NPH
MCID: NRM002
MIFTS: 56

Normal Pressure Hydrocephalus (NPH)

Categories: Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Normal Pressure Hydrocephalus

MalaCards integrated aliases for Normal Pressure Hydrocephalus:

Name: Normal Pressure Hydrocephalus 12 53 58 36 6 15 17
Hydrocephalus - Normal Pressure 53
Hydrocephalus, Normal Pressure 43
Hydrocephalus Normal Pressure 54
Chronic Adult Hydrocephalus 58
Low Pressure Hydrocephalus 12
Nph 58

Characteristics:

Orphanet epidemiological data:

58
normal pressure hydrocephalus
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1572
KEGG 36 H01676
MeSH 43 D006850
SNOMED-CT 67 30753002 69663004
ICD10 32 G91.2
ICD10 via Orphanet 33 G91.2
UMLS via Orphanet 72 C0020258
Orphanet 58 ORPHA314928
UMLS 71 C0020258

Summaries for Normal Pressure Hydrocephalus

NINDS : 53 Normal pressure hydrocephalus (NPH) is an abnormal buildup of cerebrospinal fluid (CSF) in the brain's ventricles, or cavities. It occurs if the normal flow of CSF throughout the brain and spinal cord is blocked in some way. This causes the ventricles to enlarge, putting pressure on the brain. Normal pressure hydrocephalus can occur in people of any age, but it is most common in the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery. However, many people develop NPH even when none of these factors are present. In these cases the cause of the disorder is unknown. Symptoms of NPH include progressive mental impairment and dementia, problems with walking, and impaired bladder control. The person also may have a general slowing of movements or may complain that his or her feet feel "stuck." Because these symptoms are similar to those of other disorders such as Alzheimer's disease, Parkinson's disease, and Creutzfeldt-Jakob disease, the disorder is often misdiagnosed. Many cases go unrecognized and are never properly treated. Doctors may use a variety of tests, including brain scans (CT and/or MRI), a spinal tap or lumbar catheter, intracranial pressure monitoring, and neuropsychological tests, to help them diagnose NPH and rule out other conditions.

MalaCards based summary : Normal Pressure Hydrocephalus, also known as hydrocephalus - normal pressure, is related to vascular dementia and binswanger's disease. An important gene associated with Normal Pressure Hydrocephalus is CFAP43 (Cilia And Flagella Associated Protein 43), and among its related pathways/superpathways are Neuroscience and p75(NTR)-mediated signaling. The drugs Citalopram and Serotonin Uptake Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related phenotypes are progressive gait ataxia and poor fine motor coordination

KEGG : 36 Normal pressure hydrocephalus (NPH) is a progressive brain disease characterized by gait impairment, urinary incontinence, and dementia, and by ventricular enlargement in the absence of elevated intracranial pressure. NPH can be secondary to disease processes that cause inflammation of the arachnoid, such as subarachnoid hemorrhage, traumatic brain injury, or meningitis. As many as half of patients with NPH have no identifiable risk factor, and it is called idiopathic normal pressure hydrocephalus (INPH). Although INPH is usually considered an acquired form of hydrocephalus because the onset of symptoms is not until late in life, it has been reported that a subset of patients with INPH may actually have congenital hydrocephalus. Symptoms can be alleviated with a cerebrospinal fluid (CSF) shunt.

Wikipedia : 74 Normal-pressure hydrocephalus (NPH), also called communicating hydrocephalus[citation needed] and... more...

Related Diseases for Normal Pressure Hydrocephalus

Diseases in the Normal Pressure Hydrocephalus family:

Hydrocephalus, Normal-Pressure, 1

Diseases related to Normal Pressure Hydrocephalus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 370)
# Related Disease Score Top Affiliating Genes
1 vascular dementia 31.2 SERPINA3 PSEN1 MAPT APP APOE
2 binswanger's disease 31.1 VIP MAPT APP APOE
3 hydrocephalus, normal-pressure, 1 31.1 PMPCA CFAP43
4 cerebrovascular disease 31.1 TTR SERPINA3 MAPT APP APOE
5 apraxia 31.1 PSEN1 MAPT C9orf72 APOE
6 sleep apnea 31.1 HCRT BDNF APOE
7 traumatic brain injury 30.8 BDNF AQP4 APOE
8 amnestic disorder 30.7 PSEN1 BDNF APP APOE
9 obsessive-compulsive disorder 30.7 NPY C9orf72 BDNF APOE
10 meningoencephalitis 30.6 PSEN1 BDNF APP
11 dysgraphia 30.6 MAPT C9orf72
12 brain injury 30.5 MAPT BDNF AQP4 APOE
13 hydrocephalus 30.5 VIP TTR SFMBT1 SERPINA3 PTGDS PSEN1
14 supranuclear palsy, progressive, 1 30.5 SERPINA3 PSEN1 MAPT HCRT C9orf72 APP
15 anosognosia 30.5 C9orf72 APOE
16 agraphia 30.4 MAPT C9orf72
17 frontotemporal dementia 30.4 PSEN1 NPY MAPT HCRT C9orf72 APP
18 diabetes mellitus, noninsulin-dependent 30.4 TTR SERPINA3 NPY BDNF APP APOE
19 huntington disease 30.4 PSEN1 NPY MAPT HCRT BDNF APP
20 prosopagnosia 30.3 MAPT C9orf72
21 dementia 30.3 TTR SERPINA3 PSEN1 MAPT HCRT C9orf72
22 communicating hydrocephalus 30.2 SFMBT1 SERPINA3 PTGDS PSEN1 MIR4274 MAPT
23 aceruloplasminemia 30.1 SERPINA3 PSEN1 MAPT C9orf72 APP
24 optic nerve disease 30.1 SERPINA3 BDNF AQP4
25 creutzfeldt-jakob disease 30.0 SERPINA3 MAPT CLU BDNF AQP4 APP
26 cerebral amyloid angiopathy, cst3-related 30.0 TTR SERPINA3 PSEN1 MAPT CLU APP
27 peripheral nervous system disease 29.9 TTR SERPINA3 BDNF AQP4 APP
28 aphasia 29.8 PSEN1 MAPT C9orf72 BDNF APP APOE
29 amyloidosis 29.7 TTR SERPINA3 PSEN1 MAPT CLU APP
30 dementia, lewy body 29.7 SERPINA3 PSEN1 MAPT CLU C9orf72 BDNF
31 parkinson disease, late-onset 29.7 TTR SERPINA3 PSEN1 MAPT HCRT C9orf72
32 pick disease of brain 29.3 SERPINA3 PSEN1 MAPT CLU C9orf72 BDNF
33 alzheimer disease 29.3 TTR SERPINA3 PSEN1 NPY MAPT HCRT
34 amyotrophic lateral sclerosis 1 29.2 SERPINA3 PSEN1 MAPT C9orf72 BDNF APP
35 schizophrenia 29.1 SERPINA3 NPY MAPT HCRT C9orf72 BDNF
36 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 12.7
37 nephronophthisis 12.1
38 congenital hydrocephalus 11.5
39 arima syndrome 11.3
40 focal segmental glomerulosclerosis 2 11.3
41 nephrotic syndrome, type 1 11.2
42 focal segmental glomerulosclerosis 1 11.2
43 focal segmental glomerulosclerosis 3 11.2
44 focal segmental glomerulosclerosis 4 11.2
45 focal segmental glomerulosclerosis 5 11.2
46 hydrocephalus, congenital, 1 10.8
47 cerebral atrophy 10.6
48 residual stage of open angle glaucoma 10.6 APP APOE
49 senile plaque formation 10.6 APP APOE
50 leprosy 2 10.6 VIP NPY

Graphical network of the top 20 diseases related to Normal Pressure Hydrocephalus:



Diseases related to Normal Pressure Hydrocephalus

Symptoms & Phenotypes for Normal Pressure Hydrocephalus

Human phenotypes related to Normal Pressure Hydrocephalus:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007240
2 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
3 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
4 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
5 weak voice 58 31 frequent (33%) Frequent (79-30%) HP:0001621
6 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
7 shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002362
8 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
9 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
10 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
11 impaired visuospatial constructive cognition 58 31 frequent (33%) Frequent (79-30%) HP:0010794
12 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
13 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
14 poor gross motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007015
15 inertia 58 31 frequent (33%) Frequent (79-30%) HP:0030216
16 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
17 personality disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0012075
18 deficit in phonologic short-term memory 58 31 occasional (7.5%) Occasional (29-5%) HP:0002549
19 memory impairment 58 Frequent (79-30%)
20 specific learning disability 58 Occasional (29-5%)
21 mental deterioration 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Normal Pressure Hydrocephalus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 APOD APOE APP AQP4 BDNF C9orf72
2 homeostasis/metabolism MP:0005376 10.17 APOD APOE APP AQP4 BDNF C9orf72
3 cardiovascular system MP:0005385 10.11 APOD APOE APP AQP4 C9orf72 CLU
4 nervous system MP:0003631 10.03 APOD APOE APP AQP4 BDNF C9orf72
5 no phenotypic analysis MP:0003012 9.76 APOE APP AQP4 BDNF C9orf72 MAPT
6 renal/urinary system MP:0005367 9.5 APOE AQP4 CLU MAPT NPY PSEN1
7 respiratory system MP:0005388 9.17 APOE AQP4 BDNF C9orf72 HCRT PSEN1

