MCID: HYD061
MIFTS: 47

Hydrocephalus, Normal-Pressure

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Hydrocephalus, Normal-Pressure

MalaCards integrated aliases for Hydrocephalus, Normal-Pressure:

Name: Hydrocephalus, Normal-Pressure 57
Normal Pressure Hydrocephalus 12 54 59 37 6 15
Hydrocephalus, Normal Pressure 44 73
Hydrocephalus - Normal Pressure 54
Hydrocephalus Normal Pressure 55
Chronic Adult Hydrocephalus 59
Low Pressure Hydrocephalus 12
Nph 59

Characteristics:

Orphanet epidemiological data:

59
normal pressure hydrocephalus
Inheritance: Not applicable; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hydrocephalus, normal-pressure:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 236690
Disease Ontology 12 DOID:1572
ICD10 33 G91.2
MeSH 44 D006850
SNOMED-CT 68 30753002 69663004
Orphanet 59 ORPHA314928
UMLS via Orphanet 74 C0020258
ICD10 via Orphanet 34 G91.2
MedGen 42 C0020258
KEGG 37 H01676
UMLS 73 C0020258

Summaries for Hydrocephalus, Normal-Pressure

NINDS : 54 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 : Hydrocephalus, Normal-Pressure, also known as normal pressure hydrocephalus, is related to hydrocephalus and tremor, hereditary essential, and idiopathic normal pressure hydrocephalus. An important gene associated with Hydrocephalus, Normal-Pressure is PMPCA (Peptidase, Mitochondrial Processing Alpha Subunit), and among its related pathways/superpathways are Neuroscience and Alzheimers Disease Pathway. The drugs Citalopram and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related phenotypes are gait disturbance and bowel incontinence

Wikipedia : 76 Normal pressure hydrocephalus (NPH), also termed Hakim\'s syndrome and symptomatic hydrocephalus, is a... more...

Description from OMIM: 236690

Related Diseases for Hydrocephalus, Normal-Pressure

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



Diseases related to Hydrocephalus, Normal-Pressure

Symptoms & Phenotypes for Hydrocephalus, Normal-Pressure

Symptoms via clinical synopsis from OMIM:

57
HEENT:
normal-pressure hydrocephalus

Neuro:
gait disturbance
mild dementia
psychomotor retardation
urinary or fecal incontinence


Clinical features from OMIM:

236690

Human phenotypes related to Hydrocephalus, Normal-Pressure:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 32 HP:0001288
2 bowel incontinence 32 HP:0002607
3 global developmental delay 32 HP:0001263
4 dementia 32 HP:0000726
5 urinary incontinence 32 HP:0000020
6 normal pressure hydrocephalus 32 HP:0002343

Drugs & Therapeutics for Hydrocephalus, Normal-Pressure

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2 Cholinergic Agents Phase 4
3 Cholinergic Antagonists Phase 4
4 Muscarinic Antagonists Phase 4
5 Neurotransmitter Agents Phase 4
6 Neurotransmitter Uptake Inhibitors Phase 4
7 Serotonin Agents Phase 4
8 Serotonin Uptake Inhibitors Phase 4
9
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
10
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
11 Anesthetics Phase 2, Phase 3,Not Applicable
12 Anti-Infective Agents, Local Phase 2, Phase 3
13 Pharmaceutical Solutions Phase 2, Phase 3
14 Anticonvulsants Phase 3
15 Carbonic Anhydrase Inhibitors Phase 3
16 diuretics Phase 3
17 Natriuretic Agents Phase 3
18 Mitogens

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Selective Serotonin Reuptake Inhibitor (SSRI) in Overactive Bladder Patients Completed NCT00902421 Phase 4 Selective serotonin reuptake inhibitors;Antimuscarinics
2 ShuntCheck Versus Radionuclide in Evaluating Shunt Function in Symptomatic NPH Patients Completed NCT01323764 Phase 4
3 ShuntCheck Accuracy in Detecting Shunt Obstruction Normal Pressure Hydrocephalus (NPH) Patients Withdrawn NCT00793416 Phase 4
4 Clinical Value of Noninvasive Intracranial Pressure Measurement Unknown status NCT02130219 Phase 2, Phase 3
5 PET Imaging of Brain Amyloid in Normal Pressure Hydrocephalus 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 Positron Emission Tomography Imaging of Brain Amyloid in Normal Pressure Hydrocephalus Terminated NCT01092546 Phase 3 [18F]Flutemetamol
8 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
9 Study to Evaluate Efficacy of Shunt Operation for Idiopathic Normal Pressure Hydrocephalus Completed NCT00221091 Phase 2
10 Computerised Testing of Cognitive Response to Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT01618500
11 European Study on Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT00874198 Not Applicable
12 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
13 Predictive Value of Flow MRI in Normal Pressure Hydrocephalus Surgery Completed NCT01815775 Early Phase 1
14 A Trial of High and Low Pressure Level Settings on a Programmable Ventriculoperitoneal Shunt Valve for Idiopathic Normal Pressure Hydrocephalus Completed NCT01570257 Not Applicable
15 Prognostic Value of Transforming Growth Factor-Beta 1 in Normal Pressure Hydrocephalus Completed NCT00600795
16 Computerized Neuropsychology in Idiopathic Normal Pressure Hydrocephalus (INPH) Completed NCT01265251
17 Normal Pressure Hydrocephalus (NPH) Registry Completed NCT00233701
18 A Study Comparing Shunt Placement Versus Endoscopic Third Ventriculostomy in the Treatment of Hydrocephalus Completed NCT01115270
19 Vascular Risk Factors in INPH-patients Completed NCT01850914
20 Cerebrospinal Fluid Proteome in Hydrocephalus Completed NCT02016352 Not Applicable
21 Improved Analysis Methods for Infusion Tests Completed NCT01319136
22 Intracranial Pressure Waves Via Lumbar Puncture Completed NCT01374048
23 Value of Radionuclide Cisternography Completed NCT02876614
24 Comparison of Continuous Noninvasive and Invasive Intracranial Pressure Measurement--Celda Infusion Subprotocol Completed NCT01976559 Not Applicable
25 The Brain Structure and Neural Network Changing the Before and After Ventriculo-peritoneal Shunting in the Normal Pressure Hydrocephalus Patients Recruiting NCT03092804
26 Flow MRI in Normal Pressure Hydrocephalus Recruiting NCT01909960 Not Applicable
27 Endoscopic Third Ventriculostomy Versus Ventriculo-peritoneal Shunting in Idiopathic Normal Pressure Hydrocephalus Recruiting NCT03245138 Not Applicable
28 Effects of Physical Training in iNPH Recruiting NCT02659111 Not Applicable
29 A Randomized Cross-over Study for Normal Pressure Hydrocephalus Recruiting NCT01798641 Not Applicable
30 Novel Parameters for the Prediction of Ventriculoperitoneal Shunting Efficacy in Patients With iNPH Recruiting NCT02495610 Not Applicable
31 A Placebo-Controlled Effectiveness in INPH Shunting (PENS) Trial Recruiting NCT03350750 Not Applicable
32 Estimation of Intracranial Pressure Using Non-invasive Fundus Videos Recruiting NCT03382860
33 Magnetic Resonance Elastography in Hydrocephalus Active, not recruiting NCT02230124 Not Applicable
34 Using Cerebrospinal Fluid Dynamics to Optimize Treatment of Idiopathic Normal Pressure Hydrocephalus Enrolling by invitation NCT03076723 Not Applicable
35 CPT-3 in Normal Pressure Hydrocephalus Not yet recruiting NCT03521518
36 Brain Network Activation in Patients With Movement Disorders Not yet recruiting NCT03269201
37 Factors Predicting Response to Shunting in Normal Pressure Hydrocephalus Terminated NCT00613886 Not Applicable
38 Conservative Versus Surgical Management of Idiopathic Normal Pressure Hydrocephalus (INPH) Terminated NCT00727142 Not Applicable
39 ETV Versus Shunt Surgery in Normal Pressure Hydrocephalus Terminated NCT00946127
40 Prognostic Value of Aβ Imaging in NPH Prior to Shunt Placement Terminated NCT01834625
41 Anterior Pituitary Function in Patients With Hydrocephalus Terminated NCT00149721 Not Applicable
42 Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in Life Withdrawn NCT01377805

Search NIH Clinical Center for Hydrocephalus, Normal-Pressure

Cochrane evidence based reviews: hydrocephalus, normal pressure

Genetic Tests for Hydrocephalus, Normal-Pressure

Anatomical Context for Hydrocephalus, Normal-Pressure

MalaCards organs/tissues related to Hydrocephalus, Normal-Pressure:

41
Brain, Testes, Spinal Cord, Pituitary, Bone, Thalamus, Eye

Publications for Hydrocephalus, Normal-Pressure

Articles related to Hydrocephalus, Normal-Pressure:

(show top 50) (show all 717)
# Title Authors Year
1
Comparative analysis of cerebrospinal fluid metabolites in Alzheimer's disease and idiopathic normal pressure hydrocephalus in a Japanese cohort. ( 29387418 )
2018
2
Relationship between gait parameters and MR imaging in idiopathic normal pressure hydrocephalus patients after shunt surgery. ( 29413784 )
2018
3
The subjective experience of patients undergoing shunt surgery for idiopathic normal pressure hydrocephalus. ( 29981467 )
2018
4
Computerized gait analysis with inertial sensor in the management of idiopathic normal pressure hydrocephalus. ( 29962192 )
2018
5
Shunt Intervention for Possible Idiopathic Normal Pressure Hydrocephalus Improves Patient Outcomes: A Nationwide Hospital-Based Survey in Japan. ( 29942280 )
2018
6
Postural control before and after cerebrospinal fluid shunt surgery in idiopathic normal pressure hydrocephalus. ( 29975875 )
2018
7
Lyme Meningoencephalitis Masquerading as Normal Pressure Hydrocephalus. ( 29872598 )
2018
8
Progression of Alzheimer's Disease-Related Pathology and Cell Counts in a Patient with Idiopathic Normal Pressure Hydrocephalus. ( 29376849 )
2018
9
Brain comorbidities in normal pressure hydrocephalus. ( 29222955 )
2018
10
Changes of cerebrospinal fluid protein concentrations and gait patterns in geriatric normal pressure hydrocephalus patients after ventriculoperitoneal shunting surgery. ( 29408782 )
2018
11
Concurrent Alzheimer's pathology in patients with clinical normal pressure hydrocephalus. ( 29444559 )
2018
12
Increase in callosal angle and decrease in ventricular volume after shunt surgery in patients with idiopathic normal pressure hydrocephalus. ( 29393749 )
2018
13
Supplementary tests in idiopathic normal pressure hydrocephalus: a single center experience with a combined lumbar infusion test and tap test. ( 28089835 )
2017
14
Clinical Correlation of Abnormal Findings on Magnetic Resonance Elastography in Idiopathic Normal Pressure Hydrocephalus. ( 28063896 )
2017
15
Neurological outcome and frequency of overdrainage in normal pressure hydrocephalus directly correlates with implanted ventriculo-peritoneal shunt valve type. ( 28460569 )
2017
16
Use of programmable versus nonprogrammable shunts in the management of normal pressure hydrocephalus: A multicenter retrospective study with cost-benefit analysis in Turkey. ( 28953678 )
2017
17
Diagnosis of Normal-Pressure Hydrocephalus: Use of Traditional Measures in the Era of Volumetric MR Imaging. ( 28498794 )
2017
18
Neurite orientation dispersion and density imaging for evaluation of corticospinal tract in idiopathic normal pressure hydrocephalus. ( 27787666 )
2017
19
Why does the health-related quality of life in idiopathic normal pressure hydrocephalus fail to improve despite the favorable clinical outcome? ( 28887286 )
2017
20
PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus. ( 28714010 )
2017
21
Associations of intracranial pressure with brain biopsy, radiological findings, and shunt surgery outcome in patients with suspected idiopathic normal pressure hydrocephalus. ( 27878614 )
2017
22
Decreased Expression of hsa-miR-4274 inA Cerebrospinal Fluid of Normal Pressure Hydrocephalus Mimics with Parkinsonian Syndromes. ( 27911315 )
2017
23
Effect of cerebrospinal fluid shunt surgery on lower urinary tract dysfunction in idiopathic normal pressure hydrocephalus. ( 28892272 )
2017
24
The predictive value of T-tau and AB1-42 levels in idiopathic normal pressure hydrocephalus. ( 28889317 )
2017
25
Spectral Domain-Optical Coherence Tomography As a New Diagnostic Marker for Idiopathic Normal Pressure Hydrocephalus. ( 28507532 )
2017
26
Cryptococcal Meningitis Masquerading as Normal Pressure Hydrocephalus in an Immune-competent Adult. ( 29302151 )
2017
27
Effects of Alzheimer's Disease-Associated Risk Loci on Amyloid-I^ Accumulation in the Brain of Idiopathic Normal Pressure Hydrocephalus Patients. ( 27802227 )
2017
28
Frontotemporal dementia as a comorbidity to idiopathic normal pressure hydrocephalus (iNPH): a short review of literature and an unusual case. ( 28420385 )
2017
29
An unusual case of temporal bone encephalomeningocele occurring together with normal pressure hydrocephalus. ( 28942232 )
2017
30
