HSAS
MCID: HYD048
MIFTS: 37

Hydrocephalus with Stenosis of the Aqueduct of Sylvius (HSAS)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

MalaCards integrated aliases for Hydrocephalus with Stenosis of the Aqueduct of Sylvius:

Name: Hydrocephalus with Stenosis of the Aqueduct of Sylvius 58
X-Linked Hydrocephalus 58 6
X-Linked Hydrocephalus with Stenosis of Aqueduct of Sylvius 58
X-Linked Hydrocephalus Syndrome 70
X-Linked Acqueductal Stenosis 58
Bickers-Adams Syndrome 58
X-Linked Hsas 58
Hsas 58

Characteristics:

Orphanet epidemiological data:

58
hydrocephalus with stenosis of the aqueduct of sylvius
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q03.0
UMLS via Orphanet 71 C0265216
Orphanet 58 ORPHA2182
UMLS 70 C0265216

Summaries for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

MalaCards based summary : Hydrocephalus with Stenosis of the Aqueduct of Sylvius, also known as x-linked hydrocephalus, is related to masa syndrome and hydrocephalus due to congenital stenosis of aqueduct of sylvius, and has symptoms including muscle spasticity An important gene associated with Hydrocephalus with Stenosis of the Aqueduct of Sylvius is L1CAM (L1 Cell Adhesion Molecule). The drugs Vitamin D and Vitamin D3 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are spasticity and hydrocephalus

Related Diseases for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Diseases related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 masa syndrome 11.7
2 hydrocephalus due to congenital stenosis of aqueduct of sylvius 11.5
3 congenital hydrocephalus 11.2
4 intestinal pseudo-obstruction 10.3
5 hydrocephalus 10.3
6 spastic paraparesis 10.3
7 hirschsprung disease 1 10.1
8 hydrocephalus, congenital, 1 10.1
9 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
10 communicating hydrocephalus 10.1
11 paraplegia 10.1
12 neural tube defects 10.1
13 adducted thumbs syndrome 10.1
14 thumbs, congenital clasped 10.1
15 alacrima, achalasia, and mental retardation syndrome 10.1
16 porencephaly 10.1
17 constipation 10.1
18 x-linked complicated spastic paraplegia type 1 10.0
19 x-linked complex spastic paraplegia 10.0
20 diabetes insipidus, nephrogenic, autosomal 9.9
21 factor viii deficiency 9.9
22 thumb deformity 9.9
23 adrenoleukodystrophy 9.9
24 orofaciodigital syndrome viii 9.9
25 corpus callosum, partial agenesis of, x-linked 9.9
26 hemophilia a 9.9
27 incontinentia pigmenti 9.9
28 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
29 x-linked recessive disease 9.9
30 quadriplegia 9.9
31 normal pressure hydrocephalus 9.9
32 diabetes insipidus 9.9
33 pathologic nystagmus 9.9
34 hemophilia 9.9
35 polymicrogyria 9.9
36 adrenomyeloneuropathy 9.9
37 pachygyria 9.9
38 cerebral atrophy 9.9
39 cerebrofacial arteriovenous metameric syndrome 9.9
40 rhombencephalosynapsis 9.9
41 corpus callosum, agenesis of 9.9
42 opitz-kaveggia syndrome 9.9
43 aphasia 9.9
44 microcephaly 9.9
45 hereditary spastic paraplegia 9.9
46 spasticity 9.9

Graphical network of the top 20 diseases related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius:



Diseases related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Symptoms & Phenotypes for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Human phenotypes related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
3 aqueductal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002410
4 increased intracranial pressure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002516
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 hemiplegia/hemiparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004374
7 adducted thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001181
8 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
9 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
10 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
11 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
12 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
13 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
14 absent septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001331
15 seizure 31 occasional (7.5%) HP:0001250
16 seizures 58 Occasional (29-5%)

UMLS symptoms related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius:


muscle spasticity

Drugs & Therapeutics for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Drugs for Hydrocephalus with Stenosis of the Aqueduct of Sylvius (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 119)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
2
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
3
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
4 Hormones Phase 4
5 Nutrients Phase 4
6 Hydroxyethyl Starch Derivatives Phase 4
7 Plasma Substitutes Phase 4
8 Blood Substitutes Phase 4
9 Trace Elements Phase 4
10 Vitamins Phase 4
11 Vitamin D2 Phase 4
12 Ergocalciferols Phase 4
13 Calciferol Phase 4
14 Micronutrients Phase 4
15 Calcium, Dietary Phase 4
16
Calcium Nutraceutical Phase 4 7440-70-2 271
17
Altretamine Approved Phase 3 645-05-6 2123
18 Pharmaceutical Solutions Phase 3
19
Pembrolizumab Approved Phase 2 1374853-91-4
20
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
21
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
22
Methotrexate Approved Phase 1, Phase 2 1959-05-2, 59-05-2 126941
23
Vedolizumab Approved Phase 1, Phase 2 943609-66-3
24
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
25
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
26
Infliximab Approved Phase 1, Phase 2 170277-31-3
27
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
28
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
29
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
30
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
31
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
32
Decitabine Approved, Investigational Phase 2 2353-33-5 451668
33
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
34
Simethicone Approved Phase 2 8050-81-5
35 Anti-Infective Agents, Local Phase 1, Phase 2
36 Sclerosing Solutions Phase 1, Phase 2
37 Disinfectants Phase 1, Phase 2
38 Technetium Tc 99m Aggregated Albumin Phase 2
39 Antiviral Agents Phase 2
40 interferons Phase 2
41 Immunoglobulins, Intravenous Phase 2
42 Anti-Retroviral Agents Phase 1, Phase 2
43 Interferon-alpha Phase 2
44 Mitogens Phase 2
45 Antineoplastic Agents, Immunological Phase 2
46 Alkylating Agents Phase 1, Phase 2
47 Anti-Infective Agents Phase 1, Phase 2
48 Immunologic Factors Phase 1, Phase 2
49 Antibiotics, Antitubercular Phase 1, Phase 2
50 Gastrointestinal Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of 6 % Hydroxyethyl Starch 130/0.4 (Voluven®) vs. 5% HSA in Volume Replacement Therapy During Elective Open-heart Surgery in Paediatric Patients Completed NCT00860405 Phase 4 HES 130/0.4 (6%) in sodium chloride (Voluven®, solution for infusion), Human serum albumin (HSA 50g/L);Human serum albumin (HSA 50g/L)
2 Efficacy and Safety of Perioperative Infusion of 6 % Hydroxyethyl Starch 130/0.4 in an Isotonic Electrolyte Solution (VolulyteTM) vs. 5% HSA as Volume Replacement Therapy During Cardiac Surgery for Adult Patients Completed NCT01553617 Phase 4 6% hydroxyethyl starch 130/0.4 in an isotonic electrolyte solution (VolulyteTM);Human serum albumin
3 Vitamin D Supplementation in Patients With Diabetes Mellitus Type 2 and Low 25(OH)D Concentrations: Does it Help to Improve Endothelial Function-The DIMENSION TRIAL Completed NCT01741181 Phase 4 Vitamin D supplementation;Placebo Pill
4 A Phase 3 Randomized Study to Confirm the Efficacy of an Intra-Articular Injection of Ampion™ in Adults With Pain Due to Severe Osteoarthritis of the Knee Completed NCT03182686 Phase 3
