MCID: EMP001
MIFTS: 52

Empty Sella Syndrome malady

Rare diseases, Endocrine diseases categories

Summaries for Empty Sella Syndrome

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44NIH Rare Diseases, 45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 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 a condition that is often discovered during tests for pituitary disorders, when radiological imaging of the pituitary gland reveals a sella turcica that appears to be empty. There are two types of ESS: primary and secondary. happens when a small anatomical defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten out along the interior walls of the sella turcica cavity. Primary ESS is associated with obesity and high blood pressure in women. The disorder sometimes results in a build-up of fluid pressure inside the skull and the pituitary gland may be smaller than usual. is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS due to destruction of the pituitary gland 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. MRI scans are useful in evaluating ESS and differentiating it from other disorders that produce an enlarged sella.

MalaCards: Empty Sella Syndrome, also known as empty sella turcica, is related to panhypopituitarism and acth deficiency. An important gene associated with Empty Sella Syndrome is PRL (prolactin), and among its related pathways are Glucocorticoid receptor regulatory network and Development Leptin signaling via JAK STAT and MAPK cascades. The compounds flesinoxan and ipsapirone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and testes, and related mouse phenotypes are adipose tissue and integument.

NIH Rare Diseases:44 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:66 Empty sella syndrome (abbreviated ESS) is a disorder that involves the sella turcica \"Turkish Saddle\",... more...

Aliases & Classifications for Empty Sella Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 11DISEASES, 63UMLS, 46Novoseek, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

empty sella syndrome 9 44 45 11 63
empty sella turcica 44
empty sella 46


External Ids:

Disease Ontology9 DOID:3642
MeSH36 D004652
NCIt41 C84686

Related Diseases for Empty Sella Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Empty Sella Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1panhypopituitarism30.9POMC, PRL
2acth deficiency30.8PRL, POMC
3acromegaly30.8PRL, IGFBP3
4diabetes insipidus30.8TRH, PRL, POMC
5hyperprolactinemia30.8TRH, POMC, PRL
6pituitary adenoma30.8PRL, TRH, POMC
7thyroiditis30.7TRH, POMC
8pituitary apoplexy30.7POMC, TRH, PRL
9hypothyroidism30.7IGFBP3, TRH
10precocious puberty30.6PRL, POMC, IGFBP3
11amenorrhea30.6POMC, INS, PRL, TRH
12adenoma30.5INS, IGFBP3, TRH, PRL, POMC, HSPG2
13hypopituitarism30.5IGFBP3, INS, POMC, PRL, TRH
14exophthalmos30.5TRH
15growth hormone deficiency30.4INS, POMC, IGFBP3, PRL
16hypogonadism30.3TRH, IGFBP3, PRL, INS, POMC
17prolactinoma30.3PRL, TRH, POMC
18cushing's syndrome30.3TRH, PRL, POMC
19pituitary tumors30.3TRH, PRL, POMC
20thyroid cancer30.3TRH, HSPG2
21short stature30.2INS, IGFBP3, PRL
22neuroendocrine tumor30.2TRH, PRL, POMC
23premature ovarian failure30.2IGFBP3, PRL
24obesity30.2INS, POMC, TRH, IGFBP3
25pancreatitis30.2HSPG2, INS
26pseudotumor cerebri10.6
27pituitary deficiency due to empty sella turcica syndrome10.6
28hypertension10.5
29intracranial hypertension10.5
30cysticercosis10.4
31neuropathy10.4
32headache10.4
33adrenal carcinoma10.3
34leiomyoma10.3
35isolated acth deficiency10.3
36testicular microlithiasis10.3
37osteoporotic fracture10.2
38neurofibromatosis10.2
39cardiac tamponade10.2
40nevoid basal cell carcinoma syndrome10.2
41central retinal vein occlusion10.2
42hypogonadotropism10.2
43low tension glaucoma10.2
44allergic rhinitis10.2
45primary hyperparathyroidism10.2
46arachnoiditis10.2
47pulsating exophthalmos10.2
48renal tubular acidosis10.2
49fibrous dysplasia10.2
50adenocarcinoma10.2

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



Diseases related to empty sella syndrome

Symptoms for Empty Sella Syndrome

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Drugs & Therapeutics for Empty Sella Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Empty Sella Syndrome

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Anatomical Context for Empty Sella Syndrome

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34MalaCards
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MalaCards organs/tissues related to Empty Sella Syndrome:

34
Pituitary, Brain, Testes, Thyroid, Bone

Animal Models for Empty Sella Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Empty Sella Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6POMC, INS, IGFBP3
2MP:00107718.0PRL, POMC, HSPG2, INS
3MP:00053707.8PRL, POMC, HSPG2, INS, IGFBP3
4MP:00053797.8IGFBP3, INS, POMC, PRL, TRH
5MP:00036317.7TRH, PRL, POMC, HSPG2, INS
6MP:00053867.7IGFBP3, INS, HSPG2, POMC, PRL
7MP:00053787.4IGFBP3, INS, HSPG2, POMC, TRH
8MP:00053767.3IGFBP3, INS, HSPG2, POMC, PRL, TRH

Publications for Empty Sella Syndrome

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53PubMed
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Articles related to Empty Sella Syndrome:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
Empty sella syndrome - beyond being an incidental finding. (23565413)
2012
2
Empty sella syndrome in thyroid cancer survivor. (21837937)
2011
3
Precocious puberty and empty sella syndrome in a girl cured of acute lymphoblastic leukemia. (22308868)
2011
4
Primary pituitary abscess followed by empty sella syndrome in an adolescent girl. (18953655)
2010
5
Diagnostic dilemmas in a patient with anaemia. Empty sella syndrome--a case report. (20806186)
2010
6
Empty sella syndrome, hyperadrenocorticism and megaoesophagus in a dachshund. (17608665)
2007
7
Cardiac tamponade under thyroid hormone replacement therapy in a patient with empty sella syndrome. (17143379)
2006
8
Endocrine disturbances in empty sella syndrome: case reports and review of literature. (15901528)
2005
9
Primary empty sella syndrome in a series of 142 patients. (16304986)
2005
10
Empty sella syndrome: incidental findings at computerised tomography. (12789130)
2001
11
Empty sella syndrome following pituitary apoplexy. (10819270)
2000
12
Empty sella syndrome: does it exist in children? (10584841)
1999
13
Empty sella syndrome. (23119635)
1999
14
Primary empty sella syndrome and central retinal vein occlusion. (7746642)
1995
15
Echographic and ophthalmodynamometric study in the empty sella syndrome. (8278157)
1993
16
Transsphenoidal extradural chiasmapexy in the management of the symptomatic primary empty sella syndrome. (8237166)
1993
17
Empty sella syndrome associated with partial hypopituitarism (visualized on MRI scan). (1429078)
1992
18
Can empty sella syndrome be mistaken for a progressive form of nonarteritic ischemic optic neuropathy? (2383186)
1990
19
Transsphenoidal chiasmopexy for long standing visual failure in the secondary empty sella syndrome. (3267311)
1988
20
Empty sella syndrome and pituitary apoplexy. (2896893)
1988
21
Antipituitary antibodies in patients with the primary empty sella syndrome. (3417843)
1988
22
Empty sella syndrome occurring with polyostotic fibrous dysplasia of the midface: report of a case. (3507319)
1987
23
Empty sella syndrome and growth deficiency in childhood. (3667334)
1987
24
Empty sella syndrome in an adolescent. (3700200)
1986
25
Empty sella syndrome caused by syphilitic arachnoiditis. (3951113)
1986
26
Empty sella syndrome. (6723249)
1984
27
Dissociation of serum prolactin response to sequential thyrotropin-releasing hormone and chlorpromazine stimulation in patients with primary empty sella syndrome. (6436062)
1984
28
Primary empty sella syndrome with panhypopituitarism in a child. (6543857)
1984
29
The empty sella syndrome. (6575148)
1983
30
Empty sella syndrome with visual field disturbance. (6855016)
1983
31
Coexistent primary empty sella syndrome and hyperprolactinemia. Report of 11 cases. (6870411)
1983
32
Empty sella syndrome. (7338504)
1981
33
The primary empty sella syndrome. Diagnosis with metrizamide cisternography. (6895391)
1981
34
Primary empty sella syndrome and hypopituitarism associated with primary hypothyroidism. (6792264)
1981
35
Diagnosis of empty sella syndrome using Amipaque cisternography combined with computerized tomography. (7350285)
1980
36
Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma. (6782020)
1980
37
Physiopathological aspects of the empty sella syndrome combined with prolactin hypersecretion. (7193954)
1980
38
Familial pseudotumor cerebri and the empty sella syndrome. (6927213)
1980
39
Primary empty sella syndrome with panhypopituitarism, diabetes insipidus, and visual field defects. (707005)
1978
40
The primary Empty Sella Syndrome in Hawaii. (914514)
1977
41
Empty sella syndrome with neurofibromatosis. (411749)
1977
42
Primary empty sella syndrome with elevated serum prolactin. (561354)
1977
43
The primary empty sella syndrome: analysis of the clinical characteristics, radiographic features, pituitary function and cerebrospinal fluid adenohypophysial hormone concentrations. (851132)
1977
44
Amenorrhea-galactorrhea associated with the empty-sella syndrome. (560123)
1977
45
The primary empty sella syndrome in a child. (839337)
1977
46
The empty sella syndrome. (904521)
1977
47
Primary empty sella syndrome with visual field defects. (937363)
1976
48
The empty sella syndrome. (1013000)
1976
49
Does pseudotumor cerebri cause the empty sella syndrome? (1168876)
1975
50
The empty sella syndrome. Case report. (5457646)
1970

