MCID: CNG216
MIFTS: 50

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 52 58 36 54 6 32
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 71
Hydrocephalus Adverse Event 71
Hydrocephalus 71

Characteristics:

Orphanet epidemiological data:

58
congenital hydrocephalus
Prevalence: 6-9/10000 (United States),1-5/10000 (Europe);

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H01677
ICD10 32 Q03 Q03.9
ICD10 via Orphanet 33 Q03.0 Q03.1 Q03.8 more
UMLS via Orphanet 72 C0020256
Orphanet 58 ORPHA2185
UMLS 71 C0020255 C1963137 C3887608

Summaries for Congenital Hydrocephalus

NIH Rare Diseases : 52 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, nonsyndromic, autosomal recessive 1, is related to hydrocephalus and dandy-walker syndrome, 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 bone, and related phenotypes are hydrocephalus and macrocephaly

KEGG : 36 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 186)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 29.9 STK36 MPDZ L1CAM FOXC1 CCDC88C
2 dandy-walker syndrome 29.7 MPDZ FOXC1 CCDC88C
3 hydrocephalus, congenital, 1 12.2
4 hydrocephalus obesity hypogonadism 11.9
5 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.6
6 normal pressure hydrocephalus 11.4
7 hydrocephalus, congenital, 3, with brain anomalies 11.4
8 congenital communicating hydrocephalus 10.8
9 hydrocephalus with stenosis of the aqueduct of sylvius 10.7
10 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.4
11 neural tube defects 10.4
12 hydrocephalus, autosomal dominant 10.2
13 isolated dandy-walker malformation without hydrocephalus 10.2
14 isolated dandy-walker malformation with hydrocephalus 10.2
15 blake pouch cyst 10.2
16 myelomeningocele 10.2
17 obstructive hydrocephalus 10.1
18 communicating hydrocephalus 10.1
19 walker-warburg syndrome 10.0
20 toxoplasmosis 10.0
21 chiari malformation 10.0
22 anencephaly 9.9
23 chiari malformation type ii 9.9
24 masa syndrome 9.9
25 ataxia and polyneuropathy, adult-onset 9.9
26 mumps 9.9
27 squamous cell papilloma 9.9
28 papilloma 9.9
29 teratoma 9.9
30 holoprosencephaly 9.9
31 hydranencephaly 9.9
32 chromosomal triplication 9.9
33 achondroplasia 9.8
34 coloboma of macula 9.8
35 factor viii deficiency 9.8
36 hypertelorism 9.8
37 down syndrome 9.8
38 arachnoid cysts, intracranial 9.8
39 cryptorchidism, unilateral or bilateral 9.8
40 hypervitaminosis a 9.8
41 hemophilia a 9.8
42 fryns microphthalmia syndrome 9.8
43 aceruloplasminemia 9.8
44 intraocular pressure quantitative trait locus 9.8
45 helix syndrome 9.8
46 pre-eclampsia 9.8
47 visual epilepsy 9.8
48 lymphocytic choriomeningitis 9.8
49 oligohydramnios 9.8
50 congenital toxoplasmosis 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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
2 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
3 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
6 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
9 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
10 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
11 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
12 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
13 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
14 small cerebral cortex 58 31 frequent (33%) Frequent (79-30%) HP:0002472
15 colpocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0030048
16 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
17 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
18 abnormal heart morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001627
19 lissencephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001339
20 macular hypoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0001104
21 abnormal cortical gyration 58 Frequent (79-30%)

