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HYC1
MCID: HYD064
MIFTS: 54

Hydrocephalus, Congenital, 1 (HYC1)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Hydrocephalus, Congenital, 1

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MalaCards integrated aliases for Hydrocephalus, Congenital, 1:

Name: Hydrocephalus, Congenital, 1 57 73 38
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 28 5 71
Ventriculomegaly 57 73 5
Hydrocephaly 57 73 38
Congenital Non-Communicating Hydrocephalus 58 28
Hyc1 57 73
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly 57
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 73
Congenital Obstructive Hydrocephalus 58
Hydrocephalus 71

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in utero
one patient with normal psychomotor development has been reported (last curated december 2012)


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 236600
OMIM Phenotypic Series 57 PS236600
MeSH 43 D006849
ICD10 via Orphanet 32 Q03.1 Q03.8
Orphanet 58 ORPHA269510
UMLS 71 C0020255 C3887608
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Summaries for Hydrocephalus, Congenital, 1

About this section

OMIM®: 57 Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). (236600) (Updated 08-Dec-2022)

MalaCards based summary: Hydrocephalus, Congenital, 1, also known as hydrocephalus, nonsyndromic, autosomal recessive 1, is related to dandy-walker syndrome and corpus callosum, agenesis of, and has symptoms including tremor, back pain and headache. An important gene associated with Hydrocephalus, Congenital, 1 is CCDC88C (Coiled-Coil Domain Containing 88C). The drugs Propofol and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include brain, pituitary and fetal brain, and related phenotypes are intellectual disability and seizure

UniProtKB/Swiss-Prot: 73 A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYC1 inheritance is autosomal recessive.
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Related Diseases for Hydrocephalus, Congenital, 1

About this section

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, Congenital, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 474)
# Related Disease Score Top Affiliating Genes
1 dandy-walker syndrome 30.5 SETD2 CCDC88C
2 corpus callosum, agenesis of 29.5 SETD2 MED12 ARX
3 polymicrogyria 29.1 TUBB POMT1 OFD1 ATP1A3
4 lissencephaly 28.8 TUBB POMT1 OFD1 ARX
5 ventriculomegaly with cystic kidney disease 11.7
6 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 11.6
7 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 11.5
8 hydrocephalus with associated malformations 11.5
9 ventriculomegaly and arthrogryposis 11.4
10 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.4
11 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.4
12 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.2
13 vacterl hydrocephaly 11.2
14 hydrocephalus with cerebellar agenesis 11.1
15 palmer pagon syndrome 11.1
16 vacterl association with hydrocephaly, x-linked 11.1
17 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.1
18 hydrolethalus syndrome 2 11.1
19 tenorio syndrome 11.1
20 spina bifida hypospadias 11.1
21 infantile spasms broad thumbs 11.1
22 hydrocephalus 11.0
23 congenital hydrocephalus 11.0
24 brain malformations with or without urinary tract defects 11.0
25 ventriculomegaly with defects of the radius and kidney 11.0
26 deafness, dystonia, and cerebral hypomyelination 11.0
27 fumarase deficiency 11.0
28 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.0
29 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 11.0
30 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.0
31 cleft palate, proliferative retinopathy, and developmental delay 11.0
32 ring chromosome 6 11.0
33 hordnes engebretsen knudtson syndrome 11.0
34 normal pressure hydrocephalus 11.0
35 enamel hypoplasia cataract hydrocephaly 10.9
36 growth retardation hydrocephaly lung hypoplasia 10.9
37 congenital disorder of glycosylation, type iid 10.9
38 microphthalmia, syndromic 12 10.9
39 marfanoid-progeroid-lipodystrophy syndrome 10.9
40 combined oxidative phosphorylation deficiency 6 10.9
41 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.9
42 joubert syndrome 9 10.8
43 diencephalic-mesencephalic junction dysplasia 10.8
44 teebi hypertelorism syndrome 1 10.8
45 cerebral-cerebellar-coloboma syndrome, x-linked 10.8
46 multiple congenital anomalies-neurodevelopmental syndrome, x-linked 10.8
47 fryns microphthalmia syndrome 10.8
48 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 10.8
49 bohring-opitz syndrome 10.8
50 combined oxidative phosphorylation deficiency 2 10.8

