MCID: CNG216
MIFTS: 49

Congenital Hydrocephalus

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

Aliases & Classifications for Congenital Hydrocephalus

MalaCards integrated aliases for Congenital Hydrocephalus:

Name: Congenital Hydrocephalus 53 59 37 55
Hydrocephalus 53 73
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 73
Hydrocephalus Adverse Event 73
Ventriculomegaly 53
Hydrocephaly 53

Characteristics:

Orphanet epidemiological data:

59
congenital hydrocephalus
Prevalence: 6-9/10000 (United States),1-5/10000 (Europe);

Classifications:



External Ids:

Orphanet 59 ORPHA2185
ICD10 via Orphanet 34 Q03.1 Q03.8 Q03.9 more
UMLS via Orphanet 74 C0020256
KEGG 37 H01677
ICD10 33 Q03
SNOMED-CT via HPO 69 230745008

Summaries for Congenital Hydrocephalus

NIH Rare Diseases : 53 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.

MalaCards based summary : Congenital Hydrocephalus, also known as hydrocephalus, is related to hydrocephalus, nonsyndromic, autosomal recessive 1 and hydrocephalus due to congenital stenosis of aqueduct of sylvius, and has symptoms including back pain, headache and pain. An important gene associated with Congenital Hydrocephalus is L1CAM (L1 Cell Adhesion Molecule), and among its related pathways/superpathways are Axon guidance and Cell adhesion molecules (CAMs). The drugs Cefoxitin and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and spinal cord, and related phenotypes are hydrocephalus and cellular

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus, nonsyndromic, autosomal recessive 1 32.6 CCDC88C MPDZ
2 hydrocephalus due to congenital stenosis of aqueduct of sylvius 30.3 L1CAM MBP
3 hydrocephalus 29.5 CCDC88C FOXC1 FZD3 HYDIN L1CAM MBP
4 ventriculomegaly with cystic kidney disease 12.4
5 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.4
6 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.3
7 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.0
8 vacterl hydrocephaly 12.0
9 vacterl association with hydrocephaly, x-linked 11.9
10 ventriculomegaly with defects of the radius and kidney 11.9
11 cerebellum agenesis hydrocephaly 11.8
12 enamel hypoplasia cataract hydrocephaly 11.8
13 growth retardation hydrocephaly lung hypoplasia 11.8
14 hydrocephaly corpus callosum agenesis diaphragmatic hernia 11.8
15 hydrolethalus syndrome 2 11.0
16 tenorio syndrome 11.0
17 game friedman paradice syndrome 11.0
18 palmer pagon syndrome 11.0
19 nijmegen breakage syndrome 10.9
20 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.9
21 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
22 hurler syndrome 10.9
23 hurler-scheie syndrome 10.9
24 microphthalmia, syndromic 12 10.9
25 hydrocephalus obesity hypogonadism 10.8
26 hydrocephalus with associated malformations 10.8
27 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 10.8
28 hydrocephalus with cerebellar agenesis 10.8
29 hydrocephalus, nonsyndromic, autosomal recessive 2 10.8
30 daish hardman lamont syndrome 10.8
31 granulomatous dermatitis 10.5 FOXC1 TNF
32 dandy-walker syndrome 10.5
33 transverse myelitis 10.3 MBP TNF
34 myelitis 10.3 MBP TNF
35 spinal cord disease 10.2 MBP TNF
36 hydranencephaly 10.2
37 periventricular leukomalacia 10.2 MBP TNF
38 distichiasis 10.2 FOXC1 FOXL1
39 hereditary lymphedema 10.1 FOXC1 FOXL1
40 congenital non-communicating hydrocephalus 10.1
41 progressive multifocal leukoencephalopathy 10.1 MBP TNF
42 congenital communicating hydrocephalus 10.0
43 anencephaly 10.0
44 viral encephalitis 10.0 MBP TNF
45 neural tube defects 9.9
46 hydrocephalus with stenosis of the aqueduct of sylvius 9.9
47 isolated dandy-walker malformation without hydrocephalus 9.9
48 isolated dandy-walker malformation with hydrocephalus 9.9
49 blake pouch cyst 9.9
50 angelman syndrome 9.8

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
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238

UMLS symptoms related to Congenital Hydrocephalus:


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

MGI Mouse Phenotypes related to Congenital Hydrocephalus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 L1CAM MBP POMK STK36 TNF VAC14
2 behavior/neurological MP:0005386 10.17 VAC14 WDR81 EML1 FZD3 HYDIN L1CAM
3 growth/size/body region MP:0005378 10.1 EML1 FOXC1 FOXL1 FZD3 HYDIN L1CAM
4 craniofacial MP:0005382 9.91 EML1 FOXC1 HYDIN L1CAM POMK STK36
5 nervous system MP:0003631 9.9 EML1 FOXC1 FZD3 HYDIN L1CAM MBP
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 171)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cefoxitin Approved Phase 4 35607-66-0 441199
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Propranolol Approved, Investigational Phase 4 525-66-6 4946
4
Citalopram Approved Phase 4 59729-33-8 2771
5
Cefotaxime Approved Phase 4 63527-52-6 456256 5742673
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3 50-02-2 5743
7 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3
8 Analgesics Phase 4,Phase 3,Not Applicable
9 Adrenergic Agents Phase 4,Phase 3,Phase 1,Phase 2
10 Adrenergic Antagonists Phase 4
11 Adrenergic beta-Antagonists Phase 4
12 Cholinergic Agents Phase 4,Not Applicable
13 Muscarinic Antagonists Phase 4
14 Cholinergic Antagonists Phase 4
15 Serotonin Agents Phase 4
16 Serotonin Uptake Inhibitors Phase 4
17 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
18 Analgesics, Non-Narcotic Phase 4,Phase 3
19 Neurotransmitter Uptake Inhibitors Phase 4
20 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
21 Hormones Phase 4,Phase 3,Phase 1,Phase 2
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
23 Anti-Arrhythmia Agents Phase 4
24 Vasodilator Agents Phase 4,Phase 2
25 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
26 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2
27 Antihypertensive Agents Phase 4
28 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
29 Lactams Phase 4
30 Antipyretics Phase 4
31 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
32 beta-Lactams Phase 4
33 Dexamethasone acetate Phase 4,Phase 3 1177-87-3
34 glucocorticoids Phase 4,Phase 3
35
protease inhibitors Phase 4,Phase 3
36 Gastrointestinal Agents Phase 4,Phase 3
37 HIV Protease Inhibitors Phase 4,Phase 3
38 Antiemetics Phase 4,Phase 3
39 Anti-Inflammatory Agents Phase 4,Phase 3
40 BB 1101 Phase 4,Phase 3
41 Antineoplastic Agents, Hormonal Phase 4,Phase 3
42
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
43
Cisplatin Approved Phase 2, Phase 3,Not Applicable 15663-27-1 84093 441203 2767
44
Rifampicin Approved Phase 3 13292-46-1 5458213 5381226
45
Vincristine Approved, Investigational Phase 2, Phase 3,Not Applicable 2068-78-2, 57-22-7 5978
46
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
47
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
48
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 50-18-0, 6055-19-2 2907
49
Everolimus Approved Phase 3 159351-69-6 6442177
50
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029

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 Intraoral 30% Glucose Effect In Newborns Completed NCT02325583 Phase 3 30% Glucose;Midazolam
20 Impact of Ventricular Catheter Used With Antimicrobial Agents on Patients With a Ventricular Catheter Completed NCT00286104 Phase 3
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 Congenital Hydrocephalus

Genetic Tests for Congenital Hydrocephalus

Anatomical Context for Congenital Hydrocephalus

MalaCards organs/tissues related to Congenital Hydrocephalus:

41
Brain, Bone, Spinal Cord, Testes, Pituitary, Fetal Brain, Eye

Publications for Congenital Hydrocephalus

Articles related to Congenital Hydrocephalus:

(show top 50) (show all 77)
# Title Authors Year
1
Spontaneous Ventriculostomy into the Subdural Space in a Neonate with Congenital Hydrocephalus. ( 29627843 )
2018
2
Congenital Hydrocephalus: GA^mez-LA^pez-HernA!ndez syndrome. An underdiagnosed Syndrome. A clinical case. ( 29664509 )
2018
3
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
4
Prevalence and trend of isolated and complicated congenital hydrocephalus and preventive effect of folic acid in northern China, 2005-2015. ( 29388147 )
2018
5
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. ( 29341397 )
2018
6
Altered folate binding protein expression and folate delivery are associated with congenital hydrocephalus in the hydrocephalic Texas rat. ( 29798726 )
2018
7
Quality of Life in Individuals Surgically Treated for Congenital Hydrocephalus During Infancy: A Single-Institution Experience. ( 28179172 )
2017
8
The impact of fetal middle cerebral artery Doppler on the outcome of congenital hydrocephalus. ( 28114843 )
2017
9
Changes in prevalence and perinatal outcomes of congenital hydrocephalus among Chinese newborns: a retrospective analysis based on the hospital-based birth defects surveillance system. ( 29202729 )
2017
10
Cerebrospinal fluid biomarkers of infantile congenital hydrocephalus. ( 28212403 )
2017
11
The genetic landscape of familial congenital hydrocephalus. ( 28556411 )
2017
12
Health-related Quality of Life in Children with Congenital Hydrocephalus and the Parental Concern: An Analysis in a Developing Nation. ( 29204201 )
2017
13
Ethical Dilemmas in Postnatal Treatment of Severe Congenital Hydrocephalus. ( 26788949 )
2016
14
Restricted Pax3 Deletion within the Neural Tube Results in Congenital Hydrocephalus. ( 26949601 )
2016
15
Congenital Hydrocephalus. ( 26704658 )
2016
16
Experience of ventriculo-peritoneal shunt insertion in late presenting congenital hydrocephalus. ( 27122270 )
2016
17
Diffusion tensor imaging study of pediatric patients with congenital hydrocephalus: 1-year postsurgical outcomes. ( 27203134 )
2016
18
Are Shunt Revisions Associated with IQ in Congenital Hydrocephalus? A Meta -Analysis. ( 27815765 )
2016
19
Maternal environmental risk factors for congenital hydrocephalus: a systematic review. ( 27798989 )
2016
20
Large Congenital Hydrocephalus:Extended Survival without Neurosurgery. ( 27282726 )
2015
21
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. ( 26495167 )
2015
22
Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique newA syndrome. ( 26649128 )
2015
23
Adult long-term health-related quality of life of congenital hydrocephalus patients. ( 26339956 )
2015
24
Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3a89qter). ( 26929909 )
2015
25
Repeated autologous umbilical cord blood infusions are feasible and had no acute safety issues in young babies with congenital hydrocephalus. ( 26331765 )
2015
26
Visual function in infants with congenital hydrocephalus with and without myelomeningocoele. ( 23904039 )
2014
27
Factors affecting surgical outcome of endoscopic third ventriculostomy in congenital hydrocephalus. ( 24923872 )
2014
28
Hypomagnesemia secondary to cerebrospinal fluid losses in a patient with congenital hydrocephalus. ( 25073495 )
2014
29
Adult long-term outcome of patients after congenital hydrocephalus shunt therapy. ( 25323796 )
2014
30
Risk factors for congenital hydrocephalus: a nationwide, register-based, cohort study. ( 24667207 )
2014
31
Covert orienting in three etiologies of congenital hydrocephalus: the effect of midbrain and posterior fossa dysmorphology. ( 24528548 )
2014
32
Increased levels of tumour necrosis factor alpha (TNFI+) but not transforming growth factor-beta 1 (TGFI^1) are associated with the severity of congenital hydrocephalus in the hyh mouse. ( 24707814 )
2014
33
Impaired methylation modifications of FZD3 alter chromatin accessibility and are involved in congenital hydrocephalus pathogenesis. ( 24796881 )
2014
34
Mutation in MPDZ causes severe congenital hydrocephalus. ( 23240096 )
2013
35
Factors affecting quality of life in early childhood in patients with congenital hydrocephalus. ( 24326950 )
2013
36
Role of the subcommissural organ in the pathogenesis of congenital hydrocephalus in the HTx rat. ( 23640132 )
2013
37
Delayed germinal matrix hemorrhage induced by ventriculoperitoneal shunt insertion for congenital hydrocephalus. ( 23641962 )
2013
38
A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and Toxoplasma gondii in the etiology of congenital hydrocephalus. ( 23716471 )
2013
39
Unilateral cortical hyperexcitability in congenital hydrocephalus: A TMS study. ( 23682715 )
2013
40
William Watson Cheyne (1852-1932): a life in medicine and his innovative surgical treatment of congenital hydrocephalus. ( 23839252 )
2013
41
Congenital hydrocephalus in the northeast of Brazil: epidemiological aspects, prenatal diagnosis, and treatment. ( 23609898 )
2013
42
Aqueductal developmental venous anomaly as an unusual cause of congenital hydrocephalus: a case report and review of the literature. ( 22236945 )
2012
43
Visual disturbance following shunt malfunction in a patient with congenital hydrocephalus. ( 23183081 )
2012
44
Two novel CCDC>88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. ( 23042809 )
2012
45
Prototheca wickerhamii as a cause of neuroinfection in a child with congenital hydrocephalus. First case of human protothecosis in Poland. ( 22858361 )
2012
46
Congenital hydrocephalus in genetically engineered mice. ( 21746835 )
2012
47
Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice. ( 22291885 )
2012
48
Decompensated chronic congenital hydrocephalus. ( 22368987 )
2011
49
Giant unusual shaped chronic subdural hematoma in a patient with untreated congenital hydrocephalus. ( 22347339 )
2011
50
Addressing a folate imbalance in fetal cerebrospinal fluid can decrease the incidence of congenital hydrocephalus. ( 19287311 )
2009

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:

37
# Name Kegg Source Accession
1 Axon guidance hsa04360
2 Cell adhesion molecules (CAMs) hsa04514
3 Tight junction hsa04530

GO Terms for Congenital Hydrocephalus

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 9.5 FOXC1 FOXL1 FZD3 HYDIN L1CAM STK36
2 negative regulation of mitotic cell cycle GO:0045930 9.16 FOXC1 TNF
3 brain development GO:0007420 9.1 EML1 FOXC1 FZD3 HYDIN POMK STK36

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 FOXC1 FOXL1

Sources for Congenital 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
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