MCID: HYD006
MIFTS: 61

Hydrocephalus

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

Aliases & Classifications for Hydrocephalus

MalaCards integrated aliases for Hydrocephalus:

Name: Hydrocephalus 12 74 53 29 54 6 42 44 15 71 32
Hydrocephalus, Nonsyndromic, Autosomal Recessive 12 6 39
Hydrocephalus Adverse Event 71
Hydrocephalus, X-Linked 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10908
MeSH 44 D006849
NCIt 50 C3111
SNOMED-CT 67 267687006
ICD10 32 G91 G91.9 G94.2
UMLS 71 C0020255 C1963137

Summaries for Hydrocephalus

NINDS : 53 Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal fluid (CSF) -- the clear fluid that surrounds the brain and spinal cord. This excessive accumulation results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain. Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by genetic abnormalities or developmental disorders such as spina bifida and encephalocele.  Acquired hydrocephalus develops at the time of birth or at some point afterward and can affect individuals of all ages.  For example, hydrocephalus ex-vacuo occurs when there is damage to the brain caused by stroke or traumatic injury.  Normal pressure hydrocephalus occurs most often among the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery, although many people develop normal pressure hydrocephalus without an obvious cause. Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to CSF. In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or an unusually large head size. In older children and adults, symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk, which is part of the optic nerve), downward deviation of the eyes (called "sunsetting"), problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of development (in children), lethargy, drowsiness, irritability, or other changes in personality or cognition, including memory loss. Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computer tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques.

MalaCards based summary : Hydrocephalus, also known as hydrocephalus, nonsyndromic, autosomal recessive, is related to congenital hydrocephalus and congenital communicating hydrocephalus, and has symptoms including seizures, tremor and back pain. An important gene associated with Hydrocephalus is CCDC88C (Coiled-Coil Domain Containing 88C), and among its related pathways/superpathways is MicroRNAs in cancer. The drugs Propofol and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include Brain, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.

MedlinePlus : 42 Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your brain. When you have too much, though, it puts harmful pressure on your brain. Hydrocephalus can be congenital, or present at birth. Causes include genetic problems and problems with how the fetus develops. An unusually large head is the main sign of congenital hydrocephalus. Hydrocephalus can also happen after birth. This is called acquired hydrocephalus. It can occur at any age. Causes can include head injuries, strokes, infections, tumors, and bleeding in the brain. Symptoms include Headache Vomiting and nausea Blurry vision Balance problems Bladder control problems Thinking and memory problems Hydrocephalus can permanently damage the brain, causing problems with physical and mental development. If untreated, it is usually fatal. With treatment, many people lead normal lives with few limitations. Treatment usually involves surgery to insert a shunt. A shunt is a flexible but sturdy plastic tube. The shunt moves the cerebrospinal fluid to another area of the body where it can be absorbed. Medicine and rehabilitation therapy can also help. NIH: National Institute of Neurological Disorders and Stroke

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

Related Diseases for Hydrocephalus

Diseases in the Hydrocephalus family:

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

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

(show top 50) (show all 1294)
# Related Disease Score Top Affiliating Genes
1 congenital hydrocephalus 33.2 TRIM71 MPDZ L1CAM CCDC88C
2 congenital communicating hydrocephalus 32.2 TRIM71 MPDZ
3 dandy-walker syndrome 31.6 PDGFRB NID1 KIAA1109 FOXC1 DPH1
4 porencephaly 31.2 PLOD1 NID1 L1CAM
5 hydrocephalus, congenital, 1 29.9 TMEM92 PLOD1 PDGFRB NID1 KIF4A KIAA1109
6 normal pressure hydrocephalus 11.7
7 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.7
8 masa syndrome 11.6
9 hydrocephalus due to congenital stenosis of aqueduct of sylvius 11.6
10 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.5
11 vacterl association, x-linked, with or without hydrocephalus 11.4
12 communicating hydrocephalus 11.4
13 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.4
14 obstructive hydrocephalus 11.4
15 walker-warburg syndrome 11.4
16 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.4
17 hydrocephalus, congenital, 3, with brain anomalies 11.4
18 vacterl association with hydrocephalus 11.4
19 hydrocephalus, endocardial fibroelastosis, and cataracts 11.3
20 thoracic dysplasia-hydrocephalus syndrome 11.3
21 aase-smith syndrome i 11.3
22 hydrocephalus, congenital communicating, 1 11.3
23 daentl towsend siegel syndrome 11.3
24 braddock jones superneau syndrome 11.3
25 hydrocephalus obesity hypogonadism 11.3
26 hydrocephalus, normal-pressure, 1 11.3
27 cole-carpenter syndrome 1 11.3
28 cole-carpenter syndrome 11.3
29 hydrocephalus with stenosis of the aqueduct of sylvius 11.3
30 beemer lethal malformation syndrome 11.3
31 neural tube defects 11.3
32 chromosome 8q12.1-q21.2 deletion syndrome 11.2
33 hydrocephalus with cerebellar agenesis 11.2
34 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.2
35 myelomeningocele 11.2
36 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.2
37 chudley-mccullough syndrome 11.2
38 papilloma of choroid plexus 11.2
39 hydrocephalus, autosomal dominant 11.2
40 hydrocephalus with associated malformations 11.1
41 megalencephaly-capillary malformation-polymicrogyria syndrome 11.0
42 hydranencephaly 11.0
43 chiari malformation 11.0
44 mucopolysaccharidosis, type ii 11.0
45 schizencephaly 11.0
46 pettigrew syndrome 11.0
47 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
48 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 11.0
49 achondroplasia 11.0
50 crouzon syndrome with acanthosis nigricans 11.0

Graphical network of the top 20 diseases related to Hydrocephalus:



Diseases related to Hydrocephalus

Symptoms & Phenotypes for Hydrocephalus

UMLS symptoms related to Hydrocephalus:


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

MGI Mouse Phenotypes related to Hydrocephalus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ARFGEF2 CCDC88C CFAP43 DPH1 FANCB FGFR2
2 growth/size/body region MP:0005378 10.24 ARFGEF2 CCDC88C CCND2 DPH1 FANCB FGFR2
3 cardiovascular system MP:0005385 10.2 CCND2 FGFR2 FOXC1 HYDIN KIAA1109 MPDZ
4 mortality/aging MP:0010768 10.17 ARFGEF2 CCND2 CFAP43 DPH1 FGFR2 FOXC1
5 nervous system MP:0003631 10.16 ARFGEF2 CCDC88C CCND2 CFAP43 DPH1 FGFR2
6 craniofacial MP:0005382 10.01 CCND2 DPH1 FGFR2 FOXC1 HYDIN L1CAM
7 reproductive system MP:0005389 9.81 CCND2 CFAP43 FANCB FGFR2 FOXC1 FZD3
8 respiratory system MP:0005388 9.5 CFAP43 DPH1 FGFR2 FOXC1 FZD3 HYDIN
9 vision/eye MP:0005391 9.36 CCND2 DPH1 FGFR2 FOXC1 FZD3 KIAA1109

Drugs & Therapeutics for Hydrocephalus

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

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
5
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6 Anesthetics Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Analgesics, Non-Narcotic Phase 4
9 Hypnotics and Sedatives Phase 4
10 Analgesics Phase 4
11 Anesthetics, General Phase 4
12 Neurotransmitter Agents Phase 4
13 Anesthetics, Inhalation Phase 4
14 Adrenergic Agents Phase 4
15 Adrenergic Agonists Phase 4
16 Sodium Channel Blockers Phase 4
17 Pharmaceutical Solutions Phase 4
18 Platelet Aggregation Inhibitors Phase 4
19 Anesthetics, Intravenous Phase 4
20 Cholinergic Antagonists Phase 4
21 Muscarinic Antagonists Phase 4
22 Diuretics, Potassium Sparing Phase 4
23 Anesthetics, Local Phase 4
24
Glycopyrrolate Phase 4 596-51-0 3494
25 Anti-Arrhythmia Agents Phase 4
26 Cholinergic Agents Phase 4
27
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
28
Rifampicin Approved Phase 3 13292-46-1 5458213 5381226
29
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
30
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
31
Remifentanil Approved Phase 3 132875-61-7 60815
32
Isoflurane Approved, Vet_approved Phase 3 26675-46-7 3763
33 Flutemetamol Investigational Phase 3 637003-10-2
34 Antibiotics, Antitubercular Phase 3
35 Anti-Infective Agents Phase 3
36 Clindamycin palmitate Phase 3
37 Anti-Bacterial Agents Phase 3
38 Clindamycin phosphate Phase 3
39 Psychotropic Drugs Phase 3
40 GABA Modulators Phase 3
41 Anti-Anxiety Agents Phase 3
42 Radiopharmaceuticals Phase 3
43 Anticonvulsants Phase 3
44 diuretics Phase 3
45 Carbonic Anhydrase Inhibitors Phase 3
46 Liver Extracts Phase 2
47
Acetaminophen Approved Phase 1 103-90-2 1983
48
Coal tar Approved Phase 1 8007-45-2
49 Antipyretics Phase 1
50
Mesna Approved, Investigational 3375-50-6 598

Interventional clinical trials:

(show top 50) (show all 136)
# Name Status NCT ID Phase Drugs
1 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
2 Validation of a New Non Invasive Method of Indirect Measurement of the Intracranial Pressure Variations Unknown status NCT01685450 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 An Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Completed NCT03513757 Phase 4 propofol;Dexmedetomidine;Glycopyrrolate;Lidocaine 1% Injectable Solution;Nitrous Oxide;Sevoflurane
5 Accuracy of ShuntCheck and MRI in Detection of Shunt Obstruction in Patients Receiving Shunt Patency Test Withdrawn NCT00793416 Phase 4
6 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]
7 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
8 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
9 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
10 The Impact of Ventricular Catheter Impregnated With Antimicrobial Agents on Infection in Patients With Ventricular Catheter: A Prospective Randomized Study Completed NCT00286104 Phase 3
11 Baskent University Institutional Review Board Completed NCT02325583 Phase 3 30% Glucose;Midazolam
12 A Randomized Controlled Trial of Anterior Versus Posterior Entry Site for Cerebrospinal Fluid Shunt Insertion Active, not recruiting NCT02425761 Phase 3
13 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
14 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
15 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
16 Acetazolamide for Treating NPH in Shunt-candidates Patients: an Open Label Feasibility Trial Unknown status NCT03779594 Phase 2 Acetazolamide
17 Clinical Study of Idiopathic Normal Pressure Hydrocephalus for Neurological Improvement Completed NCT00221091 Phase 2
18 International Infant Hydrocephalus Study: A Multicentre, Prospective Study Completed NCT00652470 Phase 2
19 Effect of Intraventricular tPA Following Aneurysmal Subarachnoid Hemorrhage Withdrawn NCT01878136 Phase 1, Phase 2 Tissue Plasminogen Activator
20 Blood-Brain Barrier Penetration of Therapeutic Agents in Human - an Exploratory Repeated Dose Pharmacokinetic Study in Patients With Idiopathic Normal Pressure Hydrocephalus Treated With Cerebroventricular Shunting Recruiting NCT04571996 Phase 1 ODM-104;Paracetamol
21 CRT ShuntCheck "Fit & Function" Exploratory Study Unknown status NCT02067364
22 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
23 Benefit of Flow Magnetic Resonance Imaging in the Management of Normal Pressure Hydrocephalus Unknown status NCT01909960
24 The Brain Structure and Neural Network Changing the Before and After Ventriculo-peritoneal Shunting in the Normal Pressure Hydrocephalus Patients Unknown status NCT03092804
25 European Multicenter Study on the Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT00874198
26 Endoscopic Third Ventriculostomy Versus Ventriculo-peritoneal Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT03245138
27 Computerised Testing of Cognitive Response to Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT01618500
28 Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasonography Before and After Drainage of Cerebrospinal Fluid in Pediatric Patient With Hydrocephalus Unknown status NCT01865149
29 Multimodal Investigation in the Diagnosis and Treatment of Chronic Adult Hydrocephalus Unknown status NCT02278848
30 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
31 Brain Ultrasound in the Weaning of External Ventricular Leads Unknown status NCT03531723
32 Tablet-guided Versus Freehand (Tab-Guide) Ventriculostomy : Study Protocol to the Test Accuracy of Ventriculostomy in a Randomized Controlled Trial Unknown status NCT02048553
33 Physician Preference Study of the Utility of ShuntCheck to Detect Cerebrospinal Fluid (CSF) in Patients With Ventriculo-Peritoneal CSF Shunts Unknown status NCT00583336
34 An Open-Label, Non-Randomized, Comparative Study Designed to Evaluate the Accuracy and Safety of HS-1000 Device, a Non-Invasive Brain Monitor Unknown status NCT02775136
35 Transitional Care Services: A Quality and Safety Process Improvement Programme in Neurosurgery Unknown status NCT03593330
36 Prospective Follow-up of a Multicentric Cohort of Children With Prenatal Discovery of Mild Isolated Cerebral Ventriculomegaly. Evaluation at 2 and 5 Years. Unknown status NCT00421772
37 Use of Targeted Quantitative Proteomics and Metabolic Labelling With Stable Isotopes for the Diagnosis and the Investigation of Neurological Disorders and in Particular Alzheimer Disease Unknown status NCT02263235
38 The Prediction of Intracranial Pressure and Clinical Outcome by Transcranial Doppler in Neurocritical Patients Unknown status NCT00886054
39 Investigating the Efficacy of Simulation Curricula in Neurosurgical Education Unknown status NCT02988154
40 Cerebrospinal Fluid Proteome in Hydrocephalus Completed NCT02016352
41 Phase II Study of Late- Versus Early Treatment of Post-hemorrhagic Ventricular Dilation in Preterm Infants. Completed NCT00875758
42 Are Intracranial Pressure Waves Measurable Through Lumbar Puncture? Completed NCT01374048
43 Novel Infusion Method for Describing CSF Dynamics Completed NCT01319136
44 Prognostic Value of Transforming Growth Factor-Beta 1 in Normal Pressure Hydrocephalus Completed NCT00600795
45 A Study Comparing Shunt Placement Versus Endoscopic Third Ventriculostomy in the Treatment of Hydrocephalus Completed NCT01115270
46 Effects of Physical Training in Shunt-operated Patients With Idiopathic Normal Pressure Hydrocephalus Completed NCT02659111
47 Evaluation of a Computerised Neuropsychological Test Battery for Idiopathic Normal Pressure Hydrocephalus (INPH) Completed NCT01265251
48 Vascular Risk Factors, Subclinical and Manifest Vascular Disease in Patients With Idiopathic Normal Pressure Hydrocephalus Completed NCT01850914
49 Predictive Value of Flow MRI in Normal Pressure Hydrocephalus Surgery Completed NCT01815775 Early Phase 1
50 Normal Pressure Hydrocephalus (NPH) Registry Completed NCT00233701

Search NIH Clinical Center for Hydrocephalus

Cochrane evidence based reviews: hydrocephalus

Genetic Tests for Hydrocephalus

Genetic tests related to Hydrocephalus:

# Genetic test Affiliating Genes
1 Hydrocephalus 29

Anatomical Context for Hydrocephalus

MalaCards organs/tissues related to Hydrocephalus:

40
Brain, Pineal, Spinal Cord, Pituitary, Cortex, Cerebellum, Eye
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 25600)
# Title Authors PMID Year
1
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. 61 6
29225145 2018
2
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. 61 6
23042809 2012
3
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 6 61
21031079 2010
4
Gravitational shunt valves in hydrocephalus to challenge the sequelae of over-drainage. 61 42
33176494 2020
5
Placement of an External Ventricular Drain. 42
33497549 2021
6
Dandy-Walker Malformation. 42
33168220 2020
7
Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. 61 54
20490765 2010
8
A novel L1CAM mutation in a fetus detected by prenatal diagnosis. 61 54
19685344 2010
9
L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. 61 54
19641926 2009
10
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). 54 61
19300444 2009
11
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. 54 61
18485929 2008
12
The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules. 61 54
17683645 2007
13
L1CAM mutation in a boy with hydrocephalus and duplex kidneys. 61 54
17294222 2007
14
Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. 54 61
17486624 2007
15
Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish. 54 61
17394468 2007
16
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 54 61
17318848 2007
17
Hydin seek: finding a function in ciliary motility. 61 54
17296793 2007
18
Aquaporin 4 and hydrocephalus. 61 54
17184077 2006
19
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. 61 54
17328266 2006
20
Biomarkers in chronic adult hydrocephalus. 61 54
17020616 2006
21
A novel domain suggests a ciliary function for ASPM, a brain size determining gene. 61 54
16443634 2006
22
[Brain edema and aquaporin]. 54 61
16313100 2005
23
A novel L1CAM mutation with L1 spectrum disorders. 61 54
15662685 2005
24
Subependymal giant cell tumors in tuberous sclerosis complex. 54 61
15505165 2004
25
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. 61 54
15165674 2004
26
Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. 61 54
15108295 2004
27
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. 61 54
15148591 2004
28
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 61 54
12588800 2003
29
X-linked hydrocephalus: another two families with an L1 mutation. 61 54
12725590 2003
30
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons. 61 54
12442287 2002
31
X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. 54 61
12435569 2002
32
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes. 61 54
11968085 2002
33
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 61 54
11857550 2002
34
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 61 54
11772994 2002
35
Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases. 61 54
11787037 2001
36
Elevated nerve growth factor and neurotrophin-3 levels in cerebrospinal fluid of children with hydrocephalus. 61 54
11580868 2001
37
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. 54 61
11438988 2001
38
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 61 54
10797421 2000
39
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. 54 61
9832035 1998
40
The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. 61 54
9635428 1998
41
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 54 61
9643285 1998
42
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. 54 61
9521424 1998
43
Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree. 54 61
9452098 1998
44
Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus. 61 54
9450886 1998
45
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. 61 54
9440802 1997
46
Neurotrophin-3 levels in the cerebrospinal fluid of patients with schizophrenia or medical illness. 61 54
9463844 1997
47
Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. 61 54
9279760 1997
48
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. 61 54
9268105 1997
49
Overexpression of nestin and vimentin in the ependyma of spinal cords from hydrocephalic infants. 54 61
9061685 1997
50
A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus. 61 54
9088116 1996

Variations for Hydrocephalus

ClinVar genetic disease variations for Hydrocephalus:

6 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC88C NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs) Deletion Pathogenic 623482 rs1567043467 14:91739790-91739791 14:91273446-91273447
2 CCDC88C NM_001080414.4(CCDC88C):c.5058+1G>A SNV Pathogenic 39860 rs387907320 14:91744265-91744265 14:91277921-91277921
3 CCDC88C NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) SNV Pathogenic 39861 rs369384363 14:91804465-91804465 14:91338121-91338121
4 CCDC88C NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) Deletion Pathogenic 39862 rs387907321 14:91739214-91739215 14:91272870-91272871
5 CCDC88C NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) Duplication Pathogenic 918058 14:91875017-91875018 14:91408673-91408674
6 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775) copy number gain Pathogenic 523237 1:12019879-12028775
7 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) SNV Pathogenic 374077 rs1057518879 1:12025628-12025628 1:11965571-11965571
8 PDGFRB NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) SNV Pathogenic 375682 rs1060499542 5:149505119-149505119 5:150125556-150125556
9 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely pathogenic 632604 rs1569234334 X:69549270-69549270 X:70329420-70329420
10 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) Duplication Likely pathogenic 632606 rs1563406024 8:28413316-28413317 8:28555799-28555800
11 NID1 NM_002508.3(NID1):c.3385+1G>A SNV Likely pathogenic 183319 rs730882225 1:236143795-236143795 1:235980495-235980495
12 DPH1 NM_001383.4(DPH1):c.701T>C (p.Leu234Pro) SNV Likely pathogenic 183359 rs730882250 17:1943054-1943054 17:2039760-2039760
13 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV Likely pathogenic 13271 rs121918494 10:123276877-123276877 10:121517363-121517363
14 ARFGEF2 NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) Duplication Likely pathogenic 183282 rs730882200 20:47570141-47570142 20:48953604-48953605
15 KIAA1109 NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) SNV Likely pathogenic 183349 rs730882245 4:123128323-123128323 4:122207168-122207168
16 TMEM92 NM_153229.3(TMEM92):c.95+3A>G SNV Likely pathogenic 183355 rs730882247 17:48355104-48355104 17:50277743-50277743
17 CCDC88C NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys) SNV Uncertain significance 930883 14:91739775-91739775 14:91273431-91273431
18 DOCK6 NM_020812.4(DOCK6):c.934C>T (p.His312Tyr) SNV Uncertain significance 374251 rs370838036 19:11356328-11356328 19:11245652-11245652
19 CCDC88C NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) SNV Uncertain significance 444336 rs201940261 14:91739030-91739030 14:91272686-91272686
20 CCDC88C NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) SNV Uncertain significance 447019 rs201414940 14:91749724-91749724 14:91283380-91283380
21 CCDC88C NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) SNV Uncertain significance 447015 rs200650758 14:91779767-91779767 14:91313423-91313423
22 CCDC88C NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) SNV Uncertain significance 376980 rs200769097 14:91806262-91806262 14:91339918-91339918
23 CCDC88C NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln) SNV Uncertain significance 634447 rs372168003 14:91779758-91779758 14:91313414-91313414
24 CCDC88C NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) SNV Uncertain significance 155879 rs587782989 14:91787600-91787600 14:91321256-91321256
25 CCDC88C NM_001080414.4(CCDC88C):c.161+5G>A SNV Uncertain significance 918055 14:91883077-91883077 14:91416733-91416733
26 CCDC88C NM_001080414.4(CCDC88C):c.3539G>A (p.Arg1180Gln) SNV Uncertain significance 587522 rs1166585047 14:91770141-91770141 14:91303797-91303797
27 CCDC88C NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) SNV Uncertain significance 587642 rs142295786 14:91739805-91739805 14:91273461-91273461
28 KCNT1 NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) SNV Uncertain significance 451447 rs537722828 9:138660680-138660680 9:135768834-135768834
29 CCDC88C NM_001080414.4(CCDC88C):c.1050+9C>T SNV Likely benign 518258 rs372411289 14:91804340-91804340 14:91337996-91337996

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:

# Super pathways Score Top Affiliating Genes
1 11.42 TRIM71 PDGFRB FZD3 CCND2

GO Terms for Hydrocephalus

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.56 HYDIN FZD3 FOXC1 CFAP43
2 multicellular organism development GO:0007275 9.5 TRIM71 PDGFRB L1CAM HYDIN FZD3 FOXC1
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.37 FOXC1 FGFR2
4 non-canonical Wnt signaling pathway GO:0035567 9.32 FZD3 CCDC88C
5 mesenchymal cell differentiation GO:0048762 9.16 FOXC1 FGFR2
6 lacrimal gland development GO:0032808 8.62 FOXC1 FGFR2

Sources for Hydrocephalus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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