MCID: EMP001
MIFTS: 42

Empty Sella Syndrome

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Empty Sella Syndrome

MalaCards integrated aliases for Empty Sella Syndrome:

Name: Empty Sella Syndrome 12 72 49 50 41 14 69
Empty Sella Turcica 49
Empty Sella 51

Classifications:



External Ids:

Disease Ontology 12 DOID:3642
MeSH 41 D004652
NCIt 46 C84686
UMLS 69 C0014008

Summaries for Empty Sella Syndrome

NINDS : 50 Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, 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 pituitary hormone deficiency, combined, 2 and adenoma. An important gene associated with Empty Sella Syndrome is PRL (Prolactin), and among its related pathways/superpathways are Peptide ligand-binding receptors and Prolactin 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 : 49 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 : 72 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 148)
# Related Disease Score Top Affiliating Genes
1 pituitary hormone deficiency, combined, 2 30.1 GH1 POMC PRL
2 adenoma 30.1 GH1 POMC PRL
3 diabetes insipidus 30.0 INS POMC PRL
4 fibrous dysplasia 29.8 GH1 PRL
5 precocious puberty 29.8 GH1 GNRH1
6 hypogonadotropism 29.7 GNRH1 PRL
7 pituitary tumors 29.6 GH1 POMC PRL
8 pituitary adenoma 29.4 GH1 POMC PRL TRH
9 pituitary infarct 29.2 GNRH1 POMC PRL
10 body mass index quantitative trait locus 11 29.1 GH1 INS POMC
11 pituitary adenoma, prolactin-secreting 29.1 GH1 POMC PRL TRH
12 pituitary apoplexy 29.0 GNRH1 INS POMC PRL
13 amenorrhea 28.9 GNRH1 POMC PRL TRH
14 acromegaly 28.9 GH1 INS POMC PRL TRH
15 hypopituitarism 28.6 GH1 GNRH1 INS POMC PRL
16 hyperprolactinemia 28.4 GH1 GNRH1 POMC PRL TRH
17 pituitary gland disease 28.1 GH1 GNRH1 INS POMC PRL
18 pituitary deficiency due to empty sella turcica syndrome 12.4
19 intracranial hypertension, idiopathic 11.5
20 craniofacial anomalies and anterior segment dysgenesis syndrome 11.4
21 sella turcica neoplasm 10.2 POMC PRL
22 tuberculum sellae meningioma 10.2 POMC PRL
23 fibrous dysplasia/mccune-albright syndrome 10.2 GH1 PRL
24 nelson syndrome 10.2 POMC PRL
25 acth-secreting pituitary adenoma 10.2 POMC PRL
26 central nervous system organ benign neoplasm 10.2 POMC PRL
27 tsh producing pituitary tumor 10.2 GH1 PRL
28 adrenal cortex disease 10.2 POMC PRL
29 pituitary adenoma 1, multiple types 10.2 GH1 PRL
30 adrenal gland disease 10.2 POMC PRL
31 gigantism 10.2 GH1 PRL
32 scleredema adultorum 10.2 INS POMC
33 lymphocytic hypophysitis 10.2 GH1 POMC
34 tetrahydrobiopterin deficiency 10.1 GH1 PRL
35 granulosa cell tumor of the ovary 10.1 INS PRL
36 hypoadrenalism 10.1 GH1 POMC
37 generalized resistance to thyroid hormone 10.1 PRL TRH
38 pituitary stalk interruption syndrome 10.1 GH1 PRL
39 fetal erythroblastosis 10.1 INS POMC
40 intracranial hypertension 10.1
41 gynecomastia 10.1 POMC PRL
42 mccune-albright syndrome 10.1 GH1 PRL
43 suprasellar meningioma 10.1 POMC TRH
44 endocrine pancreas disease 10.1 INS POMC
45 hypothyroidism 10.1
46 thyroiditis 10.1
47 headache 10.1
48 pancreas disease 10.0 INS POMC
49 endometriosis of uterus 10.0 GNRH1 PRL
50 overnutrition 10.0 INS POMC

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:

43
# 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):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Growth Hormone Deficiency and Empty Sella Cardio-Metabolic Risk Factors in Obesity: a Cross-Sectional Study Completed NCT02092779

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:

38
Pituitary, Brain, Testes, Ovary, Thyroid, Bone

Publications for Empty Sella Syndrome

Articles related to Empty Sella Syndrome:

(show top 50) (show all 197)
# Title Authors Year
1
Transnasal transphenoidal elevation of optic chiasm in secondary empty sella syndrome following prolactinoma treatment. ( 29421446 )
2018
2
Macroprolactinemia and Empty Sella Syndrome. ( 29187947 )
2017
3
New Technique for Chiasmapexy Using Iliac Crest Bone Graft: 2 Cases of Visual Impairment Caused by Empty Sella Syndrome. ( 28843758 )
2017
4
Primary Empty Sella Syndrome Presenting With Severe Hyponatremia And Minimal Salt Wasting. ( 28712246 )
2016
5
VISUAL VIGNETTES-PERSISTENT HEADACHES WITH APPARENT EMPTY SELLA SYNDROME. ( 27967223 )
2016
6
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
7
A Case Report of Late Onset Mania Caused by Hyponatremia in a Patient With Empty Sella Syndrome. ( 26871784 )
2016
8
Ectopic Acromegaly Arising from a Pituitary Adenoma within the Bony Intersphenoid Septum of a Patient with Empty Sella Syndrome. ( 27468406 )
2016
9
Psychosis in Secondary Empty Sella Syndrome following a Russell's Viper Bite. ( 27335524 )
2016
10
Extra-Pontine Myelinolysis in a Case of Pan-hypopituitarism Due to Empty Sella Syndrome. ( 27608705 )
2015
11
Empty sella syndrome in a male child with failure to thrive. ( 25878744 )
2015
12
A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome. ( 25572312 )
2015
13
Symptomatic empty sella syndrome: an unusual manifestation of Erdheim-Chester disease. ( 25810917 )
2015
14
Septal cartilage plug technique in spontaneous cerebrospinal fluid rhinorrhea postoperatively diagnosed with partial empty sella syndrome. ( 24911604 )
2014
15
Partial empty sella syndrome: a case report and review. ( 24757313 )
2014
16
Effect of primary empty sella syndrome on pituitary surgery for Cushing's disease. ( 24857241 )
2014
17
Osteoporotic fractures and persistent non-fusion of the hand epiphyses caused by empty sella syndrome in an adult: a case report. ( 24029021 )
2013
18
Empty sella syndrome - beyond being an incidental finding. ( 23565413 )
2012
19
Empty sella syndrome. ( 23304808 )
2012
20
Persistence of primary empty sella syndrome despite obesity surgery: report of two unusual cases. ( 22725713 )
2012
21
Empty sella syndrome in thyroid cancer survivor. ( 21837937 )
2011
22
Precocious puberty and empty sella syndrome in a girl cured of acute lymphoblastic leukemia. ( 22308868 )
2011
23
Empty sella syndrome presented with arthritis. ( 20052477 )
2011
24
Primary pituitary abscess followed by empty sella syndrome in an adolescent girl. ( 18953655 )
2010
25
Transsphenoidal treatment of secondary empty sella syndrome using low field strength intraoperative MRI: case report. ( 21132613 )
2010
26
Diagnostic dilemmas in a patient with anaemia. Empty sella syndrome--a case report. ( 20806186 )
2010
27
A case of hypothalamic panhypopituitarism with empty sella syndrome: case report and review of the literature. ( 19352054 )
2009
28
A new visual field test in empty sella syndrome: rarebit perimetry. ( 18609487 )
2008
29
Visual vignette. Empty sella syndrome with central hypothyroidism and hypogonadism. ( 17599868 )
2007
30
Empty sella syndrome, hyperadrenocorticism and megaoesophagus in a dachshund. ( 17608665 )
2007
31
Empty sella syndrome associated with a hyperfunctioning microadenoma invading the clivus. ( 18071980 )
2007
32
Profound vasodilatory hypotension in a patient with known empty sella syndrome following cardiac surgery. ( 17635438 )
2007
33
Cardiac tamponade under thyroid hormone replacement therapy in a patient with empty sella syndrome. ( 17143379 )
2006
34
Treatment of empty sella syndrome with ventriculoperitoneal shunt. ( 15749434 )
2005
35
Endocrine disturbances in empty sella syndrome: case reports and review of literature. ( 15901528 )
2005
36
Supplementary comment on "Endonasal endoscopic transsphenoidal chiasmapexy with silicone plates for empty sella syndrome--technical note--". ( 16195653 )
2005
37
Primary empty sella syndrome in a series of 142 patients. ( 16304986 )
2005
38
Endonasal endoscopic transsphenoidal chiasmapexy with silicone plates for empty sella syndrome: technical note. ( 16127264 )
2005
39
Empty sella syndrome, panhypopituitarism, and diabetes insipidus. ( 16338880 )
2005
40
Coexisting acromegaly and primary empty sella syndrome. ( 15361823 )
2004
41
No evidence for autoimmunity as a major cause of the empty sella syndrome. ( 15146367 )
2004
42
Primary empty sella syndrome. ( 12900138 )
2003
43
Spontaneous nasal cerebrospinal fluid leaks and empty sella syndrome: a clinical association. ( 12751703 )
2003
44
Treating hyponatremia in an empty sella syndrome patient complicated with possible myelinolysis. ( 12635841 )
2002
45
Primary empty sella syndrome: the role of visual system herniation. ( 12361647 )
2002
46
Secondary partial empty sella syndrome in an elite bodybuilder. ( 11428511 )
2001
47
Empty sella syndrome: incidental findings at computerised tomography. ( 12789130 )
2001
48
Empty sella syndrome following pituitary apoplexy. ( 10819270 )
2000
49
Primary empty sella syndrome. ( 10745400 )
2000
50
Empty sella syndrome presenting as galactorrhoea. ( 11280231 )
2000

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

GO Terms for Empty Sella Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 GH1 GNRH1 INS POMC PRL TRH
2 secretory granule GO:0030141 9.16 POMC TRH
3 endosome lumen GO:0031904 8.8 GH1 INS PRL

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.71 GNRH1 INS POMC TRH
2 female pregnancy GO:0007565 9.48 GNRH1 PRL
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.46 GH1 INS
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.43 GH1 INS
5 glucose transport GO:0015758 9.37 GH1 INS
6 positive regulation of JAK-STAT cascade GO:0046427 9.32 GH1 PRL
7 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.26 GH1 PRL
8 cell-cell signaling GO:0007267 9.26 GNRH1 INS POMC TRH
9 negative regulation of feeding behavior GO:2000252 9.16 INS TRH
10 regulation of receptor activity GO:0010469 9.1 GH1 GNRH1 INS POMC PRL TRH

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
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42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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