Variations for Empty Sella Syndrome

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Expression for genes affiliated with Empty Sella Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Empty Sella Syndrome

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Pathways for genes affiliated with Empty Sella Syndrome

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51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 31KEGG
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Pathways related to Empty Sella Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6POMC, PRL
2
Show member pathways
9.5POMC, TRH
39.2PRL, INS
4
Show member pathways
9.2POMC, INS
5
Show member pathways
9.1POMC, PRL, TRH
69.0INS, IGFBP3
7
Show member pathways
8.7PRL, HSPG2, INS
8
Show member pathways
8.6POMC, INS, IGFBP3
9
Show member pathways
7.7TRH, PRL, POMC, HSPG2, INS

Compounds for genes affiliated with Empty Sella Syndrome

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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 3BitterDB, 25HMDB, 62Tocris Bioscience
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Compounds related to Empty Sella Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 102)
idCompoundScoreTop Affiliating Genes
1flesinoxan469.9POMC, PRL
2ipsapirone46 3010.8POMC, PRL
3acth 1-24469.8PRL, POMC
411 deoxycortisol469.8PRL, POMC
5sulpiride46 30 1211.5PRL, TRH
6naloxone46 30 52 1212.5TRH, PRL, POMC
7haloperidol46 52 30 3 1213.4PRL, TRH, POMC
8hexarelin46 3010.4PRL, POMC, IGFBP3
9naltrexone46 30 52 1212.4POMC, PRL, IGFBP3
10cocaine46 1210.4POMC, PRL, TRH
11mecasermin46 1210.4INS, IGFBP3
12carbamazepine46 52 1211.3POMC, PRL, IGFBP3
13ghrp469.3PRL, TRH, IGFBP3
14pyridostigmine46 1210.3PRL, TRH, IGFBP3
15progestin469.3IGFBP3, POMC, PRL
165-hydroxytryptamine469.3POMC, PRL, HSPG2
17oxandrolone46 1210.3INS, IGFBP3
18megestrol acetate469.3IGFBP3, POMC
19methimazole46 3 1211.3POMC, IGFBP3, TRH
20fructosamine46 2510.1IGFBP3, INS
212-deoxyglucose46 1210.0POMC, INS, HSPG2
22clomiphene citrate469.0PRL, INS, IGFBP3
23fenfluramine46 30 1210.9PRL, IGFBP3, TRH, POMC
24bromocriptine46 30 1210.9POMC, PRL, IGFBP3, TRH
25clonidine46 52 30 1211.9PRL, POMC, IGFBP3, TRH
26triiodothyronine468.9POMC, PRL, IGFBP3, TRH
27ibmx46 62 3010.9TRH, HSPG2, INS
28estradiol46 25 1210.8IGFBP3, POMC, TRH, PRL
29progesterone46 30 62 25 1212.8PRL, POMC, IGFBP3, TRH
30glycerol46 25 1210.8IGFBP3, INS, POMC
31hydrocortisone46 3 62 1211.7POMC, INS, PRL, TRH
32adenylate468.7POMC, TRH, HSPG2, IGFBP3
33cycloheximide468.7IGFBP3, POMC, HSPG2, TRH
34dehydroepiandrosterone sulfate468.6IGFBP3, INS, POMC, PRL
35dhea468.6INS, POMC, PRL, IGFBP3
36androstenedione46 259.6INS, POMC, PRL, IGFBP3
37aspirin46 52 30 2511.6POMC, HSPG2, IGFBP3
38epinephrine46 25 1210.6INS, PRL, IGFBP3, POMC
39octreotide46 62 30 1211.1PRL, INS, IGFBP3, POMC, TRH
40thyroxine46 259.1POMC, TRH, INS, IGFBP3, PRL
41acth468.1IGFBP3, POMC, TRH, PRL, INS
42norepinephrine46 25 1210.1PRL, IGFBP3, INS, POMC, TRH
43alanine468.1INS, HSPG2, IGFBP3, POMC
44glutamate468.1INS, TRH, HSPG2, IGFBP3
45testosterone46 62 25 1211.0IGFBP3, PRL, INS, POMC, TRH
46arginine468.0PRL, POMC, TRH, IGFBP3, INS
47estrogen468.0TRH, INS, POMC, PRL, IGFBP3
48glucose468.0IGFBP3, INS, POMC, PRL, TRH
49gnrh467.6TRH, IGFBP3, INS, POMC, PRL, HSPG2
50dexamethasone46 52 30 1210.6PRL, HSPG2, TRH, IGFBP3, INS, POMC

GO Terms for genes affiliated with Empty Sella Syndrome

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17Gene Ontology
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Cellular components related to Empty Sella Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.2POMC, INS
2secretory granuleGO:0301419.2TRH, POMC
3Golgi lumenGO:0057969.1HSPG2, INS
4extracellular spaceGO:0056158.0IGFBP3, INS, HSPG2, POMC
5extracellular regionGO:0055767.2TRH, IGFBP3, INS, HSPG2, POMC, PRL

Biological processes related to Empty Sella Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of feeding behaviorGO:20002529.1TRH, INS
2positive regulation of MAPK cascadeGO:0434108.7IGFBP3, INS
3cellular protein metabolic processGO:0442678.6POMC, INS, IGFBP3
4cell-cell signalingGO:0072678.6TRH, POMC, INS

Molecular functions related to Empty Sella Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051798.8PRL, POMC, INS

Products for genes affiliated with Empty Sella Syndrome

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Sources for Empty Sella Syndrome

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4CDC
14ExPASy
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24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
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41NCIt
42NDF-RT
45NINDS
46Novoseek
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53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
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