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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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

MalaCards based summary: Empty Sella Syndrome, also known as empty sella turcica, is related to diabetes insipidus and central retinal vein occlusion, and has symptoms including pituitary enlargement 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 thyroid, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

NINDS:49 Empty Sella Syndrome (ESS) is a disorder that involves the

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 141)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes insipidus28.9GNRH1, INS, POMC, PRL
2central retinal vein occlusion28.0GH1, INS, POMC, PRL, TRH
3pituitary deficiency due to empty sella turcica syndrome12.3
4craniofacial anomalies and anterior segment dysgenesis syndrome11.2
5intracranial hypertension, idiopathic11.1
6lactic acidosis10.3POMC, PRL
7colloid carcinoma of the pancreas10.3POMC, PRL
8immune system organ benign neoplasm10.3POMC, PRL
9osseous heteroplasia, progressive10.3POMC, PRL
10cold-induced sweating syndrome 210.3POMC, PRL
11congenital epulis10.3POMC, PRL
12fumarate hydratase deficiency10.3GH1, PRL
13ovarian mucinous malignant adenofibroma10.3GH1, PRL
14acute myocarditis10.3POMC, PRL
15hemiplegia alterans10.3INS, PRL
16loeffler endocarditis10.3POMC, PRL
17nasopharyngeal disease10.2POMC, PRL
18paranasal sinus cancer, adult10.2INS, PRL
19postural hypotension10.2GH1, PRL
20autoimmune oophoritis10.2GH1, POMC
21aortic valve atresia10.2GH1, PRL
22benign eccrine breast spiradenoma10.2INS, POMC
23myoclonic cerebellar dyssynergia10.2POMC, PRL
2449, xxxxx10.2GH1, PRL
25scleredema adultorum10.2INS, PRL
26genetic lipodystrophy10.2PRL, TRH
27conjunctival vascular disease10.2INS, POMC
28malignant granular cell skin tumor10.1POMC, TRH
29neurilemmoma of the pleura10.1INS, POMC
30dysthymic disorder10.1INS, PRL
31adenoma10.1
32patellofemoral pain syndrome10.1INS, POMC
33central nervous system angiosarcoma10.1INS, POMC
34acromegaly10.1
35pituitary adenoma10.1
36hypopituitarism10.1
37chronic salpingo-oophoritis10.1POMC, PRL
38echolalia10.1PRL, TRH
39acth deficiency10.1
40chancroid10.1INS, POMC
41hypertelorism, preauricular sinus, punctal pits, and deafness10.1INS, TRH
42keratoacanthoma10.1INS, POMC
43hyperprolactinemia10.0
44intracranial hypertension10.0
45benign prostate phyllodes tumor10.0GNRH1, PRL
46pituitary apoplexy10.0
47amenorrhea10.0
48hypothyroidism10.0
49thyroiditis10.0
50precocious puberty10.0

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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UMLS symptoms related to Empty Sella Syndrome:


pituitary enlargement

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9GNRH1, INS, POMC, PRL
2MP:00053798.4GNRH1, INS, POMC, PRL, TRH
3MP:00036317.6GNRH1, INS, POMC, PRL, TRH

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 Antagonists12767
2Hormones13979
3Hormone Antagonists12778