Drugs & Therapeutics for Normal Pressure Hydrocephalus

Drugs for Normal Pressure Hydrocephalus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2 Serotonin Uptake Inhibitors Phase 4
3 Neurotransmitter Agents Phase 4
4 Muscarinic Antagonists Phase 4
5 Serotonin Agents Phase 4
6 Cholinergic Agents Phase 4
7 Cholinergic Antagonists Phase 4
8 Serotonin Receptor Agonists Phase 4
9
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
10
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
11 Flutemetamol Investigational Phase 3 637003-10-2
12 Anesthetics Phase 2, Phase 3
13 Pharmaceutical Solutions Phase 2, Phase 3
14 Anti-Infective Agents, Local Phase 2, Phase 3
15 Radiopharmaceuticals Phase 3
16 Natriuretic Agents Phase 3
17 Anticonvulsants Phase 3
18 Carbonic Anhydrase Inhibitors Phase 3
19 diuretics Phase 3
20 Liver Extracts Phase 2
21 Mitogens

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 A Double- Blinded Comparison of the Accuracy of ShuntCheck, a Non-Invasive Device, to Radionuclide Shunt Patency Test in Evaluating Shunt Function in Patients With Adult Hydrocephalus With Possible Shunt Obstruction Completed NCT01323764 Phase 4
2 Efficacy and Safety of SSRI in Overactive Bladder Patients; a 3-month, Prospective, Open-label, Comparative Study Completed NCT00902421 Phase 4 Selective serotonin reuptake inhibitors;Antimuscarinics
3 Accuracy of ShuntCheck and MRI in Detection of Shunt Obstruction in Patients Receiving Shunt Patency Test Withdrawn NCT00793416 Phase 4
4 Scientific Research and Development of Innovative Evidence Based Non-invasive Brain Diagnostic and Monitoring Solutions for Neurological and Traumatic Brain Injury Patients Unknown status NCT02130219 Phase 2, Phase 3
5 A Principal, Open-Label, Single Center Study to Validate the Detection of Cerebral Cortical Amyloid With Flutemetamol (18F) Injection in Subjects Previously Biopsied Completed NCT01053312 Phase 3 [18F] Flutemetamol
6 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
7 A Principal, Prospective, Open-label Biopsy Study to Validate Detection of Cerebral Cortical Amyloid With Flutemetamol (18F) Injection in Normal Pressure Hydrocephalus (NPH) Subjects. Terminated NCT01092546 Phase 3 [18F]Flutemetamol
8 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
9 Clinical Study of Idiopathic Normal Pressure Hydrocephalus for Neurological Improvement Completed NCT00221091 Phase 2
10 Acetazolamide for Treating NPH in Shunt-candidates Patients: an Open Label Feasibility Trial Recruiting NCT03779594 Phase 2 Acetazolamide
11 Computerised Testing of Cognitive Response to Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT01618500
12 The Brain Structure and Neural Network Changing the Before and After Ventriculo-peritoneal Shunting in the Normal Pressure Hydrocephalus Patients Unknown status NCT03092804
13 A Prospective Single-centre Trial Investigating Novel Parameters for the Prediction of Ventriculoperitoneal Shunting Efficacy in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT02495610
14 European Multicenter Study on the Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT00874198
15 Multimodal Investigation in the Diagnosis and Treatment of Chronic Adult Hydrocephalus Unknown status NCT02278848
16 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
17 Are Intracranial Pressure Waves Measurable Through Lumbar Puncture? Completed NCT01374048
18 Evaluation of a Computerised Neuropsychological Test Battery for Idiopathic Normal Pressure Hydrocephalus (INPH) Completed NCT01265251
19 Vascular Risk Factors, Subclinical and Manifest Vascular Disease in Patients With Idiopathic Normal Pressure Hydrocephalus Completed NCT01850914
20 Normal Pressure Hydrocephalus (NPH) Registry Completed NCT00233701
21 Novel Infusion Method for Describing CSF Dynamics Completed NCT01319136