5 Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study, Designed to Determine the Efficacy, Safety, and Tolerability of Intramuscular Administration of Allogeneic PLX-PAD Cells for the Treatment of Muscle Injury Following Arthroplasty for Hip Fracture Recruiting NCT03451916 Phase 3 PLX-PAD;Placebo
6 A Randomized, Controlled, Double-Blind Study to Evaluate the Efficacy and Safety of an Intra-Articular Injection of Ampion in Adults With Pain Due to Severe Osteoarthritis of the Knee. Active, not recruiting NCT03988023 Phase 3
7 An Open Label Extension Study to Assess the Safety of Long-Term Treatment With a 4 mL Intra-Articular Injection of Ampion in Adults With Pain Due to Severe Osteoarthritis of the Knee Terminated NCT03349645 Phase 3
8 Effect of HSA or Saline Diluent on Immunotherapy Extract Stability as Determined by Graded ID Skin Tests Unknown status NCT01989897 Phase 1, Phase 2 saline with 1mg/ml Histamine base;diluent, saline with HSA--phenol
9 Evaluation of Near- InfraRed Imaging of ICG in Comparison With the Lymphoscintigraphic Technique Using Intramammary and Peritumoral Injection of 99mTc-HSA-Nanocolloids for the SLN Detection in BC Patients. Unknown status NCT02032498 Phase 2 Indocyanine Green
10 Transplantation in Myocardial Infarction Evaluation (TIME) Protocol: A Phase II, Randomized, Controlled, Double-Blind Trial Evaluating the Effect of Timing on the Administration of Bone Marrow Mononuclear Cells (BMMNCs) Versus Placebo in Patients With Acute Myocardial Infarction Completed NCT00684021 Phase 2
11 A Phase II, Randomized, Controlled, Double-Blind Pilot Trial Evaluating the Safety and Effect of Administration of Bone Marrow Mononuclear Cells Two to Three Weeks Following Acute Myocardial Infarction Completed NCT00684060 Phase 2
12 A Comparison of the Safety, Tolerability, and Immunogenicity of V205C Manufactured From the 2003 Measles Stock Seed With Recombinant Human Albumin (rHA) Versus Currently Licensed V205C Manufactured From the 1967 Measles Stock Seed With Human Serum Albumin (HSA) in Healthy Children 12 to 18 Months of Age Completed NCT00109278 Phase 2
13 A Phase 1 & 2, Randomized Open-Label Study to Evaluate the Pharmacokinetics, Safety and Antiretroviral Activity of Succinylated Human Serum Albumin (Suc-HSA) in Treatment Naïve HIV-1 Infected Subjects Completed NCT00128063 Phase 1, Phase 2 succinylated human serum albumin
14 A Comparison of the Safety, Tolerability, and Immunogenicity of V205C Manufactured With Recombinant Human Albumin (rHA) Versus V205C Manufactured With Pooled-Donor Human Serum Albumin (HSA) in Healthy Children 12 to 18 Months of Age Completed NCT00092404 Phase 2
15 Ingested Interferon-Alpha: Prolongation or Permanence of the "Honeymoon" Phase in Newly Diagnosed Diabetes Mellitus Completed NCT00024518 Phase 2 30,000 units hrINF-alpha;5,000 hrINF-alpha
16 First-in-human, Double Blind, Randomized With Placebo, Open for the 6 First Patients (Dose Ranging) to Evaluate the Safety and Efficacy of Intracoronary Infusion of Allogeneic Human CSCs in Patients With AMI and Left Ventricular Dysfunction Completed NCT02439398 Phase 1, Phase 2
17 A Phase IIa Trial of sEphB4-HSA in Combination With Anti PD-1 Antibody (Pembrolizumab, MK3475) in Patients With Non-small Cell Lung and Head/Neck Cancer Recruiting NCT03049618 Phase 2
18 A Phase II Trial of sEphB4-HSA in Combination With Anti PD1 Antibody Pembrolizumab (MK-7435) for Metastatic Urothelial Cancer Refractory to Platinum Recruiting NCT02717156 Phase 2
19 A Phase 1/2 Study of NM21-1480 (Anti-PDL-1/Anti-4-1BB/Anti-HSA Tri-Specific Antibody) in Adult Patients With Advanced Solid Tumors Recruiting NCT04442126 Phase 1, Phase 2
20 A Phase II Study of sEphB4-HSA in Kaposi Sarcoma Recruiting NCT02799485 Phase 2
21 A Phase II Trial of Pembrolizumab as Standard of Care + sEphB4-HSA in Chemotherapy Ineligible or Chemotherapy Refusing Patients With Metastatic Urothelial Carcinoma Recruiting NCT04486781 Phase 2 Pembrolizumab + sEphB4-HSA
22 A Phase II Study of sEphB4-HSA in Kaposi Sarcoma Recruiting NCT03993106 Phase 2 sEphB4-HSA
23 A Phase II Study of sEphB4-HSA in Metastatic Castration-Resistant Prostate Cancer Recruiting NCT04033432 Phase 2
24 A Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Safety and Efficacy of Intravenous Infusion of CAP-1002 in Patients With COVID-19 (INSPIRE) Recruiting NCT04623671 Phase 2
25 A Phase I/II Study Using Allogeneic Tumor Cell Vaccination With Oral Metronomic Cytoxan in Patients With High-Risk Neuroblastoma (ATOMIC) Active, not recruiting NCT01192555 Phase 1, Phase 2 Cytoxan
26 A Multicenter, Open-label, Randomized, Phase I/II Clinical Trial Comparing Safety and Durable Overall Response Day 56 in Patients With Steroid Resistent Acute GvHD After Allogeneic Hematopoietic Stem Cell Transplant Treated With DSC or BAT Not yet recruiting NCT04118556 Phase 1, Phase 2 Best available Treatment (BAT)
27 A Phase IIB Randomized, Placebo-Controlled, Multicenter Study of the Comparative Efficacy and Safety of Transendocardial Injection of Allogeneic-MSC Versus Placebo in Patients With Non- Ischemic Dilated Cardiomyopathy Not yet recruiting NCT04476901 Phase 2
28 A Pilot/Safety Study of sEphB4-HSA in Combination With a Hypomethylating Agent (HMA) for Patients With Relapsed or Refractory Myelodysplastic Syndrome (MDS) and AML Previously Treated With a Hypomethylating Agent Terminated NCT03146871 Phase 2 Azacitidine;Decitabine
29 A Phase I/II, Randomized, Double-Blinded, Placebo-Controlled Study of the Safety and Efficacy of Intramyocardial Injection of Autologous Human Mesenchymal Stem Cells (MSCs) in Patients With Chronic Ischemic Left Ventricular Dysfunction Secondary to Myocardial Infarction (MI) Undergoing Cardiac Surgery for Coronary Artery Bypass Grafting (CABG) Terminated NCT00587990 Phase 1, Phase 2
30 A Randomized Trial of Cvac (Autologous Dendritic Cells Pulsed With Recombinant Human Fusion Protein [Mucin 1-glutathione S-transferase] Coupled to Oxidized Polymannose) as Maintenance Treatment in Patients With Epithelial Ovarian Cancer (EOC) in Complete Remission Following First-line Chemotherapy (A) and Patients With EOC in Second Remission (B) Terminated NCT01521143 Phase 2
31 A Phase I/II, Randomized, Placebo-Controlled Study of the Safety and Efficacy of Transendocardial Injection of Autologous Human Cells (Mesenchymal or the Combination of MSC and Cardiac Stem Cells) in Patients With Chronic Ischemic Left Ventricular Dysfunction and Heart Failure Secondary to Myocardial Infarction. Withdrawn NCT02503280 Phase 1, Phase 2 Autologous hMSCs;Autologous Human C-Kit CSCs II;Placebo
32 Randomized, Double-blind, Placebo-controlled, Phase 1A Clinical Trial to Assess the Safety, Pharmacokinetic and Pharmacodynamic Effects of Single Escalating Doses of a Standardized Epimedium Prenylflavonoids (EP) Extract (HSA Chinese Proprietary Medicine No: 123317) in Healthy Men. Unknown status NCT02931305 Phase 1 Epimedium Prenylflavonoids Extract;Placebo
33 Phase 1 Study of Bone Marrow - Derived Stem Cell for the Treatment of Knee Osteoarthritis Unknown status NCT00550524 Phase 1
34 Dose Escalating and Randomized, Placebo-Controlled, Double-Blind Study to Assess Safety, Immunogenicity, and Protective Efficacy of Radiation Attenuated Plasmodium Falciparum NF54 Sporozoites (PfSPZ Vaccine) in Healthy African Adults in Mali Completed NCT02627456 Phase 1 PBS and HSA Diluent;Coartem;ASAQ
35 Comparative Pharmacokinetic Profile of Interferon Beta-1a (Bioferon®) Administered as Single i.v. Doses in HSA-free Formulation and HSA+ Solution and as Multiple s.c. Doses in Healthy Subjects Completed NCT02517788 Phase 1 Interferon beta-1a HSA-free biosimilar;Interferon beta-1a HSA+ biosimilar;Interferon beta-1a original
36 A Phase I Safety and Immunogenicity Trial of an Alphavirus Replicon HIV Subtype C Gag Vaccine (AVX101, Alphavax, Inc.) in Healthy HIV-1 Uninfected Adult Volunteers Completed NCT00063778 Phase 1
37 A Prospective Phase I Study to Evaluate the Safety of a Single Intra-articular Injection of Ampion™ as a Treatment for Arthritis of the Basal Thumb Joint Completed NCT02762760 Phase 1
38 A Phase I, Dose Escalation, Safety, and Immunogenicity Trial of an Alphavirus Replicon HIV-1 Subtype C Gag Vaccine (AVX101) in Healthy HIV-1 Uninfected Adult Participants Completed NCT00097838 Phase 1
39 VRC 314: A Phase 1, Open-Label, Clinical Trial With Experimental Controlled Human Malaria Infections (CHMI) to Evaluate Safety and Durability of Protection Following Intravenous and Intramuscular Administration of PFSPZ Vaccine in Malaria-Naive Adults Completed NCT02015091 Phase 1
40 A Phase I Dose Escalation Study With Expansion to Evaluate the Safety of SEPHB4-HSA in Combination With Cytarabine or Liposomal Vincristine in Patients With Relapsed or Refractory Acute Leukemia Recruiting NCT03519984 Phase 1 Cytarabine;Vincristine Liposomal
41 A Pilot Study of Neoadjuvant sEphB4-HSA in Patients With Genitourinary Cancers Recruiting NCT02767921 Phase 1
42 A Phase I/Ib Study of sEphB4-HSA in Combination With Chemotherapy or Cetuximab and Radiation Therapy in Patients With Intermediate to High Risk, Locally-Advanced Squamous Cell Carcinomas of the Head and Neck Recruiting NCT04091867 Phase 1 sEphB4-HSA with chemotherapy;Cetuximab
43 A Phase I Dose-Escalation Study Evaluating Safety and Tolerability of Viral-Specific T Cells Against CMV in Adult Kidney Transplant Recipients Recruiting NCT03950414 Phase 1
44 A Phase I Pilot Study of the Safety of Infusions of Allogeneic Human Cord Tissue Mesenchymal Stromal Cells in Children With Multisystem Inflammatory Syndrome in Children (MIS-C) Recruiting NCT04549285 Phase 1
45 A Pilot Multi-arm Study of sEphB4-HSA in Combination With Different Chemotherapy Regimens in Patients With Specific Advanced or Metastatic Solid Tumors Active, not recruiting NCT02495896 Phase 1 Cisplatin;Docetaxel;Gemcitabine Hydrochloride;Paclitaxel Albumin-Stabilized Nanoparticle Formulation
46 A First-In-Human Phase I Study of sEphB4-HSA in Patients With Advanced Solid Tumors With Expansion at the Maximum Tolerated Dose (MTD) or Recommended Phase II Dose (RP2D). Active, not recruiting NCT01642342 Phase 1
47 Islet Allotransplantation in Type 1 Diabetes Enrolling by invitation NCT01705899 Phase 1 Human Pancreatic Islets
48 A First-in-Human Phase I Study of Intravesical sEphB4-HSA in Patients With "BCG-Unresponsive" Bladder Carcinoma In Situ (CIS), Completely Resected High Grade Ta/T1, to Establish the Maximum Tolerated Dose (MTD) or Recommended Phase II Dose (RP2D) Not yet recruiting NCT03552796 Phase 1
49 A PHASE I STUDY OF hCT-MSC, AN UMBILICAL CORD-DERIVED MESENCHYMAL STROMAL CELL PRODUCT, IN ADULTS WITH AUTISM SPECTRUM DISORDER Not yet recruiting NCT04484077 Phase 1
50 Phase 1 Study of Bone Marrow - Derived Stem Cell in the Treatment of Ocular Lesions of Behcet's Disease Terminated NCT00550498 Phase 1

Search NIH Clinical Center for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Genetic Tests for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Anatomical Context for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

MalaCards organs/tissues related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius:

40
Bone Marrow, Bone, Skin, Prostate, T Cells, Endothelial

Publications for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Articles related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius:

(show top 50) (show all 151)
# Title Authors PMID Year
1
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 61 6
9643285 1998
2
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. 61 6
8929944 1996
3
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. 61 6
7881431 1994
4
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 61 6
7920659 1994
5
A duplication in the L1CAM gene associated with X-linked hydrocephalus. 6 61
8401593 1993
6
A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) 61 6
8401576 1993
7
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. 61 6
1303258 1992
8
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 6
25644381 2016
9
Novel L1CAM splice site mutation in a young male with L1 syndrome. 6
21271669 2011
10
Expanding the phenotypic spectrum of L1CAM-associated disease. 6
16650080 2006
11
Sex-linked hydrocephalus. Report of a family with 15 affected members. 6
13889294 1961
12
Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. 6
18136715 1949
13
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. 61
33415589 2021
14
Thalamic Massa Intermedia in Children with and without Midline Brain Malformations. 61
32115420 2020
15
A new frameshift mutation in L1CAM producing X-linked hydrocephalus. 61
31756056 2020
16
[Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene]. 61
31515785 2019
17
[Analysis of L1CAM gene mutation in pedigrees with X-linked genetic hydrocephalus]. 61
31030434 2019
18
Characterization of a novel rat model of X-linked hydrocephalus by CRISPR-mediated mutation in L1cam. 61
30738385 2019
19
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing. 61
31572438 2019
20
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. 61
29225145 2018
21
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS). 61
27207492 2016
22
Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene. 61
26471711 2016
23
Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI. 61
26013959 2016
24
The role of L1cam in murine corticogenesis, and the pathogenesis of hydrocephalus. 61
25641508 2015
25
Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases. 61
26227058 2015
26
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene. 61
25039760 2014
27
L1CAM whole gene deletion in a child with L1 syndrome. 61
24668863 2014
28
L1cam is crucial for cell locomotion and terminal translocation of the Soma in radial migration during murine corticogenesis. 61
24489698 2014
29
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. 61
23820807 2013
30
Downregulation of L1 perturbs neuronal migration and alters the expression of transcription factors in murine neocortex. 61
23073969 2013
31
Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum. 61
22354677 2012
32
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. 61
22344793 2012
33
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus. 61
22222883 2012
34
Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus). 61
21961551 2011
35
L1CAM malfunction in the nervous system and human carcinomas. 61
20237819 2010
36
Novel mutations in the L1CAM gene support the complexity of L1 syndrome. 61
20447653 2010
37
Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development. 61
20127821 2010
38
A novel L1CAM mutation in a fetus detected by prenatal diagnosis. 61
19685344 2010
39
A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice. 61
19565280 2010
40
L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. 61
19641926 2009
41
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). 61
19300444 2009
42
[Acute behaviour disorder in a patient with X-linked hydrocephalus with normal pressure]. 61
19225738 2009
43
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review. 61
18485929 2008
44
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 61
17318848 2007
45
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. 61
17328266 2006
46
Prenatal diagnosis in a family with X-linked hydrocephalus. 61
16088863 2005
47
A novel L1CAM mutation with L1 spectrum disorders. 61
15662685 2005
48
Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius. 61
15368500 2004
49
[From gene to disease; X-linked hydrocephalus and LiCAM]. 61
15326648 2004
50
Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. 61
15108295 2004

