Hydrocephalus malady

Categories: Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Hydrocephalus

Aliases & Descriptions for Hydrocephalus:

Name: Hydrocephalus 38 12 50 51 29 52 41 42 14 69
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 69
Hydrocephalus, Nonsyndromic, Autosomal Recessive 12
Hydrocephalus Adverse Event 69
Hydrocephalus, X-Linked 12
Ventriculomegaly 50
Hydrocephaly 50


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Disease Ontology 12 DOID:10908
ICD10 33 G91 G91.9
MeSH 42 D006849
NCIt 47 C3111
UMLS 69 C0020255

Summaries for Hydrocephalus

NINDS : 51 Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal fluid (CSF) -- the clear fluid that surrounds the brain and spinal cord. This excessive accumulation results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain. Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by genetic abnormalities or developmental disorders such as spina bifida and encephalocele.  Acquired hydrocephalus develops at the time of birth or at some point afterward and can affect individuals of all ages.  For example, hydrocephalus ex-vacuo occurs when there is damage to the brain caused by stroke or traumatic injury.  Normal pressure hydrocephalus occurs most often among the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery, although many people develop normal pressure hydrocephalus without an obvious cause. Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to CSF. In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or an unusually large head size. In older children and adults, symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk, which is part of the optic nerve), downward deviation of the eyes (called "sunsetting"), problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of development (in children), lethargy, drowsiness, irritability, or other changes in personality or cognition, including memory loss. Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computer tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques.

MalaCards based summary : Hydrocephalus, also known as hydrocephalus, nonsyndromic, autosomal recessive 1, is related to superior vena cava syndrome and normal pressure hydrocephalus, and has symptoms including back pain, headache and pain. An important gene associated with Hydrocephalus is L1CAM (L1 Cell Adhesion Molecule), and among its related pathways/superpathways are Prolactin Signaling Pathway and Development IGF-1 receptor signaling. The drugs Citalopram and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include Brain and Brain, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 50 hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. although it was once known as "water on the brain," the "water" is actually cerebrospinal fluid (csf), which is a clear fluid that surrounds, cushions, and provides nutrients to the brain and spinal cord. excess csf builds up when it cannot drain from the brain due to a blockage in a passage through which the fluid normally flows. this excess fluid causes an abnormal widening of spaces in the brain called ventricles; this can create harmful pressure on brain tissue. symptoms of hydrocephalus vary and may include headache, vomiting and nausea, blurry vision, balance problems, and seizures. hydrocephalus can be present at birth (congenital) or develop after birth (acquired). the causes are not fully understood; it may result from inherited genetic abnormalities or developmental disorders; complications of premature birth; diseases such as meningitis; tumors; traumatic head injury; or other causes. it is most often treated by surgically inserting a shunt system to transport the excess csf and allow for re-absorption. last updated: 8/2/2016

MedlinePlus : 41 hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. normally, this fluid cushions your brain. when you have too much, though, it puts harmful pressure on your brain. hydrocephalus can be congenital, or present at birth. causes include genetic problems and problems with how the fetus develops. an unusually large head is the main sign of congenital hydrocephalus. hydrocephalus can also happen after birth. this is called acquired hydrocephalus. it can occur at any age. causes can include head injuries, strokes, infections, tumors, and bleeding in the brain. symptoms include headache vomiting and nausea blurry vision balance problems bladder control problems thinking and memory problems hydrocephalus can permanently damage the brain, causing problems with physical and mental development. if untreated, it is usually fatal. with treatment, many people lead normal lives with few limitations. treatment usually involves surgery to insert a shunt. a shunt is a flexible but sturdy plastic tube. the shunt moves the cerebrospinal fluid to another area of the body where it can be absorbed. medicine and rehabilitation therapy can also help. nih: national institute of neurological disorders and stroke

Disease Ontology : 12 A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.

Wikipedia : 71 Hydrocephalus is a condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF)... more...

