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 hypogonadotropism and combined pituitary hormone deficiency. 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 Methylprednisolone hemisuccinate 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 failure to thrive

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 hypogonadotropism 30.8 PROKR2 PRL
2 combined pituitary hormone deficiency 30.7 POU1F1 LHX4 HESX1
3 hypogonadotropic hypogonadism 30.3 WDR11 PROKR2 PRL
4 hypogonadism 30.0 WDR11 PROKR2 PRL GH1
5 growth hormone deficiency 30.0 SOX3 HESX1 GHRHR GH1
6 dwarfism 29.9 GHRHR GH1
7 craniopharyngioma 29.8 PRL POU1F1 GH1
8 acth deficiency, isolated 29.8 PRL POU1F1 LHX4
9 cryptorchidism, unilateral or bilateral 29.4 SOX3 PROKR2 PRL LHX4 HESX1
10 hypothyroidism 28.8 SOX3 PRL POU1F1 LHX4 HESX1 GH1
11 isolated growth hormone deficiency 28.8 SOX3 POU1F1 LHX4 HESX1 GHRHR GH1
12 pituitary hormone deficiency, combined, 2 28.7 SOX3 PRL POU1F1 LHX4 HESX1 GH1
13 holoprosencephaly 28.3 TGIF1 SOX3 SHH POU1F1 LHX4 HESX1
14 pituitary gland disease 27.9 SOX3 PRL POU1F1 LHX4 HESX1 GHRHR
15 congenital hypopituitarism 27.7 SOX3 SHH PROKR2 PRL POU1F1 LHX4
16 hypopituitarism 27.6 SOX3 SHH PROKR2 PRL POU1F1 LHX4
17 pituitary hypoplasia 26.9 TGIF1 SOX3 SHH ROBO1 PRL POU1F1
18 central congenital hypothyroidism 11.8
19 hypoglycemia 10.6
20 human immunodeficiency virus type 1 10.4
21 hyperprolactinemia 10.4
22 strabismus 10.3
23 cholestasis 10.3
24 mechanical strabismus 10.3
25 diabetes insipidus 10.3
26 pneumonia 10.3
27 coloboma of optic nerve 10.3 PROKR2 HESX1
28 helix syndrome 10.3
29 normosmic congenital hypogonadotropic hypogonadism 10.3 WDR11 PROKR2
30 insulin-like growth factor i 10.2
31 secondary adrenal insufficiency 10.2
32 prion disease 10.2
33 immunoglobulin e concentration, serum 10.2
34 pustulosis of palm and sole 10.2
35 psoriasis 10.2
36 rapidly involuting congenital hemangioma 10.2
37 hypogonadotropic hypogonadism 7 with or without anosmia 10.2 WDR11 PROKR2
38 fibrous dysplasia/mccune-albright syndrome 10.1 PRL GH1
39 adenohypophysitis 10.1 PRL GH1
40 optic nerve hypoplasia, bilateral 10.1
41 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
42 pseudobulbar palsy 10.1
43 polymicrogyria 10.1
44 chromophobe adenoma 10.1 PRL GH1
45 tsh producing pituitary tumor 10.1 PRL GH1
46 gigantism 10.1 PRL GH1
47 scrapie 10.1
48 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.1 POU1F1 LHX4 HESX1
49 isolated growth hormone deficiency, type ib 10.1 GHRHR GH1
50 hypothalamic disease 10.1 PRL GH1

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 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic posterior pituitary 58 31 obligate (100%) Obligate (100%) HP:0011755
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
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 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
10 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
12 primary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000786
13 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
14 adrenal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000835
15 septo-optic dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100842
16 death in infancy 58 Occasional (29-5%)
17 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 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
2
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
3 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
4
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
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 Antiemetics Phase 3
10 Gastrointestinal Agents Phase 3
11 Plasma-lyte 148 Phase 3
12 Methylprednisolone Acetate Phase 3
13 Anti-Inflammatory Agents Phase 3
14 Autonomic Agents Phase 3
15 Protective Agents Phase 3
16 Neuroprotective Agents Phase 3
17 Antineoplastic Agents, Hormonal Phase 3
18 glucocorticoids Phase 3
19
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
21
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
22
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
23
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
24
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
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 38396-39-3, 2180-92-9 2474
28 Anti-Infective Agents Phase 1, Phase 2
29 Immunologic Factors Phase 1, Phase 2
30 Antibiotics, Antitubercular Phase 1, Phase 2
31 Anti-Bacterial Agents Phase 1, Phase 2
32 Antifungal Agents Phase 1, Phase 2
33 Immunosuppressive Agents 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 Cyclosporins Phase 1, Phase 2
38 Antirheumatic Agents Phase 1, Phase 2
39 Calcineurin Inhibitors Phase 1, Phase 2
40 Anesthetics Phase 2
41 Central Nervous System Depressants Phase 2
42 Narcotics Phase 2
43 Analgesics, Opioid Phase 2
44 Analgesics Phase 2
45
tannic acid Approved 1401-55-4
46
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
47
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 6013 10204
48 Prolactin Release-Inhibiting Factors
49 Anesthetics, Local
50 Anti-Arrhythmia Agents

Interventional clinical trials:

(show all 16)
# 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 Clinical Outcomes of Autologous Bone Marrow Aspirate Concentrate Injections for Musculoskeletal Conditions Recruiting NCT02981394
10 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
11 Comparing Mesenchymal Stem Cell Counts in Unilateral vs. Bilateral Posterior Superior Iliac Spine Bone Marrow Aspiration Active, not recruiting NCT03014037
12 Implant Survival in Two-piece Versus Single-piece Patient-specific Titanium Subperiosteal Implants in Atrophied Edentulous Mandibles: Randomized Clinical Trial Not yet recruiting NCT03242330
13 The Short-term Effects of Taping During Pregnancy-related Low Back Pain, Pelvic Girdle Pain or Combined Pain Not yet recruiting NCT03807908
14 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
15 A Randomized Control Trial Comparing an Anatomical Axis Aligned and Conventional Mechanical Axis Total Knee Arthroplasty Using Patient-Specific Instrumentation Withdrawn NCT03117959
16 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 642)
# Title Authors PMID Year
1
Orbital floor repair using patient specific osteoinductive implant made by stereolithography. 61
31954958 2020
2
The association of burn patient volume with patient safety indicators and mortality in the US. 61
31843281 2020
3
An Independent Validation of the Brighton Spondylodiscitis Score and a Proposal to Modify the Score. 61
32039921 2020
4
Evaluation of Professional Ballet Dancers Body Posture During Barre Movements. 61
32005994 2020
5
Excitation Energy Transfer and Quenching in Diatom PSI-FCPI Upon P700 Cation Formation. 61
32011139 2020
6
High-Efficiency, Selection-free Gene Repair in Airway Stem Cells from Cystic Fibrosis Patients Rescues CFTR Function in Differentiated Epithelia. 61
31839569 2020
7
Application of a Porcine Small Intestine Submucosa Nerve Cap for Prevention of Neuromas and Associated Pain. 61
31884890 2020
8
Delayed diagnosis of congenital hypopituitarism associated with low socio-economic status and/or migration. 61
31691850 2020
9
Evaluation of the sciatic nerve location regarding its relationship to the piriformis muscle. 61
31907919 2020
10
Task-specific signatures in the expert brain: Differential correlates of translation and reading in professional interpreters. 61
31923603 2020
11
Porcine Small Intestinal Submucosa Mitral Valve Material Responses Support Acute Somatic Growth. 61
31802695 2020
12
Predicting the Depth of the Lumbar Plexus in Pediatric Patients: A Retrospective Magnetic Resonance Imaging Study. 61
30286003 2020
13
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
14
Is bony attachment necessary for dynamic reference frame in navigation-assisted minimally invasive lumbar spine fusion surgery? 61
31478764 2019
15
Comparing Standard Performance and Outcome Measures in Hospitalized Pituitary Tumor Patients with Secretory versus Nonsecretory Tumors. 61
31863896 2019
16
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis. 61
31502381 2019
17
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(C.1957-2A>C) Mutation in GLI2 Gene 61
31782289 2019
18
Patient Safety Indicator-12 Rarely Identifies Problems with Quality of Care in Perioperative Venous Thromboembolism. 61
31995470 2019
19
DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations. 61
31480013 2019
20
Distinct pituitary hormone levels of 184 Chinese children and adolescents with multiple pituitary hormone deficiency: a single-centre study. 61
31722706 2019
21
The impact of hospital volume on patient safety indicators following post-mastectomy breast reconstruction in the US. 61
31338643 2019
22
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 2019
23
Impact of hospital volume on patient safety indicators and failure to rescue following open aortic aneurysm repair. 61
31515178 2019
24
Pituitary Stalk Interruption Syndrome. 61
31756884 2019
25
Postoperative mechanical alignment analysis of total knee replacement patients operated with 3D printed patient specific instruments: A Prospective Cohort Study. 61
30853398 2019
26
Cone Beam Intraoperative Computed Tomography-based Image Guidance for Minimally Invasive Transforaminal Interbody Fusion. 61
31449230 2019
27
A novel missense mutation in human Receptor Roundabout-1 (ROBO1) gene associated with pituitary stalk interruption syndrome 61
31448886 2019
28
Urinary tract infection after stroke: A narrative review. 61
31288133 2019
29
[Rasch analysis of the Chinese Version of the Low Vision Quality of Life Questionnaire]. 61
31422636 2019
30
No differences in infections between patient-specific implants and conventional mini-plates in mandibular bilateral sagittal split osteotomy - Up to 3-year follow-up. 61
31178267 2019
31
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 2019
32
Effects of anisomycin infusions into the dorsal striatum on memory consolidation of intense training and neurotransmitter activity. 61
31200098 2019
33
Homelessness and Inpatient Burn Outcomes in the United States. 61
30938433 2019
34
N-Linked Glycosylation Modulates Golgi-Independent Vacuolar Sorting Mediated by the Plant Specific Insert. 61
31480247 2019
35
Prediction of Response Time and Vigilance Score in a Sustained Attention Task from Pre-trial Phase Synchrony using Deep Neural Networks. 61
31945988 2019
36
Comparison of postoperative skeletal stability of maxillary segments after Le Fort I osteotomy, using patient-specific implant versus mini-plate fixation. 61
31085061 2019
37
The use of patient specific polyetheretherketone implants for reconstruction of maxillofacial deformities. 61
31103433 2019
38
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 2019
39
Patient-specific instrumentation in total knee arthroplasty. 61
31154870 2019
40
The use of patient-specific implants in genioplasty and its clinical accuracy: a preliminary study. 61
31353173 2019
41
Impact of Extent of Resection on Incidence of Postoperative Complications in Patients With Glioblastoma. 61
31342060 2019
42
Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series. 61
31211689 2019
43
Duration of second victim symptoms in the aftermath of a patient safety incident and association with the level of patient harm: a cross-sectional study in the Netherlands. 61
31292185 2019
44
Nano-silver modified porcine small intestinal submucosa for the treatment of infected partial-thickness burn wounds. 61
30595540 2019
45
Are hybrid sit-stand postures a good compromise between sitting and standing? 61
30763145 2019
46
Resection margins obtained with patient-specific instruments for resecting primary pelvic bone sarcomas: A case-control study. 61
30982774 2019
47
The Effect of an Innovative Biofeedback SKOL-AS® Treatment on the Body Posture and Trunk Rotation in Children with Idiopathic Scoliosis-Preliminary Study. 61
31181685 2019
48
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 2019
49
Accuracy of patient-specific implants and additive-manufactured surgical splints in orthognathic surgery - A three-dimensional retrospective study. 61
30894302 2019
50
Thrombotic events with proliferation signal inhibitor‒based immunosuppression in cardiac transplantation. 61
30685236 2019