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, Thyroid, Bone, Testes

Publications for Empty Sella Syndrome

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Articles related to Empty Sella Syndrome:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
VISUAL VIGNETTES-PERSISTENT HEADACHES WITH APPARENT EMPTY SELLA SYNDROME. (27967223)
2016
2
Ectopic Acromegaly Arising from a Pituitary Adenoma within the Bony Intersphenoid Septum of a Patient with Empty Sella Syndrome. (27468406)
2016
3
A Case Report of Late Onset Mania Caused by Hyponatremia in a Patient With Empty Sella Syndrome. (26871784)
2016
4
Psychosis in Secondary Empty Sella Syndrome following a Russell's Viper Bite. (27335524)
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
Extra-Pontine Myelinolysis in a Case of Pan-hypopituitarism Due to Empty Sella Syndrome. (27608705)
2015
8
A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome. (25572312)
2015
9
Symptomatic empty sella syndrome: an unusual manifestation of Erdheim-Chester disease. (25810917)
2015
10
Partial empty sella syndrome: a case report and review. (24757313)
2014
11
Septal cartilage plug technique in spontaneous cerebrospinal fluid rhinorrhea postoperatively diagnosed with partial empty sella syndrome. (24911604)
2014
12
Effect of primary empty sella syndrome on pituitary surgery for Cushing's disease. (24857241)
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 in thyroid cancer survivor. (21837937)
2011
18
Precocious puberty and empty sella syndrome in a girl cured of acute lymphoblastic leukemia. (22308868)
2011
19
Empty sella syndrome presented with arthritis. (20052477)
2011
20
Diagnostic dilemmas in a patient with anaemia. Empty sella syndrome--a case report. (20806186)
2010
21
Transsphenoidal treatment of secondary empty sella syndrome using low field strength intraoperative MRI: case report. (21132613)
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
Profound vasodilatory hypotension in a patient with known empty sella syndrome following cardiac surgery. (17635438)
2007
27
Empty sella syndrome, hyperadrenocorticism and megaoesophagus in a dachshund. (17608665)
2007
28
Visual vignette. Empty sella syndrome with central hypothyroidism and hypogonadism. (17599868)
2007
29
Cardiac tamponade under thyroid hormone replacement therapy in a patient with empty sella syndrome. (17143379)
2006
30
Treatment of empty sella syndrome with ventriculoperitoneal shunt. (15749434)
2005
31
Supplementary comment on "Endonasal endoscopic transsphenoidal chiasmapexy with silicone plates for empty sella syndrome--technical note--". (16195653)
2005
32
Endocrine disturbances in empty sella syndrome: case reports and review of literature. (15901528)
2005
33
Primary empty sella syndrome in a series of 142 patients. (16304986)
2005
34
Endonasal endoscopic transsphenoidal chiasmapexy with silicone plates for empty sella syndrome: technical note. (16127264)
2005
35
Empty sella syndrome, panhypopituitarism, and diabetes insipidus. (16338880)
2005
36
Coexisting acromegaly and primary empty sella syndrome. (15361823)
2004
37
No evidence for autoimmunity as a major cause of the empty sella syndrome. (15146367)
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
Empty sella syndrome in nevoid basal cell carcinoma syndrome. (10838118)
2000
45
Primary empty sella syndrome. (10745400)
2000
46
Empty sella syndrome following pituitary apoplexy. (10819270)
2000
47
Empty sella syndrome presenting as galactorrhoea. (11280231)
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
Primary empty sella syndrome. Observations on 71 cases]. (10208096)
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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Pathways related to Empty Sella Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6GH1, PRL
29.5INS, PRL
39.4POMC, PRL
4
Show member pathways
9.3POMC, TRH
59.1GH1, INS, PRL
6
Show member pathways
9.1GH1, INS, PRL
7
Show member pathways
8.9GH1, INS, POMC
8
Show member pathways
8.3GH1, GNRH1, INS, PRL
9
Show member pathways
7.6GH1, GNRH1, POMC, PRL, TRH
10
Show member pathways
7.1GH1, GNRH1, INS, POMC, PRL, TRH

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
1secretory granuleGO:00301419.6POMC, TRH
2secretory granule lumenGO:00347749.3INS, POMC
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 8)
idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascade involved in growth hormone signaling pathwayGO:006039710.2GH1, PRL
2positive regulation of JAK-STAT cascadeGO:004642710.2GH1, PRL
3glucose transportGO:001575810.1GH1, INS
4negative regulation of feeding behaviorGO:200025210.0INS, TRH
5positive regulation of peptidyl-tyrosine phosphorylationGO:005073110.0GH1, INS
6female pregnancyGO:00075659.8GNRH1, PRL
7positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.5GH1, INS
8cell-cell signalingGO:00072678.6GNRH1, 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
2neuropeptide hormone activityGO:00051849.2POMC, TRH
3hormone activityGO:00051798.0GH1, GNRH1, INS, POMC, PRL

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