Graphical network of the top 20 diseases related to Hydrocephalus, Congenital, 1:



Diseases related to Hydrocephalus, Congenital, 1
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Symptoms & Phenotypes for Hydrocephalus, Congenital, 1

About this section

Human phenotypes related to Hydrocephalus, Congenital, 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 seizure 30 HP:0001250
3 hydrocephalus 30 HP:0000238
4 ventriculomegaly 30 HP:0002119

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hydrocephalus
seizures
enlarged ventricles
mental retardation
poor motor development

Clinical features from OMIM®:

236600 (Updated 08-Dec-2022)

UMLS symptoms related to Hydrocephalus, Congenital, 1:


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

MGI Mouse Phenotypes related to Hydrocephalus, Congenital, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ALDH7A1 ARX ATP1A3 CCDC88C CDK8 KIF7
2 growth/size/body region MP:0005378 9.9 ARX ATP1A3 CCDC88C CDK8 KIF7 MAGEL2
3 cellular MP:0005384 9.61 ALDH7A1 ARX CCDC88C CDK8 KIF7 MAGEL2
4 mortality/aging MP:0010768 9.36 ALDH7A1 ARX ATP1A3 CDK8 KIF7 MAGEL2
Sources

Drugs & Therapeutics for Hydrocephalus, Congenital, 1

About this section

Drugs for Hydrocephalus, Congenital, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 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
Glycopyrronium Approved, Investigational, Vet_approved Phase 4 596-51-0, 740028-90-4 3494
6
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
7 Neurotransmitter Agents Phase 4
8 Anesthetics, Intravenous Phase 4
9 Anesthetics, General Phase 4
10 Pharmaceutical Solutions Phase 4
11 Anesthetics Phase 4
12 Hypnotics and Sedatives Phase 4
13 Analgesics Phase 4
14 Analgesics, Non-Narcotic Phase 4
15 Adrenergic alpha-Agonists Phase 4
16 Adrenergic Agonists Phase 4
17 Adrenergic Agents Phase 4
18 Anesthetics, Inhalation Phase 4
19 Anti-Arrhythmia Agents Phase 4
20 Sodium Channel Blockers Phase 4
21 Anesthetics, Local Phase 4
22 Platelet Aggregation Inhibitors Phase 4
23 Muscarinic Antagonists Phase 4
24 Cholinergic Antagonists Phase 4
25 Cholinergic Agents Phase 4
26 Diuretics, Potassium Sparing Phase 4
27
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
28
Rifampicin Approved Phase 3 13292-46-1 135512673 5381226 135900090
29
Clindamycin Approved, Vet_approved Phase 3 18323-44-9, 24729-96-2 29029
30
Acetazolamide Approved, Vet_approved Phase 3 59-66-5, 1424-27-7 1986
31
Isoflurane Approved, Vet_approved Phase 3 26675-46-7 3763
32
Remifentanil Approved Phase 3 132875-61-7 60815
33 Flutemetamol Investigational Phase 3 637003-10-2
34 Anti-Anxiety Agents Phase 3
35 Psychotropic Drugs Phase 3
36 GABA Modulators Phase 3
37
Clindamycin phosphate Phase 3 32603
38 Clindamycin palmitate Phase 3
39 Carbonic Anhydrase Inhibitors Phase 3
40 Anticonvulsants Phase 3
41 diuretics Phase 3
42 Radiopharmaceuticals Phase 3
43 Liver Extracts Phase 2
44
Acetaminophen Approved Phase 1 103-90-2 1983
45
Coal tar Approved Phase 1 8007-45-2
46
Nafcillin Approved, Investigational Phase 1 985-16-0, 147-52-4 8982
47
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
48 Antipyretics Phase 1
49 Antibiotics, Antitubercular Phase 1
50 Anti-Bacterial Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 167)
# 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 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
3 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
4 Accuracy of ShuntCheck and MRI in Detection of Shunt Obstruction in Patients Receiving Shunt Patency Test Withdrawn NCT00793416 Phase 4
5 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]
6 A Randomized Controlled Trial of Anterior Versus Posterior Entry Site for Cerebrospinal Fluid Shunt Insertion Unknown status NCT02425761 Phase 3
7 Baskent University Institutional Review Board Completed NCT02325583 Phase 3 30% Glucose;Midazolam
8 A Precision and Accuracy Study of the Codman Valve Position Verification (VPV) System. Completed NCT00196196 Phase 3
9 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
10 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
11 The Impact of Ventricular Catheter Impregnated With Antimicrobial Agents on Infection in Patients With Ventricular Catheter: A Prospective Randomized Study Completed NCT00286104 Phase 3
12 Endoscopic Versus Shunt Treatment of Hydrocephalus in Infants Recruiting NCT04177914 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 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
15 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
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 Double-blind Randomized Acetazolamide Trial in Normal Pressure Hydrocephalus Recruiting NCT04975269 Phase 2 Acetazolamide;Placebo
20 Clinical Study on Improvement of Peritoneal Catheter Placement in Ventriculoperitoneal Shunt Surgery With a Splitable Trocar Recruiting NCT05476874 Phase 1, Phase 2
21 Effect of Intraventricular tPA Following Aneurysmal Subarachnoid Hemorrhage Withdrawn NCT01878136 Phase 1, Phase 2 Tissue Plasminogen Activator
22 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 Completed NCT04571996 Phase 1 ODM-104;Paracetamol
23 Are Long Term Prophylactic Antibiotics Useful With Antibiotic Impregnated External Ventricular Drains (EVDs)? Active, not recruiting NCT05001750 Phase 1 long term prophylactic antibiotics (Nafcillin or Doxycycline)
24 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
25 The Brain Structure and Neural Network Changing the Before and After Ventriculo-peritoneal Shunting in the Normal Pressure Hydrocephalus Patients Unknown status NCT03092804
26 Effect of Depletive Lumbar Puncture and Cerebrospinal Fluid Shunt Surgery on Lower Urinary Tract Dysfunction in Normal Pressure Hydrocephalus Unknown status NCT03877107
27 Benefit of Flow Magnetic Resonance Imaging in the Management of Normal Pressure Hydrocephalus Unknown status NCT01909960
28 Computerised Testing of Cognitive Response to Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT01618500
29 European Multicenter Study on the Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus Unknown status NCT00874198
30 Endoscopic Third Ventriculostomy Versus Ventriculo-peritoneal Shunting in Idiopathic Normal Pressure Hydrocephalus Unknown status NCT03245138
31 Multimodal Investigation in the Diagnosis and Treatment of Chronic Adult Hydrocephalus Unknown status NCT02278848
32 Comparison of Optic Nerve Sheath Diameter on Retrobulbar Ultrasonography Before and After Drainage of Cerebrospinal Fluid in Pediatric Patient With Hydrocephalus Unknown status NCT01865149
33 Proteomics of Cerebrospinal Fluid of Preterm Infants With Posthemorrhagic Hydrocephalus With Focus on Intranasal Breast Milk. Unknown status NCT04229693
34 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
35 CRT ShuntCheck "Fit & Function" Exploratory Study Unknown status NCT02067364
36 Tablet-guided Versus Freehand (Tab-Guide) Ventriculostomy : Study Protocol to the Test Accuracy of Ventriculostomy in a Randomized Controlled Trial Unknown status NCT02048553
37 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
38 Investigating the Efficacy of Simulation Curricula in Neurosurgical Education Unknown status NCT02988154
39 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
40 Brain Ultrasound in the Weaning of External Ventricular Leads Unknown status NCT03531723
41 Physician Preference Study of the Utility of ShuntCheck to Detect Cerebrospinal Fluid (CSF) in Patients With Ventriculo-Peritoneal CSF Shunts Unknown status NCT00583336
42 EVALUATION OF THE SENSORY-MOTOR RESPONSE IN PATIENTS WITH MYELOMENINGOCELE FOLLOWING TREATMENT WITH PHOTOBIOMODULATION Unknown status NCT04035863
43 Transitional Care Services: A Quality and Safety Process Improvement Programme in Neurosurgery Unknown status NCT03593330
44 The Prediction of Intracranial Pressure and Clinical Outcome by Transcranial Doppler in Neurocritical Patients Unknown status NCT00886054
45 Linking Day-to-day Digital Behaviour Captured on the Smartphone With Brain Function in Patients Undergoing Brain Surgery - the "Smart Surgery" Study Unknown status NCT03516162
46 Value of MRI CSF Flowmetry in Assessment of Grey Zone Hydrocephalic Patients Unknown status NCT04060810
47 MRI of Ventriculomegaly: Morphology and Outcome Completed NCT00870675
48 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Completed NCT02651337
49 iPad Application Based Therapy Intervention in School Age Children With Surgically Treated Hydrocephalus Completed NCT03595033
50 Post-Market Clinical Follow-up Registry of Patients With CODMAN CERTAS Plus Programmable Valves Completed NCT04207229