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_153832.2(GPR161):c.-5T>ASNV 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 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.01 TGIF1 SOX3 SHH POU1F1 LHX4 HESX1
2 multicellular organism development GO:0007275 9.91 TGIF1 SOX3 SHH ROBO1 HESX1 GPR161
3 positive regulation of cell proliferation GO:0008284 9.87 SHH PRL POU1F1 GHRHR
4 mammary gland development GO:0030879 9.56 PRL GHRHR
5 positive regulation of JAK-STAT cascade GO:0046427 9.55 PRL GH1
6 embryonic morphogenesis GO:0048598 9.52 SHH CDON
7 striated muscle cell differentiation GO:0051146 9.51 SHH CDON
8 determination of adult lifespan GO:0008340 9.49 POU1F1 GHRHR
9 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 PRL GH1
10 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 GHRHR GH1
11 positive regulation of multicellular organism growth GO:0040018 9.43 POU1F1 GHRHR GH1
12 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.4 POU1F1 GHRHR
13 adenohypophysis development GO:0021984 9.37 POU1F1 GHRHR
14 cell fate specification GO:0001708 9.33 SHH POU1F1 CDON
15 positive regulation of skeletal muscle tissue development GO:0048643 9.32 SHH CDON
16 pituitary gland development GO:0021983 9.13 SOX3 POU1F1 HESX1
17 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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