MCID: NRM002
MIFTS: 49

Normal Pressure Hydrocephalus

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

Aliases & Classifications for Normal Pressure Hydrocephalus

MalaCards integrated aliases for Normal Pressure Hydrocephalus:

Name: Normal Pressure Hydrocephalus 12 53 36 29 6 15 17
Hydrocephalus - Normal Pressure 53
Hydrocephalus, Normal Pressure 44
Hydrocephalus Normal Pressure 54
Low Pressure Hydrocephalus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1572
KEGG 36 H01676
MeSH 44 D006850
SNOMED-CT 67 30753002
ICD10 32 G91.2
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 hydrocephalus, normal-pressure, 1 and hydrocephalus. 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 Alzheimers Disease. The drugs Acetazolamide and Flutemetamol have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and pituitary, and related phenotypes are behavior/neurological and cardiovascular system

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 malresorptive hydrocephalus, is form of communicating... 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 320)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus, normal-pressure, 1 32.4 PMPCA CFAP43
2 hydrocephalus 32.0 TTR SERPINA3 PTGDS PSEN1 MAPT LRG1
3 vascular dementia 31.2 SERPINA3 PSEN1 MAPT APP APOE
4 cerebrovascular disease 31.1 TTR SERPINA3 MAPT APP APOE
5 binswanger's disease 31.1 VIP MAPT APP APOE
6 apraxia 31.0 PSEN1 MAPT C9orf72 APOE
7 mild cognitive impairment 31.0 MAPT CLU APP APOE
8 traumatic brain injury 30.9 AQP4 APOE
9 brain injury 30.7 MAPT AQP4 APOE
10 amnestic disorder 30.7 PSEN1 MAPT APP APOE
11 dementia 30.7 TTR SERPINA3 PSEN1 MAPT C9orf72 APP
12 supranuclear palsy, progressive, 1 30.6 SERPINA3 PSEN1 MAPT HCRT C9orf72 APP
13 movement disease 30.5 SERPINA3 MAPT C9orf72 APP APOE
14 frontotemporal dementia 30.5 PSEN1 NPY MAPT HCRT C9orf72 APP
15 alzheimer disease 10 30.5 MAPT APOE
16 dysgraphia 30.4 MAPT C9orf72
17 huntington disease 30.4 NPY MAPT HCRT C9orf72 APP
18 intraocular pressure quantitative trait locus 30.3 TTR SERPINA3 AQP4
19 agraphia 30.3 MAPT C9orf72 APOE
20 parkinson disease, late-onset 30.3 TTR SERPINA3 PSEN1 MAPT HCRT APP
21 prosopagnosia 30.3 MAPT C9orf72
22 anosognosia 30.2 PSEN1 C9orf72 APOE
23 sleep disorder 30.2 NPY MAPT HCRT APOE
24 creutzfeldt-jakob disease 30.2 SERPINA3 MAPT CLU AQP4 APP APOE
25 stroke, ischemic 30.2 SERPINA3 PSEN1 MAPT AQP4 APOE
26 communicating hydrocephalus 30.2 SFMBT1 SERPINA3 PTPRQ PTGDS PSEN1 MIR4274
27 cerebral amyloid angiopathy, cst3-related 30.0 TTR SERPINA3 PSEN1 MAPT CLU APP
28 down syndrome 30.0 SERPINA3 PSEN1 MAPT APP APOE
29 alzheimer disease 30.0 TTR SERPINA3 PTGDS PSEN1 MAPT CLU
30 aphasia 30.0 PSEN1 MAPT C9orf72 APP APOE
31 amyloidosis 29.8 TTR SERPINA3 PSEN1 MAPT CLU APP
32 schizophrenia 29.8 SERPINA3 PTGDS NPY MAPT HCRT AQP4
33 dementia, lewy body 29.8 SERPINA3 PSEN1 MAPT HCRT CLU C9orf72
34 peripheral nervous system disease 29.6 TTR SERPINA3 PSEN1 NPY MAPT AQP4
35 pick disease of brain 29.6 SERPINA3 PSEN1 MAPT CLU C9orf72 APP
36 amyotrophic lateral sclerosis 1 29.4 SERPINA3 PSEN1 MAPT C9orf72 APP APOE
37 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 11.5
38 congenital hydrocephalus 11.1
39 cerebral atrophy 10.7
40 parkinsonism 10.7
41 ataxia and polyneuropathy, adult-onset 10.6
42 intracranial hypertension 10.5
43 vascular disease 10.5
44 gait apraxia 10.5
45 obstructive hydrocephalus 10.5
46 residual stage of open angle glaucoma 10.5 APP APOE
47 senile plaque formation 10.4 APP APOE
48 leprosy 2 10.4 VIP NPY
49 encephalopathy 10.4
50 subjective cognitive decline 10.4 MAPT APOE

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



Diseases related to Normal Pressure Hydrocephalus

Symptoms & Phenotypes for Normal Pressure Hydrocephalus

MGI Mouse Phenotypes related to Normal Pressure Hydrocephalus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 APOD APOE APP AQP4 C9orf72 CLU
2 cardiovascular system MP:0005385 10.1 APOD APOE APP AQP4 C9orf72 CLU
3 homeostasis/metabolism MP:0005376 10.1 APOD APOE APP AQP4 C9orf72 CLU
4 nervous system MP:0003631 9.97 APOD APOE APP AQP4 C9orf72 CFAP43
5 no phenotypic analysis MP:0003012 9.5 APOE APP AQP4 C9orf72 MAPT PTGDS
6 respiratory system MP:0005388 9.17 APOE AQP4 C9orf72 CFAP43 HCRT PSEN1

Drugs & Therapeutics for Normal Pressure Hydrocephalus

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
2 Flutemetamol Investigational Phase 3 637003-10-2
3 Radiopharmaceuticals Phase 3
4 Anticonvulsants Phase 3
5 diuretics Phase 3
6 Carbonic Anhydrase Inhibitors Phase 3
7 Liver Extracts Phase 2
8
Acetaminophen Approved Phase 1 103-90-2 1983
9
Coal tar Approved Phase 1 8007-45-2
10 Analgesics, Non-Narcotic Phase 1
11 Analgesics Phase 1
12 Antipyretics Phase 1
13 Mitogens
14 Anesthetics

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Accuracy of ShuntCheck and MRI in Detection of Shunt Obstruction in Patients Receiving Shunt Patency Test Withdrawn NCT00793416 Phase 4
2 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
3 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
4 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
5 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
6 Acetazolamide for Treating NPH in Shunt-candidates Patients: an Open Label Feasibility Trial Unknown status NCT03779594 Phase 2 Acetazolamide
7 Clinical Study of Idiopathic Normal Pressure Hydrocephalus for Neurological Improvement Completed NCT00221091 Phase 2
8 Blood-Brain Barrier Penetration of Therapeutic Agents in Human - an Exploratory Repeated Dose Pharmacokinetic Study in Patients With Idiopathic Normal Pressure Hydrocephalus Treated With Cerebroventricular Shunting Recruiting NCT04571996 Phase 1 ODM-104;Paracetamol
9 European Multicenter Study on the Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT00874198
10 Benefit of Flow Magnetic Resonance Imaging in the Management of Normal Pressure Hydrocephalus Unknown status NCT01909960
11 The Brain Structure and Neural Network Changing the Before and After Ventriculo-peritoneal Shunting in the Normal Pressure Hydrocephalus Patients Unknown status NCT03092804
12 Endoscopic Third Ventriculostomy Versus Ventriculo-peritoneal Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT03245138
13 Computerised Testing of Cognitive Response to Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT01618500
14 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
15 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
16 Are Intracranial Pressure Waves Measurable Through Lumbar Puncture? Completed NCT01374048
17 Novel Infusion Method for Describing CSF Dynamics Completed NCT01319136
18 Prognostic Value of Transforming Growth Factor-Beta 1 in Normal Pressure Hydrocephalus Completed NCT00600795
19 Evaluation of a Computerised Neuropsychological Test Battery for Idiopathic Normal Pressure Hydrocephalus (INPH) Completed NCT01265251
20 Predictive Value of Flow MRI in Normal Pressure Hydrocephalus Surgery Completed NCT01815775 Early Phase 1
21 Cerebrospinal Fluid Proteome in Hydrocephalus Completed NCT02016352
22 Normal Pressure Hydrocephalus (NPH) Registry Completed NCT00233701
23 Efficacy of Shunt Surgery in Normal Pressure Hydrocephalus: a Randomized Cross-over Study Completed NCT01798641
24 Effects of Physical Training in Shunt-operated Patients With Idiopathic Normal Pressure Hydrocephalus Completed NCT02659111
25 Vascular Risk Factors, Subclinical and Manifest Vascular Disease in Patients With Idiopathic Normal Pressure Hydrocephalus Completed NCT01850914
26 A Study Comparing Shunt Placement Versus Endoscopic Third Ventriculostomy in the Treatment of Hydrocephalus Completed NCT01115270
27 Effect of Depletive Lumbar Puncture and Cerebrospinal Fluid Shunt Surgery on Lower Urinary Tract Dysfunction in Normal Pressure Hydrocephalus Recruiting NCT03877107
28 Neuropsychometric Testing With Conner's Continual Performance Test -3 in Normal Pressure Hydrocephalus Recruiting NCT03521518
29 A Prospective Single-centre Trial Investigating Novel Parameters for the Prediction of Ventriculoperitoneal Shunting Efficacy in Patients With Idiopathic Normal Pressure Hydrocephalus Recruiting NCT02495610
30 Walking Pattern Characteristics in Normal Pressure Hydrocephalus. A Phase I/II Open-label Single Center Trial to Characterize Disease-specific Walking Patterns Using Wearable Gyroscopes Recruiting NCT04702035
31 Normal-pressure Hydrocephalus. Relationship Between Sleep Apnea and Intracranial and Intraabdominal Pressures. Outcome Prognostic Factors in CSF Shunting. Features Guiding to Implant a Ventricle-peritoneal Versus a Ventriculo-atrial Shunt Recruiting NCT04471740
32 Adjustable Gravitational vs. Adjustable Differential Pressure Valves in Patients With Idiopathic Normal Pressure Hydrocephalus. Prospective Randomized Study. Recruiting NCT04434053
33 Diagnostic Accuracy of ShuntCheck Compared With Radionuclide Shunt Patency Test to Detect Shunt Flow Obstruction in Patients With Normal Pressure Hydrocephalus - A Cross-sectional Analytic Study Recruiting NCT04309487
34 Post-Market Clinical Follow-up Registry of Patients With CODMAN CERTAS Plus Programmable Valves Recruiting NCT04207229
35 A Placebo-Controlled Effectiveness in INPH Shunting (PENS) Trial: Proof of Concept Active, not recruiting NCT03350750
36 Neurology Inpatient Clinical Education Trial Active, not recruiting NCT03826056
37 Assessment of ShuntCheck Performance Characteristics in Asymptomatic Patients With Normal Pressure Hydrocephalus Enrolling by invitation NCT04011566
38 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
39 MRI-Volumetry in the Evaluation of Shunt Treatment for Hydrocephalus, a Randomised, Double-blind Study. Enrolling by invitation NCT04599153
40 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
41 Prognostic Value of Aβ Imaging in NPH Prior to Shunt Placement Terminated NCT01834625
42 Conservative Versus Surgical Management of Idiopathic Normal Pressure Hydrocephalus Terminated NCT00727142
43 Factors Predicting Response to Shunting in Normal Pressure Hydrocephalus Terminated NCT00613886
44 Anterior Pituitary Function in Patients With Hydrocephalus Terminated NCT00149721
45 Endoscopic Third Ventriculostomy (ETV) Versus Ventriculoperitoneal Shunting (VPS) for the Surgical Management of Normal Pressure Hydrocephalus Terminated NCT00946127

