MCID: EMP001
MIFTS: 42

Empty Sella Syndrome

Categories: Endocrine diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Empty Sella Syndrome

MalaCards integrated aliases for Empty Sella Syndrome:

Name: Empty Sella Syndrome 11 19 52 75 43 14 16 71
Empty Sella Turcica 19
Empty Sella 53

Classifications:



External Ids:

Disease Ontology 11 DOID:3642
MeSH 43 D004652
NCIt 49 C84686
SNOMED-CT 68 393569006
UMLS 71 C0014008

Summaries for Empty Sella Syndrome

NINDS: 52 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 premature ovarian failure 7 and intracranial hypertension, idiopathic. An important gene associated with Empty Sella Syndrome is PRL (Prolactin), and among its related pathways/superpathways are Translation Insulin regulation of translation and FOXO-mediated transcription. The drugs Insulin, Globin Zinc and Insulin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and temporal lobe, and related phenotypes are nervous system and homeostasis/metabolism

GARD: 19 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.

Wikipedia: 75 Empty sella syndrome is the condition when the pituitary gland shrinks or becomes flattened, filling the... 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 473)
# Related Disease Score Top Affiliating Genes
1 premature ovarian failure 7 31.1 POMC GH1
2 intracranial hypertension, idiopathic 31.1 POMC IGF1
3 precocious puberty 31.0 GNRH1 GH1
4 diabetes insipidus 30.9 PRL POMC INS GH1
5 galactorrhea 30.9 PRL IGF1
6 pituitary-dependent cushing's disease 30.5 TRH PRL POMC GH1
7 pituitary tumors 30.4 PROP1 PRL IGF1 GH1
8 central pontine myelinolysis 30.4 POMC INS
9 neurotic disorder 30.4 POMC INS
10 inappropriate adh syndrome 30.4 PRL POMC
11 ectopic cushing syndrome 30.3 PRL POMC
12 central diabetes insipidus 30.2 TRH PRL POMC IGF1 GNRH1 GH1
13 chromophobe adenoma 30.2 TRH PRL POMC GH1
14 growth hormone secreting pituitary adenoma 30.2 PRL POMC IGF1 GH1
15 acth-secreting pituitary adenoma 30.2 PRL POMC
16 myxedema 30.2 POMC INS
17 aspiration pneumonia 30.2 POMC INS
18 penis agenesis 30.2 IGFBP3 GNRH1
19 graves disease 1 30.2 TRH POMC INS
20 inguinal hernia 30.2 POMC INS GNRH1
21 hydrocephalus 30.1 PRL NPY IGFBP3 IGF1
22 migraine with or without aura 1 30.1 PRL POMC NPY INS
23 multiple endocrine neoplasia, type i 30.1 PRL POMC INS
24 alcohol use disorder 30.1 POMC NPY INS
25 fibrous dysplasia 30.1 PRL IGF1 GH1
26 hyperprolactinemia 30.0 TRH PRL POMC INS IGF1 GNRH1
27 pseudohypoparathyroidism 30.0 TRH PRL IGF1
28 central precocious puberty 30.0 POMC IGFBP3 IGF1 GNRH1
29 microvascular complications of diabetes 1 29.9 INS IGFBP3 IGF1
30 turner syndrome 29.9 INS IGFBP3 IGF1 GH1
31 mood disorder 29.9 TRH POMC NPY
32 goiter 29.9 TRH PRL INS IGF1
33 mccune-albright syndrome 29.9 PRL POMC IGF1 GH1
34 adenoma 29.9 TRH PRL POU1F1 POMC IGF1 GH1
35 chronic fatigue syndrome 29.8 POMC INS IGF1 GH1
36 conn's syndrome 29.8 TRH PRL POMC INS IGF1 GNRH1
37 premature menopause 29.8 PRL POMC INS IGF1 GNRH1
38 insulin-like growth factor i 29.8 PRL INS IGFBP3 IGF1 GH1
39 pituitary adenoma 29.8 TRH PRL POU1F1 POMC IGF1 GNRH1
40 hypogonadism 29.7 PROP1 PRL POMC INS IGF1 GNRH1
41 anovulation 29.7 PRL INS IGFBP3 IGF1 GNRH1
42 amenorrhea 29.7 TRH PRL POMC NPY INS IGF1
43 pituitary apoplexy 29.7 TRH PRL POMC INS IGF1 GNRH1
44 combined pituitary hormone deficiencies, genetic forms 29.7 PROP1 POU1F1
45 islet cell tumor 29.6 POMC INS IGFBP3 IGF1
46 major depressive disorder 29.6 TRH PRL POMC NPY INS
47 pituitary infarct 29.6 TRH PRL POMC INS IGF1
48 type 1 diabetes mellitus 29.6 INS IGFBP3 IGF1 GH1
49 glucose intolerance 29.5 PRL POMC INS IGF1 GH1
50 hypogonadotropic hypogonadism 29.5 PROP1 PRL POMC INS IGF1 GNRH1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.23 GH1 GNRH1 IGF1 IGFBP3 INS LHX3
2 homeostasis/metabolism MP:0005376 10.1 GH1 GNRH1 IGF1 IGFBP3 INS LHX3
3 growth/size/body region MP:0005378 10 GH1 GNRH1 IGF1 IGFBP3 INS LHX3
4 renal/urinary system MP:0005367 9.98 GH1 GNRH1 IGF1 INS NPY POMC
5 liver/biliary system MP:0005370 9.95 GH1 GNRH1 IGFBP3 INS NPY POMC
6 endocrine/exocrine gland MP:0005379 9.9 GH1 GNRH1 IGF1 IGFBP3 INS LHX3
7 adipose tissue MP:0005375 9.85 GH1 IGF1 IGFBP3 INS NPY POMC
8 reproductive system MP:0005389 9.56 GH1 GNRH1 IGF1 INS LHX3 POU1F1
9 skeleton MP:0005390 9.17 GNRH1 IGF1 IGFBP3 INS NPY POU1F1

