MCID: NLS001
MIFTS: 48

Nelson Syndrome

Categories: Endocrine diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nelson Syndrome

MalaCards integrated aliases for Nelson Syndrome:

Name: Nelson Syndrome 12 77 54 60 56 45 15 74
Ridges-off-the-End Syndrome 54
Nelson's Syndrome 12
Dermal Ridges 54

Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:4968
MeSH 45 D009347
NCIt 51 C84917
SNOMED-CT 69 43019009
ICD10 34 E24.1
MESH via Orphanet 46 D009347
ICD10 via Orphanet 35 E24.1
UMLS via Orphanet 75 C0027577
Orphanet 60 ORPHA199244
UMLS 74 C0027577

Summaries for Nelson Syndrome

MalaCards based summary : Nelson Syndrome, also known as ridges-off-the-end syndrome, is related to bronchial adenomas/carcinoids childhood and acromegaly. An important gene associated with Nelson Syndrome is SST (Somatostatin), and among its related pathways/superpathways are Peptide ligand-binding receptors and Glucocorticoid receptor regulatory network. The drugs Pasireotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, skin and adrenal gland, and related phenotypes are adrenocorticotropic hormone excess and secondary hypercortisolism

Wikipedia : 77 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 111)
# Related Disease Score Top Affiliating Genes
1 bronchial adenomas/carcinoids childhood 30.2 POMC SST
2 acromegaly 29.9 POMC PRL SST
3 hyperprolactinemia 29.8 POMC PRL SST
4 adenoma 29.7 POMC PRL SST
5 pituitary tumors 29.7 POMC PRL SST
6 acth-secreting pituitary adenoma 29.3 CRH NR3C1 POMC PRL
7 conn's syndrome 28.6 CRH NR3C1 POMC PRL SST
8 hypohidrosis with abnormal palmar dermal ridges 12.5
9 dermal ridges, patternless 12.3
10 dermal ridges-off-the-end 12.2
11 dermal ridges, nelson syndrome 12.1
12 hand and foot deformity with flat facies 11.8
13 dermatoglyphics--arch on any digit 11.3
14 dubin-johnson syndrome 11.1
15 prolactin producing pituitary tumor 10.2 PRL SST
16 growth hormone secreting pituitary adenoma 10.2 PRL SST
17 pituitary adenoma 4, acth-secreting 10.2
18 pituitary adenoma 1, multiple types 10.2 PRL SST
19 bronchus adenoma 10.2 POMC SST
20 acidophil adenoma 10.1 POMC SST
21 pancreatic endocrine carcinoma 10.1 POMC SST
22 mccune-albright syndrome 10.1 PRL SST
23 ovarian serous adenofibroma 10.1 NR3C1 POMC
24 fibrous dysplasia 10.1 PRL SST
25 hyperaldosteronism, familial, type i 10.1 NR3C1 POMC
26 giant cell glioblastoma 10.1 MGMT PPARG
27 adenohypophysitis 10.1 POMC PRL
28 pituitary apoplexy 10.0 POMC PRL
29 sella turcica neoplasm 10.0 POMC PRL
30 acanthosis nigricans 10.0 PPARG PRL
31 tuberculum sellae meningioma 10.0 POMC PRL
32 empty sella syndrome 10.0 POMC PRL
33 cortisone reductase deficiency 10.0 NR3C1 POMC
34 abducens nerve disease 10.0 POMC PRL
35 diabetes insipidus, neurohypophyseal 10.0 POMC PRL
36 pancreas disease 10.0 POMC SST
37 chromophobe adenoma 10.0 POMC PRL
38 hypokalemia 10.0 NR3C1 POMC
39 allergic urticaria 10.0 CRH NR3C1
40 smith-magenis syndrome 10.0
41 carcinoid syndrome 10.0
42 adrenal rest tumor 10.0 POMC PRL
43 binswanger's disease 10.0 CRH SST
44 pituitary hormone deficiency, combined, 2 10.0 POMC PRL
45 gynecomastia 10.0 POMC PRL
46 pituitary adenoma 9.9
47 retinal detachment 9.9
48 chromosome 2q35 duplication syndrome 9.9
49 polydactyly 9.9
50 brachydactyly 9.9