Search NIH Clinical Center for Normal Pressure Hydrocephalus

Cochrane evidence based reviews: hydrocephalus, normal pressure

Genetic Tests for Normal Pressure Hydrocephalus

Genetic tests related to Normal Pressure Hydrocephalus:

# Genetic test Affiliating Genes
1 Normal Pressure Hydrocephalus 29 CFAP43

Anatomical Context for Normal Pressure Hydrocephalus

MalaCards organs/tissues related to Normal Pressure Hydrocephalus:

40
Brain, Spinal Cord, Pituitary, Cortex, Liver, Endothelial, Thalamus

Publications for Normal Pressure Hydrocephalus

Articles related to Normal Pressure Hydrocephalus:

(show top 50) (show all 2735)
# Title Authors PMID Year
1
Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. 6 61
31004071 2019
2
Quantitative analysis of transthyretin, tau and amyloid-beta in patients with dementia. 61 54
18525124 2008
3
Alzheimer's disease-related changes in diseases characterized by elevation of intracranial or intraocular pressure. 54 61
18061341 2008
4
Cerebrospinal fluid tau, phospho-tau181 and beta-amyloid1-42 in idiopathic normal pressure hydrocephalus: a discrimination from Alzheimer's disease. 54 61
17250725 2007
5
Cerebrospinal fluid orexin in aneurysmal subarachnoid haemorrhage - a pilot study. 54 61
16150596 2005
6
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
7
Lipocalin-type prostaglandin D synthase (beta-trace) in cerebrospinal fluid: a useful marker for the diagnosis of normal pressure hydrocephalus. 54 61
14630351 2003
8
[Biological markers for Alzheimer disease]. 61 54
12806899 2003
9
Shunt related changes in somatostatin, neuropeptide Y, and corticotropin releasing factor concentrations in patients with normal pressure hydrocephalus. 61 54
11181849 2001
10
Neuropeptide Y cerebrospinal fluid levels in patients with normal pressure hydrocephalus syndrome. 61 54
8080906 1994
11
Reply to comment on 'An elderly patient with Alzheimer's disease, normal pressure hydrocephalus and traumatic brain injury: presented with behavioral symptoms similar to behavioral variant frontotemporal dementia? 61
32122209 2021
12
Predicting the outcome of normal pressure hydrocephalus therapy-where do we stand? 61
33474651 2021
13
Anterior callosal angle correlates with gait impairment and fall risk in iNPH patients. 61
33438062 2021
14
Acute Presentation of Normal Pressure Hydrocephalus After Transcatheter Aortic Valve Implantation: A Novel Interaction Between the First and Third Circulations. 61
33181380 2021
15
Callosal angle in idiopathic normal pressure hydrocephalus: small angular mal-rotations of the coronal plane affect measurement reliability. 61
33544172 2021
16
Assessing the predictive value of common gait measure for predicting falls in patients presenting with suspected normal pressure hydrocephalus. 61
33557773 2021
17
Idiopathic normal-pressure hydrocephalus: the cost-effectiveness of delivering timely and adequate treatment in Germany. 61
33044753 2021
18
Guidelines for Management of Idiopathic Normal Pressure Hydrocephalus (Third Edition): Endorsed by the Japanese Society of Normal Pressure Hydrocephalus. 61
33455998 2021
19
Deficient visuomotor hand coordination in normal pressure hydrocephalus. 61
33594453 2021
20
A comprehensive clinico-radiological, neuropsychological and biomechanical analysis approach to patients with idiopathic normal pressure hydrocephalus. 61
33348122 2021
21
Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus. 61
33035386 2021
22