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 Insulin, Globin Zinc
2
Insulin
3 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 (Partial) Empty Sella - Incidental Finding or the Cause of Hormonal Dysregulation? Unknown status NCT04700020
2 Growth Hormone Deficiency, Empty Sella and 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

Organs/tissues related to Empty Sella Syndrome:

MalaCards : Pituitary, Brain, Temporal Lobe, Thyroid, Hypothalamus, Bone, Myeloid

Publications for Empty Sella Syndrome

Articles related to Empty Sella Syndrome:

(show top 50) (show all 1465)
# Title Authors PMID Year
1
SAPHO syndrome with adrenal deficiency: a case report. 53 62
20184675 2009
2
Serum ghrelin levels in growth hormone-sufficient and growth hormone-deficient patients during growth hormone-releasing hormone plus arginine test. 53 62
19636202 2009
3
Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate. 53 62
15279086 2004
4
Pregnancy in hyperprolactinemic infertile women treated with vaginal bromocriptine: report of two cases and review of the literature. 53 62
11408739 2001
5
Assessment of GH/IGF-I axis in obesity by evaluation of IGF-I levels and the GH response to GHRH+arginine test. 53 62
10435851 1999
6
Recessive Robinow syndrome: with emphasis on endocrine functions. 53 62
9826209 1998
7
[Serum levels of growth hormone and insulin-like growth factor in women with empty sella]. 53 62
9695643 1998
8
TSH and prolactin responses to thyrotropin releasing hormone (TRH) and domperidone in patients with empty sella syndrome. 53 62
8796337 1996
9
Opioid-dopaminergic interactions in primary empty sella. 53 62
8299703 1993
10
Macroprolactinomas with suprasellar extension: effect of bromocriptine withdrawal during one or more pregnancies. 53 62
1521641 1992
11
Surgery, dopamine agonist therapy of combined treatment--results in prolactinoma patients after a 12 month follow-up. 53 62
1414079 1992
12
Paradoxical prolactin response to growth hormone-releasing hormone in a patient with hyperprolactinemia and empty sella. 53 62
1752237 1991
13
Cerebrospinal fluid pressure and prolactin in empty sella syndrome. 53 62
2107018 1990
14
Features of Idiopathic Intracranial Hypertension on MRI With MR Elastography: Prospective Comparison With Control Individuals and Assessment of Postintervention Changes. 62
35822642 2022
15
Demonstration of the inferior intercavernous sinus is closely linked to the extent of pneumatization of the sphenoid sinus: useful information for the pituitary surgeon. 62
35987843 2022
16
Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency. 62
36136319 2022
17
The coexistence of newly diagnosed acromegaly with primary empty sella: More frequent than expected? 62
36427362 2022
18
Neuroimaging in the diagnosis and treatment of intracranial pressure disorders. 62
36333629 2022
19
Successful Electroconvulsive Therapy in Idiopathic Intracranial Hypertension With Mood Disorder and Partial Empty Sella Syndrome. 62
36215412 2022
20
The diagnostic value of cranial MRI findings in idiopathic intracranial hypertension: evaluating radiological parameters associated with intracranial pressure. 62
34424106 2022
21
CT Cisternogram Findings in Idiopathic Cerebrospinal Fluid Leaks with Emphasis on Long Term Management. 62
36452803 2022
22
Approach to Management of Cerebrospinal Fluid Rhinorrhea: Institutional Based Protocol. 62
36452775 2022
23
Predictors of postoperative biochemical remission in lower Knosp grade growth hormone-secreting pituitary adenomas: a large single center study. 62
36125731 2022
24
Advances in the Understanding of the Complex Role of Venous Sinus Stenosis in Idiopathic Intracranial Hypertension. 62
35357056 2022
25
Clinical profile and ophthalmological manifestations of idiopathic intracranial hypertension in adults at a tertiary care center in India: A cross-sectional study. 62
36018128 2022
26
The Emptiness Within: A Case of Empty Sella Syndrome. 62
36237776 2022
27