Epilepsy, headache, and abdominal pain after shunt surgery for idiopathic normal pressure hydrocephalus: the INPH-CRasH study. ( 28885121 )
2017
31
Diffusion tensor imaging profiles reveal specific neural tract distortion in normal pressure hydrocephalus. ( 28817574 )
2017
32
Alzheimer's disease pathology and shunt surgery outcome in normal pressure hydrocephalus. ( 28786990 )
2017
33
Interhemispheric Resting-State Functional Connectivity Predicts Severity of Idiopathic Normal Pressure Hydrocephalus. ( 28919849 )
2017
34
Cerebrospinal fluid AI^42, t-tau, and p-tau levels in the differential diagnosis of idiopathic normal-pressure hydrocephalus: a systematic review and meta-analysis. ( 28486988 )
2017
35
Recognizing normal pressure hydrocephalus in older adults. ( 28795990 )
2017
36
The role of perfusion and diffusion MRI in the assessment of patients affected by probable idiopathic normal pressure hydrocephalus. A cohort-prospective preliminary study. ( 28899431 )
2017
37
Deconstructing normal pressure hydrocephalus: Ventriculomegaly as early sign of neurodegeneration. ( 28892572 )
2017
38
Parkinsonian symptoms in normal pressure hydrocephalus: a population-based study. ( 28879446 )
2017
39
Recognizing normal pressure hydrocephalus in older adults. ( 28834930 )
2017
40
Olfactory ability in normal pressure hydrocephalus as compared to Alzheimer's disease and healthy controls. ( 28017216 )
2017
41
Asymmetric and Upper-Body Parkinsonism in Patients with Idiopathic Normal-Pressure Hydrocephalus. ( 28516741 )
2017
42
Quantitative analysis of cerebrospinal fluid dynamics at phase contrast cine-MRI: predictivity of neurosurgical "Shunt" responsiveness in patients with idiopathic normal pressure hydrocephalus. ( 28869371 )
2017
43
Arterial Spin-Labeling Perfusion MR Imaging Demonstrates Regional CBF Decrease in Idiopathic Normal Pressure Hydrocephalus. ( 28860216 )
2017
44
The clinical effect of postoperative hyperbaric oxygen therapy on idiopathic normal pressure hydrocephalus:A retrospective and comparative analysis of 61 patients with ventriculoperitoneal shunt. ( 28502690 )
2017
45
Can MRI water apparent diffusion coefficient (ADC) value discriminate between idiopathic normal pressure hydrocephalus, Alzheimer's disease and subcortical vascular dementia? ( 28923529 )
2017
46
(11)C-PIB retention patterns in white and grey cerebral matter in idiopathic normal pressure hydrocephalus patients. A visual analysis. ( 28869176 )
2017
47
Cerebrospinal Fluid Amyloid-I^ 42, Total Tau and Phosphorylated Tau are Low in Patients with Normal Pressure Hydrocephalus: Analogies and Differences with Alzheimer's Disease. ( 28826180 )
2017
48
A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study. ( 27861535 )
2016
49
A comparison between the pathophysiology of multiple sclerosis and normal pressure hydrocephalus: is pulse wave encephalopathy a component of MS? ( 27658732 )
2016
50
Subdural haematoma complicating shunting for normal pressure hydrocephalus in the setting of concomitant antiplatelet medication - a report of 11 cases. ( 27100934 )
2016

Variations for Hydrocephalus, Normal-Pressure

ClinVar genetic disease variations for Hydrocephalus, Normal-Pressure:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh37 Chromosome 9, 139313082: 139313082
2 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh38 Chromosome 9, 136418630: 136418630
3 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847
4 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh37 Chromosome 9, 139313299: 139313299

Expression for Hydrocephalus, Normal-Pressure

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

Pathways for Hydrocephalus, Normal-Pressure

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

# Super pathways Score Top Affiliating Genes
1 11.46 APOE HCRT MAPT NPY
2 10.61 APOE MAPT

GO Terms for Hydrocephalus, Normal-Pressure

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

# Name GO ID Score Top Affiliating Genes
1 feeding behavior GO:0007631 8.96 HCRT NPY
2 central nervous system neuron development GO:0021954 8.62 MAPT NPY

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 8.96 HCRT NPY
2 lipoprotein particle binding GO:0071813 8.62 APOE MAPT

Sources for Hydrocephalus, Normal-Pressure

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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