Search NIH Clinical Center for Hydrocephalus, Congenital, 1

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Genetic Tests for Hydrocephalus, Congenital, 1

About this section

Genetic tests related to Hydrocephalus, Congenital, 1:

# Genetic test Affiliating Genes
1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 28 CCDC88C
2 Congenital Non-Communicating Hydrocephalus 28
Sources

Anatomical Context for Hydrocephalus, Congenital, 1

About this section

Organs/tissues related to Hydrocephalus, Congenital, 1:

MalaCards : Brain, Pituitary, Fetal Brain, Breast, Liver, Pineal, Bone Marrow
Sources

Publications for Hydrocephalus, Congenital, 1

About this section

Articles related to Hydrocephalus, Congenital, 1:

(show top 50) (show all 3460)
# Title Authors PMID Year
1
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. 57 5
29225145 2018
2
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. 57 5
23042809 2012
3
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 57 5
21031079 2010
4
Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): a prospective study. 62 57
3354602 1988
5
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 5
24076603 2013
6
Chromosomal linkage associated with disease severity in the hydrocephalic H-Tx rat. 57
11529267 2001
7
Familial hydrocephalus of prenatal onset. 57
8116668 1994
8
Autosomal recessive hydrocephalus with third ventricle obstruction. 57
2178419 1990
9
Autosomal recessive nonsyndromal hydrocephalus. 57
3232709 1988
10
Inherited prenatal hydrocephalus in the H-Tx rat: a morphological study. 57
3221976 1988
11
Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis. 57
3295245 1987
12
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. 57
3950933 1986
13
CONSECUTIVE HYDROCEPHALUS: REPORT OF 2 CASES. 57
14207333 1964
14
The syndrome of sex-linked hydrocephalus. 57
13889295 1961
15
Three hydrocephalic newborns-each of a successive pregnancy of a white female. 57
13768991 1961
16
Congenital hydrocephalus inmonovular twins. 57
13827230 1959
17
[The etiology of congenital hydrocephalus with regard to a case of concordant hydrocephalus in monozygotic twins]. 57
13152349 1953
18
[Familial congenital hydrocephalus]. 57
13019226 1952
19
Imaging in Chiari I Malformation. 62
36424066 2023
20
A rare case of posttraumatic meningitis presenting with acute hydrocephalus. 62
36210915 2022
21
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype. 62
35943828 2022
22
Intrauterine Zika virus infection: review of the current findings with emphasis in the prenatal and postnatal brain imaging diagnostic methods. 62
33781162 2022
23
Characteristics associated with drug resistant epilepsy in children up to 36 months old with Congenital Zika Syndrome. 62
36368189 2022
24
Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature. 62
34182859 2022
25
Sotos syndrome: A study of antenatal presentation. 62
36228445 2022
26
Impairment of motor skills in children with achondroplasia-usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study. 62
34779271 2022
27
Aetiology and diagnostics of paediatric hydrocephalus across Africa: a systematic review and meta-analysis. 62
36400085 2022
28
[Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing]. 62
36453962 2022
29
UTX deficiency in neural stem/progenitor cells results in impaired neural development, fetal ventriculomegaly, and postnatal death. 62
36412518 2022
30
Delineating septo-optic dysplasia. 62
36200678 2022
31
Brain Doppler abnormalities in fetuses with open spina bifida. 62
34470130 2022
32
Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly. 62
33292033 2022
33
Prenatal intracranial hypotension syndrome: new insights into the mechanisms of fenestration of septi pellucidi and ventriculomegaly in fetuses with open spinal dysraphism. 62
34074204 2022
34
Prenatally Symptomatic Suprasellar Arachnoid Cyst: When to treat? A case-base update. 62
35907443 2022
35
Arachnoid cysts: using prenatal imaging and need for pediatric neurosurgical intervention to better understand their natural history and prognosis. 62
33397177 2022
36
Correlation between mild fetal ventriculomegaly, chromosomal abnormalities, and copy number variations. 62
33371747 2022
37
Reported congenital malformations after exposure to non-tumour necrosis factor inhibitor biologics: A retrospective comparative study in EudraVigilance. 62
35894810 2022
38
The added value of third trimester fetal brain MRI in cases of isolated ventriculomegaly. 62
33969781 2022
39
The value of prenatal magnetic resonance imaging and postnatal follow-up using Gesell Developmental Schedules score for mild-to-moderate simple bilateral fetal ventriculomegaly. 62
33866941 2022
40
Neurodevelopmental outcomes in mild and moderate isolated ventriculomegaly originating in utero. 62
33944669 2022
41
Prenatal findings and associated survival rates in fetal ventriculomegaly: A prospective observational study. 62
35373343 2022
42
Comparison of fetal and neonatal sonographic measurements of ventricular size in second- and third-trimester fetuses with or without ventriculomegaly: cross-sectional three-dimensional ultrasound study. 62
35869902 2022
43
Outcome of fetal Vein Galen aneurysmal malformations: a systematic review and meta-analysis. 62
33508985 2022
44
Early detection of ischemic brain injuries by diffusion-weighted imaging after radiofrequency ablation for fetal reduction in monochorionic pregnancies. 62
35635295 2022
45
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome. 62
36083289 2022
46
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. 62
36403095 2022
47
The neurodevelopmental outcomes of children with encephalocele: a series of 102 patients. 62
36433870 2022
48
Fetal cerebral ventriculomegaly: What do we tell the prospective parents? 62
36371614 2022
49
Longstanding overt ventriculomegaly diagnosed in adolescents, not adults: a pediatric case report. 62
36427075 2022
50
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. 62
36209351 2022
Sources