Idiopathic intracranial hypertension: an illustrated guide for the trainee radiologist. 62
36320371 2022
28
The sellar region as presenting theater for hematologic malignancies-A 17-year single-center experience. 62
35400679 2022
29
Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3. 62
36249637 2022
30
How I do it: endoscopic endonasal chiasmopexy for optic chiasm prolapse. 62
35781540 2022
31
Case report: Primary empty Sella causing secondary adrenal insufficiency and severe yet asymptomatic hyponatremia. 62
35957779 2022
32
Empty sella and periodic mental symptoms: A report of two cases. 62
35234075 2022
33
GH/IGF-1 axis in a large cohort of ß-thalassemia major adult patients: a cross-sectional study. 62
35305249 2022
34
Idiopathic Intracranial Hypertension: Incidental Discovery Versus Symptomatic Presentation. 62
35195544 2022
35
Utility of Neuroimaging in the Management of Chronic and Acute Headache. 62
35490044 2022
36
MR findings suggestive of idiopathic intracranial hypertension in 117 patients with spontaneous cerebrospinal fluid rhinorrhea. 62
34677642 2022
37
Etiology and management of amenorrhea in adolescent and young adult women. 62
35525789 2022
38
Trigeminal Neuralgia Secondary to Meckel's Cave Meningoencephaloceles: A Systematic Review and Illustrative Case. 62
35864609 2022
39
Cushing syndrome due to ectopic ACTH secreting pheochromocytoma. 62
35545311 2022
40
Bilateral Petrous Apex Cephalocele Associated with a Wide Sella. 62
34560743 2022
41
[Empty sella syndrome and/or normal tension glaucoma?] 62
35482082 2022
42
A Rare Case of Sheehan Syndrome With Cardiac Tamponade. 62
35607582 2022
43
Long delay in diagnosis of a case with MEN1 due to concomitant presence of AIMAH with insulinoma: a case report and literature review. 62
35448982 2022
44
Different Cases of Short Stature. 62
35443324 2022
45
Acute lymphoblastic leukemia in a child with Weiss-Kruszka syndrome: Casual or causal association? 62
35182807 2022
46
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations. 62
35079915 2022
47
A Unique Subset: Idiopathic Intracranial Hypertension Presenting as Spontaneous CSF Leak of the Anterior Skull Base. 62
35433188 2022
48
Clinical and Radiological Profile of 122 Cases of Idiopathic Intracranial Hypertension in a Tertiary Care Centre of India: An Observational Study. 62
35532643 2022
49
Population-Based Evaluation of Indirect Signs of Increased Intracranial Pressure. 62
34334756 2022
50
Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates. 62
35415221 2022

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 INS IGFBP3 IGF1 GH1
2
Show member pathways
11.82 POMC NPY INS
3 11.73 INS IGF1 GH1
4 11.6 INS IGFBP3 IGF1
5 11.52 INS IGFBP3 IGF1
6
Show member pathways
11.49 POMC INS IGF1 GH1
7 11.42 TRH POMC NPY
8 11.32 PRL POU1F1 POMC
9 11.11 POMC INS GNRH1
10
Show member pathways
10.97 TRH POMC
11 10.23 PRL POMC NPY INS

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 10.22 PRL POMC NPY INS IGFBP3 IGF1
2 extracellular region GO:0005576 10.21 GH1 GNRH1 IGF1 IGFBP3 INS NPY
3 insulin-like growth factor ternary complex GO:0042567 9.46 IGFBP3 IGF1
4 insulin-like growth factor binding protein complex GO:0016942 9.26 IGFBP3 IGF1
5 endosome lumen GO:0031904 9.1 PRL INS GH1

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.86 TRH POMC INS GNRH1
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.8 INS IGF1 GH1
3 positive regulation of glycogen biosynthetic process GO:0045725 9.67 INS IGF1
4 adenohypophysis development GO:0021984 9.33 PROP1 POU1F1
5 somatotropin secreting cell differentiation GO:0060126 9.26 PROP1 LHX3
6 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.1 IGFBP3 IGF1 GH1

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 9.5 TRH PRL POMC NPY INS IGF1
2 insulin-like growth factor receptor binding GO:0005159 9.46 INS IGF1
3 prolactin receptor binding GO:0005148 9.26 PRL GH1

Sources for Empty Sella Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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