MCID: EMP001
MIFTS: 40

Empty Sella Syndrome malady

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Empty Sella Syndrome

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Aliases & Descriptions for Empty Sella Syndrome:

Name: Empty Sella Syndrome 11 48 49 39 13 68
Empty Sella Turcica 48
 
Empty Sella 50

Classifications:



External Ids:

Disease Ontology11 DOID:3642
MeSH39 D004652
NCIt45 C84686

Summaries for Empty Sella Syndrome

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NINDS:49 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 are Growth hormone receptor signaling and Signaling events mediated by PTP1B. Affiliated tissues include pituitary, brain and testes, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

NIH Rare Diseases:48 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

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis type vi29.6GH1, POMC, PRL
2pituitary deficiency due to empty sella turcica syndrome12.3
3craniofacial anomalies and anterior segment dysgenesis syndrome11.2
4intracranial hypertension, idiopathic11.0
57q11.23 duplication syndrome10.2GH1, PRL
6wheat allergy10.2POMC, PRL
7pancreatic colloid cystadenoma10.2POMC, PRL
8grin2a-related speech disorders and epilepsy10.2GH1, PRL
9nonparalytic poliomyelitis10.2POMC, PRL
10cerebral hemisphere lipoma10.2GH1, PRL
11bone benign neoplasm10.1POMC, PRL
12glaucoma, hereditary adult type 1a10.1GH1, PRL
13hyperlipoproteinemia type iii10.1INS, POMC
14macrocephaly, benign familial10.1GH1, POMC
15adenoma10.1
16cockayne syndrome type i10.1INS, PRL
17osseous heteroplasia, progressive10.1GH1, PRL
18acute laryngitis10.1POMC, PRL
19plasmalogens synthesis deficiency isolated10.1GH1, PRL
20gershoni-baruch syndrome10.1PRL, TRH
21hypogonadism cardiomyopathy10.1GH1, POMC
22esophagus squamous cell papilloma10.1POMC, PRL
23growth retardation hydrocephaly lung hypoplasia10.1INS, PRL
24capillary disease10.1POMC, PRL
25pituitary adenoma10.1
26hypopituitarism10.1
27endometrial mixed adenocarcinoma10.1POMC, TRH
28basal ganglia cerebrovascular disease10.1INS, POMC
29acth deficiency10.1
30axial osteomalacia10.1GH1, PRL
31hyperprolactinemia10.0
32acromegaly10.0
33diabetes insipidus10.0
34intracranial hypertension10.0
35hypothyroidism, congenital, nongoitrous, 110.0INS, TRH
36endometriosis10.0GNRH1, PRL
37diverticulitis10.0GNRH1, PRL
38transmitted_by10.0POMC, PRL
39neurogenic arthropathy10.0INS, POMC
40dacryoadenitis10.0INS, POMC, PRL
41caudal regression syndrome10.0GH1, POMC, PRL
42merkel cell carcinoma10.0INS, POMC, PRL
43infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations10.0GH1, POMC, PRL
44rheumatic encephalitis10.0GH1, POMC, PRL
45fatty liver disease10.0INS, POMC, PRL
46hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy10.0GH1, POMC, PRL
47critical congenital heart disease10.0GH1, GNRH1
48pituitary apoplexy10.0
49amenorrhea10.0
50hypothyroidism10.0

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



Diseases related to empty sella syndrome

Symptoms & Phenotypes for Empty Sella Syndrome

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MGI Mouse Phenotypes related to Empty Sella Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3GNRH1, INS, POMC, PRL, TRH
2MP:00053708.1GNRH1, INS, POMC, PRL

Drugs & Therapeutics for Empty Sella Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones, Hormone Substitutes, and Hormone Antagonists13168
2Hormones14415
3Hormone Antagonists13180

Interventional clinical trials:

idNameStatusNCT IDPhase
1Growth Hormone Deficiency and Empty Sella Cardio-Metabolic Risk Factors in Obesity: a Cross-Sectional StudyCompletedNCT02092779
2Da Vinci Transoral Robotic-assisted Surgery of Pituitary GlandRecruitingNCT02743442

Search NIH Clinical Center for Empty Sella Syndrome


Cochrane evidence based reviews: empty sella syndrome

Genetic Tests for Empty Sella Syndrome

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Anatomical Context for Empty Sella Syndrome

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MalaCards organs/tissues related to Empty Sella Syndrome:

36
Pituitary, Brain, Testes, Ovary, Thyroid, Bone

Publications for Empty Sella Syndrome

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Articles related to Empty Sella Syndrome:

(show top 50)    (show all 192)
idTitleAuthorsYear
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

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Expression for genes affiliated with Empty Sella Syndrome

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

Pathways for genes affiliated with Empty Sella Syndrome

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GO Terms for genes affiliated with Empty Sella Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1endosome lumenGO:00319049.9GH1, INS, PRL
2secretory granuleGO:00301418.9POMC, PRL, TRH
3extracellular spaceGO:00056158.6GH1, GNRH1, INS, POMC
4extracellular regionGO:00055767.8GH1, GNRH1, INS, POMC, PRL, TRH

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascade involved in growth hormone signaling pathwayGO:006039710.3GH1, PRL
2positive regulation of JAK-STAT cascadeGO:004642710.2GH1, PRL
3glucose transportGO:001575810.1GH1, INS
4positive regulation of peptidyl-tyrosine phosphorylationGO:005073110.1GH1, INS
5positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.1GH1, INS
6negative regulation of feeding behaviorGO:200025210.1INS, TRH
7female pregnancyGO:00075659.9GNRH1, PRL
8ovulation cycleGO:00426989.9GNRH1, PRL
9response to ethanolGO:00454719.3GNRH1, PRL, TRH
10response to organic cyclic compoundGO:00140708.7GNRH1, PRL, TRH
11cell-cell signalingGO:00072678.7GNRH1, INS, POMC, TRH

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

idNameGO IDScoreTop Affiliating Genes
1prolactin receptor bindingGO:00051489.6GH1, PRL
2hormone activityGO:00051797.0GH1, GNRH1, INS, POMC, PRL, TRH

Sources for Empty Sella Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet