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 76 53 54 44 15 73
Empty Sella Turcica 53
Empty Sella 55

Classifications:



External Ids:

Disease Ontology 12 DOID:3642
MeSH 44 D004652
NCIt 50 C84686
UMLS 73 C0014008

Summaries for Empty Sella Syndrome

NINDS : 54 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 in 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 diabetes insipidus and galactorrhea. An important gene associated with Empty Sella Syndrome is PRL (Prolactin), and among its related pathways/superpathways are TGF-Beta Pathway and Peptide ligand-binding receptors. 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 neoplasm

NIH Rare Diseases : 53 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.

Wikipedia : 76 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 149)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus 30.5 POMC PRL
2 galactorrhea 30.5 IGF1 PRL
3 growth hormone deficiency 30.0 GH1 IGF1
4 precocious puberty 29.8 GH1 GNRH1
5 hypogonadotropism 29.7 GNRH1 PRL
6 central precocious puberty 29.5 GNRH1 IGF1
7 fibrous dysplasia 29.4 GH1 IGF1 PRL
8 pituitary apoplexy 29.4 GNRH1 POMC PRL
9 adenoma 29.2 GH1 IGF1 POMC PRL
10 pituitary tumors 28.6 GH1 IGF1 POMC PRL
11 amenorrhea 28.3 GNRH1 POMC PRL TRH
12 pituitary infarct 28.1 GNRH1 IGF1 POMC PRL
13 acromegaly 28.1 GH1 IGF1 POMC PRL TRH
14 hypothyroidism 27.9 GH1 IGF1 POMC PRL TRH
15 hypopituitarism 27.7 GH1 GNRH1 IGF1 POMC PRL
16 pituitary gland disease 27.2 GH1 GNRH1 IGF1 POMC PRL
17 hyperprolactinemia 26.5 GH1 GNRH1 IGF1 POMC PRL TRH
18 pituitary deficiency due to empty sella turcica syndrome 12.4
19 craniofacial anomalies and anterior segment dysgenesis syndrome 11.4
20 pituitary carcinoma 10.4 POMC PRL
21 sella turcica neoplasm 10.4 POMC PRL
22 tuberculum sellae meningioma 10.4 POMC PRL
23 nelson syndrome 10.4 POMC PRL
24 acth-secreting pituitary adenoma 10.4 POMC PRL
25 fibrous dysplasia/mccune-albright syndrome 10.4 GH1 PRL
26 adrenal cortex disease 10.4 POMC PRL
27 adrenal gland disease 10.4 POMC PRL
28 tsh producing pituitary tumor 10.4 GH1 PRL
29 gigantism 10.3 GH1 PRL
30 mammographic density 10.3 IGF1 PRL
31 acidophil adenoma 10.3 IGF1 POMC
32 lymphocytic hypophysitis 10.3 GH1 POMC
33 tetrahydrobiopterin deficiency 10.3 GH1 PRL
34 gynecomastia 10.3 POMC PRL
35 hypoadrenalism 10.3 GH1 POMC
36 pituitary stalk interruption syndrome 10.3 GH1 PRL
37 fasting hypoglycemia 10.3 IGF1 POMC
38 generalized resistance to thyroid hormone 10.2 PRL TRH
39 persistent fetal circulation syndrome 10.2 IGF1 POMC
40 endocrine pancreas disease 10.2 IGF1 POMC
41 isolated growth hormone deficiency, type ib 10.2 GH1 IGF1
42 acanthosis nigricans 10.2 IGF1 PRL
43 opiate dependence 10.2 IGF1 POMC
44 intracranial hypertension, idiopathic 10.2
45 pituitary adenoma 10.2
46 pancreas disease 10.2 IGF1 POMC
47 suprasellar meningioma 10.2 POMC TRH
48 laron syndrome 10.1 GH1 IGF1
49 intracranial hypertension 10.1
50 isolated growth hormone deficiency, type ii 10.1 GH1 IGF1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.35 GNRH1 IGF1 POMC PRL TRH
2 neoplasm MP:0002006 8.92 GNRH1 IGF1 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:

41
Pituitary, Brain, Testes, Ovary, Thyroid, Bone

Publications for Empty Sella Syndrome

Articles related to Empty Sella Syndrome:

(show top 50) (show all 199)
# Title Authors Year
1
Primary Empty Sella Syndrome and the Prevalence of Hormonal Dysregulation. ( 29510819 )
2018
2
Resolution of symptomatic secondary empty sella syndrome following lumbar-peritoneal shunt. ( 29721351 )
2018
3
Transnasal transphenoidal elevation of optic chiasm in secondary empty sella syndrome following prolactinoma treatment. ( 29421446 )
2018
4
Macroprolactinemia and Empty Sella Syndrome. ( 29187947 )
2017
5
New Technique for Chiasmapexy Using Iliac Crest Bone Graft: 2 Cases of Visual Impairment Caused by Empty Sella Syndrome. ( 28843758 )
2017
6
A Case Report of Late Onset Mania Caused by Hyponatremia in a Patient With Empty Sella Syndrome. ( 26871784 )
2016
7
VISUAL VIGNETTES-PERSISTENT HEADACHES WITH APPARENT EMPTY SELLA SYNDROME. ( 27967223 )
2016
8
Ectopic Acromegaly Arising from a Pituitary Adenoma within the Bony Intersphenoid Septum of a Patient with Empty Sella Syndrome. ( 27468406 )
2016
9
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
10
Primary Empty Sella Syndrome Presenting With Severe Hyponatremia And Minimal Salt Wasting. ( 28712246 )
2016
11
Psychosis in Secondary Empty Sella Syndrome following a Russell's Viper Bite. ( 27335524 )
2016
12
Empty sella syndrome in a male child with failure to thrive. ( 25878744 )
2015
13
Extra-Pontine Myelinolysis in a Case of Pan-hypopituitarism Due to Empty Sella Syndrome. ( 27608705 )
2015
14
A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome. ( 25572312 )
2015
15
Symptomatic empty sella syndrome: an unusual manifestation of Erdheim-Chester disease. ( 25810917 )
2015
16
Partial empty sella syndrome: a case report and review. ( 24757313 )
2014
17
Septal cartilage plug technique in spontaneous cerebrospinal fluid rhinorrhea postoperatively diagnosed with partial empty sella syndrome. ( 24911604 )
2014
18
Effect of primary empty sella syndrome on pituitary surgery for Cushing's disease. ( 24857241 )
2014
19
Osteoporotic fractures and persistent non-fusion of the hand epiphyses caused by empty sella syndrome in an adult: a case report. ( 24029021 )
2013
20
Empty sella syndrome - beyond being an incidental finding. ( 23565413 )
2012
21
Persistence of primary empty sella syndrome despite obesity surgery: report of two unusual cases. ( 22725713 )
2012
22
Empty sella syndrome. ( 23304808 )
2012
23
Empty sella syndrome in thyroid cancer survivor. ( 21837937 )
2011
24
Precocious puberty and empty sella syndrome in a girl cured of acute lymphoblastic leukemia. ( 22308868 )
2011
25
Empty sella syndrome presented with arthritis. ( 20052477 )
2011
26
Diagnostic dilemmas in a patient with anaemia. Empty sella syndrome--a case report. ( 20806186 )
2010
27
Transsphenoidal treatment of secondary empty sella syndrome using low field strength intraoperative MRI: case report. ( 21132613 )
2010
28
Primary pituitary abscess followed by empty sella syndrome in an adolescent girl. ( 18953655 )
2010
29
A case of hypothalamic panhypopituitarism with empty sella syndrome: case report and review of the literature. ( 19352054 )
2009
30
A new visual field test in empty sella syndrome: rarebit perimetry. ( 18609487 )
2008
31
Empty sella syndrome, hyperadrenocorticism and megaoesophagus in a dachshund. ( 17608665 )
2007
32
Visual vignette. Empty sella syndrome with central hypothyroidism and hypogonadism. ( 17599868 )
2007
33
Empty sella syndrome associated with a hyperfunctioning microadenoma invading the clivus. ( 18071980 )
2007
34
Profound vasodilatory hypotension in a patient with known empty sella syndrome following cardiac surgery. ( 17635438 )
2007
35
Cardiac tamponade under thyroid hormone replacement therapy in a patient with empty sella syndrome. ( 17143379 )
2006
36
Primary empty sella syndrome in a series of 142 patients. ( 16304986 )
2005
37
Treatment of empty sella syndrome with ventriculoperitoneal shunt. ( 15749434 )
2005
38
Supplementary comment on "Endonasal endoscopic transsphenoidal chiasmapexy with silicone plates for empty sella syndrome--technical note--". ( 16195653 )
2005
39
Endocrine disturbances in empty sella syndrome: case reports and review of literature. ( 15901528 )
2005
40
Endonasal endoscopic transsphenoidal chiasmapexy with silicone plates for empty sella syndrome: technical note. ( 16127264 )
2005
41
Empty sella syndrome, panhypopituitarism, and diabetes insipidus. ( 16338880 )
2005
42
Coexisting acromegaly and primary empty sella syndrome. ( 15361823 )
2004
43
No evidence for autoimmunity as a major cause of the empty sella syndrome. ( 15146367 )
2004
44
Primary empty sella syndrome. ( 12900138 )
2003
45
Spontaneous nasal cerebrospinal fluid leaks and empty sella syndrome: a clinical association. ( 12751703 )
2003
46
Treating hyponatremia in an empty sella syndrome patient complicated with possible myelinolysis. ( 12635841 )
2002
47
Primary empty sella syndrome: the role of visual system herniation. ( 12361647 )
2002
48
Secondary partial empty sella syndrome in an elite bodybuilder. ( 11428511 )
2001
49
Empty sella syndrome: incidental findings at computerised tomography. ( 12789130 )
2001
50
Primary empty sella syndrome. ( 10745400 )
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