Variations for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

ClinVar genetic disease variations for Hydrocephalus with Stenosis of the Aqueduct of Sylvius:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 L1CAM L1CAM, 1.3-KB DUP Duplication Pathogenic 9987 GRCh37:
GRCh38:
2 L1CAM NM_001278116.2(L1CAM):c.2432-19A>C SNV Pathogenic 9985 rs879253713 GRCh37: X:153131293-153131293
GRCh38: X:153865838-153865838
3 L1CAM NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) SNV Pathogenic 9986 rs137852518 GRCh37: X:153135858-153135858
GRCh38: X:153870403-153870403
4 L1CAM NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) SNV Pathogenic 9991 rs137852521 GRCh37: X:153136388-153136388
GRCh38: X:153870933-153870933
5 L1CAM NM_001278116.2(L1CAM):c.3458-1G>C SNV Pathogenic 29986 rs879253724 GRCh37: X:153129005-153129005
GRCh38: X:153863550-153863550
6 L1CAM NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) SNV Pathogenic 198728 rs797044787 GRCh37: X:153135578-153135578
GRCh38: X:153870123-153870123
7 L1CAM NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) SNV Pathogenic 226120 rs875989884 GRCh37: X:153132155-153132155
GRCh38: X:153866700-153866700
8 L1CAM NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) Duplication Pathogenic 804112 rs1603274424 GRCh37: X:153131265-153131266
GRCh38: X:153865810-153865811
9 L1CAM NM_001278116.2(L1CAM):c.1268-1G>A SNV Pathogenic 827844 rs1603275538 GRCh37: X:153134408-153134408
GRCh38: X:153868953-153868953
10 L1CAM NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) SNV Pathogenic 9990 rs137852520 GRCh37: X:153134321-153134321
GRCh38: X:153868866-153868866
11 L1CAM NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) SNV Pathogenic 9993 rs137852522 GRCh37: X:153128311-153128311
GRCh38: X:153862856-153862856
12 L1CAM NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) SNV Pathogenic 211339 rs797045673 GRCh37: X:153132257-153132257
GRCh38: X:153866802-153866802
13 L1CAM NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) SNV Pathogenic 9995 rs137852524 GRCh37: X:153135273-153135273
GRCh38: X:153869818-153869818
14 L1CAM NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) SNV Pathogenic 418278 rs1064793163 GRCh37: X:153134154-153134154
GRCh38: X:153868699-153868699
15 L1CAM NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) SNV Pathogenic 10001 rs137852526 GRCh37: X:153135930-153135930
GRCh38: X:153870475-153870475
16 L1CAM NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) SNV Likely pathogenic 689728 rs1603276146 GRCh37: X:153136335-153136335
GRCh38: X:153870880-153870880
17 L1CAM NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) SNV Likely pathogenic 976710 GRCh37: X:153135906-153135906
GRCh38: X:153870451-153870451
18 L1CAM NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) Deletion Likely pathogenic 982026 GRCh37: X:153138104-153138105
GRCh38: X:153872649-153872650
19 L1CAM NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) SNV Likely pathogenic 804113 rs1603277433 GRCh37: X:153141289-153141289
GRCh38: X:153875834-153875834
20 L1CAM NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) SNV Likely pathogenic 279601 rs886041102 GRCh37: X:153133845-153133845
GRCh38: X:153868390-153868390
21 L1CAM NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) SNV Uncertain significance 562010 rs1569544754 GRCh37: X:153133890-153133890
GRCh38: X:153868435-153868435
22 L1CAM NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg) SNV Uncertain significance 988729 GRCh37: X:153128303-153128303
GRCh38: X:153862848-153862848
23 L1CAM NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) SNV Uncertain significance 432023 rs1557092782 GRCh37: X:153135945-153135945
GRCh38: X:153870490-153870490
24 L1CAM , LCA10 NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG Insertion Likely benign 804117 rs58566947 GRCh37: X:153151423-153151424
GRCh38: X:153885969-153885970
25 L1CAM , LCA10 NM_001278116.2(L1CAM):c.-109+1811dup Duplication Benign 804114 rs77883713 GRCh37:
GRCh38: X:153884253-153884254
26 L1CAM , LCA10 NM_001278116.2(L1CAM):c.-109+238_-109+239insGG Insertion Benign 804115 rs143464562 GRCh37: X:153151280-153151281
GRCh38: X:153885826-153885827
27 L1CAM , LCA10 NM_001278116.2(L1CAM):c.-109+234del Deletion Benign 804116 rs199975679 GRCh37: X:153151285-153151285
GRCh38: X:153885831-153885831

Copy number variations for Hydrocephalus with Stenosis of the Aqueduct of Sylvius from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 260210 X 146900000 154913754 Copy number L1CAM X-linked hydrocephalus

Expression for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Search GEO for disease gene expression data for Hydrocephalus with Stenosis of the Aqueduct of Sylvius.

Pathways for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

GO Terms for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Sources for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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