MCID: HYD006
MIFTS: 66

Hydrocephalus

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

Aliases & Classifications for Hydrocephalus

MalaCards integrated aliases for Hydrocephalus:

Name: Hydrocephalus 12 74 53 29 54 6 42 43 15 71 32
Hydrocephalus, Nonsyndromic, Autosomal Recessive 12 39
Hydrocephalus Adverse Event 71
Hydrocephalus, X-Linked 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10908
MeSH 43 D006849
NCIt 49 C3111
SNOMED-CT 67 230745008
ICD10 32 G91 G91.9 G94.2
UMLS 71 C0020255 C1963137

Summaries for Hydrocephalus

NINDS : 53 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, is related to congenital hydrocephalus and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, and has symptoms including seizures, tremor and back pain. An important gene associated with Hydrocephalus is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are PI3K-Akt signaling pathway and NFAT and Cardiac Hypertrophy. The drugs Propofol and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include Brain, and related phenotypes are growth/size/body region and behavior/neurological

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.

MedlinePlus : 42 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

Wikipedia : 74 Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the... more...

Related Diseases for Hydrocephalus

Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Congenital, 1
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Congenital Hydrocephalus
Hydrocephalus Autosomal Recessive

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

(show top 50) (show all 1278)
# Related Disease Score Top Affiliating Genes
1 congenital hydrocephalus 35.4 TRIM71 MPDZ L1CAM CCDC88C
2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 35.2 PIK3R2 CCND2 AKT3
3 obstructive hydrocephalus 34.8 ZIC3 MPDZ FOXJ1
4 vacterl association with hydrocephalus 34.8 PTEN FANCB
5 congenital communicating hydrocephalus 34.6 TRIM71 MPDZ
6 dandy-walker syndrome 34.4 MPDZ KIAA1109 FOXC1 DPH1 CCDC88C
7 vacterl with hydrocephalus 34.3 PTEN FANCB
8 megalencephaly-capillary malformation-polymicrogyria syndrome 33.3 PIK3R2 AKT3
9 vacterl association with hydrocephaly, x-linked 33.1 ZIC3 FANCB
10 cowden syndrome 1 32.1 PTEN PIK3R2 AKT3
11 megalencephaly 31.5 PIK3R2 CCND2 AKT3
12 polymicrogyria 31.4 PIK3R2 CCND2 AKT3
13 vacterl association 31.2 ZIC3 PTEN FANCB
14 microcephaly 31.0 WDR81 PTEN L1CAM FOXC1 FGFR3 ARFGEF2
15 syndromic craniosynostosis 30.8 FGFR3 FGFR2
16 proteus syndrome 30.5 PTEN PIK3R2 FGFR3 AKT3
17 plagiocephaly 30.5 FGFR3 FGFR2
18 cerebral degeneration 30.4 ZIC3 L1CAM HYDIN FOXJ1
19 fgfr craniosynostosis syndromes 30.3 FGFR3 FGFR2
20 normal pressure hydrocephalus 12.8
21 hydrocephalus, congenital, 1 12.7
22 hydrocephalus, congenital, 2, with or without brain or eye anomalies 12.6
23 hydrocephalus due to congenital stenosis of aqueduct of sylvius 12.6
24 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.5
25 vacterl association, x-linked, with or without hydrocephalus 12.5
26 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.5
27 hydrocephalus, congenital, 3, with brain anomalies 12.5
28 communicating hydrocephalus 12.5
29 hydrocephalus, endocardial fibroelastosis, and cataracts 12.5
30 thoracic dysplasia-hydrocephalus syndrome 12.5
31 hydrocephalus, congenital communicating, 1 12.5
32 hydrocephalus obesity hypogonadism 12.5
33 hydrocephalus, normal-pressure, 1 12.4
34 hydrocephalus with cerebellar agenesis 12.4
35 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 12.4
36 hydrocephalus with stenosis of the aqueduct of sylvius 12.4
37 hydrocephalus, autosomal dominant 12.4
38 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 12.3
39 masa syndrome 12.3
40 hydrocephalus with associated malformations 12.3
41 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 12.2
42 isolated dandy-walker malformation without hydrocephalus 12.2
43 isolated dandy-walker malformation with hydrocephalus 12.2
44 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 12.2
45 hydrocephalus skeletal anomalies 12.2
46 walker-warburg syndrome 12.1
47 hydrocephalus autosomal recessive 12.0
48 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.0
49 port-wine nevi-mega cisterna magna-hydrocephalus syndrome 12.0
50 daentl towsend siegel syndrome 12.0

Graphical network of the top 20 diseases related to Hydrocephalus:



Diseases related to Hydrocephalus

Symptoms & Phenotypes for Hydrocephalus

UMLS symptoms related to Hydrocephalus:


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

MGI Mouse Phenotypes related to Hydrocephalus:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 AKT3 ARFGEF2 DPH1 FANCB FGFR2 FGFR3
2 behavior/neurological MP:0005386 10.35 AKT3 CCND2 FGFR2 FGFR3 FOXJ1 HYDIN
3 cardiovascular system MP:0005385 10.34 AKT3 CCND2 FGFR2 FOXC1 FOXJ1 HYDIN
4 cellular MP:0005384 10.32 AKT3 ARFGEF2 DPH1 FANCB FGFR2 FGFR3
5 mortality/aging MP:0010768 10.31 AKT3 ARFGEF2 CCND2 DPH1 FGFR2 FGFR3
6 nervous system MP:0003631 10.21 AKT3 ARFGEF2 CCND2 DPH1 FGFR2 FGFR3
7 craniofacial MP:0005382 10.15 DPH1 FGFR2 FGFR3 FOXC1 FOXJ1 HYDIN
8 integument MP:0010771 10.09 DPH1 FGFR2 FGFR3 FOXC1 KIAA1109 L1CAM
9 digestive/alimentary MP:0005381 10.02 DPH1 FGFR2 FGFR3 FOXC1 FOXJ1 PTEN
10 reproductive system MP:0005389 10 AKT3 CCND2 FANCB FGFR2 FGFR3 FOXC1
11 respiratory system MP:0005388 9.81 DPH1 FGFR2 FGFR3 FOXC1 FOXJ1 HYDIN
12 pigmentation MP:0001186 9.72 DPH1 FGFR2 FOXC1 L1CAM PTEN
13 skeleton MP:0005390 9.65 CCND2 DPH1 FGFR2 FGFR3 FOXC1 HYDIN
14 vision/eye MP:0005391 9.36 CCND2 DPH1 FGFR2 FGFR3 FOXC1 KIAA1109

Drugs & Therapeutics for Hydrocephalus

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

(show top 50) (show all 170)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
8 Anesthetics Phase 4
9 Adrenergic alpha-Agonists Phase 4
10 Adrenergic Agents Phase 4
11 Anesthetics, General Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Analgesics Phase 4
14 Adrenergic Agonists Phase 4
15 Hypnotics and Sedatives Phase 4
16 Anesthetics, Inhalation Phase 4
17 Neurotransmitter Agents Phase 4
18 Pharmaceutical Solutions Phase 4
19 Anesthetics, Intravenous Phase 4
20 Anti-Arrhythmia Agents Phase 4
21 Cholinergic Agents Phase 4
22 Serotonin Receptor Agonists Phase 4
23 Muscarinic Antagonists Phase 4
24 Serotonin Uptake Inhibitors Phase 4
25 Cholinergic Antagonists Phase 4
26 Sodium Channel Blockers Phase 4
27 Platelet Aggregation Inhibitors Phase 4
28 Diuretics, Potassium Sparing Phase 4
29
Glycopyrrolate Phase 4 596-51-0 3494
30 Anesthetics, Local Phase 4
31
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
32
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
33
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213
34
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
35
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
36
Sodium citrate Approved, Investigational Phase 3 68-04-2
37
Caffeine Approved Phase 3 58-08-2 2519
38
Simvastatin Approved Phase 2, Phase 3 79902-63-9 54454
39
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
40
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
41
Naproxen Approved, Vet_approved Phase 2, Phase 3 22204-53-1 1302 156391
42
Guaifenesin Approved, Investigational, Vet_approved Phase 2, Phase 3 93-14-1 3516
43
Codeine Approved, Illicit Phase 2, Phase 3 76-57-3 5284371
44
Aspirin Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
45
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
46
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
47
Tranexamic Acid Approved Phase 2, Phase 3 1197-18-8 5526
48
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
49
Remifentanil Approved Phase 3 132875-61-7 60815
50
Isoflurane Approved, Vet_approved Phase 3 26675-46-7 3763

Interventional clinical trials:

(show top 50) (show all 241)
# Name Status NCT ID Phase Drugs
1 Validation of a New Non Invasive Method of Indirect Measurement of the Intracranial Pressure Variations Unknown status NCT01685450 Phase 4
2 An Operator-Blinded Study of the Efficacy of ShuntCheck-Micro-Pumper, a Non-Invasive Diagnostic Procedure, in Detecting Ventricular Shunt Patency or Occlusion and in Predicting Clinical Outcome in Children and Adolescents Presenting to Emergency Departments and Neurosurgery Clinics Unknown status NCT01881711 Phase 4
3 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
4 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon: A Prospective Randomized Clinical Trial Injury to Reduce Sympathetic Storm Phenomenon: A Prospective Randomized Clinical Trial Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
5 Establishment of Baseline and Comparative Infection Rates for the Codman BACTISEAL TM External Ventricular Drainage (EVD) System Completed NCT00197392 Phase 4
6 Validation of a New Non Invasive Method for Intracranial Pressure Monitoring Completed NCT01685476 Phase 4
7 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
8 An Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Completed NCT03513757 Phase 4 propofol;Dexmedetomidine;Glycopyrrolate;Lidocaine 1% Injectable Solution;Nitrous Oxide;Sevoflurane
9 EFFICACY OF KETAMINE-PROPOFOL COMBINATION FOR SHORT SURGICAL PROCEDURES Completed NCT01651988 Phase 4 Ketamina-Propofol Combination
10 Effects of Intrathoracic Pressure Regulation Therapy in Patients With Elevated Intracranial Pressure Due to Brain Injury or Intracranial Pathology Terminated NCT01824589 Phase 4
11 Multi-Center Study of ShuntCheck Withdrawn NCT00788385 Phase 4
12 Accuracy of ShuntCheck and MRI in Detection of Shunt Obstruction in Patients Receiving Shunt Patency Test Withdrawn NCT00793416 Phase 4
13 Contrast Enhanced Ultrasound Evaluation of Brain Perfusion in Neonatal Post-Hemorrhagic Hydrocephalus Withdrawn NCT03061045 Phase 4 Sulfur Hexafluoride Lipid Type A Microspheres 25 MG Intravenous Powder for Suspension [LUMASON]
14 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
15 Lumbar Drainage for Communicating Hydrocephalus After Intraventricular Hemorrhage: a Randomised, Controlled Trial(LUCAS-IVH: LUmbar CAtheter for Severe IntraVentricular Hemorrhage) Completed NCT01041950 Phase 2, Phase 3
16 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
17 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
18 Baskent University Institutional Review Board Completed NCT02325583 Phase 3 30% Glucose;Midazolam
19 The Impact of Ventricular Catheter Impregnated With Antimicrobial Agents on Infection in Patients With Ventricular Catheter: A Prospective Randomized Study Completed NCT00286104 Phase 3
20 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
21 High Versus Low Dose of Caffeine for Apnea of Prematurity: A Double Blind Randomized Control Trial Completed NCT02103777 Phase 3 Caffeine citrate
22 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Completed NCT02651337 Phase 3
23 EARLYdrain - Prospective Outcome Study of Early Lumbar Drainage in Aneurysmal Subarachnoid Hemorrhage Completed NCT01258257 Phase 3
24 High-dose Simvastatin for Aneurysmal Subarachnoid Haemorrhage: Is it Better? Completed NCT01077206 Phase 2, Phase 3 Simvastatin
25 A Multicenter, Double-blind, Randomized, Placebo-controlled Study of Weight-Reduction and/or Low Sodium Diet Plus Acetazolamide vs Diet Plus Placebo in Subjects With Idiopathic Intracranial Hypertension With Mild Visual Loss Completed NCT01003639 Phase 2, Phase 3 Acetazolamide;Placebo
26 Intraventricular Fibrinolysis Versus External Ventricular Drainage Alone in Aneurysmal Subarachnoid Hemorrhage: a Randomized Controlled Trial. Recruiting NCT03187405 Phase 3 EVD + IVF with Alteplase
27 Voices of Patients' Relatives to Support Weaning From Mechanical Ventilation in Patients With Severe Brain Injury - VOICE-WEANING, a Randomized Clinical Trial Recruiting NCT03795623 Phase 2, Phase 3
28 A Randomized Double Blind Placebo Controlled Trial of Adjunctive Dexamethasone for the Treatment of HIV-infected Adults With Tuberculous Meningitis Recruiting NCT03092817 Phase 3 Dexamethasone
29 A Randomized Double Blind Placebo Controlled Non-inferiority Trial of Adjunctive Dexamethasone for the Treatment of HIV-uninfected Adults With Tuberculous Meningitis Stratified by Leukotriene A4 Hydrolase Genotype Recruiting NCT03100786 Phase 3 Dexamethasone
30 A Randomized Controlled Trial of Anterior Versus Posterior Entry Site for Cerebrospinal Fluid Shunt Insertion Active, not recruiting NCT02425761 Phase 3
31 Erythropoietin for the Repair of Cerebral Injury in Very Preterm Infants - a Randomized, Double-blind, Placebo-controlled, Prospective, and Multicenter Clinical Study Active, not recruiting NCT02076373 Phase 3 recombinant human Erythropoietin;Placebo
32 Preterm Erythropoietin Neuroprotection Trial (PENUT Trial) Active, not recruiting NCT01378273 Phase 3 Epo
33 Ultra-early Tranexamic Acid After Subarachnoid Hemorrhage. A Prospective, Randomized, Multicenter Study. Active, not recruiting NCT02684812 Phase 2, Phase 3 Tranexamic Acid
34 Efficacy and Safety of Neuroprotectant Cattle Encephalon Glycoside and Ignotin Injection for Intracerebral Hemorrhage: a Multicenter, Randomized, Double-blinded, Placebo-controlled Trial. Not yet recruiting NCT03546283 Phase 3 Placebos;Cattle Encephalon Glycoside and Ignotin
35 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
36 Isoflurane-induced Neuroinflammation in Children With Hydrocephalus: A Bench-to-bedside, Translational Study of Molecular Pathways and Therapeutic Approaches Terminated NCT02512809 Phase 3 Isoflurane;Dexmedetomidine
37 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
38 Comparison of Ceftazidime Pharmacokinetic in Cerebrospinal Fluid Between Continuous and Intermittent Administration Unknown status NCT00752882 Phase 2 ceftazidime
39 Intraventricular Tissue Plasminogen Activator in the Management of Aneurysmal Subarachnoid Hemorrhage: a Randomized Controlled Pilot Study Unknown status NCT01098890 Phase 2 Tissue Plasminogen Activator;Placebo
40 Clinical Study of Idiopathic Normal Pressure Hydrocephalus for Neurological Improvement Completed NCT00221091 Phase 2
41 International Infant Hydrocephalus Study: A Multicentre, Prospective Study Completed NCT00652470 Phase 2
42 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
43 Lumbar Drainage of Cerebrospinal Fluid in Aneurysmal Subarachnoid Haemorrhage: A Prospective Randomised Controlled Trial Completed NCT00842049 Phase 2
44 Effects of Systemic Erythropoietin Therapy on Cerebral Autoregulation and Incidence of Delayed Ischemic Deficits in Patients With Aneurysmal Subarachnoid Hemorrhage Completed NCT00140010 Phase 2 erythropoietin beta
45 Acetazolamide for Treating NPH in Shunt-candidates Patients: an Open Label Feasibility Trial Recruiting NCT03779594 Phase 2 Acetazolamide
46 An Open-label Non-randomized Phase IIa Trial to Evaluate Safety of Early Intervention in Asymptomatic Subarachnoid Neurocysticercosis Not yet recruiting NCT03950037 Phase 2 Albendazole
47 Deferiprone Trial for Subarachnoid Hemorrhage (SAH) Patients Not yet recruiting NCT03754725 Phase 2 Deferiprone pill;placebo
48 A Placebo-Controlled, Observer-Blinded, Crossover Study to Evaluate the Safety and Effectiveness of a Single, Autologous, Cord Blood Stem Cell Infusion for the Treatment of Cerebral Palsy in Children Terminated NCT01072370 Phase 1, Phase 2
49 Weaning by Early Versus lAte Tracheostomy iN supratentorIal iNtracerebral Bleedings Terminated NCT01176214 Phase 2
50 Pilot Study of mTOR Inhibitor Therapy for Treatment of Intestinal Polyps in Peutz-Jeghers Syndrome Terminated NCT00811590 Phase 2 Everolimus

Search NIH Clinical Center for Hydrocephalus

Cochrane evidence based reviews: hydrocephalus

Genetic Tests for Hydrocephalus

Genetic tests related to Hydrocephalus:

# Genetic test Affiliating Genes
1 Hydrocephalus 29

Anatomical Context for Hydrocephalus

MalaCards organs/tissues related to Hydrocephalus:

40
Brain, Testes, Pineal, Spinal Cord, Pituitary, Eye, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hydrocephalus:
# 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 24813)
# Title Authors PMID Year
1
Hydrocephalus in Guillain barre syndrome: A case report and review of the literature. 42 61
32311917 2020
2
Idiopathic Normal Pressure Hydrocephalus (Hakim-Adams Syndrome): Clinical Symptoms, Diagnosis and Treatment. 42 61
32160166 2019
3
Standard of Care: Reasonable But Not Perfect. 42
32114775 2020
4
Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. 54 61
20490765 2010
5
A novel L1CAM mutation in a fetus detected by prenatal diagnosis. 61 54
19685344 2010
6
L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. 54 61
19641926 2009
7
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). 61 54
19300444 2009
8
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. 61 54
18485929 2008
9
The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules. 54 61
17683645 2007
10
L1CAM mutation in a boy with hydrocephalus and duplex kidneys. 61 54
17294222 2007
11
Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. 54 61
17486624 2007
12
Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish. 61 54
17394468 2007
13
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 61 54
17318848 2007
14
Hydin seek: finding a function in ciliary motility. 61 54
17296793 2007
15
Aquaporin 4 and hydrocephalus. 61 54
17184077 2006
16
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. 54 61
17328266 2006
17
Biomarkers in chronic adult hydrocephalus. 54 61
17020616 2006
18
A novel domain suggests a ciliary function for ASPM, a brain size determining gene. 61 54
16443634 2006
19
[Brain edema and aquaporin]. 61 54
16313100 2005
20
A novel L1CAM mutation with L1 spectrum disorders. 54 61
15662685 2005
21
Subependymal giant cell tumors in tuberous sclerosis complex. 54 61
15505165 2004
22
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. 61 54
15165674 2004
23
Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. 54 61
15108295 2004
24
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. 61 54
15148591 2004
25
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 54 61
12588800 2003
26
X-linked hydrocephalus: another two families with an L1 mutation. 54 61
12725590 2003
27
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons. 54 61
12442287 2002
28
X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. 61 54
12435569 2002
29
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes. 54 61
11968085 2002
30
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 61 54
11857550 2002
31
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 61 54
11772994 2002
32
Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases. 61 54
11787037 2001
33
Elevated nerve growth factor and neurotrophin-3 levels in cerebrospinal fluid of children with hydrocephalus. 54 61
11580868 2001
34
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. 54 61
11438988 2001
35
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 54 61
10797421 2000
36
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. 61 54
9832035 1998
37
The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. 54 61
9635428 1998
38
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 61 54
9643285 1998
39
Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus. 61 54
9450886 1998
40
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. 61 54
9521424 1998
41
Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree. 54 61
9452098 1998
42
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. 61 54
9440802 1997
43
Neurotrophin-3 levels in the cerebrospinal fluid of patients with schizophrenia or medical illness. 54 61
9463844 1997
44
Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. 54 61
9279760 1997
45
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. 61 54
9268105 1997
46
Overexpression of nestin and vimentin in the ependyma of spinal cords from hydrocephalic infants. 61 54
9061685 1997
47
A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus. 61 54
9088116 1996
48
A new mutation of the L1CAM gene in an X-linked hydrocephalus family. 54 61
9118141 1996
49
Overexpression of nestin and vimentin in ependymal cells in hydrocephalus. 61 54
8811130 1996
50
A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus. 54 61
8786080 1996