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.8 FOXC1 L1CAM STK36

Drugs & Therapeutics for Congenital Hydrocephalus

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

(show top 50) (show all 179)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6 Pharmaceutical Solutions Phase 4
7 Serotonin Uptake Inhibitors Phase 4
8 Muscarinic Antagonists Phase 4
9 Serotonin Agents Phase 4
10 Cholinergic Agents Phase 4
11 Cholinergic Antagonists Phase 4
12 Serotonin Receptor Agonists Phase 4
13 Anesthetics, Dissociative Phase 4
14 Excitatory Amino Acids Phase 4
15 Excitatory Amino Acid Antagonists Phase 4
16 Anesthetics Phase 4
17 Neurotransmitter Agents Phase 4
18 Adrenergic Agonists Phase 4
19 Hypnotics and Sedatives Phase 4
20 Adrenergic alpha-2 Receptor Agonists Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Anesthetics, General Phase 4
23 Central Nervous System Depressants Phase 4
24 Adrenergic Agents Phase 4
25 Analgesics Phase 4
26 Anesthetics, Intravenous Phase 4
27
Glycopyrrolate Phase 4 596-51-0 3494
28
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
29
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
30
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
31
Rifampicin Approved Phase 3 13292-46-1 5458213 5381226
32
Sodium citrate Approved, Investigational Phase 3 68-04-2
33
Caffeine Approved Phase 3 58-08-2 2519
34
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
35
Simvastatin Approved Phase 2, Phase 3 79902-63-9 54454
36
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
37
Aspirin Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
38
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
39
Guaifenesin Approved, Investigational, Vet_approved Phase 2, Phase 3 93-14-1 3516
40
Naproxen Approved, Vet_approved Phase 2, Phase 3 22204-53-1 1302 156391
41
Codeine Approved, Illicit Phase 2, Phase 3 76-57-3 5284371
42
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
43
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
44
Tranexamic Acid Approved Phase 2, Phase 3 1197-18-8 5526
45
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
46
Remifentanil Approved Phase 3 132875-61-7 60815
47
Isoflurane Approved, Vet_approved Phase 3 26675-46-7 3763
48
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
49 Flutemetamol Investigational Phase 3 637003-10-2
50 Anti-Infective Agents, Local Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 231)
# 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
8 EFFICACY OF KETAMINE-PROPOFOL COMBINATION FOR SHORT SURGICAL PROCEDURES Completed NCT01651988 Phase 4 Ketamina-Propofol Combination
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 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
16 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
17 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
18 Baskent University Institutional Review Board Completed NCT02325583 Phase 3 30% Glucose;Midazolam
19 The Impact of Ventricular Catheter Impregnated With Antimicrobial Agents on Infection in Patients With Ventricular Catheter: A Prospective Randomized Study Completed NCT00286104 Phase 3
20 High Versus Low Dose of Caffeine for Apnea of Prematurity: A Double Blind Randomized Control Trial Completed NCT02103777 Phase 3 Caffeine citrate
21 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
22 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Completed NCT02651337 Phase 3
23 EARLYdrain - Prospective Outcome Study of Early Lumbar Drainage in Aneurysmal Subarachnoid Hemorrhage Completed NCT01258257 Phase 3
24 High-dose Simvastatin for Aneurysmal Subarachnoid Haemorrhage: Is it Better? Completed NCT01077206 Phase 2, Phase 3 Simvastatin
25 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
26 Intraventricular Fibrinolysis Versus External Ventricular Drainage Alone in Aneurysmal Subarachnoid Hemorrhage: a Randomized Controlled Trial. Recruiting NCT03187405 Phase 3 EVD + IVF with Alteplase
27 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
28 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
29 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
30 A Randomized Controlled Trial of Anterior Versus Posterior Entry Site for Cerebrospinal Fluid Shunt Insertion Active, not recruiting NCT02425761 Phase 3
31 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
32 Preterm Erythropoietin Neuroprotection Trial (PENUT Trial) Active, not recruiting NCT01378273 Phase 3 Epo
33 Ultra-early Tranexamic Acid After Subarachnoid Hemorrhage. A Prospective, Randomized, Multicenter Study. Active, not recruiting NCT02684812 Phase 2, Phase 3 Tranexamic Acid
34 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
35 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
36 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
37 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
38 Comparison of Ceftazidime Pharmacokinetic in Cerebrospinal Fluid Between Continuous and Intermittent Administration Unknown status NCT00752882 Phase 2 ceftazidime
39 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
40 Clinical Study of Idiopathic Normal Pressure Hydrocephalus for Neurological Improvement Completed NCT00221091 Phase 2
41 International Infant Hydrocephalus Study: A Multicentre, Prospective Study Completed NCT00652470 Phase 2
42 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
43 Lumbar Drainage of Cerebrospinal Fluid in Aneurysmal Subarachnoid Haemorrhage: A Prospective Randomised Controlled Trial Completed NCT00842049 Phase 2
44 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
45 Acetazolamide for Treating NPH in Shunt-candidates Patients: an Open Label Feasibility Trial Recruiting NCT03779594 Phase 2 Acetazolamide
46 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
47 An Open-label Non-randomized Phase IIa Trial to Evaluate Safety of Early Intervention in Asymptomatic Subarachnoid Neurocysticercosis Not yet recruiting NCT03950037 Phase 2 Albendazole
48 Deferiprone Trial for Subarachnoid Hemorrhage (SAH) Patients Not yet recruiting NCT03754725 Phase 2 Deferiprone pill;placebo
49 Weaning by Early Versus lAte Tracheostomy iN supratentorIal iNtracerebral Bleedings Terminated NCT01176214 Phase 2
50 Pilot Study of mTOR Inhibitor Therapy for Treatment of Intestinal Polyps in Peutz-Jeghers Syndrome Terminated NCT00811590 Phase 2 Everolimus

Search NIH Clinical Center for Congenital Hydrocephalus

Genetic Tests for Congenital Hydrocephalus

Anatomical Context for Congenital Hydrocephalus

MalaCards organs/tissues related to Congenital Hydrocephalus:

40
Brain, Testes, Bone, Spinal Cord, Heart, Cortex, Pituitary

Publications for Congenital Hydrocephalus

Articles related to Congenital Hydrocephalus:

(show top 50) (show all 841)
# Title Authors PMID Year
1
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. 61 6
29225145 2018
2
The genetic landscape of familial congenital hydrocephalus. 61 6
28556411 2017
3
Mutation in MPDZ causes severe congenital hydrocephalus. 61 6
23240096 2013
4
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. 61 6
23042809 2012
5
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 6
21031079 2010
6
Expanding the phenotypic spectrum of L1CAM-associated disease. 54 61
16650080 2006
7
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 54 61
11857550 2002
8
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 54 61
10797421 2000
9
Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus. 54 61
10632110 2000
10
A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus. 54 61
9088116 1996
11
Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China. 61
31955435 2020
12
Histologic Appearance of Iatrogenic Obstructive Hydrocephalus in the Fetal Lamb Model. 61
30974442 2020
13
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. 61
31833209 2019
14
GemC1 is a critical switch for neural stem cell generation in the postnatal brain. 61
31328313 2019
15
Iatrogenic cerebral abscess leading to resolution of severe delusional disorder. 61
31796437 2019
16
Impaired neural differentiation and glymphatic CSF flow in the Ccdc39 rat model of neonatal hydrocephalus: genetic interaction with L1cam. 61
31771992 2019
17
Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis. 61
31256740 2019
18
Sterile cerebrospinal fluid ascites presenting as high SAAG ascites: a case report. 61
31775655 2019
19
Tale of a mermaid. 61
31611453 2019
20
Altered folate binding protein expression and folate delivery are associated with congenital hydrocephalus in the hydrocephalic Texas rat. 61
29798726 2019
21
The RNA hairpin binder TRIM71 modulates alternative splicing by repressing MBNL1. 61
31371437 2019
22
[Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene]. 61
31515785 2019
23
Intracisternal BioGlue injection in the fetal lamb: a novel model for creation of obstructive congenital hydrocephalus without additional chemically induced neuroinflammation. 61
31561226 2019
24
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. 61
31393094 2019
25
Strabismus in hydrocephalus patients. 61
31115645 2019
26
Functional loss of Ccdc151 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia. 61
31383820 2019
27
Trocar assisted distal shunt tube insertion with intra-operative X-Ray confirmation. 61
30836022 2019
28
DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction. 61
31268831 2019
29
Feasibility of fast brain diffusion MRI to quantify white matter injury in pediatric hydrocephalus. 61
31323624 2019
30
In silico method for identification of novel copper and iron metabolism proteins in various neurodegenerative disorders. 61
30831127 2019
31
Economic benefit of neurosurgical intervention for infant hydrocephalus in Haiti. 61
31277055 2019
32
AQP1 Overexpression in the CSF of Obstructive Hydrocephalus and Inversion of Its Polarity in the Choroid Plexus of a Chiari Malformation Type II Case. 61
31039249 2019
33
Trim71/lin-41 Links an Ancient miRNA Pathway to Human Congenital Hydrocephalus. 61
30975633 2019
34
Comparative study of intracisternal kaolin injection techniques to induce congenital hydrocephalus in fetal lamb. 61
30805823 2019
35
An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. 61
30726525 2019
36
Pregnancy outcomes in patients with multiple sclerosis treated with teriflunomide: Clinical study data and 5 years of post-marketing experience. 61
30968734 2019
37
Results of oral prednisolone administration or ventriculoperitoneal shunt placement in dogs with congenital hydrocephalus: 40 cases (2005-2016). 61
30888275 2019
38
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. 61
30996265 2019
39
Complications associated with ventriculoperitoneal shunts in dogs and cats with idiopathic hydrocephalus: A systematic review. 61
30747447 2019
40
Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2. 61
30705458 2019
41
The Impact of Prenatal Diagnosis of Selected Central Nervous System Anomalies for Prenatal Counselling Based on Significant Pregnancy Morbidity and Neonatal Outcomes. 61
30316708 2019
42
Drug-related teratogenic and pathologic causes of birth defects in a tertiary hospital in Southwestern Nigeria. 61
30766684 2019
43
The Trp73 Mutant Mice: A Ciliopathy Model That Uncouples Ciliogenesis From Planar Cell Polarity. 61
30930930 2019
44
A brainstem mass of Müllerian type Epithelial Origin without any primary cancer source. 61
30337125 2019
45
Comparative Study Between Laparoscopic and Open Techniques for Insertion of Ventriculperitoneal Shunt for Treatment of Congenital Hydrocephalus. 61
30307809 2019
46
Ligneous conjunctivitis in a Dandy-Walker syndrome: A rare case report. 61
30574926 2019
47
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3. 61
31616254 2019
48
Outcome Analysis of Patients of Congenital Hydrocephalus with Ventriculoperitoneal Shunt at a Tertiary Care Hospital in North India. 61
31291639 2019
49
Murine MPDZ-linked hydrocephalus is caused by hyperpermeability of the choroid plexus. 61
30518636 2019
50
A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension. 61
30483960 2019

