MCID: EMP001
MIFTS: 38

Empty Sella Syndrome malady

Rare diseases, Endocrine diseases categories

Aliases & Classifications for Empty Sella Syndrome

About this section

Aliases & Descriptions for Empty Sella Syndrome:

Name: Empty Sella Syndrome 10 45 46 12 65 36
Empty Sella Turcica 45
 
Empty Sella 47


Classifications:



External Ids:

Disease Ontology10 DOID:3642
NCIt42 C84686
MeSH36 D004652

Summaries for Empty Sella Syndrome

About this section
NINDS:46 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 based summary: Empty Sella Syndrome, also known as empty sella turcica, is related to diabetes insipidus and hypothyroidism. An important gene associated with Empty Sella Syndrome is PRL (Prolactin), and among its related pathways are Nuclear signaling by ERBB4 and Growth hormone receptor signaling. Affiliated tissues include pituitary, brain and testes, and related mouse phenotypes are liver/biliary system and tumorigenesis.

NIH Rare Diseases:45 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:68 Empty sella syndrome (abbreviated ESS) is where the pituitary gland shrinks or becomes flattened,... more...

Related Diseases for Empty Sella Syndrome

About this section

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

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes insipidus30.3GNRH1, IGF1, POMC, PRL
2hypothyroidism30.1GH1, GNRH1, PRL, TRH
3hyperprolactinemia29.6GH1, GNRH1, IGF1, POMC, PRL, TRH
4pituitary infarct29.5GH1, GNRH1, IGF1, POMC, PRL
5pituitary deficiency due to empty sella turcica syndrome10.7
6pseudotumor cerebri10.6
7adenoma10.6
8acromegaly10.5
9hypopituitarism10.5
10intracranial hypertension10.5
11pituitary adenoma10.5
12acth deficiency10.5
13pituitary apoplexy10.5
14amenorrhea10.5
15thyroiditis10.5
16precocious puberty10.5
17cysticercosis10.4
18hypogonadism10.4
19neuropathy10.4
20growth hormone deficiency10.4
21headache10.4
22testicular microlithiasis10.4
23craniofacial anomalies and anterior segment dysgenesis syndrome10.4
24adrenal carcinoma10.4
25leiomyoma10.4
26petrositis10.3
27dwarfism10.3
28isolated growth hormone deficiency10.3
29porphyria cutanea tarda10.2
30obesity10.2
31mucopolysaccharidosis type vi10.2
32allergic rhinitis10.2
33osteoporosis10.2
34arthritis10.2
35hydrocephalus10.2
36ischemic optic neuropathy10.2
37leukemia10.2
38renal tubular acidosis10.2
39retinal vein occlusion10.2
40central retinal vein occlusion10.2
41pulsating exophthalmos10.2
42arachnoiditis10.2
43low tension glaucoma10.2
44cushing's syndrome10.2
45primary hyperparathyroidism10.2
46exophthalmos10.2
47cardiac tamponade10.2
48fibrous dysplasia10.2
49erdheim-chester disease10.2
50hypogonadotropism10.2

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



Diseases related to empty sella syndrome

Symptoms for Empty Sella Syndrome

About this section

Drugs & Therapeutics for Empty Sella Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Growth Hormone Deficiency and Empty Sella Cardio-Metabolic Risk Factors in Obesity: a Cross-Sectional StudyCompletedNCT02092779

Search NIH Clinical Center for Empty Sella Syndrome


Cochrane evidence based reviews: Empty Sella Syndrome

Genetic Tests for Empty Sella Syndrome

About this section

Anatomical Context for Empty Sella Syndrome

About this section

MalaCards organs/tissues related to Empty Sella Syndrome:

33
Pituitary, Brain, Testes, Thyroid, Bone

Animal Models for Empty Sella Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Empty Sella Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4GH1, GNRH1, POMC, PRL
2MP:00020068.1GNRH1, IGF1, POMC, PRL
3MP:00053797.1GH1, GNRH1, IGF1, POMC, PRL, TRH
4MP:00036317.0GH1, GNRH1, IGF1, POMC, PRL, TRH
5MP:00053766.8GH1, GNRH1, IGF1, POMC, PRL, TRH

Publications for Empty Sella Syndrome

About this section

Articles related to Empty Sella Syndrome:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Septal cartilage plug technique in spontaneous cerebrospinal fluid rhinorrhea postoperatively diagnosed with partial empty sella syndrome. (24911604)
2014
2
Partial empty sella syndrome: a case report and review. (24757313)
2014
3
Empty sella syndrome - beyond being an incidental finding. (23565413)
2012
4
Empty sella syndrome in thyroid cancer survivor. (21837937)
2011
5
Precocious puberty and empty sella syndrome in a girl cured of acute lymphoblastic leukemia. (22308868)
2011
6
Primary pituitary abscess followed by empty sella syndrome in an adolescent girl. (18953655)
2010
7
Diagnostic dilemmas in a patient with anaemia. Empty sella syndrome--a case report. (20806186)
2010
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

About this section

Expression for genes affiliated with Empty Sella Syndrome

About this section
Search GEO for disease gene expression data for Empty Sella Syndrome.

Pathways for genes affiliated with Empty Sella Syndrome

About this section

GO Terms for genes affiliated with Empty Sella Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:00301419.7POMC, TRH
2extracellular spaceGO:00056158.1GH1, GNRH1, IGF1, POMC
3extracellular regionGO:00055766.8GH1, GNRH1, IGF1, POMC, PRL, TRH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascade involved in growth hormone signaling pathwayGO:006039710.3GH1, PRL
2positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.2GH1, IGF1
3positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.1GH1, IGF1
4positive regulation of JAK-STAT cascadeGO:004642710.0GH1, PRL
5positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.9GH1, IGF1
6positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.8GH1, IGF1
7regulation of multicellular organism growthGO:00400149.7IGF1, PRL
8female pregnancyGO:00075659.4GNRH1, PRL
9cell-cell signalingGO:00072678.8GNRH1, POMC, TRH
10signal transductionGO:00071658.0GNRH1, IGF1, POMC, TRH

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

idNameGO IDScoreTop Affiliating Genes
1prolactin receptor bindingGO:000514810.0GH1, PRL
2hormone activityGO:00051797.6GH1, GNRH1, IGF1, POMC, PRL

Sources for Empty Sella Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet