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 20 58 6 70
Ectopic Neurohypophysis 20 58
Psis 20 58


Orphanet epidemiological data:

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


pituitary stalk interruption syndrome:
Onset and clinical course death in infancy


Orphanet: 58  
Rare endocrine diseases

Summaries for Pituitary Stalk Interruption Syndrome

GARD : 20 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 hypopituitarism and pituitary hypoplasia. An important gene associated with Pituitary Stalk Interruption Syndrome is ROBO1 (Roundabout Guidance Receptor 1), and among its related pathways/superpathways are Fanconi anemia pathway and Retinoblastoma (RB) in Cancer. The drugs Ribavirin and Sofosbuvir 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 : 73 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 112)
# Related Disease Score Top Affiliating Genes
1 hypopituitarism 31.2 PROKR2 LHX4 HESX1
2 pituitary hypoplasia 31.2 ROBO1 LHX4 HESX1
3 congenital hypopituitarism 30.8 LHX4 HESX1
4 pituitary hormone deficiency, combined, 2 30.7 PROKR2 LHX4 HESX1
5 sheehan syndrome 30.5 LHX4 HESX1
6 acth deficiency, isolated 30.4 PROKR2 LHX4 HESX1
7 holoprosencephaly 30.3 LHX4 HESX1 FGFR3 CDON
8 hypogonadism 30.1 WDR11 PROKR2 NSMF KISS1R CHD7
9 hypogonadotropic hypogonadism 30.0 WDR11 PROKR2 NSMF KISS1R CHD7
10 fanconi anemia, complementation group e 30.0 FANCG FANCD2 FANCA
11 cryptorchidism, unilateral or bilateral 30.0 PROKR2 NSMF LHX4 KISS1R HESX1 CHD7
12 fanconi anemia, complementation group d2 30.0 FANCG FANCD2 FANCA
13 renal hypodysplasia/aplasia 1 29.5 ROBO1 PROKR2 NSMF KISS1R CHD7
14 central congenital hypothyroidism 11.4
15 growth hormone deficiency 10.6
16 hypoglycemia 10.6
17 penis agenesis 10.6
18 hypothyroidism 10.5
19 hyperprolactinemia 10.4
20 isolated growth hormone deficiency 10.4
21 cholestasis 10.4
22 diabetes insipidus 10.4
23 strabismus 10.4
24 mechanical strabismus 10.4
25 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.3 LHX4 HESX1
26 combined pituitary hormone deficiencies, genetic forms 10.3 LHX4 HESX1
27 insulin-like growth factor i 10.3
28 amenorrhea 10.3
29 pituitary gland disease 10.3
30 secondary adrenal insufficiency 10.3
31 pituitary hormone deficiency, combined, 1 10.2 LHX4 HESX1
32 idiopathic central precocious puberty 10.2 PROKR2 KISS1R
33 peliosis hepatis 10.2 FANCG FANCA
34 coloboma of optic nerve 10.1 PROKR2 NSMF HESX1
35 congenital hypogonadotropic hypogonadism 10.1 KISS1R CHD7
36 fanconi anemia, complementation group c 10.1
37 arima syndrome 10.1
38 isolated growth hormone deficiency, type ia 10.1
39 polydactyly 10.1
40 brittle bone disorder 10.1
41 spastic paraplegia 11, autosomal recessive 10.1
42 koolen-de vries syndrome 10.1
43 joubert syndrome 9 10.1
44 alacrima, achalasia, and mental retardation syndrome 10.1
45 ptosis 10.1
46 asphyxia neonatorum 10.1
47 hyperinsulinism 10.1
48 lipid metabolism disorder 10.1
49 craniopharyngioma 10.1
50 fatty liver disease 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 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 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:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.39 ARID1B CC2D2A CDON CHD7 DNMT1 FANCD2
2 growth/size/body region MP:0005378 10.39 ARID1B CC2D2A CDON CHD7 DNMT1 FANCA
3 cellular MP:0005384 10.38 CC2D2A CDON CHD7 DNMT1 FANCA FANCD2
4 mortality/aging MP:0010768 10.31 ARID1B CC2D2A CDON CHD7 DNMT1 FANCA
5 endocrine/exocrine gland MP:0005379 10.3 CHD7 FANCA FANCD2 FANCG HESX1 KISS1R
6 craniofacial MP:0005382 10.26 ARID1B CC2D2A CDON CHD7 FANCA FGFR3
7 homeostasis/metabolism MP:0005376 10.26 ARID1B CHD7 FANCA FANCD2 FGFR3 KISS1R
8 digestive/alimentary MP:0005381 10.25 CC2D2A CDON CHD7 DNMT1 FGFR3 KISS1R
9 nervous system MP:0003631 10.2 ARID1B CC2D2A CDON CHD7 DNMT1 FANCD2
10 hematopoietic system MP:0005397 10.19 ARID1B CHD7 DNMT1 FANCA FANCD2 FGFR3
11 integument MP:0010771 10.16 ARID1B CC2D2A DNMT1 FGFR3 GPR161 KISS1R
12 embryo MP:0005380 10.14 CC2D2A CDON CHD7 DNMT1 FANCA GPR161
13 limbs/digits/tail MP:0005371 10.03 CC2D2A CDON CHD7 FANCD2 FGFR3 GPR161
14 reproductive system MP:0005389 9.93 CHD7 DNMT1 FANCA FANCD2 FANCG FGFR3
15 neoplasm MP:0002006 9.85 DNMT1 FANCA FANCD2 FGFR3 ROBO1 SMARCA2
16 renal/urinary system MP:0005367 9.8 ARID1B CC2D2A FGFR3 KISS1R ROBO1 SMARCA2
17 respiratory system MP:0005388 9.56 CC2D2A CDON CHD7 FGFR3 HESX1 LHX4
18 vision/eye MP:0005391 9.28 CC2D2A CDON CHD7 FANCA FANCD2 FGFR3

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 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ribavirin Approved Phase 3 36791-04-5 37542
Sofosbuvir Approved Phase 3 1190307-88-0 45375808
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
Budesonide Approved Phase 3 51333-22-3 63006 5281004
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
11 Anti-Infective Agents Phase 3
12 Antiviral Agents Phase 3
13 interferons Phase 3
14 Interferon-alpha Phase 3
15 Interferon alpha-2 Phase 3
16 Gastrointestinal Agents Phase 3
17 Antiemetics Phase 3
18 Methylprednisolone Acetate Phase 3
19 Neuroprotective Agents Phase 3
20 Protective Agents Phase 3
21 Antineoplastic Agents, Hormonal Phase 3
22 Plasma-lyte 148 Phase 3
23 Hormones Phase 3
24 Hormone Antagonists Phase 3
25 glucocorticoids Phase 3
26 Anti-Inflammatory Agents Phase 3
27 Adrenergic Agonists Phase 2, Phase 3
28 Respiratory System Agents Phase 2, Phase 3
29 Anti-Asthmatic Agents Phase 2, Phase 3
30 Adrenergic beta-Agonists Phase 2, Phase 3
31 Neurotransmitter Agents Phase 2, Phase 3
32 Pharmaceutical Solutions Phase 2, Phase 3
33 Adrenergic Agents Phase 2, Phase 3
34 Tocolytic Agents Phase 2, Phase 3
35 Albuterol Phase 2, Phase 3
36 Bronchodilator Agents Phase 2, Phase 3
Simeprevir Approved Phase 2 923604-59-5 66576988
Ledipasvir Approved Phase 2 1256388-51-8 67505836
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 6857599 43805
40 Antimetabolites Phase 2
protease inhibitors Phase 2
42 HIV Protease Inhibitors Phase 2
43 Ledipasvir, sofosbuvir drug combination Phase 2
44 Cola Phase 2
Testosterone Approved, Investigational 58-22-0 6013
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
tannic acid Approved 1401-55-4
Hydrocortisone Approved, Vet_approved 50-23-7 5754
Hydrocortisone acetate Approved, Vet_approved 50-03-3
Remifentanil Approved 132875-61-7 60815

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Hyperbaric Oxygen Therapy Treatment of Chronic Mild Traumatic Brain Injury (mTBI)/Persistent Post-Concussion Syndrome (PPCS) Unknown status NCT02089594 Phase 3 Hyperbaric Oxygen;No Hyperbaric Oxygen
2 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
3 A Phase 3, Multicenter, Randomized, Active-Controlled Study to Investigate the Safety and Efficacy of PSI-7977 and Ribavirin for 12 Weeks Compared to Pegylated Interferon and Ribavirin for 24 Weeks in Treatment-Naïve Patients With Chronic Genotype 2 or 3 HCV Infection Completed NCT01497366 Phase 3 Sofosbuvir;PEG;RBV
4 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)
5 Preventive VT Substrate Ablation in Patients With Chronic Post-MI Scar Showing Arrhythmogenic Characteristics Not yet recruiting NCT04675073 Phase 3
6 National Clinical Study, Multicentric, Single Arm to Evaluate the Efficacy and Safety of Busonid® (Budesonide 200 mcg and 400 mcg) to Treat Asthma Not Controlled or Partially Controlled Suspended NCT02853578 Phase 3 Busonid (budesonide 200mcg and 400mcg)
7 Prospective, Randomized, Multicenter Trial of Aerosolized Albuterol Versus Placebo in Acute Lung Injury Terminated NCT00434993 Phase 2, Phase 3 Albuterol Sulfate;Placebo
8 A Multi-center, Placebo-Controlled, Dose Ranging Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Following Oral Administration of PSI-7977 in Combination With Pegylated Interferon and Ribavirin in Treatment-Naïve Patients With Chronic HCV Infection Genotype 1, and an Open Label Assessment of PSI-7977 in Patients With HCV Genotypes 2 or 3 Completed NCT01188772 Phase 2 Sofosbuvir;Placebo to match sofosbuvir;PEG;RBV
9 QUANTUM: An International, Multi-center, Blinded, Randomized Study to Investigate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Following Administration of Regimens Containing PSI-352938, PSI-7977, and Ribavirin in Patients With Chronic Hepatitis C Virus (HCV) Infection Completed NCT01435044 Phase 2 Sofosbuvir;GS-0938;RBV;Placebo to match sofosbuvir;Placebo to match GS-0938
10 An Exploratory Phase IIa, Randomized, Open-Label Trial to Investigate the Efficacy and Safety of 12 Weeks or 24 Weeks of TMC435 in Combination With PSI-7977 (GS7977) With Or Without Ribavirin in Chronic Hepatitis C Genotype 1-Infected Prior Null Responders To Peginterferon/Ribavirin Therapy or HCV Treatment-Naive Subjects Completed NCT01466790 Phase 2 TMC435;PSI-7977 (GS7977);Ribavirin
11 A Multi-center, Double-Blind, Parallel Group, Randomized, Placebo-Controlled, Dose Ranging Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Following Oral Administration of PSI-7977 in Combination With Standard of Care (Pegylated Interferon and Ribavirin) in Treatment-Naïve Patients With Chronic HCV Infection Genotype 1 Completed NCT01054729 Phase 2 Sofosbuvir;Placebo;PEG;RBV
12 The ATOMIC Study: A Multicenter, Open-label, Randomized, Duration Finding Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Following Oral Administration of PSI-7977 in Combination With Pegylated Interferon and Ribavirin in Treatment-Naive Patients With Chronic HCV Infection Genotype 1,4, 5, or 6 Completed NCT01329978 Phase 2 Sofosbuvir;RBV;PEG
13 Parallel, Open-Label, Randomized Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of PSI-7977 in Combination With BMS-790052 With or Without Ribavirin in Treatment Naive Subjects Chronically Infected With Hepatitis C Virus Genotypes 1, 2, or 3 Completed NCT01359644 Phase 2 PSI-7977;Daclatasvir;Ribavirin
14 A Multi-center, Open-Labeled Exploratory Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Following Oral Administration of PSI-7977 400 mg and Ribavirin for 12 Weeks With and Without Pegylated Interferon in Treatment-Naïve Patients With Chronic HCV Infection Genotype 2 or Genotype 3 Completed NCT01260350 Phase 2 SOF;RBV;PEG;LDV;GS-9669;LDV/SOF
15 Adjuvant Pressurized IntraPeritoneal Aerosol Chemotherapy (PIPAC) in Resected High Risk Colon Cancer Patients - The PIPAC-OPC3 CC Trial Recruiting NCT03280511 Phase 2 PIPAC
16 Phase I Clinical Trial of Hyperbaric Oxygen Combined With Radiation and Chemotherapy for Locally Advanced Squamous Cell Carcinoma of the Head and Neck Completed NCT00474825 Phase 1 Hyperbaric Oxygen Therapy;Hyperbaric Oxygen;Hyperbaric oxygen;Hyperbaric oxygen
17 An Open-Label Study to Characterize the Pharmacokinetics and Pharmacodynamics of Multiple Oral Doses of PSI-7977 or PSI-352938 in HCV-infected Subjects With Varying Degrees of Hepatic Impairment Completed NCT01497327 Phase 1 PSI-352938;PSI-7977
18 A Double-Blind, Placebo-Controlled, Randomized, Single-Dose, 2-Period Crossover Study of the Pharmacodynamics of Orally Administered PSI-697 in Healthy Subjects Who Smoke Completed NCT03860506 Phase 1 PSI-697;Placebo
19 An Exploratory, Double Blind, Placebo-controlled, Randomized, Single-dose, Cross-over, Proof of Mechanism Study of Orally Administered PSI-697 in Patients With Scleritis Terminated NCT00367692 Phase 1 PSI-697
20 Efficacy of Pulsatile GnRH Therapy on Male Patients With Pituitary Stalk Interruption Syndrome Unknown status NCT02705014 Gonadotropin-releasing Hormone
21 Peroral Endoscopic Myotomy Versus Pneumatic Dilation for Esophageal Achalasia: a Prospective Randomized Controlled Trial Unknown status NCT01768091
22 The Correlation Between the Frontal Electromyography Parameter in Patient State Index (PSI) Monitor and Muscle Strength Monitor With Train of Four (TOF) in Patients Under General Anaesthesia Unknown status NCT03926650
23 Validity of PEEK PSI Containing Autogenous Bone Graft for Maxillary Reconstruction Following Lesion Enucleation Unknown status NCT03265795
24 Rheolytic Thrombectomy in Patients With Acute STEMI and Large Thrombus Burden Unknown status NCT02604394
25 Supraglottic Jet Oxygenation and Ventilation Via Nasal Approach During Laser Microlaryngeal Surgery for Vocal Polyps Resection Unknown status NCT03840876
26 Accuracy of Waferless One Stage Segmental Lefort I Maxillary Positioning in Transverse Deficiency Using CAD/CAM Patient Specific Titanium Implants (Case Series Study) Unknown status NCT03884699
27 A Prospective Trial Comparing POEM to Pneumatic Dilatation for Treatment of Achalasia Cardia Unknown status NCT02025790
28 National Taiwan University Hospital Unknown status NCT03077815
29 Ultrasound-guided Sacroiliac Joint Radiofrequency Ablation: A Pilot Study Completed NCT02335190 Lidocaine
30 Effects of Lumbosacral Chiropractic Spinal Manipulative Therapy on Muscle Strength, Range of Motion, Balance and Pain in Olympic Style Weightlifting Athletes Completed NCT04668729
31 Evaluation of a New Self-reported Tool for Periodontitis Screening. Completed NCT02754401
32 Mechanics of Knee Bracing Completed NCT00823888
33 Phase 3 Multicenter Study of Magnetic Mini-Mover for Pectus Excavatum Completed NCT01327274
34 Bilateral Simultaneous Total Knee Arthroplasty in Patients With Severe Articular Deformities Completed NCT01998321
35 Evaluation of Zimmer® CAS PSI X-Ray Knee in Total Knee Arthroplasty (TKA): Technical Outcomes Completed NCT02504112
36 Modelling Pharmacokinetic/Pharmacodynamic of Propofol Based on PSI Values From the SEDline® Completed NCT02706665
37 A Prospective, Multicenter Clinical Trial Of the PresVIEW Scleral Implant (PSI) For the Improvement Of Near Visual Acuity In Presbyopic Patients Completed NCT01166568
38 A Comparison Between Patient State Index (PSI) and Bispectral Index (BIS) as Technologies for Monitor in Depth of Anesthesia in Children: A Prospective Observational Trial Completed NCT03792334
39 The Influence of Psychobiological Adversity to Children and Adolescents With Type 1 Diabetes Completed NCT02575001
40 The Effect of Total Intravenous Anesthesia and Volatile Anesthesia on Shedding of the Endothelial Glycocalyx in Patients Undergoing Laparoscopic or Robotic Assisted Gastrectomy Completed NCT04183296 propofol;sevoflurane
41 The Impact of Real-Time Physiological Status Based Pacing Guidance on Physiological Strain for Exercising Humans Completed NCT02310334
42 Effect of Spectral Edge Frequency and Patient State Index (Electroencephalography) - Guided Anesthetic Care on Delirium After Laparoscopic Surgery: the EMODIPOD Randomized Controlled Trial Completed NCT03330236
43 Effect of Surface Pre-conditioning With Bioactive Glass Air-abrasion on the Clinical Performance of Composite Restorations in Non-carious Cervical Lesions Completed NCT04578717
44 A Multicenter, Prospective, Randomised Controlled Trial to Compare the Pressurized Irrigation Method With Conventional Practice of Swabbing for Wound Cleansing Completed NCT01885273
45 Health Related Lifestyle and Quality of Life in Children With Cerebral Palsy Completed NCT03277027
46 Patient Specific Instrumentation (PSI) Referencing Osteotomy Technological Transfer and Education - a PSI High Tibial Osteotomy, Double-blinded, Randomized Controlled Trial - the PROTECTED HTO (High Tibial Osteotomy) Trial Recruiting NCT04000672
47 Clinical Outcomes of Autologous Bone Marrow Aspirate Concentrate Injections for Musculoskeletal Conditions Recruiting NCT02981394
48 Establishing Normative Values for Thermal Detection and Pain Threshold Established by the Psi Method Recruiting NCT04611048
49 Establish Implant Accuracy With X-PSI Knee System - A Multi-center, Prospective, Non-controlled Post Market Study Recruiting NCT03275246
50 Attachment Representations of Children Born Prematurely in the Loire Infant Follow-up Team Cohort Recruiting NCT04304846

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:

Pituitary, Bone, Testis, Bone Marrow, Endothelial, Colon, Hypothalamus

Publications for Pituitary Stalk Interruption Syndrome

Articles related to Pituitary Stalk Interruption Syndrome:

(show top 50) (show all 732)
# Title Authors PMID Year
Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome. 61 6
28402530 2017
A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome. 6 61
26529631 2016
The ciliary G-protein-coupled receptor Gpr161 negatively regulates the Sonic hedgehog pathway via cAMP signaling. 6
23332756 2013
A new engineering process of biodegradable polymeric solid implants for ultra-long-acting drug delivery. 61
33392498 2021
Effective botulinum neurotoxin injection in treating iliopsoas spasticity. 61
32805076 2021
Emergency decompression and stabilization of 1st thoracic spinal cord injury and sacral fracture in a Covid-19 patient: A case report. 61
33688462 2021
Minimally Invasive Techniques for Iliac Bolt Placement: 2-Dimensional Operative Video. 61
33556166 2021
Characterising the nature of clinical incidents reported across a tertiary health service: a retrospective audit. 61
33684339 2021
Patient-specific desktop 3D-printed guides for pelvic tumour resection surgery: a precision study on cadavers. 61
33616839 2021
Clinical Symptoms and Magnetic Resonance Imaging Findings in Patients with Pituitary Stalk Interruption Syndrome. 61
33167044 2021
Rasch Analysis of Patient- and Parent-Reported Outcome Measures in the International Consortium for Health Outcomes Measurement Standard Set for Cleft Lip and Palate. 61
33641775 2021
Computer-Assisted Secondary Orbital Reconstruction. 61
33613833 2021
Reconstruction of mandible using a computer-designed 3D-printed patient-specific titanium implant: a case report. 61
32725572 2021
Desmopressin Suppresses Gonadotropin-Induced Spermatogenesis in Patients With Pituitary Stalk Interruption Syndrome: A Retrospective, Single-Center Cohort Study. 61
33563411 2021
Prevalence of brain MRI findings in children with nonacquired growth hormone deficiency: a systematic review and meta-analysis. 61
33611620 2021
Pelvic Sagittal Torsion Caused by Induced Leg Length Discrepancy: Geometrical Illusion May Influence Measures Based on Superior-iliac Spines Positions. 61
33431280 2021
Mitigating imperfect data validity in administrative data PSIs: a method for estimating true adverse event rates. 61
33544120 2021
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort. 61
33098107 2021
ExonSkipAD provides the functional genomic landscape of exon skipping events in Alzheimer's disease. 61
33497435 2021
Patient Safety Indicators are an insufficient performance metric to track and grade outcomes of open aortic repair. 61
32442611 2021
Lumbar Erector Spinae Plane Block for Posterior-Superior Iliac Spine Bone Graft Site Pain in Patients Undergoing Occipitocervical and C1-C2 Fusion for Atlantoaxial Dislocation/Odontoid Fracture-A Case Series. 61
33531787 2021
Iliac screw instrumentation to the pelvis in children with neuromuscular and syndromic scoliosis. No lateral connectors and respect sagittal balance. 61
33492654 2021
Effect of Postoperative Adverse Events on Hospitalization Expenditures and Length of Stay Among Surgery Patients in Taiwan: A Nationwide Population-Based Case-Control Study. 61
33644091 2021
Composition and risk assessment of perioperative patient safety incidents reported by anesthesiologists from 2009 to 2019: a single-center retrospective cohort study. 61
33413123 2021
Developing a short-form version of the HIV Disability Questionnaire (SF-HDQ) for use in clinical practice: a Rasch analysis. 61
33407538 2021
Reconstruction of knee anatomy from single-plane fluoroscopic x-ray based on a nonlinear statistical shape model. 61
33457444 2021
Extinction and discrimination in a Bayesian model of context fear conditioning (BaconX). 61
33452843 2021
In-Hospital 3D Printed Scaphoid Prosthesis Using Medical-Grade Polyetheretherketone (PEEK) Biomaterial. 61
33506009 2021
Structural validity of the Finnish Manchester-Oxford Foot Questionnaire (MOXFQ) using the Rasch model. 61
32122782 2021
Topology optimization of a mandibular reconstruction plate and biomechanical validation. 61
33187871 2021
Patient-specific implants for maxillofacial defects: challenges and solutions. 61
32467823 2020
Presentation and short-term evaluation of an all-in-one patient-specific implant for cranial reconstruction: A randomized controlled trial. 61
32507404 2020
Morphometric study of sciatic nerve and its topographic anatomical variations in relation to landmark structures around pelvis: a Nigerian population study. 61
33330968 2020
Evaluation of decellularization protocols for production of porcine small intestine submucosa for use in abdominal wall reconstruction. 61
31041557 2020
Equity and economic evaluation of system-level health interventions: A case study of Brazil's Family Health Program. 61
33386400 2020
Surgical Outcomes of Orbital Fracture Reconstruction Using Patient-Specific Implants. 61
33524325 2020
Pituitary stalk interruption syndrome: A rare case report and literature review. 61
33327247 2020
Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening. 61
33107432 2020
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
A systematically collated library of prescribing safety indicators for people with chronic kidney disease. 61
33208126 2020
Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms. 61
33311939 2020
A Comparison of Surgical Quality and Patient Satisfaction Indicators Between VA Hospitals and Hospitals Near VA Hospitals. 61
32599453 2020
A novel role of the calcium sensor CBL1 in response to phosphate deficiency in Arabidopsis thaliana. 61
32854072 2020
PSI relieves the pressure of membrane fusion. 61
33097646 2020
Comorbidity Burden and Presence of Multiple Intracranial Lesions Are Associated with Adverse Events after Surgical Treatment of Patients with Brain Metastases. 61
33142701 2020
A screw view model of navigation guided minimal invasive percutaneous pelvic screws insertion for lateral compression pelvic ring injuries: A case report. 61
33019385 2020
The relationship between the perception of open disclosure of patient safety incidents, perception of patient safety culture, and ethical awareness in nurses. 61
33109160 2020
Late reconstruction of extensive orbital floor fracture with a patient-specific implant in a bombing victim. 61
33122461 2020
Association of patient safety indicator 03 and clinical outcome in a surgery hospital. 61
33098399 2020
Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development. 61
33108146 2020

Variations for Pituitary Stalk Interruption Syndrome

ClinVar genetic disease variations for Pituitary Stalk Interruption Syndrome:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDON NM_001378964.1(CDON):c.2764G>A (p.Glu922Lys) SNV Pathogenic 978570 GRCh37: 11:125859541-125859541
GRCh38: 11:125989646-125989646
2 NSMF NM_001130969.3(NSMF):c.53C>A (p.Ser18Ter) SNV Pathogenic 978574 GRCh37: 9:140353502-140353502
GRCh38: 9:137459050-137459050
3 FANCA NM_000135.4(FANCA):c.1193_1196del (p.Val398fs) Deletion Pathogenic 974009 GRCh37: 16:89858364-89858367
GRCh38: 16:89791956-89791959
4 ROBO1 NM_002941.4(ROBO1):c.3450C>A (p.Tyr1150Ter) SNV Pathogenic/Likely pathogenic 978579 GRCh37: 3:78683116-78683116
GRCh38: 3:78633966-78633966
5 ROBO1 NM_002941.4(ROBO1):c.2929del (p.Ala977fs) Deletion Pathogenic/Likely pathogenic 978576 GRCh37: 3:78689002-78689002
GRCh38: 3:78639852-78639852
6 FANCG NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) SNV Likely pathogenic 929679 GRCh37: 9:35078653-35078653
GRCh38: 9:35078656-35078656
7 DNMT1 NM_001130823.3(DNMT1):c.2858A>G (p.Asp953Gly) SNV Likely pathogenic 978575 GRCh37: 19:10257063-10257063
GRCh38: 19:10146387-10146387
8 GPR161 NM_001267609.1(GPR161):c.56T>A (p.Leu19Gln) SNV Likely pathogenic 180652 rs200635937 GRCh37: 1:168074093-168074093
GRCh38: 1:168104855-168104855
9 KISS1R NM_032551.5(KISS1R):c.710G>C (p.Arg237Pro) SNV Likely pathogenic 978562 GRCh37: 19:920078-920078
GRCh38: 19:920078-920078
10 SMARCA2 NM_003070.5(SMARCA2):c.787T>A (p.Ser263Thr) SNV Likely pathogenic 978583 GRCh37: 9:2039897-2039897
GRCh38: 9:2039897-2039897
11 ROBO1 NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) SNV Conflicting interpretations of pathogenicity 978578 GRCh37: 3:78766972-78766972
GRCh38: 3:78717822-78717822
12 PMM2 NM_000303.3(PMM2):c.255_256del (p.Asn86fs) Deletion Uncertain significance 978577 GRCh37: 16:8898699-8898700
GRCh38: 16:8804842-8804843
13 CC2D2A NM_001378615.1(CC2D2A):c.2356G>A (p.Glu786Lys) SNV Uncertain significance 978561 GRCh37: 4:15554798-15554798
GRCh38: 4:15553175-15553175
14 FGFR3 NM_000142.5(FGFR3):c.875A>T (p.Glu292Val) SNV Uncertain significance 978565 GRCh37: 4:1803697-1803697
GRCh38: 4:1801970-1801970
15 SOX11 NM_003108.4(SOX11):c.885C>G (p.Asp295Glu) SNV Uncertain significance 978566 GRCh37: 2:5833738-5833738
GRCh38: 2:5693606-5693606
16 TBX19 NM_005149.3(TBX19):c.603+6delinsGTGTTTGT Indel Uncertain significance 978567 GRCh37: 1:168262522-168262522
GRCh38: 1:168293284-168293284
17 RAF1 NM_001354689.3(RAF1):c.1816G>C (p.Ala606Pro) SNV Uncertain significance 978568 GRCh37: 3:12626393-12626393
GRCh38: 3:12584894-12584894
18 LOC107303338 , FANCD2 NM_001018115.3(FANCD2):c.1278_1278+6del Deletion Uncertain significance 978569 GRCh37: 3:10088406-10088412
GRCh38: 3:10046722-10046728
19 PTCH1 NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp) SNV Uncertain significance 659978 rs773043616 GRCh37: 9:98209609-98209609
GRCh38: 9:95447327-95447327
20 GLI2 NM_001374353.1(GLI2):c.2404G>A (p.Val802Met) SNV Uncertain significance 978571 GRCh37: 2:121745945-121745945
GRCh38: 2:120988369-120988369
21 VPS13B NM_152564.5(VPS13B):c.4224+707C>G SNV Uncertain significance 978572 GRCh37: 8:100520138-100520138
GRCh38: 8:99507910-99507910
22 ARID1B NM_001374828.1(ARID1B):c.5384A>T (p.Asn1795Ile) SNV Uncertain significance 978573 GRCh37: 6:157525120-157525120
GRCh38: 6:157203986-157203986
23 ROBO1 NM_002941.4(ROBO1):c.1690C>T (p.Pro564Ser) SNV Uncertain significance 995978 GRCh37: 3:78717393-78717393
GRCh38: 3:78668243-78668243
24 NBAS NM_015909.4(NBAS):c.1118T>C (p.Leu373Pro) SNV Uncertain significance 978580 GRCh37: 2:15618379-15618379
GRCh38: 2:15478255-15478255
25 SLX4 NM_032444.4(SLX4):c.3143C>T (p.Ser1048Phe) SNV Uncertain significance 978581 GRCh37: 16:3640496-3640496
GRCh38: 16:3590495-3590495
26 CHD7 NM_017780.4(CHD7):c.6476C>A (p.Ser2159Tyr) SNV Uncertain significance 978582 GRCh37: 8:61765760-61765760
GRCh38: 8:60853201-60853201

