PSIS
MCID: PTT041
MIFTS: 50

Pituitary Stalk Interruption Syndrome (PSIS)

Categories: Endocrine diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pituitary Stalk Interruption Syndrome

MalaCards integrated aliases for Pituitary Stalk Interruption Syndrome:

Name: Pituitary Stalk Interruption Syndrome 52 58 6 71
Ectopic Neurohypophysis 52 58
Psis 52 58

Characteristics:

Orphanet epidemiological data:

58
pituitary stalk interruption syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: early childhood;

HPO:

31
pituitary stalk interruption syndrome:
Clinical modifier death in infancy


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Pituitary Stalk Interruption Syndrome

NIH Rare Diseases : 52 Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland characterized by the triad of a very thin or interrupted pituitary stalk , a misplaced (ectopic) or absent posterior pituitary and a small or absent anterior pituitary , with permanent growth hormone (GH) deficit. Signs and symptoms in newborns include low blood sugar levels (hypoglycemia), jaundice , congenital abnormalities and small penis (micropenis) and/or testis that are not in the scrotal sac (cryptorchidism). Later in childhood, signs may include short stature , seizures , low arterial pressure (hypotension) and/or intellectual delay. Some people can also have vision problems (septooptic dysplasia ) and Fanconi anemia . The cause of this condition is unknown. Rare mutations in the HESX1 , LHX4 , OTX2 , SOX3 , and PROKR2 genes can be the cause in familial cases. The diagnosis is confirmed through MRI showing the characteristic findings. Treatment is based on replacement of deficient hormones , particularly GH, and should be started at birth to avoid hormone deficiencies and intellectual delay.

MalaCards based summary : Pituitary Stalk Interruption Syndrome, also known as ectopic neurohypophysis, is related to congenital hypopituitarism and hypogonadism. An important gene associated with Pituitary Stalk Interruption Syndrome is GPR161 (G Protein-Coupled Receptor 161), and among its related pathways/superpathways are Ectoderm Differentiation and Signaling events mediated by the Hedgehog family. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and testis, and related phenotypes are ectopic posterior pituitary and short stature

Wikipedia : 74 Pituitary stalk interruption syndrome (PSIS) is a congenital disorder characterised by the triad of an... more...

Related Diseases for Pituitary Stalk Interruption Syndrome

Diseases related to Pituitary Stalk Interruption Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 congenital hypopituitarism 30.7 LHX4 HESX1
2 hypogonadism 30.4 WDR11 PROKR2 PRL
3 hypogonadotropic hypogonadism 30.2 WDR11 PROKR2 PRL HESX1
4 acth deficiency, isolated 30.1 PRL LHX4
5 growth hormone deficiency 30.0 SOX3 HESX1 GHRHR GH1
6 craniopharyngioma 29.8 PRL POU1F1 GH1
7 solitary median maxillary central incisor 29.5 TGIF1 SHH CDON
8 cryptorchidism, unilateral or bilateral 29.4 SOX3 PROKR2 PRL LHX4 HESX1
9 hypothyroidism 28.8 SOX3 PRL POU1F1 LHX4 HESX1 GH1
10 isolated growth hormone deficiency 28.8 SOX3 POU1F1 LHX4 HESX1 GHRHR GH1
11 holoprosencephaly 28.3 TGIF1 SOX3 SHH POU1F1 LHX4 HESX1
12 pituitary hormone deficiency, combined, 2 27.9 SOX3 PROKR2 PRL POU1F1 LHX4 HESX1
13 pituitary gland disease 27.9 SOX3 PRL POU1F1 LHX4 HESX1 GHRHR
14 hypopituitarism 27.7 SOX3 SHH PROKR2 PRL POU1F1 LHX4
15 pituitary hypoplasia 26.9 TGIF1 SOX3 SHH ROBO1 PRL POU1F1
16 central congenital hypothyroidism 11.8
17 hypoglycemia 10.6
18 human immunodeficiency virus type 1 10.4
19 hyperprolactinemia 10.4
20 strabismus 10.3
21 cholestasis 10.3
22 mechanical strabismus 10.3
23 diabetes insipidus 10.3
24 pneumonia 10.3
25 helix syndrome 10.3
26 insulin-like growth factor i 10.2
27 secondary adrenal insufficiency 10.2
28 prion disease 10.2
29 normosmic congenital hypogonadotropic hypogonadism 10.2 WDR11 PROKR2
30 immunoglobulin e concentration, serum 10.2
31 pustulosis of palm and sole 10.2
32 psoriasis 10.2
33 optic nerve hypoplasia, bilateral 10.1
34 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
35 pseudobulbar palsy 10.1
36 polymicrogyria 10.1
37 scrapie 10.1
38 rapidly involuting congenital hemangioma 10.1
39 fibrous dysplasia/mccune-albright syndrome 10.1 PRL GH1
40 adenohypophysitis 10.1 PRL GH1
41 chromophobe adenoma 10.1 PRL GH1
42 gigantism 10.1 PRL GH1
43 tsh producing pituitary tumor 10.1 PRL GH1
44 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.1 POU1F1 LHX4 HESX1
45 isolated growth hormone deficiency, type ia 10.1
46 brittle bone disorder 10.1
47 koolen-de vries syndrome 10.1
48 ptosis 10.1
49 asphyxia neonatorum 10.1
50 visual epilepsy 10.1

Graphical network of the top 20 diseases related to Pituitary Stalk Interruption Syndrome:



Diseases related to Pituitary Stalk Interruption Syndrome

Symptoms & Phenotypes for Pituitary Stalk Interruption Syndrome

Human phenotypes related to Pituitary Stalk Interruption Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic posterior pituitary 58 31 obligate (100%) Obligate (100%) HP:0011755
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000821
5 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
6 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
7 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
8 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
9 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
10 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
11 primary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000786
12 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
13 adrenal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000835
14 septo-optic dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100842
15 seizure 31 occasional (7.5%) HP:0001250
16 seizures 58 Occasional (29-5%)
17 death in infancy 58 Occasional (29-5%)
18 abnormality of the hypothalamus-pituitary axis 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Pituitary Stalk Interruption Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 CDON GHRHR GPR161 HESX1 POU1F1 PROKR2
2 behavior/neurological MP:0005386 10.16 CDON GHRHR GPR161 PRL PROKR2 ROBO1
3 endocrine/exocrine gland MP:0005379 10.16 GHRHR HESX1 LHX4 POU1F1 PRL PROKR2
4 craniofacial MP:0005382 10.15 CDON GPR161 HESX1 POU1F1 ROBO1 SHH
5 nervous system MP:0003631 10.13 CDON GHRHR GPR161 HESX1 LHX4 POU1F1
6 mortality/aging MP:0010768 10.11 CDON GPR161 HESX1 LHX4 POU1F1 PROKR2
7 embryo MP:0005380 10.02 CDON GPR161 HESX1 SHH SOX3 TGIF1
8 reproductive system MP:0005389 9.91 GHRHR POU1F1 PRL PROKR2 ROBO1 SHH
9 limbs/digits/tail MP:0005371 9.88 CDON GHRHR GPR161 SHH TGIF1 WDR11
10 respiratory system MP:0005388 9.7 CDON HESX1 LHX4 ROBO1 SHH TGIF1
11 skeleton MP:0005390 9.56 CDON GHRHR POU1F1 ROBO1 SHH SOX3
12 taste/olfaction MP:0005394 8.92 HESX1 SHH TGIF1 WDR11

Drugs & Therapeutics for Pituitary Stalk Interruption Syndrome

Drugs for Pituitary Stalk Interruption Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
4 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
6
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
7 Hormone Antagonists Phase 3
8 Hormones Phase 3
9 Antineoplastic Agents, Hormonal Phase 3
10 Methylprednisolone Acetate Phase 3
11 Neuroprotective Agents Phase 3
12 Antiemetics Phase 3
13 Protective Agents Phase 3
14 Gastrointestinal Agents Phase 3
15 Anti-Inflammatory Agents Phase 3
16 Plasma-lyte 148 Phase 3
17 glucocorticoids Phase 3
18
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
19
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
20
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
21
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
22
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
23
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
24
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
25
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
26
Remifentanil Approved Phase 2 132875-61-7 60815
27
Bupivacaine Approved, Investigational Phase 2 2180-92-9, 38396-39-3 2474
28 Anti-Infective Agents Phase 1, Phase 2
29 Immunologic Factors Phase 1, Phase 2
30 Antifungal Agents Phase 1, Phase 2
31 Immunosuppressive Agents Phase 1, Phase 2
32 Anti-Bacterial Agents Phase 1, Phase 2
33 Antibiotics, Antitubercular Phase 1, Phase 2
34 Antineoplastic Agents, Immunological Phase 1, Phase 2
35 Antitubercular Agents Phase 1, Phase 2
36 Dermatologic Agents Phase 1, Phase 2
37 Calcineurin Inhibitors Phase 1, Phase 2
38 Cyclosporins Phase 1, Phase 2
39 Antirheumatic Agents Phase 1, Phase 2
40 Anesthetics Phase 2
41 Narcotics Phase 2
42 Analgesics Phase 2
43 Analgesics, Opioid Phase 2
44
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 10204 6013
45
tannic acid Approved 1401-55-4
46
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
47 Prolactin Release-Inhibiting Factors
48 Sodium Channel Blockers
49 Anti-Arrhythmia Agents
50 Diuretics, Potassium Sparing

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Multi-centre Cluster Randomised Trial Comparing a Community Group Exercise Programme With Home Based Exercise With Usual Care for Over 65s in Primary Care Unknown status NCT00726531 Phase 3
2 Randomized Multicenter Phase 3 Single-blind Trial Comparing the Efficacy of Corticosteroid Control to Mesenchymal Stem Cell Preparations From Autologous Bone Marrow Concentrate (BMAC), Adipose-derived Stem Cells in the Form of Stromal Vascular Fraction (SVF), and Third-party Human Mesenchymal Stem Cells Manufactured From Umbilical Cord Tissue for the Treatment of Unilateral Knee Osteoarthritis (OA) Recruiting NCT03818737 Phase 3 Depomedrol and Normal saline (Corticosteroid injection)
3 Phase 1 Pilot Study Using Autologous CD4+CD25+FoxP3+ T Regulatory Cells and Campath-1H to Induce Renal Transplant Tolerance Unknown status NCT01446484 Phase 1, Phase 2 Alemtuzumab;Mycophenolate mofetil;Sirolimus;Tacrolimus;Cyclosporine;Everolimus
4 Comparative Study Between Psoas Compartment Block (PCB) Versus Local Anesthesia With Remifentanil Infusion for Endovascular Repair of Abdominal Aortic Aneurysm (EVAR): A Randomized Controlled Trial Completed NCT03443518 Phase 2 Normal saline 0.9% IV infusion;Remifentanil infusion
5 Efficacy of Pulsatile GnRH Therapy on Male Patients With Pituitary Stalk Interruption Syndrome Unknown status NCT02705014 Gonadotropin-releasing Hormone
6 Does Under-recognition of Kidney Disease Affect Patient Safety? Completed NCT01407367
7 Ultrasound-guided Sacroiliac Joint Radiofrequency Ablation: A Pilot Study Completed NCT02335190 Lidocaine
8 The Effect of Somatic Dysfunction of the Pelvis, Sacrum and Lower Lumbar Spine on Weight Bearing Completed NCT01097109
9 The Influence of the Sacroiliac Joint Manipulation on Changes in the Values of the Center of Pressure in the Process of Maintaining Static Body Balance Completed NCT04387032
10 Clinical Outcomes of Autologous Bone Marrow Aspirate Concentrate Injections for Musculoskeletal Conditions Recruiting NCT02981394
11 Effects of Two Different Dry-Needling Techniques on Lumbar Multifidus Muscle Activation and Pressure Pain Threshold in Healthy Adults and Patients With Low Back Pain Recruiting NCT03970486
12 Comparing Mesenchymal Stem Cell Counts in Unilateral vs. Bilateral Posterior Superior Iliac Spine Bone Marrow Aspiration Active, not recruiting NCT03014037
13 Implant Survival in Two-piece Versus Single-piece Patient-specific Titanium Subperiosteal Implants in Atrophied Edentulous Mandibles: Randomized Clinical Trial Not yet recruiting NCT03242330
14 The Short-term Effects of Taping During Pregnancy-related Low Back Pain, Pelvic Girdle Pain or Combined Pain Not yet recruiting NCT03807908
15 Frequency of Sacroiliac Malrotation in Low Back Pain and Correction With a Simple In-home Exercise or a Pelvic Support Belt: A Randomized Study Comparing Those Treated Immediately to Those Waiting One Month for Treatment Not yet recruiting NCT03888235
16 A Randomized Control Trial Comparing an Anatomical Axis Aligned and Conventional Mechanical Axis Total Knee Arthroplasty Using Patient-Specific Instrumentation Withdrawn NCT03117959
17 Early Vs Late Sirolimus-Initiation Strategies To Prevent Cardiac Allograft Vasculopathy Related Events in Heart Transplant Recipients Withdrawn NCT01305395 Sirolimus;Sirolimus;Sirolimus;Sirolimus;Sirolimus

Search NIH Clinical Center for Pituitary Stalk Interruption Syndrome

Genetic Tests for Pituitary Stalk Interruption Syndrome

Anatomical Context for Pituitary Stalk Interruption Syndrome

MalaCards organs/tissues related to Pituitary Stalk Interruption Syndrome:

40
Pituitary, Bone, Testis, Bone Marrow, Heart, Kidney, Small Intestine

Publications for Pituitary Stalk Interruption Syndrome

Articles related to Pituitary Stalk Interruption Syndrome:

(show top 50) (show all 668)
# Title Authors PMID Year
1
Patient-specific implants for maxillofacial defects: challenges and solutions. 61
32467823 2020
2
Accuracy of laser-melted patient-specific implants in genioplasty - A three-dimensional retrospective study. 61
32505528 2020
3
Roles of Plant-Specific Inserts in Plant Defense. 61
32526173 2020
4
Presentation and short-term evaluation of an all-in-one patient-specific implant for cranial reconstruction: A randomized controlled trial. 61
32507404 2020
5
Psychological characteristics of martial sports Indonesian athletes based on categories art and fight. 61
32545126 2020
6
Comparable clinical outcome and implant longevity after CT- or MRI-based patient-specific instruments for total knee arthroplasty: a 2-year follow-up of a RCT. 61
31270591 2020
7
How Hands-On Pain Skills Intensive Trainings Complement ECHO Pain and Opioid Management Programs: A Program Evaluation with the Indian Health Service. 61
32556294 2020
8
A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome 61
31448886 2020
9
Imbalance in cerebral protein homeostasis: Effects on memory consolidation. 61
32535180 2020
10
Master Patient Index Standardization Patient Search Identification Service (PSIS) of the National Directorate of Health Information Systems (DNSIS) Argentina. 61
32570647 2020
11
Patient Safety Incidents Reported by the General Public in Korea: A Cross-Sectional Study. 61
29894439 2020
12
Application of a Porcine Small Intestine Submucosa Nerve Cap for Prevention of Neuromas and Associated Pain. 61
31884890 2020
13
Physicians' Difficulties Due to Patient Safety Incidents in Korea: a Cross-Sectional Study. 61
32356419 2020
14
A Critical Review: Moral Injury in Nurses in the Aftermath of a Patient Safety Incident. 61
32222036 2020
15
Impact of Extent of Resection on Incidence of Postoperative Complications in Patients With Glioblastoma. 61
31342060 2020
16
A three-dimensional computed tomography study to determine the ideal method for fluoroscopically-guided bone marrow aspiration from the iliac crest. 61
32415820 2020
17
Porcine Small Intestinal Submucosa Mitral Valve Material Responses Support Acute Somatic Growth. 61
31802695 2020
18
Design improvement in patient-specific instrumentation for total knee arthroplasty improved the accuracy of the tibial prosthetic alignment in the coronal and axial planes. 61
31240377 2020
19
The Ca2+ -regulated protein kinase CIPK1 integrates plant responses to phosphate deficiency in Arabidopsis thaliana. 61
32445589 2020
20
Malpositioning of patient-specific instruments within the possible degrees of freedom in high-tibial osteotomy has no considerable influence on mechanical leg axis correction. 61
30806756 2020
21
The use of patient-specific implants in genioplasty and its clinical accuracy: a preliminary study. 61
31353173 2020
22
The impact of psychosocial interventions on condom and contraceptive use in LMICs: Meta-analysis of randomised controlled trials. 61
32352867 2020
23
Task-specific signatures in the expert brain: Differential correlates of translation and reading in professional interpreters. 61
31923603 2020
24
Patient-specific instrument for unicompartmental knee arthroplasty does not reduce the outliers in alignment or improve postoperative function: a meta-analysis and systematic review. 61
32306092 2020
25
Association of hospital volume with patient selection, risk of complications, and mortality from failure to rescue after open abdominal aortic aneurysm repair. 61
32294505 2020
26
Impact of hospital volume on patient safety indicators and failure to rescue following open aortic aneurysm repair. 61
31515178 2020
27
Improvement in Patient Safety May Precede Policy Changes: Trends in Patient Safety Indicators in the United States, 2000-2013. 61
32217926 2020
28
Growth and Adult Height during Human Growth Hormone Treatment in Chinese Children with Multiple Pituitary Hormone Deficiency Caused by Pituitary Stalk Interruption Syndrome: A Single Centre Study 61
31475508 2020
29
Comparing Standard Performance and Outcome Measures in Hospitalized Pituitary Tumor Patients with Secretory versus Nonsecretory Tumors. 61
31863896 2020
30
Novel endoscopic technique for trisegment drainage in patients with unresectable hilar malignant biliary strictures (with video). 61
32169434 2020
31
Impact of Patient Safety Incidents Reported by the General Public in Korea. 61
32195782 2020
32
Accuracy Assessment of Molded, Patient-Specific Polymethylmethacrylate Craniofacial Implants Compared to Their 3D Printed Originals. 61
32204321 2020
33
Validation of new ICD-10-based patient safety indicators for identification of in-hospital complications in surgical patients: a study of diagnostic accuracy. 61
31439760 2020
34
Community pharmacy staff interactions with patients who have risk factors or warning signs of suicide. 61
31182418 2020
35
Orbital floor repair using patient specific osteoinductive implant made by stereolithography. 61
31954958 2020
36
pH-Induced Regulation of Excitation Energy Transfer in the Cyanobacterial Photosystem I Tetramer. 61
32052966 2020
37
The association of burn patient volume with patient safety indicators and mortality in the US. 61
31843281 2020
38
Excitation-Energy Transfer and Quenching in Diatom PSI-FCPI upon P700 Cation Formation. 61
32011139 2020
39
Structural validity of the Finnish Manchester-Oxford Foot Questionnaire (MOXFQ) using the Rasch model. 61
32122782 2020
40
An Independent Validation of the Brighton Spondylodiscitis Score and a Proposal to Modify the Score. 61
32039921 2020
41
Protective and Supportive Injunctions for Children Exposed to Sexual Abuse: The First Data from Turkey. 61
32040385 2020
42
A Comparative Study of Patients' Subjective Feelings Toward Total Hip Arthroplasty with Patient-Specific Instruments and Traditional Total Hip Arthroplasty. 61
32077264 2020
43
High-Efficiency, Selection-free Gene Repair in Airway Stem Cells from Cystic Fibrosis Patients Rescues CFTR Function in Differentiated Epithelia. 61
31839569 2020
44
Evaluation of Professional Ballet Dancers Body Posture During Barre Movements. 61
32005994 2020
45
Regional myocardial strain analysis via 2D speckle tracking echocardiography: validation with sonomicrometry and correlation with regional blood flow in the presence of graded coronary stenoses and dobutamine stress. 61
31941514 2020
46
Conversion to secondary progressive multiple sclerosis: Multistakeholder experiences and needs in Italy. 61
32053608 2020
47
Delayed diagnosis of congenital hypopituitarism associated with low socio-economic status and/or migration. 61
31691850 2020
48
Two Cases of Pituitary Stalk Interruption Syndrome in Syrian Children. 61
32231812 2020
49
Evaluation of the sciatic nerve location regarding its relationship to the piriformis muscle. 61
31907919 2020
50
Predicting the Depth of the Lumbar Plexus in Pediatric Patients: A Retrospective Magnetic Resonance Imaging Study. 61
30286003 2020

