Congenital Hydrocephalus

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

Aliases & Classifications for Congenital Hydrocephalus

MalaCards integrated aliases for Congenital Hydrocephalus:

Name: Congenital Hydrocephalus 53 59 37 55 33
Hydrocephalus 53 72
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 72
Hydrocephalus Adverse Event 72
Ventriculomegaly 53
Hydrocephaly 53


Orphanet epidemiological data:

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


External Ids:

KEGG 37 H01677
ICD10 33 Q03 Q03.9
ICD10 via Orphanet 34 Q03.0 Q03.1 Q03.8 more
UMLS via Orphanet 73 C0020256
Orphanet 59 ORPHA2185
UMLS 72 C0020255 C1963137 C3887608

Summaries for Congenital Hydrocephalus

NIH Rare Diseases : 53 Congenital hydrocephalus is 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.

MalaCards based summary : Congenital Hydrocephalus, also known as hydrocephalus, is related to hydrocephalus, congenital, 1 and hydrocephalus due to congenital stenosis of aqueduct of sylvius, and has symptoms including seizures, tremor and back pain. An important gene associated with Congenital Hydrocephalus is CCDC88C (Coiled-Coil Domain Containing 88C), and among its related pathways/superpathways are Axon guidance and Cell adhesion molecules (CAMs). The drugs Citalopram and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and pineal, and related phenotypes are hydrocephalus and macrocephaly

KEGG : 37
Congenital hydrocephalus is a common birth defect in the circulation of the cerebrospinal fluid (CSF). It is characterized by ventricular dilatation. Although commonly considered a single disorder, hydrocephalus is a collection of a heterogeneous complex and multifactorial disorders. It may occur alone (non-syndromic) or as part of a syndrome with other anomalies. Almost 50% of all cases of hydrocephalus are congenital and these are usually associated with adverse neurological outcome. It is probably the consequence of abnormal brain development. Genetic factors are involved in the pathogenesis of this disease. Molecular genetic studies have revealed that the responsible gene for X-linked human congenital hydrocephalus is encoding for L1CAM. Although the recurrence risk for congenital hydrocephalus excluding X-linked hydrocephalus is low, recently, a few genes for autosomal recessive congenital hydrocephalus have been identified. Besides genetic factors, many other factors influence the development of congenital hydrocephalus, such as congenital malformations, intracerebral hemorrhage, maternal alcohol use, infection, and X-ray radiation during pregnancy.

Related Diseases for Congenital 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 Congenital Hydrocephalus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1401)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus, congenital, 1 34.1 MPDZ CCDC88C
2 hydrocephalus due to congenital stenosis of aqueduct of sylvius 31.1 MBP L1CAM
3 hydrocephalus 30.8 STK36 MPDZ MBP L1CAM HYDIN FZD3
4 periventricular leukomalacia 29.7 TNF MBP
5 myelitis 29.6 TNF MBP
6 transverse myelitis 29.3 TNF MBP
7 progressive multifocal leukoencephalopathy 29.1 TNF MBP
8 spinal cord disease 29.0 TNF MBP
9 ventriculomegaly with cystic kidney disease 12.8
10 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.7
11 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.7
12 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.5
13 vacterl association, x-linked, with or without hydrocephalus 12.5
14 hydrocephalus, endocardial fibroelastosis, and cataracts 12.5
15 thoracic dysplasia-hydrocephalus syndrome 12.5
16 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.5
17 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.4
18 vacterl hydrocephaly 12.4
19 ventriculomegaly with defects of the radius and kidney 12.4
20 hydrocephalus-cleft palate-joint contractures syndrome 12.3
21 hydrocephalus, autosomal dominant 12.3
22 vacterl association with hydrocephaly, x-linked 12.3
23 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 12.2
24 vacterl with hydrocephalus 12.2
25 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 12.2
26 hydrocephalus skeletal anomalies 12.2
27 cerebellum agenesis hydrocephaly 12.1
28 enamel hypoplasia cataract hydrocephaly 12.1
29 growth retardation hydrocephaly lung hypoplasia 12.1
30 hydrocephalus autosomal recessive 12.0
31 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.0
32 port-wine nevi-mega cisterna magna-hydrocephalus syndrome 12.0
33 daentl towsend siegel syndrome 12.0
34 cole-carpenter syndrome 1 12.0
35 cole-carpenter syndrome 12.0
36 hydrocephalus obesity hypogonadism 11.9
37 beemer ertbruggen syndrome 11.9
38 chudley-mccullough syndrome 11.9
39 chromosome 8q12.1-q21.2 deletion syndrome 11.7
40 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.6
41 hordnes engebretsen knudtson syndrome 11.5
42 mucopolysaccharidosis, type ii 11.5
43 pettigrew syndrome 11.5
44 beemer lethal malformation syndrome 11.5
45 melanosis, neurocutaneous 11.4
46 fanconi anemia, complementation group b 11.4
47 mucopolysaccharidosis, type vi 11.4
48 subependymal giant cell astrocytoma 11.4
49 vater/vacterl association 11.4
50 plasminogen deficiency, type i 11.4