Related Diseases for Hydrocephalus

Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus Due to Aqueductal Stenosis
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrocephalus Autosomal Recessive
Nonsyndromic Hydrocephalus, Ccdc88c-Related Nonsyndromic Hydrocephalus, Mpdz-Related
Congenital Hydrocephalus

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

(show top 50) (show all 532)
id Related Disease Score Top Affiliating Genes
1 superior vena cava syndrome 29.0 GFAP NES SYP
2 normal pressure hydrocephalus 12.3
3 hydrocephalus due to aqueductal stenosis 12.3
4 ventriculomegaly with cystic kidney disease 12.2
5 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.2
6 proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 12.2
7 communicating hydrocephalus 12.0
8 hydrocephalus, endocardial fibroelastosis, and cataracts 12.0
9 obstructive hydrocephalus 12.0
10 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.0
11 hydrocephalus, nonsyndromic, autosomal recessive 12.0
12 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.0
13 hydrocephalus, nonsyndromic, autosomal recessive 2 12.0
14 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.0
15 hydrocephalus due to congenital stenosis of aqueduct of sylvius 11.9
16 congenital hydrocephalus 11.9
17 hydrocephalus-cleft palate-joint contractures syndrome 11.9
18 congenital communicating hydrocephalus 11.9
19 masa syndrome 11.8
20 congenital non-communicating hydrocephalus 11.8
21 mpph syndrome 11.8
22 dandy-walker syndrome 11.7
23 isolated dandy-walker malformation without hydrocephalus 11.7
24 isolated dandy-walker malformation with hydrocephalus 11.7
25 bor-duane hydrocephalus contiguous gene syndrome 11.7
26 vacterl with hydrocephalus 11.7
27 thoracic dysplasia-hydrocephalus syndrome 11.7
28 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.7
29 hydrocephalus obesity hypogonadism 11.7
30 hydrocephalus, autosomal dominant 11.7
31 nonsyndromic hydrocephalus, mpdz-related 11.7
32 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 11.6
33 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic 11.6
34 nonsyndromic hydrocephalus, ccdc88c-related 11.6
35 walker-warburg syndrome 11.6
36 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.6
37 vacterl with hydrocephalus, fancb-related 11.6
38 hydrocephalus with cerebellar agenesis 11.6
39 hydrocephalus autosomal recessive 11.6
40 tibial aplasia ectrodactyly hydrocephalus 11.6
41 hydrocephalus craniosynostosis bifid nose 11.6
42 hydrocephalus growth retardation skeletal anomalies 11.6
43 x-linked hydrocephalus with stenosis of the aqueduct of sylvius 11.6
44 hydrocephalus skeletal anomalies 11.6
45 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.6
46 amelia cleft lip palate hydrocephalus iris coloboma 11.6
47 hydrocephalus with associated malformations 11.6
48 vacterl association, x-linked 11.5
49 chudley-mccullough syndrome 11.5
50 vater association with macrocephaly and ventriculomegaly 11.4

Graphical network of the top 20 diseases related to Hydrocephalus:

Diseases related to Hydrocephalus

Symptoms & Phenotypes for Hydrocephalus

UMLS symptoms related to Hydrocephalus:

back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Hydrocephalus:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 AKT3 CCND2 FLNA GFAP HYDIN L1CAM
2 growth/size/body region MP:0005378 10.28 PIK3R2 SPAG6 STK36 ZIC3 AKT3 FANCB
3 cellular MP:0005384 10.26 FANCB FLNA FOXC1 GFAP HYDIN L1CAM
4 cardiovascular system MP:0005385 10.19 PIK3R2 ZIC3 AKT3 CCND2 FLNA FOXC1
5 homeostasis/metabolism MP:0005376 10.18 AKT3 CCND2 FANCB FLNA FOXC1 GFAP
6 mortality/aging MP:0010768 10.17 AKT3 CCND2 FLNA FOXC1 GFAP HYDIN
7 nervous system MP:0003631 10.13 AKT3 CCND2 FLNA FOXC1 GFAP HYDIN
8 immune system MP:0005387 10.07 PTGDS STK36 ZIC3 AKT3 CCND2 FLNA
9 craniofacial MP:0005382 10 FLNA FOXC1 HYDIN L1CAM MAPT STK36
10 normal MP:0002873 9.81 AKT3 FLNA FOXC1 GFAP MAPT MBP
11 reproductive system MP:0005389 9.73 MBP NTF3 SPAG6 STK36 ZIC3 AKT3
12 vision/eye MP:0005391 9.28 CCND2 FLNA FOXC1 GFAP L1CAM MAPT