Variations for Hydrocephalus

ClinVar genetic disease variations for Hydrocephalus:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
2 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
3 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
4 NCBI36/hg18 9q22.32-22.33(chr9:95946863-99986314)x1copy number loss Pathogenic 694603
5 ARFGEF2 NM_006420.3(ARFGEF2):c.656dup (p.Val220fs)duplication Pathogenic 183282 rs730882200 20:47570141-47570142 20:48953604-48953605
6 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)SNV Pathogenic 374077 rs1057518879 1:12025628-12025628 1:11965571-11965571
7 KIAA1109 NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter)SNV Pathogenic/Likely pathogenic 183349 rs730882245 4:123128323-123128323 4:122207168-122207168
8 DPH1 NM_001383.4(DPH1):c.701T>C (p.Leu234Pro)SNV Pathogenic/Likely pathogenic 183359 rs730882250 17:1943054-1943054 17:2039760-2039760
9 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)SNV Pathogenic/Likely pathogenic 13271 rs121918494 10:123276877-123276877 10:121517363-121517363
10 NID1 NM_002508.3(NID1):c.3385+1G>ASNV Likely pathogenic 183319 rs730882225 1:236143795-236143795 1:235980495-235980495
11 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs)duplication Likely pathogenic 632606 rs1563406024 8:28413316-28413317 8:28555799-28555800
12 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)SNV Likely pathogenic 632604 rs1569234334 X:69549270-69549270 X:70329420-70329420
13 TMEM92 NM_153229.3(TMEM92):c.95+3A>GSNV Likely pathogenic 183355 rs730882247 17:48355104-48355104 17:50277743-50277743
14 PDGFRB NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)SNV Conflicting interpretations of pathogenicity 375682 rs1060499542 5:149505119-149505119 5:150125556-150125556
15 KCNT1 NM_020822.3(KCNT1):c.1407C>G (p.His469Gln)SNV Uncertain significance 451447 rs537722828 9:138660680-138660680 9:135768834-135768834
16 46;XX;inv(2)(p11q13)dninversion Uncertain significance 267797
17 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
18 CCDC88C NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)SNV Uncertain significance 587642 rs142295786 14:91739805-91739805 14:91273461-91273461
19 CCDC88C NM_001080414.4(CCDC88C):c.3539G>A (p.Arg1180Gln)SNV Uncertain significance 587522 rs1166585047 14:91770141-91770141 14:91303797-91303797

Expression for Hydrocephalus

Search GEO for disease gene expression data for Hydrocephalus.

Pathways for Hydrocephalus

Pathways related to Hydrocephalus according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 PTEN PIK3R2 FGFR3 FGFR2 CCND2 AKT3
2
Show member pathways
12.74 PTEN PIK3R2 FGFR3 FGFR2 AKT3
3
Show member pathways
12.57 PTEN PIK3R2 FGFR3 FGFR2 AKT3
4 12.52 PTEN PIK3R2 FGFR3 FGFR2 CCND2 AKT3
5
Show member pathways
12.51 PTEN PIK3R2 FGFR2 CCND2 AKT3
6
Show member pathways
12.43 PTEN PIK3R2 FGFR3 FGFR2 AKT3
7
Show member pathways
12.37 PTEN FGFR3 FGFR2 AKT3
8
Show member pathways
12.34 PTEN PIK3R2 CCND2 AKT3
9
Show member pathways
12.29 PIK3R2 FGFR3 FGFR2 AKT3
10 12.29 TRIM71 PTEN PIK3R2 FGFR3 CCND2
11
Show member pathways
12.24 PTEN PIK3R2 CCND2 AKT3
12
Show member pathways
12.24 PIK3R2 FGFR3 FGFR2 AKT3
13
Show member pathways
12.23 PTEN PIK3R2 FGFR3 FGFR2 AKT3
14 12.19 PTEN PIK3R2 CCND2 AKT3
15 11.95 PTEN PIK3R2 CCND2 AKT3
16
Show member pathways
11.87 PTEN PIK3R2 CCND2 AKT3
17 11.84 PTEN PIK3R2 AKT3
18
Show member pathways
11.83 PTEN PIK3R2 AKT3
19
Show member pathways
11.82 PTEN PIK3R2 FGFR3 FGFR2 CCND2 AKT3
20 11.72 PTEN PIK3R2 AKT3
21 11.72 PTEN PIK3R2 AKT3
22 11.62 PTEN PIK3R2 CCND2 AKT3
23 11.51 ZIC3 PIK3R2 FGFR3 FGFR2 AKT3
24 10.87 PTEN PIK3R2 FGFR3 FGFR2 AKT3

GO Terms for Hydrocephalus

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

# Name GO ID Score Top Affiliating Genes
1 Schmidt-Lanterman incisure GO:0043220 8.62 PTEN MPDZ

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.58 TRIM71 FGFR3 FGFR2
2 multicellular organism development GO:0007275 9.5 ZIC3 TRIM71 L1CAM HYDIN FOXC1 FGFR3
3 mesenchymal cell differentiation GO:0048762 9.37 FOXC1 FGFR2
4 regulation of epithelial cell differentiation GO:0030856 9.32 KIAA1109 FOXJ1
5 positive regulation of phospholipase activity GO:0010518 9.26 FGFR3 FGFR2
6 endochondral bone growth GO:0003416 9.16 FGFR3 FGFR2
7 lacrimal gland development GO:0032808 8.62 FOXC1 FGFR2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 ZIC3 WDR81 TRIM71 PTEN PLOD1 PIK3R2
2 fibroblast growth factor-activated receptor activity GO:0005007 8.96 FGFR3 FGFR2

Sources for 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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