22 Predictive Value of Flow MRI in Normal Pressure Hydrocephalus Surgery Completed NCT01815775 Early Phase 1
23 Prognostic Value of Transforming Growth Factor-Beta 1 in Normal Pressure Hydrocephalus Completed NCT00600795
24 Cerebrospinal Fluid Proteome in Hydrocephalus Completed NCT02016352
25 A Study Comparing Shunt Placement Versus Endoscopic Third Ventriculostomy in the Treatment of Hydrocephalus Completed NCT01115270
26 Efficacy of Shunt Surgery in Normal Pressure Hydrocephalus: a Randomized Cross-over Study Completed NCT01798641
27 A Randomized Trial of High and Low Pressure Level Settings on a Programmable Ventriculoperitoneal Shunt Valve for Idiopathic Normal Pressure Hydrocephalus. Results of the Dutch Evaluation Program Strata Shunt (DEPSS) Trial Completed NCT01570257
28 VALUE OF RADIONUCLIDE CISTERNOGRAPHY IN PATIENTS WITH CEREBROSPINAL FLUID LEAK Completed NCT02876614
29 The Pathogenesis of Terson Syndrome and the Role of CSF Tau / Amyloid-ß 40 and 42 in Patients With Aneurysmatic Subarachnoid Hemorrhage Completed NCT02129010
30 Comparison of Continuous Noninvasive and Invasive Intracranial Pressure Measurement--Celda Infusion Subprotocol Completed NCT01976559
31 Endoscopic Third Ventriculostomy Versus Ventriculo-peritoneal Shunting in Idiopathic Normal Pressure Hydrocephalus Recruiting NCT03245138
32 A Placebo-Controlled Effectiveness in INPH Shunting (PENS) Trial: Proof of Concept Recruiting NCT03350750
33 Effects of Physical Training in Shunt-operated Patients With Idiopathic Normal Pressure Hydrocephalus Recruiting NCT02659111
34 Effect of Depletive Lumbar Puncture and Cerebrospinal Fluid Shunt Surgery on Lower Urinary Tract Dysfunction in Normal Pressure Hydrocephalus Recruiting NCT03877107
35 Assessment of Cerebrospinal Fluid Flow Related Disorders Using a Phase-contrast Magnetic Resonance Imaging Technique. Recruiting NCT03656016
36 Neuropsychometric Testing With Conner's Continual Performance Test -3 in Normal Pressure Hydrocephalus Recruiting NCT03521518
37 Neurology Inpatient Clinical Education Trial Recruiting NCT03826056
38 Benefit of Flow Magnetic Resonance Imaging in the Management of Normal Pressure Hydrocephalus Active, not recruiting NCT01909960
39 Magnetic Resonance Elastography in Hydrocephalus Active, not recruiting NCT02230124
40 Estimation of Intracranial Pressure Using Non-invasive Fundus Videos Active, not recruiting NCT03382860
41 Assessment of ShuntCheck Performance Characteristics in Asymptomatic Patients With Normal Pressure Hydrocephalus Enrolling by invitation NCT04011566
42 Using Cerebrospinal Fluid Dynamics to Identify Shunt Responders in Idiopathic Normal Pressure Hydrocephalus and to Optimize Postoperative Clinical Improvement While Minimizing Overdrainage Related Complications - A Double Blind Randomized Study Enrolling by invitation NCT03076723
43 Mapping Functional Networks of Brain Activity (Brain Network Activation, BNA) Based on Analysis of Evoked Response Potential (ERP) EEG Signals in Patients With Movement Disorders Not yet recruiting NCT03269201
44 Conservative Versus Surgical Management of Idiopathic Normal Pressure Hydrocephalus Terminated NCT00727142
45 Endoscopic Third Ventriculostomy (ETV) Versus Ventriculoperitoneal Shunting (VPS) for the Surgical Management of Normal Pressure Hydrocephalus Terminated NCT00946127
46 Prognostic Value of Aβ Imaging in NPH Prior to Shunt Placement Terminated NCT01834625
47 Factors Predicting Response to Shunting in Normal Pressure Hydrocephalus Terminated NCT00613886
48 Anterior Pituitary Function in Patients With Hydrocephalus Terminated NCT00149721
49 Reliability and Validity of Umea Computerized Neuropsychological Battery Terminated NCT01421446
50 Evaluating the Impact of Cerebral Ischemic And Degenerative Changes On Cognition Terminated NCT00704327