Graphical network of the top 20 diseases related to Congenital Hydrocephalus:

Diseases related to Congenital Hydrocephalus

Symptoms & Phenotypes for Congenital Hydrocephalus

Human phenotypes related to Congenital Hydrocephalus:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 macrocephaly 59 Frequent (79-30%)
3 frontal bossing 59 Frequent (79-30%)
4 intellectual disability 59 Frequent (79-30%)
5 seizures 59 Frequent (79-30%)
6 sensorineural hearing impairment 59 Very rare (<4-1%)
7 optic atrophy 59 Very rare (<4-1%)
8 strabismus 59 Frequent (79-30%)
9 ventriculomegaly 59 Frequent (79-30%)
10 motor delay 59 Frequent (79-30%)
11 iris coloboma 59 Frequent (79-30%)
12 facial asymmetry 59 Frequent (79-30%)
13 downslanted palpebral fissures 59 Frequent (79-30%)
14 bulbous nose 59 Frequent (79-30%)
15 lissencephaly 59 Very rare (<4-1%)
16 posteriorly rotated ears 59 Frequent (79-30%)
17 small cerebral cortex 59 Frequent (79-30%)
18 abnormal cortical gyration 59 Frequent (79-30%)
19 colpocephaly 59 Frequent (79-30%)
20 macular hypoplasia 59 Very rare (<4-1%)
21 abnormal heart morphology 59 Very rare (<4-1%)

UMLS symptoms related to Congenital Hydrocephalus:

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

MGI Mouse Phenotypes related to Congenital Hydrocephalus:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 EML1 FZD3 HYDIN ISLR2 L1CAM MBP
2 cellular MP:0005384 10.18 EML1 FOXC1 FOXL1 FZD3 HYDIN L1CAM
3 growth/size/body region MP:0005378 10.1 EML1 FOXC1 FOXL1 FZD3 HYDIN L1CAM
4 nervous system MP:0003631 9.93 EML1 FOXC1 FZD3 HYDIN ISLR2 L1CAM
5 craniofacial MP:0005382 9.91 EML1 FOXC1 HYDIN L1CAM POMK STK36
6 hearing/vestibular/ear MP:0005377 9.65 ALDH1L1 FZD3 MBP MPDZ STK36
7 reproductive system MP:0005389 9.56 FOXC1 FZD3 HYDIN L1CAM MBP POMK
8 vision/eye MP:0005391 9.17 EML1 FOXC1 FZD3 L1CAM MBP TNF

Drugs & Therapeutics for Congenital Hydrocephalus

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

(show top 50) (show all 189)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Citalopram Approved Phase 4 59729-33-8 2771
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6 Pharmaceutical Solutions Phase 4
7 Serotonin Uptake Inhibitors Phase 4
8 Serotonin Receptor Agonists Phase 4
9 Cholinergic Agents Phase 4
10 Muscarinic Antagonists Phase 4
11 Neurotransmitter Uptake Inhibitors Phase 4
12 Cholinergic Antagonists Phase 4
13 Serotonin Agents Phase 4
14 Excitatory Amino Acid Antagonists Phase 4
15 Anesthetics, Dissociative Phase 4
16 Excitatory Amino Acids Phase 4
17 Anesthetics Phase 4
18 Analgesics Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Peripheral Nervous System Agents Phase 4
21 Neurotransmitter Agents Phase 4
22 Adrenergic alpha-2 Receptor Agonists Phase 4
23 Adrenergic Agonists Phase 4
24 Adrenergic alpha-Agonists Phase 4
25 Central Nervous System Depressants Phase 4
26 Adrenergic Agents Phase 4
27 Hypnotics and Sedatives Phase 4
28 Anesthetics, General Phase 4
29 Anesthetics, Intravenous Phase 4
Glycopyrrolate Phase 4 596-51-0 3494
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213
Sodium citrate Approved, Investigational Phase 3 68-04-2
Simvastatin Approved Phase 2, Phase 3 79902-63-9 54454
Guaifenesin Approved, Investigational, Vet_approved Phase 2, Phase 3 93-14-1 3516
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
Codeine Approved, Illicit Phase 2, Phase 3 76-57-3 5284371
Naproxen Approved, Vet_approved Phase 2, Phase 3 22204-53-1 1302 156391
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
Aspirin Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Tranexamic Acid Approved Phase 2, Phase 3 1197-18-8 5526
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
Remifentanil Approved Phase 3 132875-61-7 60815
Isoflurane Approved, Vet_approved Phase 3 26675-46-7 3763
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 243)
# 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 Validation of a New Non Invasive Method for Intracranial Pressure Monitoring Completed NCT01685476 Phase 4
6 Establishment of Baseline and Comparative Infection Rates for the Codman BACTISEAL TM External Ventricular Drainage (EVD) System Completed NCT00197392 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
9 An Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
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 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Completed NCT02651337 Phase 3
16 A Randomized Controlled Trial of Two Hemoglobin Thresholds for Transfusion in Newborns <1000g Birth Weight Completed NCT00182390 Phase 3
17 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
18 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
19 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
20 Randomized Indomethacin Germinal Matrix Hemorrhage/Intraventricular Hemorrhage (GMH/IVH) Prevention Trial Completed NCT00033917 Phase 3 indomethacin;placebo
21 Baskent University Institutional Review Board Completed NCT02325583 Phase 3 30% Glucose;Midazolam
22 The Impact of Ventricular Catheter Impregnated With Antimicrobial Agents on Infection in Patients With Ventricular Catheter: A Prospective Randomized Study Completed NCT00286104 Phase 3
23 High Versus Low Dose of Caffeine for Apnea of Prematurity: A Double Blind Randomized Control Trial Completed NCT02103777 Phase 3 Caffeine citrate
24 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
25 EARLYdrain - Prospective Outcome Study of Early Lumbar Drainage in Aneurysmal Subarachnoid Hemorrhage Completed NCT01258257 Phase 3
26 High-dose Simvastatin for Aneurysmal Subarachnoid Haemorrhage: Is it Better? Completed NCT01077206 Phase 2, Phase 3 Simvastatin
27 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
28 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
29 Intraventricular Fibrinolysis Versus External Ventricular Drainage Alone in Aneurysmal Subarachnoid Hemorrhage: a Randomized Controlled Trial. Recruiting NCT03187405 Phase 3 EVD + IVF with Alteplase
30 Ultra-early Tranexamic Acid After Subarachnoid Hemorrhage. A Prospective, Randomized, Multicenter Study. Recruiting NCT02684812 Phase 2, Phase 3 Tranexamic Acid
31 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
32 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
33 Neurocognitive Outcomes and Changes in Brain and Cerebral Spinal Fluid (CSF) Volume After Treatment of Post-Infectious Hydrocephalus (PIH) in Ugandan Infants by Shunting Versus ETV/CPC Active, not recruiting NCT01936272 Phase 3
34 A Randomized Controlled Trial of Anterior Versus Posterior Entry Site for Cerebrospinal Fluid Shunt Insertion Active, not recruiting NCT02425761 Phase 3
35 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
36 Preterm Erythropoietin Neuroprotection Trial (PENUT Trial) Active, not recruiting NCT01378273 Phase 3 Epo
37 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
38 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
39 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
40 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
41 Comparison of Ceftazidime Pharmacokinetic in Cerebrospinal Fluid Between Continuous and Intermittent Administration Unknown status NCT00752882 Phase 2 ceftazidime
42 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
43 Clinical Study of Idiopathic Normal Pressure Hydrocephalus for Neurological Improvement Completed NCT00221091 Phase 2
44 International Infant Hydrocephalus Study: A Multicentre, Prospective Study Completed NCT00652470 Phase 2
45 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
46 Lumbar Drainage of Cerebrospinal Fluid in Aneurysmal Subarachnoid Haemorrhage: A Prospective Randomised Controlled Trial Completed NCT00842049 Phase 2
47 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
48 Acetazolamide for Treating NPH in Shunt-candidates Patients: an Open Label Feasibility Trial Recruiting NCT03779594 Phase 2 Acetazolamide
49 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 Recruiting NCT01072370 Phase 1, Phase 2
50 Intermittent Hypoxia and Caffeine in Infants Born Preterm (ICAF) Recruiting NCT03321734 Phase 2 Caffeine;Placebos

Search NIH Clinical Center for Congenital Hydrocephalus

Genetic Tests for Congenital Hydrocephalus

Anatomical Context for Congenital Hydrocephalus

MalaCards organs/tissues related to Congenital Hydrocephalus:

Brain, Testes, Pineal, Spinal Cord, Bone, Pituitary, Heart

Publications for Congenital Hydrocephalus

Articles related to Congenital Hydrocephalus:

(show top 50) (show all 23929)
# Title Authors PMID Year
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. 38 71
29225145 2018
The genetic landscape of familial congenital hydrocephalus. 38 71
28556411 2017
Mutation in MPDZ causes severe congenital hydrocephalus. 38 71
23240096 2013
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. 38 71
23042809 2012
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 38 71
21031079 2010
Expanding the phenotypic spectrum of L1CAM-associated disease. 9 38
16650080 2006
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 9 38
11857550 2002
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 9 38
10797421 2000
Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus. 9 38
10632110 2000
A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus. 9 38
9088116 1996
The Role of Galectin-3 in Subarachnoid Hemorrhage: A Preliminary Study. 38
31407065 2020
Application of neuroendoscopic surgical techniques in the assessment and treatment of cerebral ventricular infection. 38
31397347 2019
Comparing Outcomes of Patients With Idiopathic Subarachnoid Hemorrhage by Stratifying Perimesencephalic Bleeding Patterns. 38
31303438 2019
Cranioplasty after craniectomy in pediatric patients-a systematic review. 38
30610476 2019
Craniocerebral disproportion after decompressive craniectomy in infants: The hidden enemy of cranial repair? 38
31134339 2019
Papillary Tumor of the Pineal Region: Systematic Review and Analysis of Prognostic Factors. 38
30989225 2019
Ruptured intracranial dermoid cysts: A retrospective institutional review. 38
31088770 2019
Management of tracheostomized patients after poor grade subarachnoid hemorrhage: Disease related and pulmonary risk factors for failed and delayed decannulation. 38
31306892 2019
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. 38
31294511 2019
Acute Hydrocephalus Resulting from Neuromyelitis Optica: A Case Report and Review of the Literature. 38
31200081 2019
Deconstructing or reestablishing frontal gait in normal pressure hydrocephalus? 38
31336232 2019
Long-Term Efficacy of Shunt Therapy in Idiopathic Normal Pressure Hydrocephalus. 38
31154105 2019
Letter regarding the article entitled 'Is frontal gait a myth in normal pressure hydrocephalus?' 38
31336233 2019
Ventriculo-humeral shunt: a cadaveric feasibility study with application to treating hydrocephalus. 38
31055619 2019
Shunt independence in paediatric hydrocephalus: our 16-year experience and review. 38
31250092 2019
A case of hydrocephalus in a child from early modern period Žumberak, Croatia. 38
31151079 2019
Endoscopic Fourth Ventriculostomy: Suboccipital Transaqueductal Approach for Fenestration of Isolated Fourth Ventricle: Case Report and Technical Note. 38
31203068 2019
Pediatric Rhabdoid Meningioma with Extension to the Heart: A First Case Report and Literature Review. 38
31247353 2019
First case report of spontaneous posterior fossa subdural hemorrhage - A rare cause of neonatal encephalopathy. 38
31221575 2019
Auditory and language outcomes of unilateral cochlear implantation in shunt treated hydrocephalus: A case study. 38
31174025 2019
Normal Pressure Hydrocephalus with Primary Presentation of Psychiatric Disturbance: Case Report. 38
31075808 2019
Pineal Cyst without Hydrocephalus: Clinical Presentation and Postoperative Clinical Course After Infratentorial Supracerebellar Resection. 38