Variations for Hydrocephalus, Congenital, 1

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ClinVar genetic disease variations for Hydrocephalus, Congenital, 1:

5 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC88C NM_001080414.4(CCDC88C):c.5058+1G>A SNV Pathogenic
 39860 rs387907320 GRCh37: 14:91744265-91744265
GRCh38: 14:91277921-91277921
2 CCDC88C NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) SNV Pathogenic
 39861 rs369384363 GRCh37: 14:91804465-91804465
GRCh38: 14:91338121-91338121
3 CCDC88C NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) DEL Pathogenic
 39862 rs387907321 GRCh37: 14:91739214-91739215
GRCh38: 14:91272870-91272871
4 CCDC88C NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs) DEL Pathogenic
 623482 rs1567043467 GRCh37: 14:91739790-91739791
GRCh38: 14:91273446-91273447
5 CCDC88C NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) DUP Pathogenic
 918058 rs1886637325 GRCh37: 14:91875017-91875018
GRCh38: 14:91408673-91408674
6 POMT1 NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) SNV Pathogenic
 1077123 GRCh37: 9:134386847-134386847
GRCh38: 9:131511460-131511460
7 ARX NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer) DEL Pathogenic
 617900 rs1569394026 GRCh37: X:25025293-25025302
GRCh38: X:25007176-25007185
8 SETD2 NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) SNV Pathogenic
 632591 rs1559720382 GRCh37: 3:47142966-47142966
GRCh38: 3:47101476-47101476
9 ATP1A3 NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) SNV Pathogenic
 161122 rs542652468 GRCh37: 19:42490329-42490329
GRCh38: 19:41986177-41986177
10 MAGEL2 NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) DEL Pathogenic
 440463 rs770374710 GRCh37: 15:23890894-23890894
GRCh38: 15:23645747-23645747
11 CDK8 NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) SNV Pathogenic
 631491 rs1565977796 GRCh37: 13:26911760-26911760
GRCh38: 13:26337623-26337623
12 ALDH7A1 NM_001182.5(ALDH7A1):c.1566-1G>T SNV Pathogenic
 374140 rs140845195 GRCh37: 5:125880712-125880712
GRCh38: 5:126545020-126545020
13 POMT1 NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) DUP Pathogenic
 3255 rs398124245 GRCh37: 9:134398412-134398413
GRCh38: 9:131523025-131523026
14 ALDH7A1 NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) SNV Pathogenic
 17995 rs121912708 GRCh37: 5:125919689-125919689
GRCh38: 5:126583997-126583997
15 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) SNV Likely Pathogenic
 374124 rs758361736 GRCh37: 15:90193067-90193067
GRCh38: 15:89649836-89649836
16 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely Pathogenic
 440948 rs1554823375 GRCh37: 10:1126394-1126394
GRCh38: 10:1080454-1080454
17 TUBB NM_178014.4(TUBB):c.1081C>T (p.Leu361Phe) SNV Likely Pathogenic
 1077126 GRCh37: 6:30691920-30691920
GRCh38: 6:30724143-30724143
18 MED12 NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg) SNV Likely Pathogenic
 374138 rs1057518921 GRCh37: X:70352315-70352315
