MCID: NLS001
MIFTS: 49

Nelson Syndrome

Categories: Rare diseases, Endocrine diseases, Skin diseases

Aliases & Classifications for Nelson Syndrome

MalaCards integrated aliases for Nelson Syndrome:

Name: Nelson Syndrome 12 72 49 55 51 41 14 69
Ridges-off-the-End Syndrome 49
Nelson's Syndrome 12
Dermal Ridges 49

Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:4968
ICD10 32 E24.1
MeSH 41 D009347
NCIt 46 C84917
SNOMED-CT 64 190503006 43019009
Orphanet 55 ORPHA199244
MESH via Orphanet 42 D009347
UMLS via Orphanet 70 C0027577
ICD10 via Orphanet 33 E24.1
UMLS 69 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, and has symptoms including secondary hypercorticolism, adrenocorticotropic hormone excess and pituitary corticotropic cell adenoma. 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 behavior/neurological and homeostasis/metabolism

Wikipedia : 72 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 99)
# Related Disease Score Top Affiliating Genes
1 acromegaly 29.6 POMC PRL SST
2 pituitary tumors 29.4 POMC PRL SST
3 adrenal gland hyperfunction 28.0 CRH NR3C1 POMC PRL SST
4 hypohidrosis with abnormal palmar dermal ridges 12.3
5 dermal ridges, patternless 12.1
6 dermal ridges-off-the-end 12.1
7 dermal ridges, nelson syndrome 11.9
8 hand and foot deformity with flat facies 11.1
9 dubin-johnson syndrome 10.9
10 tsh producing pituitary tumor 10.2 PRL SST
11 pituitary adenoma 1, multiple types 10.2 PRL SST
12 prolactin producing pituitary tumor 10.2 PRL SST
13 growth hormone secreting pituitary adenoma 10.2 PRL SST
14 bronchus adenoma 10.2 POMC SST
15 bronchial adenomas/carcinoids childhood 10.2 POMC SST
16 acidophil adenoma 10.2 POMC SST
17 mccune-albright syndrome 10.2 PRL SST
18 fibrous dysplasia 10.2 PRL SST
19 endocrine pancreas disease 10.1 POMC SST
20 phaeochromocytoma 10.1 POMC SST
21 hyperaldosteronism, familial, type i 10.1 NR3C1 POMC
22 adenohypophysitis 10.1 POMC PRL
23 pancreas disease 10.1 POMC SST
24 apparent mineralocorticoid excess 10.1 NR3C1 POMC
25 pituitary apoplexy 10.1 POMC PRL
26 sella turcica neoplasm 10.1 POMC PRL
27 tuberculum sellae meningioma 10.1 POMC PRL
28 empty sella syndrome 10.1 POMC PRL
29 hypothyroidism, congenital, nongoitrous, 4 10.1 POMC PRL
30 central nervous system organ benign neoplasm 10.0 POMC PRL
31 pituitary adenoma 4, acth-secreting 10.0
32 sex differentiation disease 10.0 POMC PRL
33 diabetes insipidus, neurohypophyseal 10.0 POMC PRL
34 chromophobe adenoma 10.0 POMC PRL
35 pituitary hormone deficiency, combined, 2 10.0 POMC PRL
36 gynecomastia 10.0 POMC PRL
37 multiple endocrine neoplasia, type i 10.0 PRL SST
38 thyroid gland disease 10.0 POMC PRL
39 binswanger's disease 10.0 CRH SST
40 allergic urticaria 10.0 CRH NR3C1
41 female reproductive system disease 9.9 POMC PRL
42 hyperthyroidism 9.9 PRL SST
43 hyperandrogenism 9.9 POMC PRL
44 melancholia 9.9 CRH PRL
45 overnutrition 9.9 POMC PPARG
46 postpartum depression 9.9 CRH PRL
47 endogenous depression 9.9 CRH NR3C1
48 acth deficiency, isolated 9.8 CRH POMC
49 hypoadrenalism 9.8 CRH POMC
50 fasting hypoglycemia 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:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 secondary hypercorticolism 55 31 obligate (100%) Obligate (100%) HP:0011744
2 adrenocorticotropic hormone excess 55 31 obligate (100%) Obligate (100%) HP:0011749
3 pituitary corticotropic cell adenoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0008291
4 increased urinary cortisol level 55 31 hallmark (90%) Very frequent (99-80%) HP:0012030
5 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
6 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
7 striae distensae 55 31 frequent (33%) Frequent (79-30%) HP:0001065
8 hypokalemia 55 31 frequent (33%) Frequent (79-30%) HP:0002900
9 type ii diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0005978
10 lower limb muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0007340
11 generalized hyperpigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007440
12 slow decrease in visual acuity 55 31 frequent (33%) Frequent (79-30%) HP:0007924
13 bitemporal hemianopia 55 31 frequent (33%) Frequent (79-30%) HP:0030521
14 abnormal kinetic perimetry test 55 31 frequent (33%) Frequent (79-30%) HP:0030591
15 anterior hypopituitarism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000830
16 increased intracranial pressure 55 31 occasional (7.5%) Occasional (29-5%) HP:0002516
17 optic nerve compression 55 31 occasional (7.5%) Occasional (29-5%) HP:0007807
18 quadriceps muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009050
19 oculomotor nerve palsy 55 31 occasional (7.5%) Occasional (29-5%) HP:0012246
20 prolactin excess 55 31 very rare (1%) Very rare (<4-1%) HP:0000870
21 diabetes insipidus 55 31 very rare (1%) Very rare (<4-1%) HP:0000873
22 intracranial hemorrhage 55 31 very rare (1%) Very rare (<4-1%) HP:0002170
23 testicular neoplasm 55 31 very rare (1%) Very rare (<4-1%) HP:0010788
24 pituitary carcinoma 55 31 very rare (1%) Very rare (<4-1%) HP:0011763
25 ocular pain 55 31 very rare (1%) Very rare (<4-1%) HP:0200026
26 abnormality of the sphenoid sinus 55 31 very rare (1%) Very rare (<4-1%) HP:0430022
27 increased circulating cortisol level 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Nelson Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 NR3C1 PRL SST POMC CRH PPARG
2 homeostasis/metabolism MP:0005376 9.88 PRL NR3C1 SST POMC CRH PPARG
3 immune system MP:0005387 9.85 NR3C1 PRL SST POMC CRH PPARG
4 endocrine/exocrine gland MP:0005379 9.83 PRL NR3C1 POMC CRH PPARG
5 adipose tissue MP:0005375 9.78 NR3C1 POMC CRH PPARG
6 integument MP:0010771 9.72 NR3C1 PRL POMC CRH PPARG
7 liver/biliary system MP:0005370 9.65 POMC CRH PPARG NR3C1 PRL
8 nervous system MP:0003631 9.63 NR3C1 PRL SST POMC CRH PPARG
9 no phenotypic analysis MP:0003012 9.35 SST POMC CRH PPARG NR3C1
10 renal/urinary system MP:0005367 8.92 NR3C1 POMC CRH 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
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 69 / NDF-RT 47 :


