HSAS
MCID: HYD019
MIFTS: 47

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

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

Aliases & Classifications for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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

Name: Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 57 53 29
Aqueductal Stenosis 57 75 55 6 72
X-Linked Hydrocephalus Syndrome 72
Aqueductal Stenosis, X-Linked 53
Hydrocephalus, X-Linked 53
Hsas1 53
Hsas 53
Hycx 53
Xlas 53

Characteristics:

HPO:

32
hydrocephalus due to congenital stenosis of aqueduct of sylvius:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 236635
MedGen 42 C0265216
UMLS 72 C0265216 C2936786

Summaries for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

NIH Rare Diseases : 53 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 congenital hydrocephalus and hydrocephalus, 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 Acetazolamide and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and pineal, and related phenotypes are macrocephaly and agenesis of corpus callosum

Wikipedia : 75 Aqueductal stenosis is a narrowing of the aqueduct of Sylvius which blocks the flow of cerebrospinal... more...

More information from OMIM: 236635

Related Diseases for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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 491)
# Related Disease Score Top Affiliating Genes
1 congenital hydrocephalus 32.2 MBP L1CAM
2 hydrocephalus 30.3 NES MBP L1CAM
3 agammaglobulinemia, x-linked 12.5
4 enamel hypoplasia, cataracts, and aqueductal stenosis 12.5
5 headache associated with sexual activity 11.9
6 agammaglobulinemia 11.7
7 mohr-tranebjaerg syndrome 11.6
8 agammaglobulinemia 1, autosomal recessive 11.5
9 orofaciodigital syndrome 12 11.4
10 congenital analbuminemia 11.2
11 obstructive hydrocephalus 10.6
12 immune deficiency disease 10.6
13 neurofibromatosis, type iv, of riccardi 10.5
14 hydrocephalus, congenital, 1 10.5
15 hepatocellular carcinoma 10.5
16 intracranial hypertension 10.5
17 lung cancer 10.5
18 gastric cancer 10.4
19 colorectal cancer 10.4
20 squamous cell carcinoma 10.4
21 oral squamous cell carcinoma 10.4
22 hydrocephalus, normal-pressure 10.4
23 mumps 10.4
24 communicating hydrocephalus 10.4
25 bacterial infectious disease 10.4
26 headache 10.4
27 small cell cancer of the lung 10.3
28 osteogenic sarcoma 10.3
29 common variable immunodeficiency 10.3
30 bladder cancer 10.3
31 cervical cancer 10.3
32 chiari malformation 10.3
33 lung cancer susceptibility 3 10.3
34 adenocarcinoma 10.3
35 x-linked alport syndrome 10.3
36 alport syndrome 10.3
37 neutropenia 10.3
38 isolated agammaglobulinemia 10.3
39 neural tube defects 10.3
40 pancreatic cancer 10.2
41 glioblastoma multiforme 10.2
42 glioblastoma 10.2
43 chiari malformation type ii 10.2
44 toxoplasmosis 10.2
45 encephalocele 10.2
46 tremor 10.2
47 rhombencephalosynapsis 10.2
48 poliomyelitis 10.2
49 systemic lupus erythematosus 10.2
50 lymphocytic leukemia 10.2

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

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

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 agenesis of corpus callosum 32 HP:0001274
3 hydrocephalus 32 HP:0000238
4 intellectual disability 32 HP:0001249
5 spasticity 32 HP:0001257
6 aqueductal stenosis 32 HP:0002410
7 adducted thumb 32 HP:0001181
8 absent septum pellucidum 32 HP:0001331
9 spastic paraplegia 32 HP:0001258
10 corticospinal tract hypoplasia 32 HP:0007016
11 flexion contracture of thumb 32 HP:0009600

Clinical features from OMIM:

236635

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


muscle spasticity

MGI Mouse Phenotypes related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 L1CAM MBP TH