GRCh38: X:71132465-71132465
19 OFD1 NM_003611.3(OFD1):c.2387+1G>C SNV Likely Pathogenic
 1077138 GRCh37: X:13779331-13779331
GRCh38: X:13761212-13761212
20 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely Pathogenic
 632604 rs1569234334 GRCh37: X:69549270-69549270
GRCh38: X:70329420-70329420
21 CCDC88C NM_001080414.4(CCDC88C):c.161+5G>A SNV Uncertain Significance
 918055 rs1887078001 GRCh37: 14:91883077-91883077
GRCh38: 14:91416733-91416733
22 CACNA1I NM_021096.4(CACNA1I):c.725A>C (p.Glu242Ala) SNV Uncertain Significance
 1077145 GRCh37: 22:40030714-40030714
GRCh38: 22:39634709-39634709
23 CCDC88C NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys) SNV Uncertain Significance
 930883 rs761288523 GRCh37: 14:91739775-91739775
GRCh38: 14:91273431-91273431
24 CCDC88C NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg) SNV Uncertain Significance
 1030084 rs1891200660 GRCh37: 14:91766403-91766403
GRCh38: 14:91300059-91300059
25 CCDC88C NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu) SNV Uncertain Significance
 1033653 rs762288121 GRCh37: 14:91773505-91773505
GRCh38: 14:91307161-91307161
26 CCDC88C NM_001080414.4(CCDC88C):c.3358-5G>A SNV Uncertain Significance
 1033654 rs762398207 GRCh37: 14:91770327-91770327
GRCh38: 14:91303983-91303983
27 CCDC88C NM_001080414.4(CCDC88C):c.4768+6T>C SNV Uncertain Significance
 1033655 rs183312399 GRCh37: 14:91745576-91745576
GRCh38: 14:91279232-91279232
28 CCDC88C NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) SNV Uncertain Significance
 444336 rs201940261 GRCh37: 14:91739030-91739030
GRCh38: 14:91272686-91272686
29 CCDC88C NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) SNV Uncertain Significance
 447019 rs201414940 GRCh37: 14:91749724-91749724
GRCh38: 14:91283380-91283380
30 CCDC88C NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) SNV Uncertain Significance
 447015 rs200650758 GRCh37: 14:91779767-91779767
GRCh38: 14:91313423-91313423
31 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636) CN LOSS Uncertain Significance
 523310 GRCh37: 14:76105695-76107636
GRCh38:
32 overlap with 43 genes GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5 CN GAIN Uncertain Significance
 544685 GRCh37: 17:1-2538512
GRCh38:
33 AMER1 NM_152424.4(AMER1):c.1911_1912del (p.Glu637fs) MICROSAT Uncertain Significance
 523561 rs1555933313 GRCh37: X:63411255-63411256
GRCh38: X:64191375-64191376
34 CCDC88C NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln) SNV Uncertain Significance
 634447 rs372168003 GRCh37: 14:91779758-91779758
GRCh38: 14:91313414-91313414
35 CCDC88C NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) SNV Uncertain Significance
 155879 rs587782989 GRCh37: 14:91787600-91787600
GRCh38: 14:91321256-91321256
36 DOCK6 NM_020812.4(DOCK6):c.934C>T (p.His312Tyr) SNV Uncertain Significance
 374251 rs370838036 GRCh37: 19:11356328-11356328
GRCh38: 19:11245652-11245652