Cochrane evidence based reviews: nelson syndrome

Genetic Tests for Nelson Syndrome

Anatomical Context for Nelson Syndrome

MalaCards organs/tissues related to Nelson Syndrome:

38
Pituitary, Skin, Adrenal Gland, Testes

Publications for Nelson Syndrome

Articles related to Nelson Syndrome:

(show all 17)
# 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
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
6
Low immunohistochemical expression of MGMT in ACTH secreting pituitary tumors of patients with Nelson syndrome. ( 21061089 )
2010
7
Gamma knife stereotactic radiosurgery of Nelson syndrome. ( 18996962 )
2009
8
Visual vignette. Nelson syndrome. ( 18753114 )
2008
9
Nelson syndrome: comprehensive review of pathophysiology, diagnosis, and management. ( 17961028 )
2007
10
Nelson syndrome: historical perspectives and current concepts. ( 17961024 )
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
Therapy for acromegaly, Cushing disease and Nelson syndrome. ( 7415173 )
1980
14
Treatment of acromegaly, Cushing disease and Nelson syndrome. ( 7415170 )
1980
15
Human adenohypophysis in Nelson syndrome. Ultrastructural and clinical study. ( 178289 )
1976
16
Cortisol secretion in Nelson syndrome: Persistence after "total" adrenalectomy for Cushing syndrome. ( 171463 )
1975
17
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 regulation of receptor activity GO:0010469 9.63 POMC PRL SST
2 G-protein coupled receptor signaling pathway GO:0007186 9.62 CRH POMC PPARG 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 9.43 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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