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:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenocorticotropic hormone excess 60 33 obligate (100%) Obligate (100%) HP:0011749
2 secondary hypercortisolism 33 obligate (100%) HP:0011744
3 pituitary corticotropic cell adenoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0008291
4 increased urinary cortisol level 60 33 hallmark (90%) Very frequent (99-80%) HP:0012030
5 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
6 type ii diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0005978
7 hypokalemia 60 33 frequent (33%) Frequent (79-30%) HP:0002900
8 striae distensae 60 33 frequent (33%) Frequent (79-30%) HP:0001065
9 slow decrease in visual acuity 60 33 frequent (33%) Frequent (79-30%) HP:0007924
10 generalized hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007440
11 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
12 bitemporal hemianopia 60 33 frequent (33%) Frequent (79-30%) HP:0030521
13 abnormal kinetic perimetry test 60 33 frequent (33%) Frequent (79-30%) HP:0030591
14 increased intracranial pressure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002516
15 anterior hypopituitarism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000830
16 optic nerve compression 60 33 occasional (7.5%) Occasional (29-5%) HP:0007807
17 quadriceps muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009050
18 oculomotor nerve palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012246
19 diabetes insipidus 60 33 very rare (1%) Very rare (<4-1%) HP:0000873
20 intracranial hemorrhage 60 33 very rare (1%) Very rare (<4-1%) HP:0002170
21 testicular neoplasm 60 33 very rare (1%) Very rare (<4-1%) HP:0010788
22 prolactin excess 60 33 very rare (1%) Very rare (<4-1%) HP:0000870
23 pituitary carcinoma 60 33 very rare (1%) Very rare (<4-1%) HP:0011763
24 ocular pain 60 33 very rare (1%) Very rare (<4-1%) HP:0200026
25 abnormality of the sphenoid sinus 60 33 very rare (1%) Very rare (<4-1%) HP:0430022
26 visual impairment 60 Frequent (79-30%)
27 secondary hypercorticolism 60 Obligate (100%)
28 increased circulating cortisol level 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Nelson Syndrome:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.98 CRH MGMT NR3C1 POMC PPARG PRL
2 behavior/neurological MP:0005386 9.95 CRH NR3C1 POMC PPARG PRL SST
3 endocrine/exocrine gland MP:0005379 9.93 CRH MGMT NR3C1 POMC PPARG PRL
4 immune system MP:0005387 9.88 CRH NR3C1 POMC PPARG PRL SST
5 adipose tissue MP:0005375 9.8 CRH NR3C1 POMC PPARG
6 integument MP:0010771 9.77 CRH NR3C1 POMC PPARG PRL
7 liver/biliary system MP:0005370 9.72 CRH NR3C1 POMC PPARG PRL
8 nervous system MP:0003631 9.63 CRH NR3C1 POMC PPARG PRL SST
9 neoplasm MP:0002006 9.56 MGMT POMC PPARG PRL
10 no phenotypic analysis MP:0003012 9.43 CRH MGMT NR3C1 POMC PPARG SST
11 renal/urinary system MP:0005367 8.92 CRH NR3C1 POMC PPARG

Drugs & Therapeutics for Nelson Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pasireotide Approved Phase 2 396091-73-9 9941444
2
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
3 Adrenocorticotropic Hormone Phase 2
4 Hormone Antagonists Phase 2
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
6 Hormones 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 74 / NDF-RT 52 :


Cochrane evidence based reviews: nelson syndrome

Genetic Tests for Nelson Syndrome

Anatomical Context for Nelson Syndrome

MalaCards organs/tissues related to Nelson Syndrome:

42
Pituitary, Skin, Adrenal Gland, Testes, Thyroid, Pancreas, Cortex

Publications for Nelson Syndrome

Articles related to Nelson Syndrome:

(show all 19)
# Title Authors Year
1
Nelson Syndrome: Update on Therapeutic Approaches. ( 25683128 )
2015
2
Hormonal secretion and quality of life in Nelson syndrome and Cushing disease after long acting repeatable octreotide: a short series and update. ( 22820717 )
2014
3
Nelson syndrome: definition and management. ( 25248597 )
2014
4
Positron emission tomography-computed tomography coregistration for diagnosis and intraoperative localization in recurrent nelson syndrome. ( 23943718 )
2013
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 "total" adrenalectomy for Cushing syndrome. ( 171463 )
1975
18
Dissociation of plasma and spinal fluid ACTH in Nelson syndrome. ( 4362182 )
1974
19
Ridges-off-the-end syndrome in two families, and a third family with a new syndrome. ( 4742038 )
1973

Variations for Nelson Syndrome

Expression for Nelson Syndrome

Search GEO for disease gene expression data for Nelson Syndrome.

Pathways for Nelson Syndrome

GO Terms for Nelson Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.78 CRH POMC PPARG SST
2 regulation of signaling receptor activity GO:0010469 9.7 POMC PRL SST
3 negative regulation of cell death GO:0060548 9.51 CRH MGMT
4 response to estrogen GO:0043627 9.49 CRH PPARG
5 regulation of blood pressure GO:0008217 9.46 POMC PPARG
6 cellular response to dexamethasone stimulus GO:0071549 9.43 CRH NR3C1
7 response to immobilization stress GO:0035902 9.4 CRH PPARG
8 response to organic cyclic compound GO:0014070 9.37 MGMT PPARG
9 response to ethanol GO:0045471 9.26 CRH MGMT
10 response to nutrient GO:0007584 9.16 PPARG SST
11 parturition GO:0007567 9.02 CRH
12 hormone-mediated apoptotic signaling pathway GO:0008628 8.96 CRH SST
13 response to drug GO:0042493 8.92 CRH MGMT PPARG 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 nuclear receptor activity GO:0004879 8.96 NR3C1 PPARG
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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