MCID: EMP001
MIFTS: 40

Empty Sella Syndrome malady

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Empty Sella Syndrome

Aliases & Descriptions for Empty Sella Syndrome:

Name: Empty Sella Syndrome 12 50 51 42 14 69
Empty Sella Turcica 50
Empty Sella 52

Classifications:



External Ids:

Disease Ontology 12 DOID:3642
MeSH 42 D004652
NCIt 47 C84686
UMLS 69 C0014008

Summaries for Empty Sella Syndrome

NINDS : 51 Empty Sella Syndrome (ESS) is a disorder that involves the , a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is often discovered during radiological imaging tests for pituitary disorders. ESS occurs n up to 25 percent of the population.An individual with ESS may have no symptoms or may have symptoms resulting from partial or complete loss of pituitary function (including headaches, low sex drive, and impotence). There are two types of ESS: primary and secondary. Primary ESS happens when a small anatomical defect above the pituitary gland allows spinal fluid to partially or completely fill the sella turcica. This causes the gland to flatten out along the interior walls of the sella turcica cavity. Individuals with primary ESS may have high levels of the hormone prolactin, which can interfere with the normal function of the testicles and ovaries. Primary ESS is most common in adults and women, and is often associated with obesity and high blood pressure. In some instances the pituitary gland may be smaller than usual; this may be due to a condition called pseudotumor cerebri (which means "false brain tumor," brought on by high pressure within the skull),  In rare instances this high fluid pressure can be associated with drainage of spinal fluid through the nose. Secondary ESS is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS can sometimes have symptoms that reflect the loss of pituitary functions, such as the ceasing of menstrual periods, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure.

MalaCards based summary : Empty Sella Syndrome, also known as empty sella turcica, is related to mucopolysaccharidosis type vi and pituitary deficiency due to empty sella turcica syndrome. An important gene associated with Empty Sella Syndrome is PRL (Prolactin), and among its related pathways/superpathways are Peptide ligand-binding receptors and PI3K-Akt signaling pathway. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and testes, and related phenotypes are endocrine/exocrine gland and liver/biliary system

NIH Rare Diseases : 50 empty sella syndrome (ess) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. there is a primary and secondary form of the condition. the primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. the secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. some people with ess have no symptoms. people with secondary ess may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. in children, ess may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. treatment focuses on the symptoms present in each person. last updated: 7/14/2014

Wikipedia : 71 Empty sella syndrome (abbreviated ESS) is where the pituitary gland shrinks or becomes flattened,... more...

Related Diseases for Empty Sella Syndrome

Diseases related to Empty Sella Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 142)
id Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis type vi 29.6 GH1 POMC PRL
2 pituitary deficiency due to empty sella turcica syndrome 12.3
3 craniofacial anomalies and anterior segment dysgenesis syndrome 11.2
4 intracranial hypertension, idiopathic 11.0
5 7q11.23 duplication syndrome 10.2 GH1 PRL
6 wheat allergy 10.2 POMC PRL
7 pancreatic colloid cystadenoma 10.2 POMC PRL
8 grin2a-related speech disorders and epilepsy 10.2 GH1 PRL
9 nonparalytic poliomyelitis 10.2 POMC PRL
10 cerebral hemisphere lipoma 10.2 GH1 PRL
11 bone benign neoplasm 10.1 POMC PRL
12 glaucoma, hereditary adult type 1a 10.1 GH1 PRL
13 hyperlipoproteinemia type iii 10.1 INS POMC
14 macrocephaly, benign familial 10.1 GH1 POMC
15 adenoma 10.1
16 cockayne syndrome type i 10.1 INS PRL
17 osseous heteroplasia, progressive 10.1 GH1 PRL
18 acute laryngitis 10.1 POMC PRL
19 plasmalogens synthesis deficiency isolated 10.1 GH1 PRL
20 gershoni-baruch syndrome 10.1 PRL TRH
21 hypogonadism cardiomyopathy 10.1 GH1 POMC
22 esophagus squamous cell papilloma 10.1 POMC PRL
23 growth retardation hydrocephaly lung hypoplasia 10.1 INS PRL
24 capillary disease 10.1 POMC PRL
25 pituitary adenoma 10.1
26 hypopituitarism 10.1
27 endometrial mixed adenocarcinoma 10.1 POMC TRH
28 basal ganglia cerebrovascular disease 10.1 INS POMC
29 acth deficiency 10.1
30 axial osteomalacia 10.1 GH1 PRL
31 hyperprolactinemia 10.0
32 acromegaly 10.0
33 diabetes insipidus 10.0
34 intracranial hypertension 10.0
35 hypothyroidism, congenital, nongoitrous, 1 10.0 INS TRH
36 endometriosis 10.0 GNRH1 PRL
37 diverticulitis 10.0 GNRH1 PRL
38 transmitted_by 10.0 POMC PRL
39 neurogenic arthropathy 10.0 INS POMC
40 dacryoadenitis 10.0 INS POMC PRL
41 caudal regression syndrome 10.0 GH1 POMC PRL
42 merkel cell carcinoma 10.0 INS POMC PRL
43 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.0 GH1 POMC PRL
44 rheumatic encephalitis 10.0 GH1 POMC PRL
45 fatty liver disease 10.0 INS POMC PRL
46 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.0 GH1 POMC PRL
47 critical congenital heart disease 10.0 GH1 GNRH1
48 pituitary apoplexy 10.0
49 amenorrhea 10.0
50 hypothyroidism 10.0