Variations for Congenital Hydrocephalus

ClinVar genetic disease variations for Congenital Hydrocephalus:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPDZ NM_003829.5(MPDZ):c.4171C>T (p.Arg1391Ter)SNV Likely pathogenic 667381 9:13137985-13137985 9:13137986-13137986
2 TRIM71 NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)SNV Likely pathogenic 684689 3:32932582-32932582 3:32891090-32891090
3 TRIM71 NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln)SNV Likely pathogenic 684688 3:32933146-32933146 3:32891654-32891654
4 SMARCC1 NM_003074.4(SMARCC1):c.2672del (p.Lys891fs)deletion Likely pathogenic 684692 3:47663806-47663806 3:47622316-47622316
5 SMARCC1 NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)insertion Likely pathogenic 684690 3:47718254-47718255 3:47676764-47676765
6 SMARCC1 NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro)SNV Likely pathogenic 684691 3:47718267-47718267 3:47676777-47676777
7 SMARCC1 NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)duplication Likely pathogenic 684694 3:47730896-47730897 3:47689406-47689407
8 SMARCC1 NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)SNV Likely pathogenic 684693 3:47777565-47777565 3:47736075-47736075
9 NC_000005.9:g.154735732_155604899dupduplication Likely pathogenic 684697
10 LOC100507346 , PTCH1 NM_001083602.2(PTCH1):c.1793_1799del (p.Leu598fs)deletion Likely pathogenic 684696 9:98231286-98231292 9:95469004-95469010
11 PTCH1 NM_001083602.2(PTCH1):c.258_259del (p.Met86fs)deletion Likely pathogenic 684695 9:98248094-98248095 9:95485812-95485813
12 NC_000005.9:g.155599390_155755985dupduplication Likely pathogenic 684721
13 NC_000005.9:g.170591818_170713790dupduplication Uncertain significance 684722
14 NC_000005.9:g.170814836_171100000dupduplication Uncertain significance 684723
15 NC_000005.9:g.172068277_172342131dupduplication Uncertain significance 684725
16 PTCH1 NM_001083602.2(PTCH1):c.1305+3A>GSNV Uncertain significance 237456 rs878853846 9:98239826-98239826 9:95477544-95477544
17 NC_000005.10:g.62435874_62439121dupduplication Uncertain significance 684698

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:

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

Pathways related to Congenital Hydrocephalus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.25 L1CAM FOXC1

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 brain development GO:0007420 9.16 STK36 FOXC1
2 multicellular organism development GO:0007275 9.13 STK36 L1CAM FOXC1
3 cell migration GO:0016477 8.62 L1CAM FOXC1

Sources for Congenital Hydrocephalus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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