Pathways related to Empty Sella Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 GH1 GNRH1 IGF1 PRL
2
Show member pathways
12.62 GH1 GNRH1 POMC PRL TRH
3
Show member pathways
12.3 GH1 IGF1 PRL
4
Show member pathways
12.16 GH1 GNRH1 IGF1
5
Show member pathways
11.51 GH1 GNRH1 IGF1
6 11.39 POMC PRL
7 11.22 GH1 IGF1
8
Show member pathways
11.06 GH1 IGF1 POMC
9
Show member pathways
10.87 GH1 PRL
10
Show member pathways
10.63 POMC TRH

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 space GO:0005615 9.55 GH1 GNRH1 IGF1 POMC PRL
2 extracellular region GO:0005576 9.1 GH1 GNRH1 IGF1 POMC PRL TRH
3 endosome lumen GO:0031904 8.96 GH1 PRL

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.58 GNRH1 POMC TRH
2 female pregnancy GO:0007565 9.51 GNRH1 PRL
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.49 GH1 IGF1
4 response to glucose GO:0009749 9.48 IGF1 TRH
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 GH1 IGF1
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 GH1 IGF1
7 regulation of multicellular organism growth GO:0040014 9.37 IGF1 PRL
8 positive regulation of JAK-STAT cascade GO:0046427 9.32 GH1 PRL
9 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.26 GH1 PRL
10 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.16 GH1 IGF1
11 response to nutrient levels GO:0031667 9.13 GH1 IGF1 PRL
12 regulation of signaling receptor activity GO:0010469 9.1 GH1 GNRH1 IGF1 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 IGF1 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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