31154104 2019
Risk and Prognostic Factors for Rupture of Intracranial Aneurysms During Endovascular Embolization. 38
31158537 2019
Diagnosis of Ventricular Shunt Infection in Children: A Systematic Review. 38
31100520 2019
Adjuvant immunosuppression for paradoxical deterioration in tuberculous meningitis including one case responsive to cyclosporine. A tertiary referral hospital experience. 38
31330455 2019
Greenstick fracture-hinge decompressive craniotomy in infants: illustrative case and literature review of techniques for decompressive craniotomy without bone removal. 38
31069483 2019
Altered neonatal white and gray matter microstructure is associated with neurodevelopmental impairments in very preterm infants with high-grade brain injury. 38
31212303 2019
Identification of Potential Cerebrospinal Fluid Biomarkers To Discriminate between Infection and Sterile Inflammation in a Rat Model of Staphylococcus epidermidis Catheter Infection. 38
31262978 2019
Endoscopic Third Ventriculostomy versus Ventriculoperitoneal Shunt in Patients with Obstructive Hydrocephalus: Meta-Analysis of Randomized Controlled Trials. 38
31136836 2019
Acute Hydrocephalus Requiring External Ventricular Drainage Following Perimesencephalic Nonaneurysmal Subarachnoid Hemorrhage in a Pediatric Patient: Case Report and Review of the Literature. 38
31229747 2019
Fenestration of Lamina Terminalis During Anterior Circulation Aneurysm Clipping on Occurrence of Shunt-Dependent Hydrocephalus After Aneurysmal Subarachnoid Hemorrhage: Meta-Analysis. 38
30780038 2019
Diffuse midline glioma metastasis to the peritoneal cavity via ventriculo-peritoneal shunt: Case report and review of literature. 38
31266714 2019
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for Pediatric Myelomeningocele: Executive Summary. 38
31418038 2019
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Management of Patients With Myelomeningocele: Whether Persistent Ventriculomegaly Adversely Impacts Neurocognitive Development. 38
31418036 2019
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Incidence of Shunt-Dependent Hydrocephalus in Infants With Myelomeningocele After Prenatal Versus Postnatal Repair. 38
31418039 2019
Adult outcome after neurosurgical treatment of brain tumours in the first year of life: long-term follow-up of a single consecutive institutional series of 34 patients. 38
31309304 2019
Clinical characteristics of tuberculous meningitis combined with cranial nerve palsy. 38
31336359 2019
The ventriculo-cholecystic shunt: does CSF volume matter? 38
31350574 2019
Hydrocephalus associated with multiple Tarlov cysts. 38
31383334 2019
A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus. 38
31093799 2019

Variations for Congenital Hydrocephalus

Expression for Congenital Hydrocephalus

Search GEO for disease gene expression data for Congenital Hydrocephalus.

Pathways for Congenital Hydrocephalus

Pathways related to Congenital Hydrocephalus according to KEGG:

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

GO Terms for Congenital Hydrocephalus

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.02 TNF MBP L1CAM ISLR2 FZD3

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.56 TNF STK36 L1CAM ISLR2 HYDIN FZD3
2 negative regulation of mitotic cell cycle GO:0045930 9.26 TNF FOXC1
3 positive regulation of axon extension GO:0045773 9.16 L1CAM ISLR2
4 brain development GO:0007420 9.1 STK36 POMK HYDIN FZD3 FOXC1 EML1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding, bending GO:0008301 8.62 FOXL1 FOXC1

Sources for Congenital Hydrocephalus

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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