Nelson Syndrome

Anatomical Context for Nelson Syndrome

MalaCards organs/tissues related to Nelson Syndrome:

40
Pituitary, Thyroid, Adrenal Gland, Cortex, Colon, Breast, Skin

Publications for Nelson Syndrome

Articles related to Nelson Syndrome:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Clinical and analytical evaluation of an immunoradiometric assay for corticotropin. 54 61
7600682 1995
2
Nelson Syndrome: Clival Invasion of Corticotroph Pituitary Adenoma Resulting in Alternating Sixth Nerve Palsies. 61
33394640 2021
3
Metastatic Pituitary Carcinoma Causing Cord Compression. 61
32289505 2020
4
The importance of landmarks in endoscopic endonasal reinterventions: the transpterygoid transcavernous approach. 61
31912353 2020
5
THE NOVEL USE OF STEREOTACTIC RADIOTHERAPY FOR REMNANT ADRENAL TISSUE IN NELSON SYNDROME. 61
33163624 2020
6
Pituitary Adenoma Deposit in the Nasolabial Region Following Sublabial Transsphenoidal Surgery in the Setting of Nelson Syndrome. 61
31633667 2020
7
Synchronous bilateral adrenalectomy in ACTH-dependent hypercortisolism: predictors, biomarkers and outcomes. 61
31583577 2019
8
Radiotherapy as a tool for the treatment of Cushing's disease. 61
30970325 2019
9
Autologous Adrenal Transplantation for the Treatment of Refractory Cushing's Disease. 61
31434089 2019
10
LONG-TERM OUTCOME OF THE DIFFERENT TREATMENT ALTERNATIVES FOR RECURRENT AND PERSISTENT CUSHING DISEASE. 61
28332874 2017
11
Ectopic Adrenocorticotropic Hormone-Secreting Pituitary Adenomas: An Underestimated Entity. 61
27352274 2017
12
Nelson Syndrome: Update on Therapeutic Approaches. 61
25683128 2015
13
Outcomes in pituitary surgery in Nelson's syndrome--therapeutic pitfalls. 61
26662649 2015
14
Outcomes of proton therapy for patients with functional pituitary adenomas. 61
25194666 2014
15
Hormonal secretion and quality of life in Nelson syndrome and Cushing disease after long acting repeatable octreotide: a short series and update. 61
22820717 2014
16
Nelson syndrome: definition and management. 61
25248597 2014
17
Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population. 61
25350283 2014
18
Positron emission tomography-computed tomography coregistration for diagnosis and intraoperative localization in recurrent nelson syndrome. 61
23943718 2013
19
Pituitary tumor surgery: review of 3004 cases. 61
22732515 2013
20
Bilateral simultaneous laparoscopic adrenalectomy in Cushing's syndrome: safe, effective, and curative. 61
22192103 2012
21
Ghrelin immunoexpression in pituitary adenomas. 61
21340501 2011
22
Management of Cushing disease. 61
21301487 2011
23
Low immunohistochemical expression of MGMT in ACTH secreting pituitary tumors of patients with Nelson syndrome. 61
21061089 2010
24
Localization of remnant and ectopic adrenal tissues with cosyntropin-stimulated 18F-FDG-PET/CT in a patient with Nelson syndrome with persistent hypercortisolism. 61
21131539 2010
25
Role of adrenalectomy in recurrent Cushing's disease. 61
20819624 2010
26
[Nelson syndrome: a rare cause of generalized hyperpigmentation of the skin]. 61
20109395 2010
27
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. 54
19919817 2009
28
Gamma knife stereotactic radiosurgery of Nelson syndrome. 61
18996962 2009
29
Visual vignette. Nelson syndrome. 61
18753114 2008
30
Difficulties in diagnosis and management of ectopic Cushing syndrome. 61
18379368 2008
31
[Effects of adrenalectomy on the treatment of Cushing disease]. 61
18844054 2008
32
Plasma galanin, vasopressin, and oxytocin in patients with Addison's disease. 54
17712724 2007
33
Nelson syndrome: comprehensive review of pathophysiology, diagnosis, and management. 61
17961028 2007
34
Nelson syndrome: historical perspectives and current concepts. 61
17961024 2007
35
ACTH responses to somatostatin, valproic acid and dexamethasone in Nelson's syndrome. 54
16380696 2005
36
Regulation of body weight by proopiomelanocortin peptides in humans: lessons from the Nelson syndrome. 61
16061931 2005
37
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency. 54
15679075 2005
38
The role of somatostatin analogs in Cushing's disease. 54
16132202 2004
39
Stereotactic radiosurgery for hypersecreting pituitary tumors: part of a multimodality approach. 61
15669808 2003
40
Gamma knife radiosurgery in the treatment of Cushing disease: long-term results. 61
12507068 2002
41
Corticotroph carcinoma of the pituitary: a clinicopathological study. Report of four cases. 61
11838811 2002
42
Pituitary carcinoma: an ultrastructural study of eleven cases. 61
11465479 2001
43
[Contemporary trends in surgery of adrenal glands]. 61
10842961 2000
44
Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation. 61
9605918 1998
45
[Nelson-Syndrome: 20 years after bilateral adrenalectomy for Cushing's disease]. 61
9583102 1998
46
[Effect of corticotherapy on the course of a severe form of Nelson syndrome]. 61
9768042 1998
47
Corticosteroid resistance and disease. 54
9073327 1997
48
Is there a role for somatostatin and its analogs in Cushing's syndrome? 54
8769391 1996
49
Somatostatin analogue treatment of neuroendocrine tumours. 54
8935599 1996
50
Nelson's syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor gene. 54
8550738 1996

Variations for Nelson Syndrome

Expression for Nelson Syndrome

Search GEO for disease gene expression data for Nelson Syndrome.

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 signal transduction GO:0007165 9.88 SSTR5 PRL PPARG POMC NR3C1 CRH
2 G protein-coupled receptor signaling pathway GO:0007186 9.83 SSTR5 SST PPARG POMC CRH
3 response to drug GO:0042493 9.56 SST PPARG MGMT CRH
4 glucose homeostasis GO:0042593 9.5 SSTR5 PPARG POMC
5 response to immobilization stress GO:0035902 9.46 PPARG CRH
6 cellular response to glucocorticoid stimulus GO:0071385 9.37 SSTR5 NR3C1
7 hormone-mediated apoptotic signaling pathway GO:0008628 9.16 SST CRH
8 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.13 PRL PPARG NR3C1
9 cellular response to dexamethasone stimulus GO:0071549 8.8 USP8 NR3C1 CRH

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.92 SST PRL POMC CRH

Sources for Nelson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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