MCID: HYD006
MIFTS: 69

Hydrocephalus

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

Aliases & Classifications for Hydrocephalus

MalaCards integrated aliases for Hydrocephalus:

Name: Hydrocephalus 38 12 76 54 29 55 6 43 44 15 73
Hydrocephalus, Nonsyndromic, Autosomal Recessive 12
Hydrocephalus Adverse Event 73
Hydrocephalus, X-Linked 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10908
ICD10 33 G91 G91.9
MeSH 44 D006849
NCIt 50 C3111

Summaries for Hydrocephalus

NINDS : 54 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 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and hydrocephalus, nonsyndromic, autosomal recessive 1, and has symptoms including back pain, headache and pain. An important gene associated with Hydrocephalus is CCDC88C (Coiled-Coil Domain Containing 88C), and among its related pathways/superpathways are PI3K-Akt signaling pathway and NFAT and Cardiac Hypertrophy. The drugs Propranolol and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include Brain and Brain, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

MedlinePlus : 43 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 : 76 Hydrocephalus is a condition in which there is an accumulation of cerebrospinal fluid (CSF) within the... more...

Related Diseases for Hydrocephalus

Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
Congenital Hydrocephalus Hydrocephalus Autosomal Recessive

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

(show top 50) (show all 597)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 35.2 AKT3 CCND2 PIK3R2
2 hydrocephalus, nonsyndromic, autosomal recessive 1 34.9 CCDC88C MPDZ
3 vacterl association with hydrocephalus 34.8 FANCB PTEN
4 congenital hydrocephalus 34.8 CCDC88C FOXC1 HYDIN L1CAM MPDZ STK36
5 vacterl association with hydrocephaly, x-linked 33.2 FANCB ZIC3
6 dandy-walker syndrome 33.1 DPH1 KIAA1109
7 dandy-walker complex 33.0 DPH1 KIAA1109
8 megalencephaly-capillary malformation-polymicrogyria syndrome 32.7 AKT3 PIK3R2
9 megalencephaly 31.5 AKT3 CCND2 PIK3R2 PTEN
10 vacterl association 31.0 FANCB PTEN ZIC3
11 cutis marmorata telangiectatica congenita 30.9 AKT3 PIK3R2
12 proteus syndrome 30.7 AKT3 PIK3R2 PTEN
13 muenke syndrome 30.3 AKT3 FGFR2 FGFR3
14 hydrocephalus, normal-pressure 12.5
15 hydrocephalus due to congenital stenosis of aqueduct of sylvius 12.2
16 vacterl association, x-linked, with or without hydrocephalus 12.2
17 hydrocephalus, endocardial fibroelastosis, and cataracts 12.2
18 communicating hydrocephalus 12.2
19 obstructive hydrocephalus 12.1
20 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.1
21 hydrocephalus, nonsyndromic, autosomal recessive 2 12.1
22 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.1
23 hydrocephalus with stenosis of the aqueduct of sylvius 12.1
24 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.0
25 congenital non-communicating hydrocephalus 12.0
26 hydrocephalus-cleft palate-joint contractures syndrome 12.0
27 congenital communicating hydrocephalus 12.0
28 masa syndrome 11.9
29 isolated dandy-walker malformation without hydrocephalus 11.9
30 isolated dandy-walker malformation with hydrocephalus 11.9
31 vacterl with hydrocephalus 11.9
32 hydrocephalus with associated malformations 11.8
33 hydrocephalus, autosomal dominant 11.8
34 thoracic dysplasia-hydrocephalus syndrome 11.8
35 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.8
36 hydrocephalus obesity hypogonadism 11.8
37 hydrocephalus with cerebellar agenesis 11.8
38 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 11.8
39 walker-warburg syndrome 11.7
40 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 11.7
41 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.7
42 hydrocephalus autosomal recessive 11.7
43 hydrocephalus craniosynostosis bifid nose 11.7
44 hydrocephalus growth retardation skeletal anomalies 11.7
45 hydrocephalus skeletal anomalies 11.7
46 tibial aplasia ectrodactyly hydrocephalus 11.7
47 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.7
48 beemer ertbruggen syndrome 11.6
49 chudley-mccullough syndrome 11.6
50 daentl towsend siegel syndrome 11.5

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

GenomeRNAi Phenotypes related to Hydrocephalus according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.17 STK36
2 Decreased substrate adherent cell growth GR00193-A-2 9.17 AKT3 FGFR2
3 Decreased substrate adherent cell growth GR00193-A-3 9.17 AKT3 FGFR2 FGFR3 STK36

MGI Mouse Phenotypes related to Hydrocephalus:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 PLOD1 PTEN STK36 ZIC3 AKT3 AP1S2
2 cellular MP:0005384 10.38 AP1S2 ARFGEF2 DPH1 FANCB FGFR2 FGFR3
3 growth/size/body region MP:0005378 10.37 HYDIN L1CAM NFIA PIK3R2 PTEN STK36
4 mortality/aging MP:0010768 10.31 AKT3 ARFGEF2 CCND2 DPH1 FGFR2 FGFR3
5 nervous system MP:0003631 10.21 AKT3 AP1S2 ARFGEF2 CCND2 DPH1 FGFR2
6 cardiovascular system MP:0005385 10.2 CCND2 FGFR2 FOXC1 HYDIN PIK3R2 PLOD1
7 craniofacial MP:0005382 10.18 FGFR2 FGFR3 FOXC1 HYDIN L1CAM NFIA
8 endocrine/exocrine gland MP:0005379 10.16 AKT3 AP1S2 CCND2 FANCB FGFR2 FOXC1
9 integument MP:0010771 10.08 AP1S2 DPH1 FGFR2 FGFR3 FOXC1 L1CAM
10 reproductive system MP:0005389 10.03 AKT3 CCND2 FANCB FGFR2 FGFR3 FOXC1
11 limbs/digits/tail MP:0005371 10 DPH1 FGFR2 FGFR3 FOXC1 PLOD1 PTEN
12 neoplasm MP:0002006 9.88 AKT3 DPH1 FGFR2 FGFR3 PIK3R2 PTEN
13 respiratory system MP:0005388 9.76 DPH1 FGFR2 FGFR3 FOXC1 HYDIN PTEN
14 pigmentation MP:0001186 9.72 DPH1 FGFR2 FOXC1 L1CAM PTEN
15 skeleton MP:0005390 9.65 DPH1 FGFR2 FGFR3 FOXC1 HYDIN L1CAM
16 vision/eye MP:0005391 9.28 L1CAM PTEN ZIC3 CCND2 DPH1 FGFR2

Drugs & Therapeutics for Hydrocephalus

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

(show top 50) (show all 171)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 4 525-66-6 4946
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Acetaminophen Approved Phase 4 103-90-2 1983
4
Cefotaxime Approved Phase 4 63527-52-6 456256 5742673
5
Cefoxitin Approved Phase 4 35607-66-0 441199
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3 50-02-2 5743
7 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3
8 Adrenergic Agents Phase 4,Phase 3,Phase 1,Phase 2
9 Adrenergic Antagonists Phase 4
10 Adrenergic beta-Antagonists Phase 4
11 Anti-Arrhythmia Agents Phase 4
12 Antihypertensive Agents Phase 4
13 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
14 Vasodilator Agents Phase 4,Phase 2
15 Cholinergic Agents Phase 4,Not Applicable
16 Cholinergic Antagonists Phase 4
17 Muscarinic Antagonists Phase 4
18 Neurotransmitter Uptake Inhibitors Phase 4
19 Serotonin Agents Phase 4
20 Serotonin Uptake Inhibitors Phase 4
21 Analgesics Phase 4,Phase 3,Not Applicable
22 Analgesics, Non-Narcotic Phase 4,Phase 3
23 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2
24 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
25 Antipyretics Phase 4
26 beta-Lactams Phase 4
27 Lactams Phase 4
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
29 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
30 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
31 Hormones Phase 4,Phase 3,Phase 1,Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
33 Antiemetics Phase 4,Phase 3
34 Anti-Inflammatory Agents Phase 4,Phase 3
35 Antineoplastic Agents, Hormonal Phase 4,Phase 3
36 BB 1101 Phase 4,Phase 3
37 Dexamethasone acetate Phase 4,Phase 3 1177-87-3
38 Gastrointestinal Agents Phase 4,Phase 3
39 glucocorticoids Phase 4,Phase 3
40 HIV Protease Inhibitors Phase 4,Phase 3
41
protease inhibitors Phase 4,Phase 3
42
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
43
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
44
Rifampicin Approved Phase 3 13292-46-1 5458213 5381226
45
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
46
Everolimus Approved Phase 3 159351-69-6 6442177
47
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
48
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
49
Cisplatin Approved Phase 2, Phase 3,Not Applicable 15663-27-1 84093 441203 2767
50
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 50-18-0, 6055-19-2 2907

Interventional clinical trials:

(show top 50) (show all 190)
# Name Status NCT ID Phase Drugs
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 ShuntCheck Versus Radionuclide in Evaluating Shunt Function in Symptomatic NPH Patients Completed NCT01323764 Phase 4
4 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
5 NIMI-NICU: Non Invasive Monitoring of the Intracranial Pressure - NeuroIntensive Care Unit Completed NCT01685476 Phase 4
6 Efficacy and Safety of Selective Serotonin Reuptake Inhibitor (SSRI) in Overactive Bladder Patients Completed NCT00902421 Phase 4 Selective serotonin reuptake inhibitors;Antimuscarinics
7 Slow Initial β-lactam Infusion With High-dose Paracetamol to Improve the Outcomes of Childhood Bacterial Meningitis Completed NCT01540838 Phase 4 Infusion with paracetamol;Bolus without paracetamol
8 Dexmedetomidine and Propofol for Pediatric MRI Sedation Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
9 Clinical, Pharmacological and Molecular Effects of IV and Oral Acetaminophen in Adults With aSAH Recruiting NCT02549716 Phase 4 IV acetaminophen;Oral acetaminophen;Oral placebo;IV placebo
10 The Relationships Between Gene Polymorphisms of LTA4H and Dexamethasone Treatment for Tuberculous Meningitis Not yet recruiting NCT02588196 Phase 4 Dexamethasone acetate
11 Effect of Intrathoracic Pressure Regulation on Traumatic Brain Injury Terminated NCT01824589 Phase 4
12 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]
13 ShuntCheck Accuracy in Detecting Shunt Obstruction Normal Pressure Hydrocephalus (NPH) Patients Withdrawn NCT00793416 Phase 4
14 Multi-Center Study of ShuntCheck Withdrawn NCT00788385 Phase 4
15 Clinical Value of Noninvasive Intracranial Pressure Measurement Unknown status NCT02130219 Phase 2, Phase 3
16 A Randomised Controlled Trial of Lumbar Drainage to Treat Communicating Hydrocephalus After Severe Intraventricular Hemorrhage Completed NCT01041950 Phase 2, Phase 3
17 PET Imaging of Brain Amyloid in Normal Pressure Hydrocephalus Completed NCT01053312 Phase 3 [18F] Flutemetamol
18 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
19 Impact of Ventricular Catheter Used With Antimicrobial Agents on Patients With a Ventricular Catheter Completed NCT00286104 Phase 3
20 Intraoral 30% Glucose Effect In Newborns Completed NCT02325583 Phase 3 30% Glucose;Midazolam
21 Premature Infants in Need of Transfusion (PINT) Completed NCT00182390 Phase 3
22 Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) Completed NCT00789828 Phase 3 Everolimus;Placebo
23 EARLYdrain - Outcome After Early Lumbar CSF-drainage in Aneurysmal SAH Completed NCT01258257 Phase 3
24 High Versus Low Dose of Caffeine for Apnea of Prematurity Completed NCT02103777 Phase 3 Caffeine citrate
25 Caffeine for Apnea of Prematurity (CAP) Completed NCT00182312 Phase 3 Caffeine citrate injection
26 The CSF Shunt Entry Site Trial Recruiting NCT02425761 Phase 3
27 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Recruiting NCT02651337 Phase 3
28 Ultra-early Tranexamic Acid After Subarachnoid Hemorrhage. Recruiting NCT02684812 Phase 2, Phase 3 Tranexamic Acid
29 Leukotriene A4 Hydrolase Stratified Trial of Adjunctive Corticosteroids for HIV-uninfected Adults With Tuberculous Meningitis Recruiting NCT03100786 Phase 3 Dexamethasone
30 Erythropoietin for the Repair of Cerebral Injury in Very Preterm Infants Recruiting NCT02076373 Phase 3 recombinant human Erythropoietin;Placebo
31 International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
32 Randomized Controlled Trial of Shunt vs ETV/CPC for PIH in Ugandan Infants Active, not recruiting NCT01936272 Phase 3
33 Preterm Erythropoietin Neuroprotection Trial (PENUT Trial) Active, not recruiting NCT01378273 Phase 3 Epo
34 Transfusion of Prematures Trial Active, not recruiting NCT01702805 Phase 3
35 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Active, not recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
36 Follow up Study to Assess Long Term Safety and Outcomes in Infants and Children Born to Mothers Participating in Retosiban Treatment Studies Active, not recruiting NCT02292784 Phase 3 Retosiban;Atosiban;Placebo
37 Neuroprotectant for Hypertensive Intracerebral Hemorrhage Not yet recruiting NCT03546283 Phase 3 Placebos;Cattle Encephalon Glycoside and Ignotin
38 Isoflurane-induced Neuroinflammation in Children With Hydrocephalus Terminated NCT02512809 Phase 3 Isoflurane;Dexmedetomidine
39 Positron Emission Tomography Imaging of Brain Amyloid in Normal Pressure Hydrocephalus Terminated NCT01092546 Phase 3 [18F]Flutemetamol
40 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
41 The Tilburg Vasospasm Study Terminated NCT01407614 Phase 2, Phase 3
42 Radiation Therapy and Stereotactic Radiosurgery With or Without Temozolomide or Erlotinib in Treating Patients With Brain Metastases Secondary to Non-Small Cell Lung Cancer Terminated NCT00096265 Phase 3 Erlotinib Hydrochloride;Temozolomide
43 A Phase III Efficacy and Safety Study of Intravenous Retosiban Versus Placebo for Women in Spontaneous Preterm Labor Terminated NCT02377466 Phase 3 Retosiban IV infusion;Placebo IV infusion
44 Intraventricular Tissue Plasminogen Activator (tPA) in the Management of Aneurysmal Subarachnoid Hemorrhage Unknown status NCT01098890 Phase 2 Tissue Plasminogen Activator;Placebo
45 Study to Evaluate Efficacy of Shunt Operation for Idiopathic Normal Pressure Hydrocephalus Completed NCT00221091 Phase 2
46 Overcoming Membrane Transporters to Improve CNS Drug Delivery - Improving Brain Antioxidants After Traumatic Brain Injury Completed NCT01322009 Phase 1, Phase 2 Probenecid and N-acetyl cysteine;Placebo
47 Cilengitide in Treating Younger Patients With Recurrent or Progressive High-Grade Glioma That Has Not Responded to Standard Therapy Completed NCT00679354 Phase 2 cilengitide
48 Determination of Levels of Micafungin in Neonates Suffering From Systemic Candidiasis and/or Candida Meningitis Completed NCT03421002 Phase 2 Micafungin
49 High-Dose Fluconazole for the Treatment of Cryptococcal Meningitis in HIV-Infected Individuals Completed NCT00885703 Phase 1, Phase 2 Fluconazole;Amphotericin B
50 Study of Vinblastine in Combination With Nilotinib in Children, Adolescents, and Young Adults Recruiting NCT01887522 Phase 2 Vinblastine + Nilotinib;Vinblastine

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 CCDC88C

Anatomical Context for Hydrocephalus

MalaCards organs/tissues related to Hydrocephalus:

41
Brain, Testes, Eye, Spinal Cord, Pituitary, Bone, Liver
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 2526)
# Title Authors Year
1
Intraventricular haemorrhage and obstructive hydrocephalus in a term neonate: an uncommon presentation of haemophilia B. ( 29848541 )
2018
2
Analysis of Denver Neurodevelopmental Screening Test Results of Myelomeningocele, Hydrocephalus, and Microcephaly Patients. ( 29899768 )
2018
3
Spontaneous Ventriculostomy into the Subdural Space in a Neonate with Congenital Hydrocephalus. ( 29627843 )
2018
4
A sustained systemic inflammatory response syndrome is associated with shunt-dependent hydrocephalus after aneurysmal subarachnoid hemorrhage. ( 29957109 )
2018
5
Congenital achiasma and see-saw nystagmus in VATER syndrome association with hydrocephalus. ( 29483009 )
2018
6
Comparative analysis of cerebrospinal fluid metabolites in Alzheimer's disease and idiopathic normal pressure hydrocephalus in a Japanese cohort. ( 29387418 )
2018
7
Relationship between gait parameters and MR imaging in idiopathic normal pressure hydrocephalus patients after shunt surgery. ( 29413784 )
2018
8
Comparison of hydrocephalus metrics between infants successfully treated with endoscopic third ventriculostomy with choroid plexus cauterization and those treated with a ventriculoperitoneal shunt: a multicenter matched-cohort analysis. ( 29393809 )
2018
9
Association Between Possible Osteoporosis and Shunt-Dependent Hydrocephalus After Subarachnoid Hemorrhage. ( 29946014 )
2018
10
Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. ( 29948137 )
2018
11
Optic nerve sheath diameter based on preoperative brain computed tomography and intracranial pressure are positively correlated in adults with hydrocephalus. ( 29433056 )
2018
12
A case of a mobile choroid plexus cyst presenting with different types of obstructive hydrocephalus. ( 29541488 )
2018
13
The effect and evolution of patient selection on outcomes in endoscopic third ventriculostomy for hydrocephalus: A large-scale review of the literature. ( 29406903 )
2018
14
The subjective experience of patients undergoing shunt surgery for idiopathic normal pressure hydrocephalus. ( 29981467 )
2018
15
Computerized gait analysis with inertial sensor in the management of idiopathic normal pressure hydrocephalus. ( 29962192 )
2018
16
Shunt Intervention for Possible Idiopathic Normal Pressure Hydrocephalus Improves Patient Outcomes: A Nationwide Hospital-Based Survey in Japan. ( 29942280 )
2018
17
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus. ( 29451990 )
2018
18
Hydrocephalus associated to congenital Zika syndrome: does shunting improve clinical features? ( 29086073 )
2018
19
Congenital Hydrocephalus: GA^mez-LA^pez-HernA!ndez syndrome. An underdiagnosed Syndrome. A clinical case. ( 29664509 )
2018
20
Management of Obstructive Hydrocephalus in Pregnant Patient. ( 29492141 )
2018
21
Obstructive hydrocephalus and facial nerve palsy secondary to vertebrobasilar dolichoectasia: Case Report. ( 29629227 )
2018
22
Aquaporin 4 Silencing Aggravates Hydrocephalus Induced by Injection of Autologous Blood in Rats. ( 29921834 )
2018
23
Postural control before and after cerebrospinal fluid shunt surgery in idiopathic normal pressure hydrocephalus. ( 29975875 )
2018
24
Predictors Associated With Post-Traumatic Hydrocephalus in Patients With Head Injury Undergoing Unilateral Decompressive Craniectomy. ( 29867743 )
2018
25
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus. ( 29499638 )
2018
26
Posterior fossa metastasis-associated obstructive hydrocephalus in adult patients: literature review and practical considerations from the Neuro-Oncology Club of the French Society of Neurosurgery. ( 29935321 )
2018
27
Congenital aqueduct stenosis: Progressive brain findings in utero to birth in the presence of severe hydrocephalus. ( 29927492 )
2018
28
Incidence, Comorbidities, and Mortality in Idiopathic Normal PressureA Hydrocephalus. ( 29374607 )
2018
29
Hydrocephalus in children under the age of five from diagnosis to short-/medium-/long-term progression: a retrospective review of 142 children. ( 29435827 )
2018
30
Spastic Quadriparesis and Communicating Hydrocephalus as Late Sequel of Rosai-Dorfman Disease: A Case Report and Review of Literature. ( 29682050 )
2018
31
Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus. ( 29959317 )
2018
32
Arrested Hydrocephalus in Childhood: Case Series and Review of the Literature. ( 29933461 )
2018
33
Chiari Malformation and Hydrocephalus Masking Neurocysticercosis. ( 29545224 )
2018
34
Endoscopic third ventriculostomy (ETV) and ventriculoperitoneal shunt (VPS) in non-communicating hydrocephalus (NCH): comparison of outcome profiles in Nigerian children. ( 29860541 )
2018
35
FSI simulation of CSF hydrodynamic changes in a large population of non-communicating hydrocephalus patients during treatment process with regard to their clinical symptoms. ( 29708982 )
2018
36
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. ( 29907796 )
2018
37
Lyme Meningoencephalitis Masquerading as Normal Pressure Hydrocephalus. ( 29872598 )
2018
38
Corrigendum: Dusp16 Deficiency Causes Congenital Obstructive Hydrocephalus and Brain Overgrowth by Expansion of the Neural Progenitor Pool. ( 29417959 )
2018
39
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. ( 29541808 )
2018
40
Acute Communicating Hydrocephalus as Spinal Cord Surgery Complication in Patient with Lumbar Lipomyelocele. ( 29678699 )
2018
41
Reply to the letter by Joob and Wiwanitkit regarding our article on congenital Zika syndrome and hydrocephalus. ( 29209886 )
2018
42
Obstructive hydrocephalus secondary to odontoid pannus: case report and review of literature. ( 29644037 )
2018
43
Amenorrhoea and reversible infertility due to obstructive hydrocephalus: literature review and case report. ( 29430977 )
2018
44
Chronic Meningitis and Hydrocephalus due to <i>Sporothrix brasiliensis</i> in Immunocompetent Adults: A Challenging Entity. ( 29977951 )
2018
45
Phase-contrast and three-dimensional driven equilibrium (3D-DRIVE) sequences in the assessment of paediatric obstructive hydrocephalus. ( 29850941 )
2018
46
Progression of Alzheimer's Disease-Related Pathology and Cell Counts in a Patient with Idiopathic Normal Pressure Hydrocephalus. ( 29376849 )
2018
47
Trends in the prevalence of congenital hydrocephalus in 14 cities in Liaoning province, China from 2006 to 2015 in a population-based birth defect registry from the Liaoning Women and Children's Health Hospital. ( 29581857 )
2018
48
Hydrocephalus associated to congenital Zika syndrome and shunting. ( 29143115 )
2018
49
Treating Hydrocephalus with Retrograde VentriculoSinus Shunt Prospective Clinical Study. ( 29953953 )
2018
50
Obstructive hydrocephalus caused by colloid cyst presenting as a schizophrenia-like psychosis. ( 29884711 )
2018

Variations for Hydrocephalus

ClinVar genetic disease variations for Hydrocephalus:

6
(show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh37 Chromosome 10, 123276877: 123276877
2 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh38 Chromosome 10, 121517363: 121517363
3 CCDC88C NM_001080414.3(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 GRCh37 Chromosome 14, 91744265: 91744265
4 CCDC88C NM_001080414.3(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 GRCh38 Chromosome 14, 91277921: 91277921
5 CCDC88C NM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 GRCh37 Chromosome 14, 91804465: 91804465
6 CCDC88C NM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 GRCh38 Chromosome 14, 91338121: 91338121
7 CCDC88C NM_001080414.3(CCDC88C): c.5841_5842delAG (p.Glu1949Glyfs) deletion Pathogenic rs387907321 GRCh37 Chromosome 14, 91739214: 91739215
8 CCDC88C NM_001080414.3(CCDC88C): c.5841_5842delAG (p.Glu1949Glyfs) deletion Pathogenic rs387907321 GRCh38 Chromosome 14, 91272870: 91272871
9 NID1 NM_002508.2(NID1): c.3385+1G> A single nucleotide variant Likely pathogenic rs730882225 GRCh38 Chromosome 1, 235980495: 235980495
10 NID1 NM_002508.2(NID1): c.3385+1G> A single nucleotide variant Likely pathogenic rs730882225 GRCh37 Chromosome 1, 236143795: 236143795
11 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
12 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
13 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh38 Chromosome 17, 2039760: 2039760
14 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh37 Chromosome 17, 1943054: 1943054
15 TMEM92 NM_001168215.1(TMEM92): c.95+3A> G single nucleotide variant Likely pathogenic rs730882247 GRCh38 Chromosome 17, 50277743: 50277743
16 TMEM92 NM_001168215.1(TMEM92): c.95+3A> G single nucleotide variant Likely pathogenic rs730882247 GRCh37 Chromosome 17, 48355104: 48355104
17 ARFGEF2 NM_006420.2(ARFGEF2): c.656dupC (p.Val220Cysfs) duplication Pathogenic rs730882200 GRCh38 Chromosome 20, 48953608: 48953608
18 ARFGEF2 NM_006420.2(ARFGEF2): c.656dupC (p.Val220Cysfs) duplication Pathogenic rs730882200 GRCh37 Chromosome 20, 47570145: 47570145
19 46;XX;inv(2)(p11q13)dn inversion Uncertain significance
20 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
21 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
22 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571
23 DOCK6 NM_020812.3(DOCK6): c.934C> T (p.His312Tyr) single nucleotide variant Uncertain significance rs370838036 GRCh37 Chromosome 19, 11356328: 11356328
24 DOCK6 NM_020812.3(DOCK6): c.934C> T (p.His312Tyr) single nucleotide variant Uncertain significance rs370838036 GRCh38 Chromosome 19, 11245652: 11245652
25 CCDC88C NM_001080414.3(CCDC88C): c.1050+9C> T single nucleotide variant Likely benign rs372411289 GRCh37 Chromosome 14, 91804340: 91804340
26 CCDC88C NM_001080414.3(CCDC88C): c.1050+9C> T single nucleotide variant Likely benign rs372411289 GRCh38 Chromosome 14, 91337996: 91337996
27 MPDZ NM_001261406.1(MPDZ): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs758473798 GRCh38 Chromosome 9, 13186350: 13186350
28 MPDZ NM_001261406.1(MPDZ): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs758473798 GRCh37 Chromosome 9, 13186349: 13186349
29 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
30 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
31 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775

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
12.8 AKT3 CCND2 FGFR2 FGFR3 PIK3R2 PTEN
2
Show member pathways
12.74 AKT3 FGFR2 FGFR3 PIK3R2 PTEN
3 12.57 AKT3 CCND2 FGFR2 FGFR3 PIK3R2 PTEN
4
Show member pathways
12.56 AKT3 FGFR2 FGFR3 PIK3R2 PTEN
5
Show member pathways
12.4 AKT3 CCND2 FGFR2 FGFR3 PIK3R2 PTEN
6 12.38 CCND2 FGFR3 PIK3R2 PTEN
7
Show member pathways
12.34 AKT3 CCND2 PIK3R2 PTEN
8
Show member pathways
12.3 AKT3 FGFR2 FGFR3 PIK3R2
9
Show member pathways
12.28 AKT3 FGFR2 FGFR3 PIK3R2
10
Show member pathways
12.26 AKT3 FGFR2 FGFR3 PIK3R2 PTEN
11
Show member pathways
12.06 AKT3 FGFR2 FGFR3 PTEN
12 11.98 AKT3 CCND2 PIK3R2 PTEN
13
Show member pathways
11.91 CCND2 FGFR2 FGFR3
14
Show member pathways
11.9 AKT3 CCND2 PIK3R2 PTEN
15 11.84 AKT3 PIK3R2 PTEN
16
Show member pathways
11.83 AKT3 CCND2 PIK3R2 PTEN
17
Show member pathways
11.82 AKT3 PIK3R2 PTEN
18 11.72 AKT3 PIK3R2 PTEN
19 11.71 AKT3 PIK3R2 PTEN
20 11.71 AKT3 FGFR2 FGFR3 PIK3R2 PTEN
21 11.68 AKT3 CCND2 PIK3R2 PTEN
22 11.56 AKT3 AP1S2 PIK3R2
23 11.5 AKT3 FGFR2 FGFR3 PIK3R2 ZIC3
24 10.83 AKT3 FGFR2 FGFR3 PIK3R2 PTEN

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 MPDZ PTEN

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 FGFR2 FGFR3 FOXC1 HYDIN L1CAM STK36
2 phosphatidylinositol phosphorylation GO:0046854 9.61 FGFR2 FGFR3 PIK3R2
3 mesenchymal cell differentiation GO:0048762 9.37 FGFR2 FOXC1
4 positive regulation of phospholipase activity GO:0010518 9.32 FGFR2 FGFR3
5 synapse maturation GO:0060074 9.26 NFIA PTEN
6 endochondral bone growth GO:0003416 9.16 FGFR2 FGFR3
7 lacrimal gland development GO:0032808 8.96 FGFR2 FOXC1
8 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.8 FGFR2 FGFR3 PIK3R2

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 FGFR2 FGFR3 PIK3R2
2 fibroblast growth factor-activated receptor activity GO:0005007 8.96 FGFR2 FGFR3
3 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGFR2 FGFR3 PIK3R2

Sources for Hydrocephalus

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
Content
Loading form....