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

Drugs for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
2 Natriuretic Agents Phase 3
3 diuretics Phase 3
4 Anticonvulsants Phase 3
5 Carbonic Anhydrase Inhibitors Phase 3
6
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
7
Enalaprilat Approved 76420-72-9 6917719
8
Altretamine Approved 645-05-6 2123
9
Sulfadoxine Approved, Investigational 2447-57-6 17134
10
Pyrimethamine Approved, Investigational, Vet_approved 58-14-0 4993
11
Ramipril Approved 87333-19-5 5362129
12
Spironolactone Approved 1952-01-7, 52-01-7 5833
13 Vaccines
14 Immunologic Factors
15 Fanasil, pyrimethamine drug combination
16 HIV Protease Inhibitors
17 Diuretics, Potassium Sparing
18 Hormones
19
protease inhibitors
20 Mineralocorticoid Receptor Antagonists
21 Hormone Antagonists
22 Angiotensin-Converting Enzyme Inhibitors
23 Mineralocorticoids
24 Hydroxymethylglutaryl-CoA Reductase Inhibitors
25 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
2 International Infant Hydrocephalus Study: A Multicentre, Prospective Study Completed NCT00652470 Phase 2
3 Assessment of Family Planning and Immunization Service Integration in Malawi Completed NCT03404284
4 The Added Value of a Mobile Application of Community Case Management on Under-5 Referral, Re-consultation and Hospitalization Rates in Malawi: a Pragmatic Stepped-wedge Cluster Randomized Trial Completed NCT02763345
5 Collagen Type 4-related Nephropathies: From Alport to Thin Membrane Nephropathy. A Series of Cases Treated With Angiotensin Converting Enzyme Inhibitor Completed NCT01465126
6 Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study Completed NCT01696253
7 Assessing the Effectiveness of Community Delivery of Intermittent Preventive Treatment in Pregnancy (IPTp) in Malawi Recruiting NCT03376217
8 Three and Five Year Follow-up of Patients Reported Symptoms, Function and Quality of Life in Patients With Longstanding Hip and Groin Pain Referred to Tertiary Care. A Longitudinal Study Recruiting NCT03490071
9 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome: Current and Novel Therapies Recruiting NCT02378805 ACE-inhibitor;AT1-inhibitor;HMG-Coenzyme inhibitor (statin);Spironolactone;Paricalcitol
10 Comparing Patient-Centered Outcomes for Adults and Children With Asthma in High-Deductible Health Plans With and Without Preventive Drug Lists Active, not recruiting NCT03175536

Search NIH Clinical Center for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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

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

Anatomical Context for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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

41
Brain, Testes, Pineal, Pituitary, Heart, Fetal Brain, Spleen

Publications for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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