Plasma and cerebrospinal fluid ABeta42 for the differential diagnosis of Alzheimer's disease dementia in participants diagnosed with any dementia subtype in a specialist care setting. 61
33566374 2021
23
Is DAT imaging abnormality in normal pressure hydrocephalus always suggestive of degeneration? 61
33000331 2021
24
Intraventricular infusion test accuracy in predicting short- and long-term outcome of iNPH patients: a 10-year update of a three-decade experience at a single institution. 61
33590367 2021
25
Lumboperitoneal Shunt Surgery Using Valve Implantation on the Paravertebral Spinal Muscle. 61
33248308 2021
26
Structural volumetry in NPH diagnostics and treatment-future or dead end? 61
31980974 2021
27
iNPH-the mystery resolving. 61
33555136 2021
28
Striatal Dopamine Deficit and Motor Impairment in Idiopathic Normal Pressure Hydrocephalus. 61
33151012 2021
29
Comparative Analysis of the Patients with Spontaneous Thalamic Hemorrhage with Concurrent Intraventricular Hemorrhage and Those without Intraventricular Hemorrhage. 61
33398941 2021
30
Galabiosylceramide is present in human cerebrospinal fluid. 61
33360824 2021
31
Co-occurrence of idiopathic normal-pressure hydrocephalus-like magnetic resonance imaging features in progressive supranuclear palsy. 61
33459447 2021
32
Altered glymphatic system in idiopathic normal pressure hydrocephalus. 61
33248394 2021
33
Reduced Striatal DAT Uptake Normalizes After Shunt in Normal-Pressure Hydrocephalus. 61
33044015 2021
34
Can the radiological scale "iNPH Radscale" predict tap test response in idiopathic normal pressure hydrocephalus? 61
33278661 2021
35
Postural performance and plantar cutaneous vibration perception in patients with idiopathic normal pressure hydrocephalus. 61
33458441 2021
36
Lost Marbles Cannot Be Found: Delayed Diagnosis of Normal Pressure Hydrocephalus. 61
32289309 2021
37
Two cases of normal pressure hydrocephalus caused by ependymoma of the cauda equina. 61
33500823 2021
38
Deletions in CWH43 cause idiopathic normal pressure hydrocephalus. 61
33459505 2021
39
Systematic volumetric analysis predicts response to CSF drainage and outcome to shunt surgery in idiopathic normal pressure hydrocephalus. 61
33389035 2021
40
Optical Coherence Tomography Revealing Ganglion Cell Loss in idiopathic Normal Pressure Hydrocephalus. 61
33444824 2021
41
SVM-Based Normal Pressure Hydrocephalus Detection. 61
33496810 2021
42
Considerations in the Use of Gravitational Valves in the Management of Hydrocephalus. Some Lessons Learned with the Dual-Switch Valve. 61
33445418 2021
43
The Pathogenesis Based on the Glymphatic System, Diagnosis, and Treatment of Idiopathic Normal Pressure Hydrocephalus. 61
33488070 2021
44
Accumulation of Macromolecules in Idiopathic Normal Pressure Hydrocephalus. 61
33504733 2021
45
Prevalence and Trends in Management of Idiopathic Normal Pressure Hydrocephalus in the United States: Insights from the National Inpatient Sample. 61
32916365 2021
46
Normal pressure hydrocephalus and CSF tap test response: the gait phenotype matters. 61
33106967 2021
47
Diagnostic performance and interobserver agreement of the callosal angle and Evans' index in idiopathic normal pressure hydrocephalus: a systematic review and meta-analysis. 61
33409775 2021
48
The importance of non-invasive imaging in understanding the glymphatic system in normal pressure hydrocephalus. 61
33487543 2021
49
Cerebrospinal fluid brevican and neurocan fragment patterns in human traumatic brain injury. 61
33275942 2021
50
P-Tau as prognostic marker in long term follow up for patients with shunted iNPH. 61
33059546 2021