37 CCDC88C NM_001080414.4(CCDC88C):c.4864A>G (p.Thr1622Ala) SNV Uncertain Significance
 1184360 GRCh37: 14:91744460-91744460
GRCh38: 14:91278116-91278116
38 CCDC88C NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) SNV Uncertain Significance
 376980 rs200769097 GRCh37: 14:91806262-91806262
GRCh38: 14:91339918-91339918
39 CCDC88C NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg) SNV Uncertain Significance
 1701677 GRCh37: 14:91770276-91770276
GRCh38: 14:91303932-91303932
40 CCDC88C NM_001080414.4(CCDC88C):c.3007-13G>T SNV Uncertain Significance
 1319344 GRCh37: 14:91773583-91773583
GRCh38: 14:91307239-91307239
41 CCDC88C NM_001080414.4(CCDC88C):c.1078A>G (p.Ile360Val) SNV Uncertain Significance
 1319345 GRCh37: 14:91792373-91792373
GRCh38: 14:91326029-91326029
42 CCDC88C NM_001080414.4(CCDC88C):c.925C>T (p.Arg309Cys) SNV Uncertain Significance
 1325520 GRCh37: 14:91804474-91804474
GRCh38: 14:91338130-91338130
43 CCDC88C NM_001080414.4(CCDC88C):c.1050+9C>T SNV Likely Benign
 518258 rs372411289 GRCh37: 14:91804340-91804340
GRCh38: 14:91337996-91337996
44 CCDC88C NM_001080414.4(CCDC88C):c.4630+78G>T SNV Benign
 1192544 GRCh37: 14:91749595-91749595
GRCh38: 14:91283251-91283251
45 CCDC88C NM_001080414.4(CCDC88C):c.1527+128A>G SNV Benign
 1192625 GRCh37: 14:91787336-91787336
GRCh38: 14:91320992-91320992
46 CCDC88C NM_001080414.4(CCDC88C):c.61-85T>C SNV Benign
 1192626 GRCh37: 14:91883267-91883267
GRCh38: 14:91416923-91416923
47 CCDC88C NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) SNV Benign
 158118 rs941920 GRCh37: 14:91739081-91739081
GRCh38: 14:91272737-91272737
48 CCDC88C NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) SNV Benign
 158114 rs150512553 GRCh37: 14:91744349-91744349
GRCh38: 14:91278005-91278005
49 CCDC88C NM_001080414.4(CCDC88C):c.3966+12G>A SNV Benign
 158110 rs3742656 GRCh37: 14:91763637-91763637
GRCh38: 14:91297293-91297293
50 CCDC88C NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) SNV Benign
 158098 rs1970912 GRCh37: 14:91773568-91773568
GRCh38: 14:91307224-91307224

Copy number variations for Hydrocephalus, Congenital, 1 from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 176873 3 51700000 54400000 Loss SFMBT1 Ventriculomegaly
Sources

Expression for Hydrocephalus, Congenital, 1

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Search GEO for disease gene expression data for Hydrocephalus, Congenital, 1.
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Pathways for Hydrocephalus, Congenital, 1

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GO Terms for Hydrocephalus, Congenital, 1

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Biological processes related to Hydrocephalus, Congenital, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton-dependent intracellular transport GO:0030705 8.92 TUBB CCDC88C
Sources

Sources for Hydrocephalus, Congenital, 1

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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