Search NIH Clinical Center for Normal Pressure Hydrocephalus

Cochrane evidence based reviews: hydrocephalus, normal pressure

Genetic Tests for Normal Pressure Hydrocephalus

Anatomical Context for Normal Pressure Hydrocephalus

MalaCards organs/tissues related to Normal Pressure Hydrocephalus:

40
Brain, Testes, Spinal Cord, Pituitary, Bone, Cortex, T Cells

Publications for Normal Pressure Hydrocephalus

Articles related to Normal Pressure Hydrocephalus:

(show top 50) (show all 2548)
# Title Authors PMID Year
1
Quantitative analysis of transthyretin, tau and amyloid-beta in patients with dementia. 54 61
18525124 2008
2
Alzheimer's disease-related changes in diseases characterized by elevation of intracranial or intraocular pressure. 54 61
18061341 2008
3
Cerebrospinal fluid tau, phospho-tau181 and beta-amyloid1-42 in idiopathic normal pressure hydrocephalus: a discrimination from Alzheimer's disease. 54 61
17250725 2007
4
Cerebrospinal fluid orexin in aneurysmal subarachnoid haemorrhage - a pilot study. 54 61
16150596 2005
5
Immunoreactivities of amyloid beta peptide((1-42)) and total tau protein in lumbar cerebrospinal fluid of patients with normal pressure hydrocephalus. 54 61
14991454 2004
6
Lipocalin-type prostaglandin D synthase (beta-trace) in cerebrospinal fluid: a useful marker for the diagnosis of normal pressure hydrocephalus. 54 61
14630351 2003
7
[Biological markers for Alzheimer disease]. 54 61
12806899 2003
8
Shunt related changes in somatostatin, neuropeptide Y, and corticotropin releasing factor concentrations in patients with normal pressure hydrocephalus. 54 61
11181849 2001
9
Neuropeptide Y cerebrospinal fluid levels in patients with normal pressure hydrocephalus syndrome. 54 61
8080906 1994
10
A prospective study on gait dominant normal pressure hydrocephalus. 61
31512225 2020
11
Negative predictors of shunt surgery outcome in normal pressure hydrocephalus. 61
31778218 2020
12
A new index for assessing cerebral ventricular volume in idiopathic normal-pressure hydrocephalus: a comparison with Evans' index. 61
32008047 2020
13
The utility of Montreal cognitive assessment in a cerebrospinal fluid tap test in patients with idiopathic normal pressure hydrocephalus? 61
31838453 2020
14
Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). 61
31705326 2020
15
Elemental fingerprint: Reassessment of a cerebrospinal fluid biomarker for Parkinson's disease. 61
31733347 2020
16
A systematic review on the epidemiology of normal pressure hydrocephalus. 61
31622497 2020
17
Neuroimaging of Normal Pressure Hydrocephalus and Hydrocephalus. 61
31761057 2020
18
Diffusion tensor imaging in idiopathic normal pressure hydrocephalus: clinical and CSF flowmetry correlations. 61
31771415 2020
19
Linear vs volume measures of ventricle size: Relation to present and future gait and cognition. 61
31748251 2020
20
The benefit of delayed reassessment post high-volume CSF removal in the diagnosis of shunt-responsive idiopathic normal-pressure hydrocephalus. 61
31843431 2020
21
Risk factors for developing subdural hematoma: a registry-based study in 1457 patients with shunted idiopathic normal pressure hydrocephalus. 61
31923893 2020
22
Flow-regulated versus differential pressure valves for idiopathic normal pressure hydrocephalus: comparison of overdrainage rates and neurological outcome. 61
31713158 2020
23
Blood-brain barrier leakage of blood proteins in idiopathic normal pressure hydrocephalus. 61
31712085 2020
24
A Novel Deep Learning Approach with a 3D Convolutional Ladder Network for Differential Diagnosis of Idiopathic Normal Pressure Hydrocephalus and Alzheimer's Disease. 61
31969525 2020
25
Phase-Contrast MRI: Physics, Techniques, and Clinical Applications. 61
31917664 2020
26
Biomechanical response of the CNS is associated with frailty in NPH-suspected patients. 61
31997040 2020
27
Structural volumetry in NPH diagnostics and treatment-future or dead end? 61