Drugs & Therapeutics for Hydrocephalus

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

(show top 50) (show all 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
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,Phase 3
6 Neurotransmitter Uptake Inhibitors Phase 4
Serotonin Phase 4 50-67-9 5202
8 Serotonin Agents Phase 4
9 Serotonin Uptake Inhibitors Phase 4
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
Rifampin Approved Phase 3 13292-46-1 5458213 5381226
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
Tranexamic Acid Approved Phase 2, Phase 3 1197-18-8 5526
Dexmedetomidine Approved, Vet_approved Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
Isoflurane Approved, Vet_approved Phase 3 26675-46-7 3763
Remifentanil Approved Phase 3 132875-61-7 60815
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
Caffeine Approved, Nutraceutical Phase 3 58-08-2 2519
19 Anesthetics Phase 2, Phase 3
20 Anti-Infective Agents, Local Phase 2, Phase 3
21 Pharmaceutical Solutions Phase 2, Phase 3
22 Anti-Bacterial Agents Phase 3
23 Antibiotics, Antitubercular Phase 3
24 Anti-Infective Agents Phase 3
25 Antitubercular Agents Phase 3
26 Clindamycin palmitate Phase 3
27 Clindamycin phosphate Phase 3
28 Adjuvants, Anesthesia Phase 3
29 Anesthetics, General Phase 3
30 Anesthetics, Intravenous Phase 3
31 Anti-Anxiety Agents Phase 3
32 Central Nervous System Depressants Phase 3
33 GABA Agents Phase 3
34 GABA Modulators Phase 3
35 Hypnotics and Sedatives Phase 3
36 Psychotropic Drugs Phase 3
37 Tranquilizing Agents Phase 3
38 Tin Fluorides Phase 3
39 Caffeine citrate Phase 3
40 Central Nervous System Stimulants Phase 3
41 Phosphodiesterase Inhibitors Phase 3
42 Purinergic P1 Receptor Antagonists Phase 3
43 Antifibrinolytic Agents Phase 2, Phase 3
44 Coagulants Phase 2, Phase 3
45 Hemostatics Phase 2, Phase 3
46 Antibodies Phase 3
47 gamma-Globulins Phase 3
48 Immunoglobulin G Phase 3
49 Immunoglobulins Phase 3
50 Immunoglobulins, Intravenous Phase 3

Interventional clinical trials:

(show top 50) (show all 142)
id Name Status NCT ID Phase
1 NIMIP: Non Invasive Measurement of the Intracranial Pressure Unknown status NCT01685450 Phase 4
2 ShuntCheck-Micro-Pumper Pediatric Clinical Outcomes Study Unknown status NCT01881711 Phase 4
3 Normal Pressure Hydrocephalus (NPH) Registry Completed NCT00233701 Phase 4
4 A Registry for Comparing Catheter-Related Infection Rates Among Various Shunt Systems in the Treatment of Hydrocephalus Completed NCT00280904 Phase 4
5 ShuntCheck Versus Radionuclide in Evaluating Shunt Function in Symptomatic NPH Patients Completed NCT01323764 Phase 4
6 NIMI-NICU: Non Invasive Monitoring of the Intracranial Pressure - NeuroIntensive Care Unit Completed NCT01685476 Phase 4
7 Efficacy and Safety of Selective Serotonin Reuptake Inhibitor (SSRI) in Overactive Bladder Patients Completed NCT00902421 Phase 4
8 Contrast Enhanced Ultrasound Evaluation of Brain Perfusion in Neonatal Post-Hemorrhagic Hydrocephalus Not yet recruiting NCT03061045 Phase 4
9 Effect of Intrathoracic Pressure Regulation on Traumatic Brain Injury Terminated NCT01824589 Phase 4
10 ShuntCheck Accuracy in Detecting Shunt Obstruction Normal Pressure Hydrocephalus (NPH) Patients Withdrawn NCT00793416 Phase 4
11 Multi-Center Study of ShuntCheck Withdrawn NCT00788385 Phase 4
12 Clinical Value of Noninvasive Intracranial Pressure Measurement Unknown status NCT02130219 Phase 2, Phase 3
13 A Randomised Controlled Trial of Lumbar Drainage to Treat Communicating Hydrocephalus After Severe Intraventricular Hemorrhage Completed NCT01041950 Phase 2, Phase 3
14 PET Imaging of Brain Amyloid in Normal Pressure Hydrocephalus Completed NCT01053312 Phase 3
15 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
16 Impact of Ventricular Catheter Used With Antimicrobial Agents on Patients With a Ventricular Catheter Completed NCT00286104 Phase 3
17 Intraoral 30% Glucose Effect In Newborns Completed NCT02325583 Phase 3
18 Premature Infants in Need of Transfusion (PINT) Completed NCT00182390 Phase 3
19 EARLYdrain - Outcome After Early Lumbar CSF-drainage in Aneurysmal SAH Completed NCT01258257 Phase 3
20 High Versus Low Dose of Caffeine for Apnea of Prematurity Completed NCT02103777 Phase 3
21 Caffeine for Apnea of Prematurity (CAP) Completed NCT00182312 Phase 3
22 The CSF Shunt Entry Site Trial Recruiting NCT02425761 Phase 3
23 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Recruiting NCT02651337 Phase 3
24 Transfusion of Prematures Trial Recruiting NCT01702805 Phase 3
25 Ultra-early Tranexamic Acid After Subarachnoid Hemorrhage. Recruiting NCT02684812 Phase 2, Phase 3
26 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Recruiting NCT01376778 Phase 3
27 Randomized Controlled Trial of Shunt vs ETV/CPC for PIH in Ugandan Infants Active, not recruiting NCT01936272 Phase 3
28 Preterm Erythropoietin Neuroprotection Trial (PENUT Trial) Active, not recruiting NCT01378273 Phase 3
29 Isoflurane-induced Neuroinflammation in Children With Hydrocephalus Enrolling by invitation NCT02512809 Phase 3
30 ETV Versus Shunt Surgery in Normal Pressure Hydrocephalus Terminated NCT00946127 Phase 3
31 Positron Emission Tomography Imaging of Brain Amyloid in Normal Pressure Hydrocephalus Terminated NCT01092546 Phase 3
32 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3
33 Intraventricular Tissue Plasminogen Activator (tPA) in the Management of Aneurysmal Subarachnoid Hemorrhage Unknown status NCT01098890 Phase 2
34 Study to Evaluate Efficacy of Shunt Operation for Idiopathic Normal Pressure Hydrocephalus Completed NCT00221091 Phase 2
35 A Study Comparing Two Treatments for Infants With Hydrocephalus Active, not recruiting NCT00652470 Phase 2
36 Optimizing Treatment of Post-hemorrhagic Ventricular Dilation in Preterm Infants Active, not recruiting NCT00875758 Phase 2
37 WEANING-Study: "Weaning by Early Versus lAte Tracheostomy iN supratentorIal iNtracerebral Bleedings Terminated NCT01176214 Phase 2
38 Effect of Intraventricular tPA Following Aneurysmal Subarachnoid Hemorrhage Withdrawn NCT01878136 Phase 1, Phase 2
39 Phase 1 Clinical Trial of PNEUMOSTEM® Treatment in Premature Infants With Intraventricular Hemorrhage Completed NCT02274428 Phase 1
40 Treatment of Subarachnoid Hemorrhage With Human Albumin Terminated NCT01747408 Phase 1
41 Magnetic Resonance Elastography in Hydrocephalus Unknown status NCT02230124
42 Computerised Testing of Cognitive Response to Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT01618500
43 Multimodal Investigation in the Diagnosis and Treatment of Chronic Adult Hydrocephalus Unknown status NCT02278848
44 European Study on Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT00874198
45 Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasound Before and After Drainage of Cerebrospinal Fluid in Patient With Hydrocephalus Unknown status NCT01863329
46 Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasonography Before and After Drainage of Cerebrospinal Fluid in Pediatric Patient With Hydrocephalus Unknown status NCT01865149
47 Prospective Follow-up of a Multicentric Cohort of Children With Prenatal Discovery of Mild Isolated Cerebral Ventriculomegaly. Evaluation at 2 and 5 Years. Unknown status NCT00421772
48 CRT ShuntCheck "Fit & Function" Study Unknown status NCT02067364
49 Isolated Mild Fetal Ventriculomegaly and Neurodevelopmental Outcome Unknown status NCT00256906
50 Physician Preference Study of ShuntCheck - Madsen Unknown status NCT00583336

Search NIH Clinical Center for Hydrocephalus

Cochrane evidence based reviews: hydrocephalus

Genetic Tests for Hydrocephalus

Genetic tests related to Hydrocephalus:

id Genetic test Affiliating Genes
1 Hydrocephalus 29

Anatomical Context for Hydrocephalus

MalaCards organs/tissues related to Hydrocephalus:

Brain, Spinal Cord, Eye, Testes, Pituitary, Pineal, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hydrocephalus:
id Tissue Anatomical CompartmentCell Relevance
1 Brain Choroid Plexus Choroid Plexus Progenitor Cells Affected by disease
2 Brain Choroid Plexus Mature Choroid Plexus Cells Affected by disease

Publications for Hydrocephalus

Articles related to Hydrocephalus:

(show top 50) (show all 2271)
id Title Authors Year
Clinical Correlation of Abnormal Findings on Magnetic Resonance Elastography in Idiopathic Normal Pressure Hydrocephalus. ( 28063896 )
Pulsatile flow in ventricular catheters for hydrocephalus. ( 28507239 )
A case of acute acquired obstructive hydrocephalus in a cat with suspected ischaemic cerebellar infarct. ( 28491457 )
Decreased Expression of hsa-miR-4274 inA Cerebrospinal Fluid of Normal Pressure Hydrocephalus Mimics with Parkinsonian Syndromes. ( 27911315 )
Diagnosis and Differential Diagnosis of Hydrocephalus inA Adults. ( 28511266 )
Factors related to the development of shunt-dependent hydrocephalus following subarachnoid hemorrhage in the elderly. ( 28497436 )
Keyhole approach in the neuroendoscopic treatment for hydrocephalus. ( 28072740 )
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 )
Secondary communicating hydrocephalus management by implantation of external ventricular shunt and minimal gradual increase of cerebrospinal fluid pressure. ( 28484529 )
Supplementary tests in idiopathic normal pressure hydrocephalus: a single center experience with a combined lumbar infusion test and tap test. ( 28089835 )
Asymmetric and Upper-Body Parkinsonism in Patients with Idiopathic Normal-Pressure Hydrocephalus. ( 28516741 )
Loss of Mpdz impairs ependymal cell integrity leading to perinatal-onset hydrocephalus in mice. ( 28500065 )
Use of high frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice. ( 28056489 )
Multiloculated Hydrocephalus: Open Craniotomy or Endoscopy? ( 28490156 )
Acute hydrocephalus due to a primary malignant peripheral nerve sheath tumor of the cervicothoracic junction: A case report and review of the literature. ( 28502561 )
Hydrocephalus in a patient with an unruptured pial arteriovenous fistula: hydrodynamic considerations, endovascular treatment, and clinical course. ( 28059677 )
Hydrocephalus associated with spinal intramedullary pilocytic astrocytoma. ( 28484535 )
Spectral Domain-Optical Coherence Tomography As a New Diagnostic Marker for Idiopathic Normal Pressure Hydrocephalus. ( 28507532 )
Clinical analysis of aqueductal stenosis in patients with hydrocephalus in a Kenyan setting. ( 28533829 )
Hydrocephalus and trigeminal neuralgia: exploring the association and management options. ( 28421829 )
Two times of trigeminal neuralgia resolution following hydrocephalus treatment in a patient with a high-voltage electric shock to his head: a case report and a review of the literature. ( 28429608 )
Dolichoectatic internal carotid artery presenting as a sellar-suprasellar mass with symptomatic hydrocephalus. ( 28488661 )
