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 50 56 52 42 14 69
Ridges-off-the-End Syndrome 50
Nelson's Syndrome 12
Dermal Ridges 50

Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Nelson Syndrome

MalaCards based summary : Nelson Syndrome, also known as ridges-off-the-end syndrome, is related to hand and foot deformity with flat facies and dubin-johnson syndrome, 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 Aspirin and Ticlopidine have been mentioned in the context of this disorder. Affiliated tissues include heart, pituitary and testes, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 101)
id Related Disease Score Top Affiliating Genes
1 hand and foot deformity with flat facies 10.9
2 dubin-johnson syndrome 10.8
3 combined t cell and b cell immunodeficiency 10.4 PRL SST
4 water-clear cell adenoma 10.4 PRL SST
5 pituitary adenoma, prolactin-secreting 10.3 PRL SST
6 functioning pituitary adenoma 10.3 POMC SST
7 prolactin producing pituitary tumor 10.3 POMC SST
8 worth's syndrome 10.3 PRL SST
9 neurogenic arthropathy 10.2 POMC SST
10 paraganglioma 10.2 POMC SST
11 chondroma 10.2 POMC SST
12 hypoaldosteronism, congenital, due to cmo ii deficiency 10.2 NR3C1 POMC
13 north american indian childhood cirrhosis 10.2 NR3C1 POMC
14 aortic valve atresia 10.2 POMC PRL
15 olfactory nerve neoplasm 10.2 POMC PRL
16 osteoclast-like giant cell neoplasm of the pancreas 10.2 POMC PRL
17 vertebral artery occlusion 10.2 POMC PRL
18 lactic acidosis 10.2 POMC PRL
19 hypothyroidism, congenital, nongoitrous 4 10.2 POMC PRL
20 immune system organ benign neoplasm 10.1 POMC PRL
21 immunodeficiency, common variable, 5 10.1 PRL SST
22 persistent hyperplastic primary vitreous 10.1 NR3C1 POMC
23 retinitis pigmentosa 46 10.1 POMC PRL
24 sphingolipidosis 10.1 POMC PRL
25 diencephalic neoplasm 10.1 POMC PRL
26 molybdenum cofactor deficiency b 10.1 POMC PRL
27 capillary disease 10.1 POMC PRL
28 fibrolamellar carcinoma 10.1 POMC PRL
29 acute female pelvic peritonitis 10.1 POMC PRL
30 bladder cancer, childhood 10.0 CRH SST
31 skin meningioma 10.0 PRL SST
32 acute cervicitis 10.0 CRH NR3C1
33 spondylolysis 10.0 POMC PRL
34 pelvic muscle wasting 10.0 POMC PRL
35 lung cancer susceptibility 2 10.0 PRL SST
36 euthyroid sick syndrome 10.0 CRH PRL
37 inherited metabolic disorder 10.0 POMC PPARG
38 chronic dacryoadenitis 9.9 CRH PRL
39 hypoglycemic coma 9.9 CRH NR3C1
40 acromegaly 9.9
41 hypodermyasis 9.9 CRH POMC
42 febrile infection-related epilepsy syndrome 9.8 CRH POMC
43 dressler's syndrome 9.8 CRH POMC
44 hereditary multiple exostoses 9.8 CRH NR3C1
45 leprosy 6 9.8 POMC SST
46 autoimmune disease of central nervous system 9.8 CRH POMC
47 traumatic glaucoma 9.8 CRH POMC
48 african histoplasmosis 9.8 POMC PRL SST
49 lymphoepithelioma-like carcinoma 9.8 POMC PRL SST
50 protein s deficiency 9.8 POMC PRL SST