Graphical network of the top 20 diseases related to Empty Sella Syndrome:



Diseases related to Empty Sella Syndrome

Symptoms & Phenotypes for Empty Sella Syndrome

MGI Mouse Phenotypes related to Empty Sella Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.35 GNRH1 INS POMC PRL TRH
2 liver/biliary system MP:0005370 8.92 GNRH1 INS POMC PRL

Drugs & Therapeutics for Empty Sella Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists
2 Hormones
3 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


id Name Status NCT ID Phase
1 Growth Hormone Deficiency and Empty Sella Cardio-Metabolic Risk Factors in Obesity: a Cross-Sectional Study Completed NCT02092779
2 Da Vinci Transoral Robotic-assisted Surgery of Pituitary Gland Recruiting NCT02743442

Search NIH Clinical Center for Empty Sella Syndrome

Cochrane evidence based reviews: empty sella syndrome

Genetic Tests for Empty Sella Syndrome

Anatomical Context for Empty Sella Syndrome

MalaCards organs/tissues related to Empty Sella Syndrome:

39
Pituitary, Brain, Testes, Ovary, Thyroid, Bone

Publications for Empty Sella Syndrome

Articles related to Empty Sella Syndrome:

(show top 50) (show all 192)
id Title Authors Year
1
Ectopic Acromegaly Arising from a Pituitary Adenoma within the Bony Intersphenoid Septum of a Patient with Empty Sella Syndrome. ( 27468406 )
2016
2
Psychosis in Secondary Empty Sella Syndrome following a Russell's Viper Bite. ( 27335524 )
2016
3
A Case Report of Late Onset Mania Caused by Hyponatremia in a Patient With Empty Sella Syndrome. ( 26871784 )
2016
4
VISUAL VIGNETTES-PERSISTENT HEADACHES WITH APPARENT EMPTY SELLA SYNDROME. ( 27967223 )
2016
5
Visual Deterioration and Herniation of the Anterior Cerebral Artery: Unusual Presentation of an Empty Sella Syndrome Complicating Decompression of a Rathke Cleft Cyst. ( 26828843 )
2016
6
Empty sella syndrome in a male child with failure to thrive. ( 25878744 )
2015
7
A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome. ( 25572312 )
2015
8
Symptomatic empty sella syndrome: an unusual manifestation of Erdheim-Chester disease. ( 25810917 )
2015
9
Extra-Pontine Myelinolysis in a Case of Pan-hypopituitarism Due to Empty Sella Syndrome. ( 27608705 )
2015
10
Partial empty sella syndrome: a case report and review. ( 24757313 )
2014
11
Effect of primary empty sella syndrome on pituitary surgery for Cushing's disease. ( 24857241 )
2014
12
Septal cartilage plug technique in spontaneous cerebrospinal fluid rhinorrhea postoperatively diagnosed with partial empty sella syndrome. ( 24911604 )
2014
13
Osteoporotic fractures and persistent non-fusion of the hand epiphyses caused by empty sella syndrome in an adult: a case report. ( 24029021 )
2013
14
Empty sella syndrome - beyond being an incidental finding. ( 23565413 )
2012
15
Empty sella syndrome. ( 23304808 )
2012
16
Persistence of primary empty sella syndrome despite obesity surgery: report of two unusual cases. ( 22725713 )
2012
17
Empty sella syndrome presented with arthritis. ( 20052477 )
2011
18
Empty sella syndrome in thyroid cancer survivor. ( 21837937 )
2011
19
Precocious puberty and empty sella syndrome in a girl cured of acute lymphoblastic leukemia. ( 22308868 )
2011
20
Transsphenoidal treatment of secondary empty sella syndrome using low field strength intraoperative MRI: case report. ( 21132613 )
2010
21
Diagnostic dilemmas in a patient with anaemia. Empty sella syndrome--a case report. ( 20806186 )
2010
22
Primary pituitary abscess followed by empty sella syndrome in an adolescent girl. ( 18953655 )
2010
23
A case of hypothalamic panhypopituitarism with empty sella syndrome: case report and review of the literature. ( 19352054 )
2009
24
A new visual field test in empty sella syndrome: rarebit perimetry. ( 18609487 )
2008
25
Empty sella syndrome associated with a hyperfunctioning microadenoma invading the clivus. ( 18071980 )
2007
26
Visual vignette. Empty sella syndrome with central hypothyroidism and hypogonadism. ( 17599868 )
2007
27
Profound vasodilatory hypotension in a patient with known empty sella syndrome following cardiac surgery. ( 17635438 )
2007
28