Neurite orientation dispersion and density imaging for evaluation of corticospinal tract in idiopathic normal pressure hydrocephalus. ( 27787666 )
Cerebrospinal fluid dynamics study in communicating hydrocephalus. ( 28484522 )
Diagnosis of Normal-Pressure Hydrocephalus: Use of Traditional Measures in the Era of Volumetric MR Imaging. ( 28498794 )
Our initial experience with ventriculo-epiplooic shunt in treatment of hydrocephalus in two centers. ( 28528738 )
Olfactory ability in normal pressure hydrocephalus as compared to Alzheimer's disease and healthy controls. ( 28017216 )
Management of hydrocephalus in pediatric metastatic tumors of the posterior fossa at presentation. ( 28497184 )
Paediatric hydrocephalus in Ethiopia: treatment failures and infections - a hospital-based, retrospective study. ( 28057596 )
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 )
Effects of Alzheimer's Disease-Associated Risk Loci on Amyloid-I^ Accumulation in the Brain of Idiopathic Normal Pressure Hydrocephalus Patients. ( 27802227 )
Associations of intracranial pressure with brain biopsy, radiological findings, and shunt surgery outcome in patients with suspected idiopathic normal pressure hydrocephalus. ( 27878614 )
Tuberculous meningitis and hydrocephalus in Filippino de' Medici. ( 28504108 )
Timing of surgical treatment for idiopathic normal pressure hydrocephalus: association between treatment delay and reduced short-term benefit. ( 27581314 )
Grossly calcified choroid plexus concealing foramen of Monro meningiomas as an unusual cause of obstructive hydrocephalus. ( 26889294 )
Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report. ( 26851742 )
Different origins of hydrocephalus lead to different shunt revision rates. ( 28063609 )
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS). ( 27207492 )
The Prediction of Shunt Response in Idiopathic Normal-Pressure Hydrocephalus Based on Intracranial Pressure Monitoring and Lumbar Infusion. ( 27165919 )
Endoscopic third ventriculostomy for obstructive hydrocephalus: Outcome analysis of 120 consecutively treated patients from a developing country. ( 26700200 )
Entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus. ( 27858679 )
Clinical outcomes in the surgical treatment of idiopathic normal pressure hydrocephalus. ( 26935749 )
The effect of shunt surgery on neuropsychological performance in normal pressure hydrocephalus: a systematic review and meta-analysis. ( 27017344 )
Long term follow-up of repeat endoscopic third ventriculostomy in obstructive hydrocephalus. ( 28034816 )
Choroidal fissure acts as an overflow device in cerebrospinal fluid drainage: morphological comparison between idiopathic and secondary normal-pressure hydrocephalus. ( 27941913 )
Hydrocephalus in tuberculous meningitis - how late can it present? ( 27417414 )
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. ( 27841240 )
Diarrhea-associated pneumococcal meningitis with complicating hydrocephalus in a child in a resource-limited setting. ( 27580337 )
Are Shunt Revisions Associated with IQ in Congenital Hydrocephalus? A Meta -Analysis. ( 27815765 )
Chronic Encapsulated Expanding Thalamic Hematoma Associated with Obstructive Hydrocephalus following Radiosurgery for a Cerebral Arteriovenous Malformation: A Case Report and Literature Review. ( 26904328 )

