MCID: NLS001
MIFTS: 48

Nelson Syndrome

Categories: Rare diseases, Endocrine diseases, Skin diseases

Aliases & Classifications for Nelson Syndrome

MalaCards integrated aliases for Nelson Syndrome:

Name: Nelson Syndrome 12 76 53 59 55 44 15 73
Ridges-off-the-End Syndrome 53
Nelson's Syndrome 12
Dermal Ridges 53

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:4968
ICD10 33 E24.1
MeSH 44 D009347
NCIt 50 C84917
SNOMED-CT 68 190503006 43019009
Orphanet 59 ORPHA199244
MESH via Orphanet 45 D009347
ICD10 via Orphanet 34 E24.1
UMLS via Orphanet 74 C0027577
UMLS 73 C0027577

Summaries for Nelson Syndrome

MalaCards based summary : Nelson Syndrome, also known as ridges-off-the-end syndrome, is related to acromegaly and pituitary tumors. An important gene associated with Nelson Syndrome is SST (Somatostatin), and among its related pathways/superpathways are Peptide ligand-binding receptors and TGF-beta Signaling Pathways. The drugs Somatostatin and Adrenocorticotropic Hormone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, skin and adrenal gland, and related phenotypes are secondary hypercorticolism and adrenocorticotropic hormone excess

Wikipedia : 76 Nelson\'s syndrome is a rare disorder and occurs in patients who have had both adrenal glands removed... 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 102)
# Related Disease Score Top Affiliating Genes
1 acromegaly 29.4 POMC PRL SST
2 pituitary tumors 29.2 POMC PRL SST
3 adenoma 29.2 POMC PRL SST
4 conn's syndrome 28.6 CRH NR3C1 POMC
5 adrenal gland hyperfunction 27.0 CRH NR3C1 POMC PRL SST
6 hypohidrosis with abnormal palmar dermal ridges 12.3
7 dermal ridges-off-the-end 12.1
8 dermal ridges, nelson syndrome 11.9
9 hand and foot deformity with flat facies 11.0
10 dubin-johnson syndrome 10.9
11 tsh producing pituitary tumor 10.4 PRL SST
12 pituitary adenoma 1, multiple types 10.4 PRL SST
13 prolactin producing pituitary tumor 10.4 PRL SST
14 growth hormone secreting pituitary adenoma 10.3 PRL SST
15 bronchus adenoma 10.3 POMC SST
16 acidophil adenoma 10.3 POMC SST
17 mccune-albright syndrome 10.3 PRL SST
18 fibrous dysplasia 10.3 PRL SST
19 endocrine pancreas disease 10.2 POMC SST
20 pancreas disease 10.2 POMC SST
21 hyperaldosteronism, familial, type i 10.2 NR3C1 POMC
22 apparent mineralocorticoid excess 10.1 NR3C1 POMC
23 adenohypophysitis 10.1 POMC PRL
24 pituitary apoplexy 10.1 POMC PRL
25 sella turcica neoplasm 10.1 POMC PRL
26 tuberculum sellae meningioma 10.1 POMC PRL
27 empty sella syndrome 10.1 POMC PRL
28 hypothyroidism, congenital, nongoitrous, 4 10.1 POMC PRL
29 central nervous system organ benign neoplasm 10.1 POMC PRL
30 diabetes insipidus, neurohypophyseal 10.1 POMC PRL
31 acanthosis nigricans 10.1 PPARG PRL
32 sex differentiation disease 10.1 POMC PRL
33 primary pigmented nodular adrenocortical disease 10.1 NR3C1 POMC
34 chromophobe adenoma 10.1 POMC PRL
35 pituitary adenoma 4, acth-secreting 10.0
36 pituitary hormone deficiency, combined, 2 10.0 POMC PRL
37 hyperthyroidism 10.0 PRL SST
38 hypokalemia 10.0 NR3C1 POMC
39 gynecomastia 10.0 POMC PRL
40 thyroid gland disease 10.0 POMC PRL
41 binswanger's disease 10.0 CRH SST
42 allergic urticaria 10.0 CRH NR3C1
43 female reproductive system disease 9.9 POMC PRL
44 multiple endocrine neoplasia, type i 9.9 PRL SST
45 hyperandrogenism 9.9 POMC PRL
46 melancholia 9.9 CRH PRL
47 overnutrition 9.8 POMC PPARG
48 postpartum depression 9.8 CRH PRL
49 pituitary adenoma 9.8
50 acth deficiency, isolated 9.8 CRH POMC

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:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 secondary hypercorticolism 59 32 obligate (100%) Obligate (100%) HP:0011744
2 adrenocorticotropic hormone excess 59 32 obligate (100%) Obligate (100%) HP:0011749
3 pituitary corticotropic cell adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0008291
4 increased urinary cortisol level 59 32 hallmark (90%) Very frequent (99-80%) HP:0012030
5 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
6 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
7 striae distensae 59 32 frequent (33%) Frequent (79-30%) HP:0001065
8 hypokalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002900
9 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
10 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
11 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
12 slow decrease in visual acuity 59 32 frequent (33%) Frequent (79-30%) HP:0007924
13 bitemporal hemianopia 59 32 frequent (33%) Frequent (79-30%) HP:0030521
14 abnormal kinetic perimetry test 59 32 frequent (33%) Frequent (79-30%) HP:0030591
15 anterior hypopituitarism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000830
16 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
17 optic nerve compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0007807
18 quadriceps muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009050
19 oculomotor nerve palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012246
20 prolactin excess 59 32 very rare (1%) Very rare (<4-1%) HP:0000870
21 diabetes insipidus 59 32 very rare (1%) Very rare (<4-1%) HP:0000873
22 intracranial hemorrhage 59 32 very rare (1%) Very rare (<4-1%) HP:0002170
23 testicular neoplasm 59 32 very rare (1%) Very rare (<4-1%) HP:0010788
24 pituitary carcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0011763
25 ocular pain 59 32 very rare (1%) Very rare (<4-1%) HP:0200026
26 abnormality of the sphenoid sinus 59 32 very rare (1%) Very rare (<4-1%) HP:0430022
27 increased circulating cortisol level 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Nelson Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 CRH PPARG NR3C1 PRL SST POMC
2 homeostasis/metabolism MP:0005376 9.88 SST POMC CRH PPARG PRL NR3C1
3 immune system MP:0005387 9.85 POMC CRH PPARG NR3C1 PRL SST
4 endocrine/exocrine gland MP:0005379 9.83 POMC CRH PPARG NR3C1 PRL
5 adipose tissue MP:0005375 9.78 POMC CRH PPARG NR3C1
6 integument MP:0010771 9.72 POMC CRH PPARG NR3C1 PRL
7 liver/biliary system MP:0005370 9.65 CRH PPARG NR3C1 PRL POMC
8 nervous system MP:0003631 9.63 POMC CRH PPARG NR3C1 PRL SST
9 no phenotypic analysis MP:0003012 9.35 CRH PPARG NR3C1 SST POMC
10 renal/urinary system MP:0005367 8.92 POMC CRH PPARG NR3C1

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
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
2 Adrenocorticotropic Hormone Phase 2
3 Hormone Antagonists Phase 2
4 Hormones Phase 2
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pasireotide Therapy in Patients With Nelson's Syndrome Terminated NCT01617733 Phase 2 Pasireotide
2 Study of Pasireotide 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 73 / NDF-RT 51 :


Cochrane evidence based reviews: nelson syndrome

Genetic Tests for Nelson Syndrome

Anatomical Context for Nelson Syndrome

MalaCards organs/tissues related to Nelson Syndrome:

41
Pituitary, Skin, Adrenal Gland, Testes

Publications for Nelson Syndrome

Articles related to Nelson Syndrome:

(show all 18)
# Title Authors Year
1
Nelson Syndrome: Update on Therapeutic Approaches. ( 25683128 )
2015
2
Nelson syndrome: definition and management. ( 25248597 )
2014
3
Positron emission tomography-computed tomography coregistration for diagnosis and intraoperative localization in recurrent nelson syndrome. ( 23943718 )
2013
4
Hormonal Secretion and Quality Of Life in Nelson Syndrome and Cushing Disease After Long Acting Repeatable Octreotide: A Short Series and Update. ( 22820717 )
2012
5
Low immunohistochemical expression of MGMT in ACTH secreting pituitary tumors of patients with Nelson syndrome. ( 21061089 )
2010
6
Localization of remnant and ectopic adrenal tissues with cosyntropin-stimulated 18F-FDG-PET/CT in a patient with Nelson syndrome with persistent hypercortisolism. ( 21131539 )
2010
7
Gamma knife stereotactic radiosurgery of Nelson syndrome. ( 18996962 )
2009
8
Visual vignette. Nelson syndrome. ( 18753114 )
2008
9
Nelson syndrome: historical perspectives and current concepts. ( 17961024 )
2007
10
Nelson syndrome: comprehensive review of pathophysiology, diagnosis, and management. ( 17961028 )
2007
11
Regulation of body weight by proopiomelanocortin peptides in humans: lessons from the Nelson syndrome. ( 16061931 )
2005
12
Excessive testosterone production in a patient with Nelson syndrome and bilateral testicular tumors. ( 8860745 )
1996
13
[Incidence and clinical manifestation of ACTH-producing pituitary adenoma after bilateral adrenalectomy for Cushing's syndrome (Nelson syndrome)]. ( 7291959 )
1981
14
Treatment of acromegaly, Cushing disease and Nelson syndrome. ( 7415170 )
1980
15
Therapy for acromegaly, Cushing disease and Nelson syndrome. ( 7415173 )
1980
16
Human adenohypophysis in Nelson syndrome. Ultrastructural and clinical study. ( 178289 )
1976
17
Cortisol secretion in Nelson syndrome: Persistence after &amp;quot;total&amp;quot; adrenalectomy for Cushing syndrome. ( 171463 )
1975
18
Dissociation of plasma and spinal fluid ACTH in Nelson syndrome. ( 4362182 )
1974

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.62 CRH POMC PPARG SST
2 regulation of signaling receptor activity GO:0010469 9.61 POMC PRL SST
3 female pregnancy GO:0007565 9.49 CRH PRL
4 response to nutrient GO:0007584 9.48 PPARG SST
5 regulation of blood pressure GO:0008217 9.46 POMC PPARG
6 response to drug GO:0042493 9.43 CRH PPARG SST
7 response to estrogen GO:0043627 9.4 CRH PPARG
8 steroid hormone mediated signaling pathway GO:0043401 9.37 NR3C1 PPARG
9 cellular response to dexamethasone stimulus GO:0071549 9.16 CRH NR3C1
10 response to immobilization stress GO:0035902 8.96 CRH PPARG
11 hormone-mediated apoptotic signaling pathway GO:0008628 8.62 CRH SST

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

# Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.16 NR3C1 PPARG
2 neuropeptide hormone activity GO:0005184 8.96 CRH POMC
3 hormone activity GO:0005179 8.92 CRH POMC PRL SST

Sources for Nelson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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