Empty sella syndrome, hyperadrenocorticism and megaoesophagus in a dachshund. ( 17608665 )
2007
29
Cardiac tamponade under thyroid hormone replacement therapy in a patient with empty sella syndrome. ( 17143379 )
2006
30
Endocrine disturbances in empty sella syndrome: case reports and review of literature. ( 15901528 )
2005
31
Primary empty sella syndrome in a series of 142 patients. ( 16304986 )
2005
32
Endonasal endoscopic transsphenoidal chiasmapexy with silicone plates for empty sella syndrome: technical note. ( 16127264 )
2005
33
Empty sella syndrome, panhypopituitarism, and diabetes insipidus. ( 16338880 )
2005
34
Treatment of empty sella syndrome with ventriculoperitoneal shunt. ( 15749434 )
2005
35
Supplementary comment on "Endonasal endoscopic transsphenoidal chiasmapexy with silicone plates for empty sella syndrome--technical note--". ( 16195653 )
2005
36
No evidence for autoimmunity as a major cause of the empty sella syndrome. ( 15146367 )
2004
37
Coexisting acromegaly and primary empty sella syndrome. ( 15361823 )
2004
38
Primary empty sella syndrome. ( 12900138 )
2003
39
Spontaneous nasal cerebrospinal fluid leaks and empty sella syndrome: a clinical association. ( 12751703 )
2003
40
Treating hyponatremia in an empty sella syndrome patient complicated with possible myelinolysis. ( 12635841 )
2002
41
Primary empty sella syndrome: the role of visual system herniation. ( 12361647 )
2002
42
Empty sella syndrome: incidental findings at computerised tomography. ( 12789130 )
2001
43
Secondary partial empty sella syndrome in an elite bodybuilder. ( 11428511 )
2001
44
Primary empty sella syndrome. ( 10745400 )
2000
45
Empty sella syndrome presenting as galactorrhoea. ( 11280231 )
2000
46
Empty sella syndrome in nevoid basal cell carcinoma syndrome. ( 10838118 )
2000
47
Empty sella syndrome following pituitary apoplexy. ( 10819270 )
2000
48
Prader-Labhart-Willi syndrome with central precocious puberty and empty sella syndrome. ( 10591439 )
1999
49
Adrenal adenocarcinoma and empty sella syndrome in a 37-year-old woman. ( 10533165 )
1999
50
Empty sella syndrome: does it exist in children? ( 10584841 )
1999

Variations for Empty Sella Syndrome

Expression for Empty Sella Syndrome

Search GEO for disease gene expression data for Empty Sella Syndrome.

Pathways for Empty Sella Syndrome

Pathways related to Empty Sella Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 GH1 GNRH1 POMC PRL TRH
2 12.08 GH1 INS PRL
3
Show member pathways
11.88 GH1 INS PRL
4 11.35 POMC PRL
5 11.1 INS PRL
6
Show member pathways
11.06 GH1 INS POMC
7
Show member pathways
10.93 GH1 PRL
8
Show member pathways
10.63 POMC TRH

GO Terms for Empty Sella Syndrome

Cellular components related to Empty Sella Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 GH1 GNRH1 INS POMC PRL TRH
2 extracellular space GO:0005615 9.56 GH1 GNRH1 INS POMC
3 secretory granule GO:0030141 9.13 POMC PRL TRH
4 endosome lumen GO:0031904 8.8 GH1 INS PRL

Biological processes related to Empty Sella Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.5 GNRH1 PRL TRH
2 female pregnancy GO:0007565 9.49 GNRH1 PRL
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.48 GH1 INS
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 GH1 INS
5 glucose transport GO:0015758 9.43 GH1 INS
6 positive regulation of JAK-STAT cascade GO:0046427 9.4 GH1 PRL
7 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.37 GH1 PRL
8 response to ethanol GO:0045471 9.33 GNRH1 PRL TRH
9 ovulation cycle GO:0042698 9.26 GNRH1 PRL
10 negative regulation of feeding behavior GO:2000252 8.96 INS TRH
11 cell-cell signaling GO:0007267 8.92 GNRH1 INS POMC TRH

Molecular functions related to Empty Sella Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.1 GH1 GNRH1 INS POMC PRL TRH
2 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Empty Sella Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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37 KEGG
38 LifeMap
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43 MESH via Orphanet
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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