Variations for Pituitary Stalk Interruption Syndrome

ClinVar genetic disease variations for Pituitary Stalk Interruption Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPR161 NM_001267609.1(GPR161):c.56T>A (p.Leu19Gln)SNV Likely pathogenic 180652 rs200635937 1:168074093-168074093 1:168104855-168104855

Expression for Pituitary Stalk Interruption Syndrome

Search GEO for disease gene expression data for Pituitary Stalk Interruption Syndrome.

Pathways for Pituitary Stalk Interruption Syndrome

Pathways related to Pituitary Stalk Interruption Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 SHH HESX1 CDON
2
Show member pathways
10.73 SHH CDON
3 10.5 SHH GPR161 CDON
4 9.91 TGIF1 SHH

GO Terms for Pituitary Stalk Interruption Syndrome

Cellular components related to Pituitary Stalk Interruption Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.35 TGIF1 SOX3 POU1F1 LHX4 HESX1
2 endosome lumen GO:0031904 8.62 PRL GH1

Biological processes related to Pituitary Stalk Interruption Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.02 TGIF1 SOX3 SHH POU1F1 LHX4 HESX1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 TGIF1 SOX3 SHH POU1F1 HESX1
3 multicellular organism development GO:0007275 9.91 TGIF1 SOX3 SHH ROBO1 HESX1 GPR161
4 positive regulation of cell proliferation GO:0008284 9.88 SHH PRL POU1F1 GHRHR
5 mammary gland development GO:0030879 9.57 PRL GHRHR
6 positive regulation of JAK-STAT cascade GO:0046427 9.56 PRL GH1
7 embryonic morphogenesis GO:0048598 9.52 SHH CDON
8 striated muscle cell differentiation GO:0051146 9.51 SHH CDON
9 determination of adult lifespan GO:0008340 9.49 POU1F1 GHRHR
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 PRL GH1
11 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 GHRHR GH1
12 positive regulation of multicellular organism growth GO:0040018 9.43 POU1F1 GHRHR GH1
13 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.4 POU1F1 GHRHR
14 adenohypophysis development GO:0021984 9.37 POU1F1 GHRHR
15 cell fate specification GO:0001708 9.33 SHH POU1F1 CDON
16 positive regulation of skeletal muscle tissue development GO:0048643 9.32 SHH CDON
17 pituitary gland development GO:0021983 9.13 SOX3 POU1F1 HESX1
18 somatotropin secreting cell development GO:0060133 8.62 POU1F1 GHRHR

Molecular functions related to Pituitary Stalk Interruption Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 TGIF1 SOX3 POU1F1 LHX4 HESX1
2 prolactin receptor binding GO:0005148 8.62 PRL GH1

Sources for Pituitary Stalk Interruption Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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28 GO
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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