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.1129G>A (p.Ala377Thr) SNV Pathogenic 221552 rs753611141 9:139313299-139313299 9:136418847-136418847
2 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) SNV Pathogenic 221553 rs768643552 9:139313082-139313082 9:136418630-136418630
3 CFAP43 NM_025145.7(CFAP43):c.4506G>A (p.Trp1502Ter) SNV Pathogenic 805993 10:105893468-105893468 10:104133710-104133710

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 11.63 PSEN1 MAPT APP APOE
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 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.95 PSEN1 NPY HCRT CLU C9orf72 APP
2 extracellular space GO:0005615 9.9 TTR SERPINA3 PTGDS PMPCA NPY LRG1
3 dendrite GO:0030425 9.89 PSEN1 MAPT C9orf72 APOE APOD
4 perinuclear region of cytoplasm GO:0048471 9.88 PTGDS PSEN1 HCRT CLU APP APOD
5 neuron projection GO:0043005 9.83 VIP PSEN1 MAPT C9orf72 APP
6 platelet alpha granule lumen GO:0031093 9.63 SERPINA3 CLU APP
7 growth cone GO:0030426 9.62 PSEN1 MAPT C9orf72 APP
8 rough endoplasmic reticulum GO:0005791 9.56 PTGDS PSEN1 HCRT APP
9 ciliary rootlet GO:0035253 9.51 PSEN1 APP
10 extracellular region GO:0005576 9.5 VIP TTR SERPINA3 PTGDS NPY MAPT
11 neurofibrillary tangle GO:0097418 9.37 MAPT CLU
12 main axon GO:0044304 9.13 MAPT C9orf72 APP

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.91 PSEN1 MAPT APP APOE
2 cellular protein metabolic process GO:0044267 9.85 TTR PSEN1 APP APOE
3 positive regulation of tumor necrosis factor production GO:0032760 9.77 PSEN1 CLU APP
4 neuron projection development GO:0031175 9.71 NPY MAPT APP APOE
5 synapse organization GO:0050808 9.67 PSEN1 MAPT APP
6 central nervous system neuron development GO:0021954 9.63 NPY MAPT
7 response to reactive oxygen species GO:0000302 9.62 APOE APOD
8 reverse cholesterol transport GO:0043691 9.62 CLU APOE
9 negative regulation of long-term synaptic potentiation GO:1900272 9.61 APP APOE
10 amyloid fibril formation GO:1990000 9.59 MAPT APP
11 negative regulation of amyloid fibril formation GO:1905907 9.58 CLU APOE
12 amyloid precursor protein metabolic process GO:0042982 9.58 PSEN1 APOE
13 neuron projection maintenance GO:1990535 9.57 PSEN1 APP
14 cerebrospinal fluid circulation GO:0090660 9.56 CFAP43 AQP4
15 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.54 PSEN1 APP
16 modulation of age-related behavioral decline GO:0090647 9.52 PSEN1 APP
17 negative regulation of potassium ion transport GO:0043267 9.51 VIP HCRT
18 microglial cell activation GO:0001774 9.5 MAPT CLU APP
19 protein import GO:0017038 9.48 CLU APOE
20 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.46 PSEN1 APP
21 astrocyte activation involved in immune response GO:0002265 9.43 PSEN1 APP
22 regulation of amyloid-beta clearance GO:1900221 9.37 CLU APOE
23 astrocyte activation GO:0048143 9.33 PSEN1 MAPT APP
24 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.26 PSEN1 APP
25 learning or memory GO:0007611 9.26 VIP PSEN1 MAPT APP
26 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 9.43 VIP TTR NPY
2 growth factor receptor binding GO:0070851 9.16 PSEN1 APP
3 lipoprotein particle binding GO:0071813 8.96 MAPT APOE
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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