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:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 secondary hypercorticolism 56 32 obligate (100%) Obligate (100%) HP:0011744
2 adrenocorticotropic hormone excess 56 32 obligate (100%) Obligate (100%) HP:0011749
3 pituitary corticotropic cell adenoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0008291
4 increased urinary cortisol level 56 32 hallmark (90%) Very frequent (99-80%) HP:0012030
5 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
6 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
7 striae distensae 56 32 frequent (33%) Frequent (79-30%) HP:0001065
8 hypokalemia 56 32 frequent (33%) Frequent (79-30%) HP:0002900
9 type ii diabetes mellitus 56 32 frequent (33%) Frequent (79-30%) HP:0005978
10 lower limb muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0007340
11 generalized hyperpigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007440
12 slow decrease in visual acuity 56 32 frequent (33%) Frequent (79-30%) HP:0007924
13 bitemporal hemianopia 56 32 frequent (33%) Frequent (79-30%) HP:0030521
14 abnormal kinetic perimetry test 56 32 frequent (33%) Frequent (79-30%) HP:0030591
15 anterior hypopituitarism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000830
16 increased intracranial pressure 56 32 occasional (7.5%) Occasional (29-5%) HP:0002516
17 optic nerve compression 56 32 occasional (7.5%) Occasional (29-5%) HP:0007807
18 quadriceps muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009050
19 oculomotor nerve palsy 56 32 occasional (7.5%) Occasional (29-5%) HP:0012246
20 prolactin excess 56 32 very rare (1%) Very rare (<4-1%) HP:0000870
21 diabetes insipidus 56 32 very rare (1%) Very rare (<4-1%) HP:0000873
22 intracranial hemorrhage 56 32 very rare (1%) Very rare (<4-1%) HP:0002170
23 testicular neoplasm 56 32 very rare (1%) Very rare (<4-1%) HP:0010788
24 pituitary carcinoma 56 32 very rare (1%) Very rare (<4-1%) HP:0011763
25 ocular pain 56 32 very rare (1%) Very rare (<4-1%) HP:0200026
26 abnormality of the sphenoid sinus 56 32 very rare (1%) Very rare (<4-1%) HP:0430022
27 increased circulating cortisol level 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Nelson Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 PPARG PRL SST CRH NR3C1 POMC
2 homeostasis/metabolism MP:0005376 9.88 CRH NR3C1 POMC PPARG PRL SST
3 immune system MP:0005387 9.85 CRH NR3C1 POMC PPARG PRL SST
4 endocrine/exocrine gland MP:0005379 9.83 PRL CRH NR3C1 POMC PPARG
5 adipose tissue MP:0005375 9.78 CRH NR3C1 POMC PPARG
6 integument MP:0010771 9.72 CRH NR3C1 POMC PPARG PRL
7 liver/biliary system MP:0005370 9.65 CRH NR3C1 POMC PPARG PRL
8 nervous system MP:0003631 9.63 CRH NR3C1 POMC PPARG PRL SST
9 no phenotypic analysis MP:0003012 9.35 CRH NR3C1 POMC PPARG SST
10 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 top 50) (show all 110)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
2
Ticlopidine Approved Phase 3 55142-85-3 5472
3
Rivaroxaban Approved Phase 3 366789-02-8
4
Eptifibatide Approved, Investigational Phase 3 188627-80-7 123610
5
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
6
Apixaban Approved Phase 3 503612-47-3 10182969
7
Clopidogrel Approved, Nutraceutical Phase 3 120202-66-6, 113665-84-2 60606
8
Dalcetrapib Investigational Phase 3 211513-37-0 6918540
9 Neurotransmitter Agents Phase 3
10 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2
11 Analgesics Phase 3
12 Analgesics, Non-Narcotic Phase 3
13 Anti-Inflammatory Agents Phase 3,Phase 1,Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 3
15 Antipyretics Phase 3
16 Antirheumatic Agents Phase 3,Phase 1,Phase 2
17 Cyclooxygenase Inhibitors Phase 3
18 Cytochrome P-450 Enzyme Inhibitors Phase 3
19 Fibrinolytic Agents Phase 3
20 Platelet Aggregation Inhibitors Phase 3
21 Prasugrel hydrochloride Phase 3 389574-19-0
22 Purinergic P2 Receptor Antagonists Phase 3
23 Purinergic P2Y Receptor Antagonists Phase 3
24 Anticholesteremic Agents Phase 3
25 Antimetabolites Phase 3,Phase 2,Phase 1
26 Hypolipidemic Agents Phase 3
27 Lipid Regulating Agents Phase 3
28 Anticoagulants Phase 3
29 Antithrombin III Phase 3
30 Antithrombins Phase 3
31 Factor Xa Inhibitors Phase 3
32 HIV Protease Inhibitors Phase 3
33
protease inhibitors Phase 3
34 Serine Proteinase Inhibitors Phase 3
35 calcium heparin Phase 3
36 Calcium, Dietary Phase 3
37
Otamixaban Phase 3 193153-04-7
38 Pharmaceutical Solutions Phase 3
39 Antibodies Phase 3
40 Immunoglobulins Phase 3
41 Antibodies, Monoclonal Phase 3
42 serine Nutraceutical Phase 3
43
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
44
Busulfan Approved, Investigational Phase 2 55-98-1 2478
45
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
46
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
47
Daunorubicin Approved Phase 2 20830-81-3 30323
48
Decitabine Approved, Investigational Phase 2 2353-33-5 451668
49
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
50
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035

Interventional clinical trials:

(show all 26)

id Name Status NCT ID Phase Drugs
1 A Comparison of Prasugrel and Clopidogrel in Acute Coronary Syndrome Subjects Completed NCT00699998 Phase 3 Clopidogrel;Prasugrel;Commercially-available Aspirin
2 A Study of RO4607381 in Stable Coronary Heart Disease Patients With Recent Acute Coronary Syndrome Completed NCT00658515 Phase 3 Dalcetrapib (RO4607381);Evidence-based medical care for Acute Coronary Syndrome;Placebo
3 An Efficacy and Safety Study for Rivaroxaban in Patients With Acute Coronary Syndrome Completed NCT00809965 Phase 3 Rivaroxaban 2.5 mg;Rivaroxaban 5 mg;Placebo;Standard of care
4 A Study With Aleglitazar in Patients With a Recent Acute Coronary Syndrome and Type 2 Diabetes Mellitus Completed NCT01042769 Phase 3 Aleglitazar;Placebo
5 Effect of Otamixaban Versus Unfractionated Heparin + Eptifibatide in Patients With Unstable Angina/Non ST Elevation Myocardial Infarction Undergoing Early Invasive Strategy Completed NCT01076764 Phase 3 Otamixaban;Placebo (for Otamixaban);UFH;Placebo (for UFH);Eptifibatide;Placebo (for Eptifibatide)
6 Effect of Dalcetrapib vs Placebo on CV Risk in a Genetically Defined Population With a Recent ACS Recruiting NCT02525939 Phase 3 dalcetrapib;Placebo
7 ODYSSEY Outcomes: Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab Active, not recruiting NCT01663402 Phase 3 alirocumab;Placebo
8 Phase III Acute Coronary Syndrome Terminated NCT00831441 Phase 3 Apixaban;Placebo
9 Study of Molecular and Genetic Abnormalities in Patients With Myeloid Neoplasms Completed NCT02084563 Phase 2 Induction Chemotherapy;Consolidation Chemotherapy;Autologous Stem Cell Transplantation;Allogeneic Stem Cell Transplantation;Low Dose Cytarabine;Decitabine
10 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
11 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
12 Pasireotide Therapy in Patients With Nelson's Syndrome Terminated NCT01617733 Phase 2 Pasireotide
13 Study of Pasireotide in Patients With Rare Tumors of Neuroendocrine Origin Terminated NCT00958841 Phase 2 pasireotide LAR
14 Safety Study of Autologous Umbilical Cord Blood Cells for Treatment of Hypoplastic Left Heart Syndrome Recruiting NCT01883076 Phase 1
15 Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani Syndrome Unknown status NCT00564707
16 Amyloid Plaque and Tangle Imaging in Alzheimer's Disease and Down Syndrome Unknown status NCT00965835
17 Prevalence of Metabolic Syndrome in Patients With Intermittent Claudication Completed NCT00946868
18 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
19 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
20 Psychological Morbidity and Facial Volume in HIV Lipodystrophy: Quantification of Treatment Outcome Completed NCT01359917
21 Pediatric Enhanced Surveillance Study Completed NCT02043769
22 Use of a Peptide-based Formula in an Adult Population Completed NCT02750787
23 A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation Recruiting NCT01708863
24 ATI Evidence-based Guide Investigating Clinical Services Recruiting NCT02285868
25 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
26 The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry Terminated NCT01187524

Search NIH Clinical Center for Nelson Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: nelson syndrome

Genetic Tests for Nelson Syndrome

Anatomical Context for Nelson Syndrome

MalaCards organs/tissues related to Nelson Syndrome:

39
Heart, Pituitary, Testes, Myeloid

Publications for Nelson Syndrome

Articles related to Nelson Syndrome:

(show all 17)
id 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
Treatment of acromegaly, Cushing disease and Nelson syndrome. ( 7415170 )
1980
14
Therapy for acromegaly, Cushing disease and Nelson syndrome. ( 7415173 )
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:

id Name GO ID Score Top Affiliating Genes
1 female pregnancy GO:0007565 9.46 CRH PRL
2 response to nutrient GO:0007584 9.43 PPARG SST
3 response to drug GO:0042493 9.43 CRH PPARG SST
4 regulation of blood pressure GO:0008217 9.4 POMC PPARG
5 response to estrogen GO:0043627 9.37 CRH PPARG
6 steroid hormone mediated signaling pathway GO:0043401 9.32 NR3C1 PPARG
7 cellular response to dexamethasone stimulus GO:0071549 9.16 CRH NR3C1
8 response to immobilization stress GO:0035902 8.96 CRH PPARG
9 hormone-mediated apoptotic signaling pathway GO:0008628 8.62 CRH SST

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

id Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.16 NR3C1 PPARG
2 hormone activity GO:0005179 8.92 CRH POMC PRL SST
3 neuropeptide hormone activity GO:0005184 8.65 CRH

Sources for Nelson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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