Variations for Hydrocephalus

ClinVar genetic disease variations for Hydrocephalus:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 L1CAM NM_000425.4(L1CAM): c.2432-19A> C single nucleotide variant Pathogenic rs879253713 GRCh37 Chromosome X, 153131293: 153131293
2 L1CAM NM_000425.4(L1CAM): c.791G> A (p.Cys264Tyr) single nucleotide variant Pathogenic rs137852518 GRCh37 Chromosome X, 153135858: 153135858
3 L1CAM L1CAM, 1.3-KB DUP duplication Pathogenic
4 L1CAM NM_000425.4(L1CAM): c.1354G> A (p.Gly452Arg) single nucleotide variant Pathogenic rs137852520 GRCh37 Chromosome X, 153134321: 153134321
5 L1CAM NM_000425.4(L1CAM): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs137852521 GRCh37 Chromosome X, 153136388: 153136388
6 L1CAM NM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 GRCh37 Chromosome X, 153128311: 153128311
7 L1CAM NM_000425.4(L1CAM): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs137852526 GRCh37 Chromosome X, 153135930: 153135930
8 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
9 L1CAM NM_000425.4(L1CAM): c.3458-1G> C single nucleotide variant Pathogenic rs879253724 GRCh37 Chromosome X, 153129005: 153129005
10 CCDC88C NM_001080414.3(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 GRCh37 Chromosome 14, 91744265: 91744265
11 CCDC88C NM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 GRCh37 Chromosome 14, 91804465: 91804465
12 CCDC88C NM_001080414.3(CCDC88C): c.5841_5842delAG (p.Glu1949Glyfs) deletion Pathogenic rs387907321 GRCh37 Chromosome 14, 91739214: 91739215
13 L1CAM NM_000425.4(L1CAM): c.23delT (p.Val8Glyfs) deletion Pathogenic rs398123362 GRCh37 Chromosome X, 153141269: 153141269
14 L1CAM NM_000425.4(L1CAM): c.2879delA (p.Glu960Glyfs) deletion Pathogenic rs398123364 GRCh37 Chromosome X, 153130443: 153130443
15 ATP1A3 NM_152296.4(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
16 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh38 Chromosome 17, 2039760: 2039760
17 ARFGEF2 NM_006420.2(ARFGEF2): c.656dupC (p.Val220Cysfs) duplication Pathogenic/Likely pathogenic rs730882200 GRCh38 Chromosome 20, 48953608: 48953608
18 L1CAM NM_000425.4(L1CAM): c.924C> T (p.Gly308=) single nucleotide variant Pathogenic/Likely pathogenic rs797044787 GRCh37 Chromosome X, 153135578: 153135578
19 L1CAM NM_000425.4(L1CAM): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs875989884 GRCh37 Chromosome X, 153132155: 153132155
20 ALDH7A1 NM_001182.4(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 GRCh37 Chromosome 5, 125880712: 125880712

Expression for Hydrocephalus

Search GEO for disease gene expression data for Hydrocephalus.

Pathways for Hydrocephalus

GO Terms for Hydrocephalus

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

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.1 HYDIN L1CAM MAPT MBP MPDZ SPAG6

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of neural precursor cell proliferation GO:2000179 8.96 FLNA NES
2 positive regulation of transcription factor import into nucleus GO:0042993 8.62 FLNA PIK3R2

Sources for Hydrocephalus

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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