MCID: HYD006
MIFTS: 68

Hydrocephalus

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

Aliases & Classifications for Hydrocephalus

MalaCards integrated aliases for Hydrocephalus:

Name: Hydrocephalus 37 12 72 49 50 28 51 40 41 14 69
Congenital Hydrocephalus 49 55 36 51
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 69
Hydrocephalus, Nonsyndromic, Autosomal Recessive 12
Hydrocephalus Adverse Event 69
Hydrocephalus, X-Linked 12
Ventriculomegaly 49
Hydrocephaly 49

Characteristics:

Orphanet epidemiological data:

55
congenital hydrocephalus
Prevalence: 6-9/10000 (United States),1-5/10000 (Europe);

Classifications:



External Ids:

Disease Ontology 12 DOID:10908
ICD10 32 G91 G91.9 Q03
MeSH 41 D006849
NCIt 46 C3111
Orphanet 55 ORPHA2185
UMLS via Orphanet 70 C0020256
ICD10 via Orphanet 33 Q03.0 Q03.1 Q03.8 more
KEGG 36 H01677

Summaries for Hydrocephalus

NIH Rare Diseases : 49 Congenitalhydrocephalusis when a child is born with an excessive accumulation of cerebrospinal fluid (CSF) in the brain. CSF is a clear fluid that surrounds the brain and spinal cord. This excess fluid causes an abnormal widening of spaces in the brain called ventricles (ventriculomegalia) and can create a harmful pressure on brain tissue. Symptoms of hydrocephalus vary and may include an unusually large head with thin, transparent scalp, bulging forehead with increased spaces between the bones of the skull (fontanelles), and a downward gaze. Other symptoms may include seizures, abnormal reflexes, slow heartbeat and respiratory rate, headaches, vomiting, irritability, weakness, and visual problems.  It is caused by genetic and non-genetic factors. The most common cause of congenital hydrocephalus are variations (mutations) in the  L1CAM gene, where there is a narrow passageway between the third and fourth ventricles (aqueductal stenosis). Other causes include mutations in many other genes, brain and/or spinal cord malformations, infections, bleeding inside the cavities of the brain (intraventricular hemorrhage), trauma, exposition to certain drugs (teratogens) or a congenital tumor of the brain. Congenital hydrocephalus can be an isolated malformation or be part of a syndrome where there are other associated malformations. It is most often treated by surgically inserting a shunt system to transport the excess CSF and allow for re-absorption. If left untreated, blindness and continuing mental deterioration may occur. Hydrocephalus may be subdivided according to the particular defect that exists in the brain and whether the cerebrospinal fluid pressure is high or normal: Communicating hydrocephalus is when there is no blockage (obstruction) in the ventricules but the fluid is not absorbed readily, or there is too much fluid  to be absorbed.  Noncommunicating (obstructive) hydrocephalus is when there is a blockage of the CSF causing widening (dilation) of the pathways that are located upstream of the block, resulting in an increased  pressure inside the brain.  There are also 2 other forms of hydrocephalus that usually affect only adults:Normal-pressure hydrocephalus is where the ventricules are expanded but the pressure inside the nervous system is normal.  Hydrocephalus ex-vacuo occurs when stroke or traumatic injury cause damage to the brain and the brain tissue may shrink.  Hydrocephalus may also be classified in congenital or acquired. Acquired hydrocephalus develops at the time of birth or at some point afterward and may be caused by injury or disease. Last updated: 1/30/2018

MalaCards based summary : Hydrocephalus, also known as congenital hydrocephalus, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and hydrocephalus due to congenital stenosis of aqueduct of sylvius, and has symptoms including sleeplessness, vertigo/dizziness and chronic pain. An important gene associated with Hydrocephalus is CCDC88C (Coiled-Coil Domain Containing 88C), and among its related pathways/superpathways are Axon guidance and Cell adhesion molecules (CAMs). The drugs Propranolol and Citalopram 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

MedlinePlus : 40 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

NINDS : 50 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.

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 : 72 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
Hydrocephalus Autosomal Recessive

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

(show top 50) (show all 612)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 34.3 AKT3 CCND2 PIK3R2
2 hydrocephalus due to congenital stenosis of aqueduct of sylvius 33.5 L1CAM NES
3 hydrocephalus, nonsyndromic, autosomal recessive 1 32.9 ALDH7A1 ATP1A3 CCDC88C
4 hydrocephalus, nonsyndromic, autosomal recessive 2 32.8 ALDH7A1 ATP1A3 MPDZ
5 vacterl association with hydrocephaly, x-linked 32.4 FANCB ZIC3
6 megalencephaly 30.6 AKT3 CCND2 PIK3R2
7 hydrocephalus, normal-pressure 12.5
8 ventriculomegaly with cystic kidney disease 12.4
9 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.4
10 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.3
11 vacterl association, x-linked, with or without hydrocephalus 12.2
12 hydrocephalus, endocardial fibroelastosis, and cataracts 12.2
13 vacterl association with hydrocephalus 12.2
14 communicating hydrocephalus 12.2
15 obstructive hydrocephalus 12.1
16 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.1
17 hydrocephalus with stenosis of the aqueduct of sylvius 12.1
18 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.1
19 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.0
20 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.0
21 congenital non-communicating hydrocephalus 12.0
22 hydrocephalus-cleft palate-joint contractures syndrome 12.0
23 congenital communicating hydrocephalus 12.0
24 hydrocephalus autosomal recessive 11.9
25 masa syndrome 11.9
26 ventriculomegaly with defects of the radius and kidney 11.9
27 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 11.9
28 isolated dandy-walker malformation without hydrocephalus 11.9
29 isolated dandy-walker malformation with hydrocephalus 11.9
30 vacterl with hydrocephalus 11.9
31 hydrocephalus with associated malformations 11.8
32 hydrocephalus, autosomal dominant 11.8
33 thoracic dysplasia-hydrocephalus syndrome 11.8
34 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.8
35 hydrocephalus obesity hypogonadism 11.8
36 hydrocephalus with cerebellar agenesis 11.8
37 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 11.7
38 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.7
39 amelia cleft lip palate hydrocephalus iris coloboma 11.7
40 hydrocephalus craniosynostosis bifid nose 11.7
41 hydrocephalus growth retardation skeletal anomalies 11.7
42 hydrocephalus skeletal anomalies 11.7
43 tibial aplasia ectrodactyly hydrocephalus 11.7
44 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.7
45 walker-warburg syndrome 11.6
46 dandy-walker complex 11.6
47 beemer ertbruggen syndrome 11.6
48 chudley-mccullough syndrome 11.6
49 cole-carpenter syndrome 1 11.5
50 myelomeningocele 11.5

Graphical network of the top 20 diseases related to Hydrocephalus:



Diseases related to Hydrocephalus

Symptoms & Phenotypes for Hydrocephalus

Human phenotypes related to Hydrocephalus:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000238

UMLS symptoms related to Hydrocephalus:


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

MGI Mouse Phenotypes related to Hydrocephalus:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 MPDZ NFIA POMGNT1 STK36 ZIC3 AKT3
2 growth/size/body region MP:0005378 10.28 AKT3 AP1S2 ATP1A3 FANCB FGFR3 FLNA
3 cellular MP:0005384 10.27 NFIA POMGNT1 STK36 ZIC3 AKT3 AP1S2
4 homeostasis/metabolism MP:0005376 10.15 FANCB FGFR3 FLNA FOXC1 MAPT PIK3R2
5 cardiovascular system MP:0005385 10.13 AKT3 CCND2 FLNA FOXC1 HYDIN MAPT
6 craniofacial MP:0005382 10.13 FGFR3 FLNA FOXC1 HYDIN L1CAM MAPT
7 mortality/aging MP:0010768 10.13 AKT3 ATP1A3 CCND2 FGFR3 FLNA FOXC1
8 nervous system MP:0003631 10.1 FLNA FOXC1 HYDIN L1CAM MAPT NFIA
9 reproductive system MP:0005389 9.93 NFIA POMGNT1 STK36 ZIC3 AKT3 CCND2
10 respiratory system MP:0005388 9.5 ATP1A3 FGFR3 FLNA FOXC1 HYDIN STK36
11 vision/eye MP:0005391 9.23 CCND2 FGFR3 FLNA FOXC1 L1CAM MAPT

Drugs & Therapeutics for Hydrocephalus

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

(show top 50) (show all 108)
# 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 Adrenergic Agents Phase 4,Phase 3,Phase 1,Phase 2
4 Adrenergic Antagonists Phase 4
5 Adrenergic beta-Antagonists Phase 4
6 Anti-Arrhythmia Agents Phase 4
7 Antihypertensive Agents Phase 4
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
9 Vasodilator Agents Phase 4
10 Cholinergic Agents Phase 4
11 Cholinergic Antagonists Phase 4
12 Muscarinic Antagonists Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14
Serotonin Phase 4 50-67-9 5202
15 Serotonin Agents Phase 4
16 Serotonin Uptake Inhibitors Phase 4
17
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
18
Rifampin Approved Phase 3 13292-46-1 5381226 5458213
19
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
20
Tranexamic Acid Approved Phase 2, Phase 3 1197-18-8 5526
21
Dexmedetomidine Approved, Vet_approved Phase 3 76631-46-4, 113775-47-6 5311068 56032 68602
22
Isoflurane Approved, Vet_approved Phase 3 26675-46-7 3763
23
Remifentanil Approved Phase 3 132875-61-7 60815
24
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
25
Caffeine Approved, Nutraceutical Phase 3 58-08-2 2519
26
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
27 Anesthetics Phase 2, Phase 3
28 Anti-Infective Agents, Local Phase 2, Phase 3
29 Pharmaceutical Solutions Phase 2, Phase 3
30 Anti-Bacterial Agents Phase 3
31 Antibiotics, Antitubercular Phase 3
32 Anti-Infective Agents Phase 3,Phase 2
33 Antitubercular Agents Phase 3
34 Clindamycin palmitate Phase 3
35 Clindamycin phosphate Phase 3
36 Adjuvants, Anesthesia Phase 3
37 Anesthetics, General Phase 3
38 Anesthetics, Intravenous Phase 3
39 Anti-Anxiety Agents Phase 3
40 Central Nervous System Depressants Phase 3
41 GABA Agents Phase 3
42 GABA Modulators Phase 3
43 Hypnotics and Sedatives Phase 3
44 Psychotropic Drugs Phase 3
45 Tranquilizing Agents Phase 3
46 Tin Fluorides Phase 3
47 Caffeine citrate Phase 3
48 Central Nervous System Stimulants Phase 3
49 Phosphodiesterase Inhibitors Phase 3
50 Purinergic P1 Receptor Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 157)

# 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 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 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
7 NIMI-NICU: Non Invasive Monitoring of the Intracranial Pressure - NeuroIntensive Care Unit Completed NCT01685476 Phase 4
8 Efficacy and Safety of Selective Serotonin Reuptake Inhibitor (SSRI) in Overactive Bladder Patients Completed NCT00902421 Phase 4 Selective serotonin reuptake inhibitors;Antimuscarinics
9 Effect of Intrathoracic Pressure Regulation on Traumatic Brain Injury Terminated NCT01824589 Phase 4
10 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]
11 ShuntCheck Accuracy in Detecting Shunt Obstruction Normal Pressure Hydrocephalus (NPH) Patients Withdrawn NCT00793416 Phase 4
12 Multi-Center Study of ShuntCheck Withdrawn NCT00788385 Phase 4
13 Clinical Value of Noninvasive Intracranial Pressure Measurement Unknown status NCT02130219 Phase 2, Phase 3
14 A Randomised Controlled Trial of Lumbar Drainage to Treat Communicating Hydrocephalus After Severe Intraventricular Hemorrhage Completed NCT01041950 Phase 2, Phase 3
15 PET Imaging of Brain Amyloid in Normal Pressure Hydrocephalus Completed NCT01053312 Phase 3 [18F] Flutemetamol
16 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
17 Impact of Ventricular Catheter Used With Antimicrobial Agents on Patients With a Ventricular Catheter Completed NCT00286104 Phase 3
18 Intraoral 30% Glucose Effect In Newborns Completed NCT02325583 Phase 3 30% Glucose;Midazolam
19 Premature Infants in Need of Transfusion (PINT) Completed NCT00182390 Phase 3
20 EARLYdrain - Outcome After Early Lumbar CSF-drainage in Aneurysmal SAH Completed NCT01258257 Phase 3
21 High Versus Low Dose of Caffeine for Apnea of Prematurity Completed NCT02103777 Phase 3 Caffeine citrate
22 Caffeine for Apnea of Prematurity (CAP) Completed NCT00182312 Phase 3 Caffeine citrate injection
23 The CSF Shunt Entry Site Trial Recruiting NCT02425761 Phase 3
24 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Recruiting NCT02651337 Phase 3
25 Ultra-early Tranexamic Acid After Subarachnoid Hemorrhage. Recruiting NCT02684812 Phase 2, Phase 3 Tranexamic Acid
26 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
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 Epo
29 Transfusion of Prematures Trial Active, not recruiting NCT01702805 Phase 3
30 ETV Versus Shunt Surgery in Normal Pressure Hydrocephalus Terminated NCT00946127 Phase 3
31 Isoflurane-induced Neuroinflammation in Children With Hydrocephalus Terminated NCT02512809 Phase 3 Isoflurane;Dexmedetomidine
32 Positron Emission Tomography Imaging of Brain Amyloid in Normal Pressure Hydrocephalus Terminated NCT01092546 Phase 3 [18F]Flutemetamol
33 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
34 Intraventricular Tissue Plasminogen Activator (tPA) in the Management of Aneurysmal Subarachnoid Hemorrhage Unknown status NCT01098890 Phase 2 Tissue Plasminogen Activator;Placebo
35 Study to Evaluate Efficacy of Shunt Operation for Idiopathic Normal Pressure Hydrocephalus Completed NCT00221091 Phase 2
36 Determination of Levels of Micafungin in Neonates Suffering From Systemic Candidiasis and/or Candida Meningitis Recruiting NCT03421002 Phase 2 Micafungin
37 A Study Comparing Two Treatments for Infants With Hydrocephalus Active, not recruiting NCT00652470 Phase 2
38 WEANING-Study: "Weaning by Early Versus lAte Tracheostomy iN supratentorIal iNtracerebral Bleedings Terminated NCT01176214 Phase 2
39 Dobutamine in the Treatment of Haemodynamic Insufficiency in the Immediate Postnatal Period Terminated NCT03311178 Phase 1, Phase 2 Dobutamine
40 Effect of Intraventricular tPA Following Aneurysmal Subarachnoid Hemorrhage Withdrawn NCT01878136 Phase 1, Phase 2 Tissue Plasminogen Activator
41 Phase 1 Clinical Trial of PNEUMOSTEM® Treatment in Premature Infants With Intraventricular Hemorrhage Completed NCT02274428 Phase 1 pneumostem
42 Treatment of Subarachnoid Hemorrhage With Human Albumin Terminated NCT01747408 Phase 1 Human Albumin
43 Magnetic Resonance Elastography in Hydrocephalus Unknown status NCT02230124
44 Multimodal Investigation in the Diagnosis and Treatment of Chronic Adult Hydrocephalus Unknown status NCT02278848
45 Computerised Testing of Cognitive Response to Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT01618500
46 European Study on Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT00874198
47 Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasound Before and After Drainage of Cerebrospinal Fluid in Patient With Hydrocephalus Unknown status NCT01863329
48 Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasonography Before and After Drainage of Cerebrospinal Fluid in Pediatric Patient With Hydrocephalus Unknown status NCT01865149
49 Comparison of Optic Nerve Sheath Diameter Measured by Ultrasonography Before and After Ventriculoperitoneal Shunt Surgery in Adult Patients With Hydrocephalus Unknown status NCT02663947
50 CRT ShuntCheck "Fit & Function" Study Unknown status NCT02067364

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 28 CCDC88C

Anatomical Context for Hydrocephalus

MalaCards organs/tissues related to Hydrocephalus:

38
Brain, Testes, Eye, Spinal Cord, Bone, Pituitary, Pineal
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 2378)
# Title Authors Year
1
Hydrocephalus in children under the age of five from diagnosis to short-/medium-/long-term progression: a retrospective review of 142 children. ( 29435827 )
2018
2
Corrigendum: Dusp16 Deficiency Causes Congenital Obstructive Hydrocephalus and Brain Overgrowth by Expansion of the Neural Progenitor Pool. ( 29417959 )
2018
3
Endoscopic third ventriculostomy for hydrocephalus in osteopetrosis: a case report and review of the literature. ( 29327079 )
2018
4
Comparative analysis of cerebrospinal fluid metabolites in Alzheimer's disease and idiopathic normal pressure hydrocephalus in a Japanese cohort. ( 29387418 )
2018
5
Unusual location of developmental venous anomaly within fourth ventricle causing obstructive hydrocephalus - A case report. ( 29248318 )
2018
6
Hydrocephalus associated to congenital Zika syndrome and shunting. ( 29143115 )
2018
7
Concurrent Alzheimer's pathology in patients with clinical normal pressure hydrocephalus. ( 29444559 )
2018
8
Reply to the letter by Joob and Wiwanitkit regarding our article on congenital Zika syndrome and hydrocephalus. ( 29209886 )
2018
9
Hydrocephalus associated to congenital Zika syndrome: does shunting improve clinical features? ( 29086073 )
2018
10
Prevalence and trend of isolated and complicated congenital hydrocephalus and preventive effect of folic acid in northern China, 2005-2015. ( 29388147 )
2018
11
Increase in callosal angle and decrease in ventricular volume after shunt surgery in patients with idiopathic normal pressure hydrocephalus. ( 29393749 )
2018
12
Amenorrhoea and reversible infertility due to obstructive hydrocephalus: literature review and case report. ( 29430977 )
2018
13
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus. ( 29451990 )
2018
14
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
15
Ventriculostomy and Risk of Upward Herniation in Patients with Obstructive Hydrocephalus from Posterior Fossa Mass Lesions. ( 29305758 )
2018
16
Changes of cerebrospinal fluid protein concentrations and gait patterns in geriatric normal pressure hydrocephalus patients after ventriculoperitoneal shunting surgery. ( 29408782 )
2018
17
The effect and evolution of patient selection on outcomes in endoscopic third ventriculostomy for hydrocephalus: A large-scale review of the literature. ( 29406903 )
2018
18
Progression of Alzheimer's Disease-Related Pathology and Cell Counts in a Patient with Idiopathic Normal Pressure Hydrocephalus. ( 29376849 )
2018
19
Targeting Germinal Matrix Hemorrhage-Induced Overexpression of Sodium-Coupled Bicarbonate Exchanger Reduces Posthemorrhagic Hydrocephalus Formation in Neonatal Rats. ( 29386206 )
2018
20
Influenza A(H5N1) Virus Infection in a Child With Encephalitis Complicated by Obstructive Hydrocephalus. ( 29020163 )
2018
21
Relationship between gait parameters and MR imaging in idiopathic normal pressure hydrocephalus patients after shunt surgery. ( 29413784 )
2018
22
Optic nerve sheath diameter based on preoperative brain computed tomography and intracranial pressure are positively correlated in adults with hydrocephalus. ( 29433056 )
2018
23
Teaching NeuroImages: Congenital membrane causing unilateral hydrocephalus. ( 29378930 )
2018
24
Hydrocephalus recurrence and intestinal obstruction due to giant CSF pseudocyst. ( 29330586 )
2018
25
Associations of intracranial pressure with brain biopsy, radiological findings, and shunt surgery outcome in patients with suspected idiopathic normal pressure hydrocephalus. ( 27878614 )
2017
26
Vascular hyperpermeability as a hallmark of phacomatoses: is the etiology angiogenesis comparable with mechanisms seen in inflammatory pathways? Part I: historical observations and clinical perspectives on the etiology of increased CSF protein levels, CSF clotting, and communicating hydrocephalus: a comprehensive review. ( 28265819 )
2017
27
Obstructive Hydrocephalus Secondary to Enlarged Virchow-Robin Spaces: A Rare Cause of Pulsatile Tinnitus. ( 28268131 )
2017
28
Cerebrospinal Fluid Amyloid-I^ 42, Total Tau and Phosphorylated Tau are Low in Patients with Normal Pressure Hydrocephalus: Analogies and Differences with Alzheimer's Disease. ( 28826180 )
2017
29
Evaluation of hydrocephalus patients with 3D-SPACE technique using variant FA mode at 3T. ( 28952043 )
2017
30
Medical and socioeconomic predictors of quality of life in myelomeningocele patients with shunted hydrocephalus. ( 29249073 )
2017
31
Clinical Correlation of Abnormal Findings on Magnetic Resonance Elastography in Idiopathic Normal Pressure Hydrocephalus. ( 28063896 )
2017
32
Papilledema in children with hydrocephalus: incidence and associated factors. ( 28387641 )
2017
33
Multiple supratentorial subependymomas causing obstructive hydrocephalus. ( 28578305 )
2017
34
The role of perfusion and diffusion MRI in the assessment of patients affected by probable idiopathic normal pressure hydrocephalus. A cohort-prospective preliminary study. ( 28899431 )
2017
35
Abstracts from Hydrocephalus 2016. ( 28929972 )
2017
36
Letter to the Editor. Hydrodynamic hydrocephalus in nongalenic arteriovenous fistula. ( 28937918 )
2017
37
Ventricular pseudodiverticula from intraparenchymal cerebrospinal fluid dissection secondary to high-grade obstructive hydrocephalus in children: magnetic resonance imaging findings. ( 28644065 )
2017
38
Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know? ( 28593554 )
2017
39
Hydrocephalus and trigeminal neuralgia: exploring the association and management options. ( 28421829 )
2017
40
Can MRI water apparent diffusion coefficient (ADC) value discriminate between idiopathic normal pressure hydrocephalus, Alzheimer's disease and subcortical vascular dementia? ( 28923529 )
2017
41
Cryptococcal meningitis causing obstructive hydrocephalus in a patient on fingolimod. ( 28687690 )
2017
42
Vestibular Schwannoma Presenting with Bilateral Papilledema Without Hydrocephalus: Case Study. ( 29375948 )
2017
43
Diagnosis of Normal-Pressure Hydrocephalus: Use of Traditional Measures in the Era of Volumetric MR Imaging. ( 28498794 )
2017
44
Dolichoectasia of Vertebrobasilar Arteries as a Cause of Hydrocephalus and Ischemic Cerebral Stroke. ( 28915130 )
2017
45
Asymmetric and Upper-Body Parkinsonism in Patients with Idiopathic Normal-Pressure Hydrocephalus. ( 28516741 )
2017
46
Lateral Ventricle to Sylvian Fissure Shunt for Obstructive Hydrocephalus: First Report. ( 28427106 )
2017
47
Cryptococcal Meningitis Masquerading as Normal Pressure Hydrocephalus in an Immune-competent Adult. ( 29302151 )
2017
48
Symptomatic Outcome after Bone-only Suboccipital Decompression in Adult Patients with Chiari Type I Malformations in the Absence of Hydromyelia or Hydrocephalus. ( 28437811 )
2017
49
Olfactory ability in normal pressure hydrocephalus as compared to Alzheimer's disease and healthy controls. ( 28017216 )
2017
50
Pulsatile flow in ventricular catheters for hydrocephalus. ( 28507239 )
2017

Variations for Hydrocephalus

ClinVar genetic disease variations for Hydrocephalus:

6 (show all 21)
# 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 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
17 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh38 Chromosome 17, 2039760: 2039760
18 ARFGEF2 NM_006420.2(ARFGEF2): c.656dupC (p.Val220Cysfs) duplication Pathogenic/Likely pathogenic rs730882200 GRCh38 Chromosome 20, 48953608: 48953608
19 L1CAM NM_000425.4(L1CAM): c.924C> T (p.Gly308=) single nucleotide variant Pathogenic/Likely pathogenic rs797044787 GRCh37 Chromosome X, 153135578: 153135578
20 L1CAM NM_000425.4(L1CAM): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs875989884 GRCh37 Chromosome X, 153132155: 153132155
21 ALDH7A1 NM_001182.4(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 GRCh38 Chromosome 5, 126545020: 126545020

Expression for Hydrocephalus

Search GEO for disease gene expression data for Hydrocephalus.

Pathways for Hydrocephalus

Pathways related to Hydrocephalus according to KEGG:

36
# Name Kegg Source Accession
1 Axon guidance hsa04360
2 Cell adhesion molecules (CAMs) hsa04514
3 Tight junction hsa04530

GO Terms for Hydrocephalus

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

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

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 8.92 FLNA FOXC1 NFIA STK36

Sources for Hydrocephalus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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41 MeSH
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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