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HSAS
MCID: HYD019
MIFTS: 48

Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius (HSAS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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MalaCards integrated aliases for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

Name: Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 57 20 36 29
Aqueductal Stenosis 57 73 54 6 70
Aqueductal Stenosis, X-Linked 20 6
X-Linked Hydrocephalus Syndrome 70
Hydrocephalus, X-Linked 20
Hsas1 20
Hsas 20
Hycx 20
Xlas 20

Characteristics:

HPO:

31
hydrocephalus due to congenital stenosis of aqueduct of sylvius:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 236635
KEGG 36 H02458
MedGen 41 C0265216
UMLS 70 C0265216 C2936786
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Summaries for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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GARD : 20 Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes ( mutations ) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius, also known as aqueductal stenosis, is related to hydrocephalus and masa syndrome, and has symptoms including muscle spasticity An important gene associated with Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius is L1CAM (L1 Cell Adhesion Molecule), and among its related pathways/superpathways are Neuroscience and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Vitamin D and Vitamin D3 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and bone, and related phenotypes are macrocephaly and intellectual disability

KEGG : 36 Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a rare X-linked disease characterized by severe hydrocephaly. HSAS is the most common of the inherited form of hydrocephalus. It is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene.

Wikipedia : 73 Aqueductal stenosis is a narrowing of the aqueduct of Sylvius which blocks the flow of cerebrospinal... more...

More information from OMIM: 236635
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Related Diseases for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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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 Due to Congenital Stenosis of Aqueduct of Sylvius via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 30.7 NES MBP L1CAM
2 masa syndrome 11.3
3 congenital hydrocephalus 11.2
4 enamel hypoplasia, cataracts, and aqueductal stenosis 11.2
5 obstructive hydrocephalus 10.6
6 neurofibromatosis 10.5
7 mumps 10.4
8 intracranial hypertension 10.4
9 parkinsonism 10.4
10 normal pressure hydrocephalus 10.3
11 communicating hydrocephalus 10.3
12 chiari malformation 10.3
13 headache 10.3
14 neural tube defects 10.2
15 x-linked alport syndrome 10.2
16 alport syndrome 10.2
17 chiari malformation type ii 10.2
18 amenorrhea 10.2
19 hypogonadism 10.2
20 meningitis 10.2
21 toxoplasmosis 10.2
22 encephalocele 10.2
23 tremor 10.2
24 hydrocephalus with stenosis of the aqueduct of sylvius 10.2
25 rhombencephalosynapsis 10.2
26 proteinuria, chronic benign 10.1
27 glomerulonephritis 10.1
28 glioma susceptibility 1 10.1
29 neurofibromatosis, type i 10.1
30 dandy-walker syndrome 10.1
31 aspergillosis 10.1
32 myelomeningocele 10.1
33 hypogonadotropic hypogonadism 10.1
34 meningoencephalitis 10.1
35 papilledema 10.1
36 malignant astrocytoma 10.1
37 hydranencephaly 10.1
38 precocious puberty 10.1
39 megalencephaly 10.1
40 x-linked complicated spastic paraplegia type 1 10.0
41 x-linked complex spastic paraplegia 10.0
42 branchiootic syndrome 1 9.9
43 sensorineural hearing loss 9.9
44 pfeiffer syndrome 9.9
45 aplasia cutis congenita, nonsyndromic 9.9
46 basilar impression, primary 9.9
47 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
48 hemifacial microsomia 9.9
49 parkinson disease, late-onset 9.9
50 strabismus 9.9

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



Diseases related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius
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Symptoms & Phenotypes for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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Human phenotypes related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 agenesis of corpus callosum 31 HP:0001274
5 hydrocephalus 31 HP:0000238
6 aqueductal stenosis 31 HP:0002410
7 adducted thumb 31 HP:0001181
8 absent septum pellucidum 31 HP:0001331
9 spastic paraplegia 31 HP:0001258
10 corticospinal tract hypoplasia 31 HP:0007016
11 flexion contracture of thumb 31 HP:0009600

Clinical features from OMIM®:

236635 (Updated 20-May-2021)

UMLS symptoms related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:


muscle spasticity
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Drugs & Therapeutics for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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Drugs for Hydrocephalus Due to Congenital Stenosis of 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 6221 5280795
3
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
4 Hormones Phase 4
5 Plasma Substitutes Phase 4
6 Hydroxyethyl Starch Derivatives Phase 4
7 Blood Substitutes Phase 4
8 Nutrients Phase 4
9 Trace Elements Phase 4
10 Ergocalciferols Phase 4
11 Vitamins Phase 4
12 Vitamin D2 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
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
24
Vedolizumab Approved Phase 1, Phase 2 943609-66-3
25
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
26
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
27
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
28
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
29
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
30
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
31
Infliximab Approved Phase 1, Phase 2 170277-31-3
32
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
33
Decitabine Approved, Investigational Phase 2 2353-33-5 451668
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 insulin Phase 2
40 Insulin, Globin Zinc Phase 2
41 interferons Phase 2
42 Antiviral Agents Phase 2
43 Immunoglobulins, Intravenous Phase 2
44 Anti-Retroviral Agents Phase 1, Phase 2
45 Interferon-alpha Phase 2
46 Mitogens Phase 2
47 Antineoplastic Agents, Immunological Phase 2
48 Vaccines Phase 1, Phase 2
49 Alkylating Agents Phase 1, Phase 2
50 Anti-Infective 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 Ampionâ„¢ 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 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
11 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
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 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
14 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
15 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
16 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
17 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
18 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
19 A Phase II Study of sEphB4-HSA in Kaposi Sarcoma Recruiting NCT02799485 Phase 2
20 A Phase II Study of sEphB4-HSA in Metastatic Castration-Resistant Prostate Cancer Recruiting NCT04033432 Phase 2
21 A Phase II Study of sEphB4-HSA in Kaposi Sarcoma Recruiting NCT03993106 Phase 2 sEphB4-HSA
22 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
23 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
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 Prospective Phase I Study to Evaluate the Safety of a Single Intra-articular Injection of Ampionâ„¢ as a Treatment for Arthritis of the Basal Thumb Joint Completed NCT02762760 Phase 1
37 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
38 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
39 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
40 A Pilot Study of Neoadjuvant sEphB4-HSA in Patients With Genitourinary Cancers Recruiting NCT02767921 Phase 1
41 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
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 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
44 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
45 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
46 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
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 Due to Congenital Stenosis of Aqueduct of Sylvius

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Genetic Tests for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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Genetic tests related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

# Genetic test Affiliating Genes
1 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 29
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Anatomical Context for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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MalaCards organs/tissues related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

40
Bone Marrow, Brain, Bone, Pineal, Heart, T Cells, Skin
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Publications for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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Articles related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