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
Show member pathways

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 SWI/SNF complex GO:0016514 9.16 SMARCA2 ARID1B
2 nBAF complex GO:0071565 8.96 SMARCA2 ARID1B
3 Fanconi anaemia nuclear complex GO:0043240 8.62 FANCG FANCA

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

# Name GO ID Score Top Affiliating Genes
1 chromatin remodeling GO:0006338 9.5 SMARCA2 CHD7 ARID1B
2 regulation of DNA-binding transcription factor activity GO:0051090 9.43 FANCD2 FANCA
3 camera-type eye development GO:0043010 9.43 HESX1 CHD7 CC2D2A
4 aorta development GO:0035904 9.4 ROBO1 CHD7
5 regulation of regulatory T cell differentiation GO:0045589 9.37 FANCD2 FANCA
6 nose development GO:0043584 9.16 HESX1 CHD7
7 interstrand cross-link repair GO:0036297 9.13 FANCG FANCD2 FANCA
8 regulation of CD40 signaling pathway GO:2000348 8.62 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 WDR11 SMARCA2 ROBO1 PROKR2 NSMF LHX4
2 methyl-CpG binding GO:0008327 8.96 LHX4 DNMT1
3 hydrolase activity, acting on acid anhydrides GO:0016817 8.62 SMARCA2 CHD7

Sources for Pituitary Stalk Interruption Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
Loading form....