31980974 2020
28
Normal Pressure Hydrocephalus: Clinical Symptoms, Cerebrospinal Fluid Flow Metrics and White Matter Changes. 61
31939883 2020
29
Toscana virus associated with Guillain-Barré syndrome: a case-control study. 61
31970702 2020
30
Phosphatidylcholine PC ae C44:6 in cerebrospinal fluid is a sensitive biomarker for bacterial meningitis. 61
31910875 2020
31
Glymphatic System Impairment in Alzheimer's Disease and Idiopathic Normal Pressure Hydrocephalus. 61
31959516 2020
32
The prevalence and clinical associations of disproportionately enlarged subarachnoid space hydrocephalus (DESH), an imaging feature of idiopathic normal pressure hydrocephalus in community and memory clinic based Singaporean cohorts. 61
31810041 2020
33
Radiological markers of idiopathic normal pressure hydrocephalus: Relative comparison of their diagnostic performance. 61
31760225 2020
34
Diagnostic imaging of dementia with Lewy bodies, frontotemporal lobar degeneration, and normal pressure hydrocephalus. 61
31549279 2020
35
Ventriculoperitoneal shunt in treating of idiopathic normal pressure hydrocephalus-single-center study. 61
31728709 2020
36
Timing of intraventricular infusion test for diagnosing idiopathic normal pressure hydrocephalus. 61
31912355 2020
37
The effects of cerebrospinal fluid tap-test on idiopathic normal pressure hydrocephalus: an inertial sensors based assessment. 61
31948485 2020
38
Ciliary Dysfunction: The Hairy Explanation of Normal Pressure Hydrocephalus? 61
31970208 2020
39
Revisiting the diagnostic value of Evans' index: lessons from an unusual case of normal pressure hydrocephalus with Evans' index less than 0.3. 61
31214869 2019
40
Pathological mitochondria in neurons and perivascular astrocytic endfeet of idiopathic normal pressure hydrocephalus patients. 61
31849332 2019
41
Standardized image evaluation in patients with idiopathic normal pressure hydrocephalus: consistency and reproducibility. 61
31399851 2019
42
Home physical exercise program: analysis of the impact on the clinical evolution of patients with normal pressure hydrocephalus. 61
31939583 2019
43
Efficacy of difusion tensor imaging in the perioperative evaluation of corticospinal tracts and gait improvement in normal pressure hydrocephalus. 61
29480685 2019
44
Surgical Indications and Operative Results of Lumbosubarachnoid-Lumboepidural Shunting in 29 Patients with Idiopathic Normal Pressure Hydrocephalus under Local Anesthesia. 61
31619602 2019
45
Changes in Callosal Angle After Successful Endoscopic Third Ventriculostomy Procedure in Pediatric Patients. 61
32020574 2019
46
Laparoscopic-Assisted Ventriculoperitoneal Shunt Placement and Reduction in Operative Time and Total Hospital Charges. 61
31874294 2019
47
Current Update on Treatment Strategies for Idiopathic Normal Pressure Hydrocephalus. 61
31792620 2019
48
Early Postoperative Outcomes of Normal Pressure Hydrocephalus: Results of a Service Evaluation. 61
31834248 2019
49
Idiopathic Normal Pressure Hydrocephalus With Stuttering: Report of Two Cases and Review of the Literature. 61
31805405 2019
50
An elderly patient with Alzheimer's disease, normal pressure hydrocephalus and traumatic brain injury: presented with behavioural symptoms similar to behavioural variant frontotemporal dementia? 61
31822154 2019

Variations for Normal Pressure Hydrocephalus

ClinVar genetic disease variations for Normal Pressure Hydrocephalus:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)SNV Pathogenic 221553 rs768643552 9:139313082-139313082 9:136418630-136418630
2 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)SNV Pathogenic 221552 rs753611141 9:139313299-139313299 9:136418847-136418847
3 CFAP43 CFAP43, TRP1502TERundetermined variant Pathogenic 805993

Expression for Normal Pressure Hydrocephalus

Search GEO for disease gene expression data for Normal Pressure Hydrocephalus.