(show top 50) (show all 759)
# Title Authors PMID Year
1
Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius. 57 61
10589063 1999
2
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 6
25644381 2016
3
Novel L1CAM splice site mutation in a young male with L1 syndrome. 6
21271669 2011
4
Expanding the phenotypic spectrum of L1CAM-associated disease. 6
16650080 2006
5
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling. 57
10378395 1999
6
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 6
9643285 1998
7
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. 6
8929944 1996
8
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. 6
7881431 1994
9
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 6
7920659 1994
10
A duplication in the L1CAM gene associated with X-linked hydrocephalus. 6
8401593 1993
11
A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) 6
8401576 1993
12
Autosomal recessive congenital stenosis of aqueduct of Sylvius. 57
8471217 1993
13
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. 6
1303258 1992
14
[Congenital stenosis of the aqueduct of Sylvius transmitted in an autosomal recessive mode (5 cases in 2 families)]. 57
3498797 1987
15
[Autosomal recessive inheritance of hydrocephalus with stenosis of the duct of Sylvius]. 57
7328410 1981
16
Sex-linked hydrocephalus. Report of a family with 15 affected members. 6
13889294 1961
17
Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. 6
18136715 1949
18
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 61 54
17318848 2007
19
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 61 54
11857550 2002
20
Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases. 54 61
11787037 2001
21
Overexpression of nestin and vimentin in the ependyma of spinal cords from hydrocephalic infants. 54 61
9061685 1997
22
Overexpression of nestin and vimentin in ependymal cells in hydrocephalus. 54 61
8811130 1996
23
Neuropathology and immunohistochemistry of the brain-stem in neonates with congenital hydrocephalus: comparative studies between aqueductal stenosis and Arnold-Chiari malformation. 54 61
7529958 1994
24
[Pathology of congenital aqueductal stenosis and posthemorrhagic hydrocephalus]. 61 54
8185973 1994
25
Endoscopic Laser Fenestration to Treat a Bobble-Head Doll Syndrome Caused by Suprasellar Cyst. 61
33741543 2021
26
Letter to the Editor: Endoscopic surgical strategy of pineal cyst-associated aqueductal stenosis. 61
33439311 2021
27
Response to Letter to the Editor: Endoscopic surgical strategy of pineal cyst-associated aqueductal stenosis. 61
33479813 2021
28
Endoscopic Third Ventriculostomy in Infants Less than One Year of Age: A Short Series of 14 Cases. 61
33652442 2021
29
External validation of the ETV success score in 313 pediatric patients: a Brazilian single-center study. 61
33389340 2021
30
Letter to the Editor. Stent placement for aqueductal stenosis. 61
33513574 2021
31
Porencephalic cyst after endoscopic third ventriculostomy and Ommaya reservoir placement: case report and review of the literature. 61
33442758 2021
32
Hydrocephalus due to aqueductal stenosis presenting with acute bilateral ptosis: case report. 61
31845609 2020
33
Endoscopic management of pineal cyst-associated aqueductal stenosis. 61
32562121 2020
34
Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly. 61
33292033 2020
35
Prediction of endoscopic third ventriculostomy (ETV) success with preoperative third ventricle floor bowing (TVFB): a supplement to ETV success score. 61
31691874 2020
36
ETV in infancy and childhood below 2 years of age for treatment of hydrocephalus. 61
32222800 2020
37
Central nervous system pathology in the amniotic rupture sequence. 61
32589127 2020
38
Brain stiffness following recovery in a patient with an episode of low-pressure hydrocephalus: case report. 61
33030603 2020
39
RAQ: a novel surrogate for the craniospinal pressure-volume relationship. 61
33021233 2020
40
A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. 61
32988999 2020
41
Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation. 61
32706613 2020
42
Obstructive hydrocephalus treated with endoscopic third ventriculostomy in a patient with Hajdu-Cheney syndrome: case report. 61
32796142 2020
43
A case of developing obstructive hydrocephalus following aqueductal stenosis caused by developmental venous anomalies. 61
31907600 2020
44
Cranial and ventricular size following shunting or endoscopic third ventriculostomy (ETV) in infants with aqueductal stenosis: further insights from the International Infant Hydrocephalus Study (IIHS). 61
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Endoscopic aqueductal stenting in the management of pediatric hydrocephalus. 61
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Mortal consequences of a cooperative action between Takotsubo syndrome and increased intracranial pressure. 61
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Obstructive hydrocephalus due to aqueductal stenosis from developmental venous anomaly draining bilateral medial thalami: a case report. 61
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The efficacy of endoscopic third ventriculostomy in children 1 year of age or younger: A systematic review and meta-analysis. 61
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Too Much on Your "Plate"? Spectrum of Pathologies Involving the Tectal Plate. 61
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Cerebrospinal fluid alterations following endoscopic third ventriculostomy with choroid plexus cauterization: a retrospective laboratory analysis of two tertiary care centers. 61
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Sources

Variations for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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ClinVar genetic disease variations for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

6 (show all 29)
# 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.3458-1G>C SNV Pathogenic 29986 rs879253724 GRCh37: X:153129005-153129005
GRCh38: X:153863550-153863550
4 L1CAM NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) SNV Pathogenic 198728 rs797044787 GRCh37: X:153135578-153135578
GRCh38: X:153870123-153870123
5 L1CAM NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) SNV Pathogenic 226120 rs875989884 GRCh37: X:153132155-153132155
GRCh38: X:153866700-153866700
6 L1CAM NM_001278116.2(L1CAM):c.1268-1G>A SNV Pathogenic 827844 rs1603275538 GRCh37: X:153134408-153134408
GRCh38: X:153868953-153868953
7 L1CAM NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) SNV Pathogenic 9990 rs137852520 GRCh37: X:153134321-153134321
GRCh38: X:153868866-153868866
8 L1CAM NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) SNV Pathogenic 211339 rs797045673 GRCh37: X:153132257-153132257
GRCh38: X:153866802-153866802
9 L1CAM NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) SNV Pathogenic 418278 rs1064793163 GRCh37: X:153134154-153134154
GRCh38: X:153868699-153868699
10 L1CAM NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) SNV Pathogenic 10001 rs137852526 GRCh37: X:153135930-153135930
GRCh38: X:153870475-153870475
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.1108G>A (p.Gly370Arg) SNV Pathogenic 9995 rs137852524 GRCh37: X:153135273-153135273
GRCh38: X:153869818-153869818
13 L1CAM NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) Duplication Pathogenic 804112 rs1603274424 GRCh37: X:153131265-153131266
GRCh38: X:153865810-153865811
14 L1CAM NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) SNV Pathogenic 9991 rs137852521 GRCh37: X:153136388-153136388
GRCh38: X:153870933-153870933
15 L1CAM NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) SNV Pathogenic 9986 rs137852518 GRCh37: X:153135858-153135858
GRCh38: X:153870403-153870403
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.3G>A (p.Met1Ile) SNV Likely pathogenic 804113 rs1603277433 GRCh37: X:153141289-153141289
GRCh38: X:153875834-153875834
18 L1CAM NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) SNV Likely pathogenic 976710 GRCh37: X:153135906-153135906
GRCh38: X:153870451-153870451
19 L1CAM NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) Deletion Likely pathogenic 982026 GRCh37: X:153138104-153138105
GRCh38: X:153872649-153872650
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.704T>C (p.Met235Thr) SNV Uncertain significance 432023 rs1557092782 GRCh37: X:153135945-153135945
GRCh38: X:153870490-153870490
23 MLH1 NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) SNV Uncertain significance 89947 rs63750952 GRCh37: 3:37038184-37038184
GRCh38: 3:36996693-36996693
24 PIK3R2 NM_005027.4(PIK3R2):c.2093A>C (p.His698Pro) SNV Uncertain significance 492997 rs1555815294 GRCh37: 19:18280010-18280010
GRCh38: 19:18169200-18169200
25 L1CAM NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg) SNV Uncertain significance 988729 GRCh37: X:153128303-153128303
GRCh38: X:153862848-153862848
26 L1CAM , LCA10 NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG Insertion Likely benign 804117 rs58566947 GRCh37: X:153151423-153151424
GRCh38: X:153885969-153885970
27 L1CAM , LCA10 NM_001278116.2(L1CAM):c.-109+238_-109+239insGG Insertion Benign 804115 rs143464562 GRCh37: X:153151280-153151281
GRCh38: X:153885826-153885827
28 L1CAM , LCA10 NM_001278116.2(L1CAM):c.-109+1811dup Duplication Benign 804114 rs77883713 GRCh37:
GRCh38: X:153884253-153884254
29 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 Due to Congenital Stenosis of Aqueduct of Sylvius from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 260206 X 146900000 154913754 Copy number L1CAM Aqueductal stenosis
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Expression for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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Search GEO for disease gene expression data for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius.
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Pathways for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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Pathways related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.33 TH MBP L1CAM
2
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 64
10.85 TH NES
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GO Terms for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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Cellular components related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.8 TH MBP L1CAM

Biological processes related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.96 TH MBP
2 central nervous system development GO:0007417 8.62 NES MBP

Molecular functions related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 8.62 TH L1CAM
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Sources for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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