Pathways for Normal Pressure Hydrocephalus

Pathways related to Normal Pressure Hydrocephalus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.76 VIP PSEN1 NPY MAPT HCRT CLU
2
Show member pathways
11.15 PSEN1 BDNF APP
3 10.91 PSEN1 MAPT APP APOE

GO Terms for Normal Pressure Hydrocephalus

Cellular components related to Normal Pressure Hydrocephalus according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.4 TTR PTGDS PSEN1 NPY MAPT HCRT
2 cell GO:0005623 10.08 PSEN1 NPY MAPT HCRT AQP4 APP
3 cell projection GO:0042995 10.04 PSEN1 MAPT CFAP43 C9orf72 AQP4 APP
4 cytoplasmic vesicle GO:0031410 9.99 PSEN1 HCRT CLU C9orf72 BDNF APP
5 neuron projection GO:0043005 9.89 VIP PSEN1 MAPT C9orf72 APP
6 axon GO:0030424 9.88 PSEN1 MAPT C9orf72 BDNF APP
7 perinuclear region of cytoplasm GO:0048471 9.87 PTGDS PSEN1 HCRT CLU BDNF APP
8 dendrite GO:0030425 9.85 PSEN1 MAPT C9orf72 BDNF APOE APOD
9 growth cone GO:0030426 9.73 PSEN1 MAPT C9orf72 APP
10 extracellular space GO:0005615 9.73 TTR SERPINA3 PTGDS PMPCA NPY LRG1
11 synaptic vesicle GO:0008021 9.71 PSEN1 HCRT BDNF APP
12 platelet alpha granule lumen GO:0031093 9.7 SERPINA3 CLU APP
13 rough endoplasmic reticulum GO:0005791 9.56 PTGDS PSEN1 HCRT APP
14 ciliary rootlet GO:0035253 9.55 PSEN1 APP
15 extracellular region GO:0005576 9.5 VIP TTR SERPINA3 PTGDS NPY MAPT
16 neurofibrillary tangle GO:0097418 9.46 MAPT CLU
17 main axon GO:0044304 9.33 MAPT C9orf72 APP

Biological processes related to Normal Pressure Hydrocephalus according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.92 PSEN1 MAPT APP APOE
2 cellular protein metabolic process GO:0044267 9.85 TTR PSEN1 APP APOE
3 memory GO:0007613 9.77 PSEN1 MAPT BDNF
4 learning or memory GO:0007611 9.7 VIP PSEN1 APP
5 synapse organization GO:0050808 9.67 PSEN1 MAPT APP
6 neuron projection development GO:0031175 9.67 NPY MAPT APP APOE
7 positive regulation of amyloid-beta formation GO:1902004 9.64 CLU APP
8 reverse cholesterol transport GO:0043691 9.63 CLU APOE
9 stress granule assembly GO:0034063 9.63 MAPT C9orf72
10 central nervous system neuron development GO:0021954 9.62 NPY MAPT
11 response to reactive oxygen species GO:0000302 9.61 APOE APOD
12 negative regulation of amyloid-beta formation GO:1902430 9.61 CLU APOE
13 negative regulation of long-term synaptic potentiation GO:1900272 9.6 APP APOE
14 amyloid fibril formation GO:1990000 9.58 MAPT APP
15 amyloid precursor protein metabolic process GO:0042982 9.58 PSEN1 APOE
16 neuron projection maintenance GO:1990535 9.57 PSEN1 APP
17 negative regulation of potassium ion transport GO:0043267 9.56 VIP HCRT
18 modulation of age-related behavioral decline GO:0090647 9.54 PSEN1 APP
19 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.51 PSEN1 APP
20 negative regulation of amyloid fibril formation GO:1905907 9.48 CLU APOE
21 protein import GO:0017038 9.46 CLU APOE
22 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.43 PSEN1 APP
23 microglial cell activation GO:0001774 9.43 MAPT CLU APP
24 astrocyte activation involved in immune response GO:0002265 9.4 PSEN1 APP
25 regulation of amyloid-beta clearance GO:1900221 9.32 CLU APOE
26 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.16 PSEN1 APP
27 astrocyte activation GO:0048143 9.13 PSEN1 MAPT APP
28 positive regulation of amyloid fibril formation GO:1905908 8.92 PSEN1 CLU APP APOE

Molecular functions related to Normal Pressure Hydrocephalus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 VIP TTR NPY
2 lipoprotein particle binding GO:0071813 8.96 MAPT APOE
3 neuropeptide hormone activity GO:0005184 8.8 VIP NPY HCRT

Sources for Normal Pressure Hydrocephalus

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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