(show top 50) (show all 721)
# Title Authors PMID Year
1
Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius. 38 8
10589063 1999
2
Novel L1CAM splice site mutation in a young male with L1 syndrome. 71
21271669 2011
3
Expanding the phenotypic spectrum of L1CAM-associated disease. 71
16650080 2006
4
L1 Syndrome 71
20301657 2004
5
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling. 8
10378395 1999
6
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 71
9643285 1998
7
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. 71
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. 71
7881431 1994
9
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 71
7920659 1994
10
A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) 71
8401576 1993
11
A duplication in the L1CAM gene associated with X-linked hydrocephalus. 71
8401593 1993
12
Autosomal recessive congenital stenosis of aqueduct of Sylvius. 8
8471217 1993
13
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. 71
1303258 1992
14
[Congenital stenosis of the aqueduct of Sylvius transmitted in an autosomal recessive mode (5 cases in 2 families)]. 8
3498797 1987
15
[Autosomal recessive inheritance of hydrocephalus with stenosis of the duct of Sylvius]. 8
7328410 1981
16
Sex-linked hydrocephalus. Report of a family with 15 affected members. 71
13889294 1961
17
Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. 71
18136715 1949
18
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 9 38
17318848 2007
19
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 9 38
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. 9 38
11787037 2001
21
Overexpression of nestin and vimentin in the ependyma of spinal cords from hydrocephalic infants. 9 38
9061685 1997
22
Overexpression of nestin and vimentin in ependymal cells in hydrocephalus. 9 38
8811130 1996
23
Neuropathology and immunohistochemistry of the brain-stem in neonates with congenital hydrocephalus: comparative studies between aqueductal stenosis and Arnold-Chiari malformation. 9 38
7529958 1994
24
[Pathology of congenital aqueductal stenosis and posthemorrhagic hydrocephalus]. 9 38
8185973 1994
25
Acute Hydrocephalus Resulting from Neuromyelitis Optica: A Case Report and Review of the Literature. 38
31200081 2019
26
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. 38
31294511 2019
27
Aqueductal Developmental Venous Anomaly Presenting with Mimic Symptoms of Idiopathic Normal Pressure Hydrocephalus in an Elderly Patient: A Case Report. 38
31417837 2019
28
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. 38
31393094 2019
29
Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center. 38
31213636 2019
30
Fetal aqueductal stenosis: Prenatal diagnosis and intervention. 38
31306500 2019
31
Long-Term Reliability of Neuroendoscopic Aqueductoplasty in Idiopathic Aqueductal Stenosis-Related Hydrocephalus. 38
29878198 2019
32
A Case of Spontaneous Third Ventriculocisternostomy to the Interpeduncular Fossa. 38
30851465 2019
33
Is endoscopic third ventriculostomy safe and efficient in the treatment of obstructive chronic hydrocephalus in adults? A prospective clinical and MRI study. 38
31069530 2019
34
Economic benefit of neurosurgical intervention for infant hydrocephalus in Haiti. 38
31277055 2019
35
Progression of Low-Grade Glioma During Pregnancy With Subsequent Regression Postpartum Without Treatment-A Case Report. 38
29788426 2019
36
Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis. 38
30610483 2019
37
Predictors of success for combined endoscopic third ventriculostomy and choroid plexus cauterization in a North American setting: a Hydrocephalus Clinical Research Network study. 38
31151098 2019
38
Predictors of endoscopic third ventriculostomy ostomy status in patients who experience failure of endoscopic third ventriculostomy with choroid plexus cauterization. 38
31003223 2019
39
Localization, Occurrence, and CSF Changes of SP-G, a New Surface Active Protein with Assumable Immunoregulatory Functions in the CNS. 38
30032421 2019
40
An update on the central nervous system manifestations of neurofibromatosis type 1. 38
30963251 2019
41
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. 38
30996265 2019
42
Endoscopic Third Ventriculostomy in Children with Failed Ventriculoperitoneal Shunt. 38
31143252 2019
43
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. 38
30569621 2019
44
Pineal Cyst-Related Aqueductal Stenosis as Cause of Intractable Headaches in Nonhydrocephalic Patients. 38
30468924 2019
45
Ligneous conjunctivitis in a Dandy-Walker syndrome: A rare case report. 38
30574926 2019
46
Low-field magnetic resonance imaging and computed tomography of a calf with aqueductal stenosis caused by web: comparison with normal calves. 38
30429426 2019
47
Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X‑linked hydrocephaly: A case report. 38
30365056 2018
48
Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome. 38
30229955 2018
49
International Infant Hydrocephalus Study (IIHS): 5-year health outcome results of a prospective, multicenter comparison of endoscopic third ventriculostomy (ETV) and shunt for infant hydrocephalus. 38
29987375 2018
50
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome. 38
30238602 2018

Variations for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 L1CAM NM_000425.5(L1CAM): c.3458-1G> C single nucleotide variant Pathogenic rs879253724 X:153129005-153129005 X:153863550-153863550
2 L1CAM NM_000425.5(L1CAM): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs875989884 X:153132155-153132155 X:153866700-153866700
3 L1CAM NM_000425.5(L1CAM): c.2278C> T (p.Arg760Ter) single nucleotide variant Pathogenic rs797045673 X:153132257-153132257 X:153866802-153866802
4 L1CAM NM_000425.5(L1CAM): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs137852526 X:153135930-153135930 X:153870475-153870475
5 L1CAM NM_000425.5(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 X:153128311-153128311 X:153862856-153862856
6 L1CAM NM_000425.5(L1CAM): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs137852521 X:153136388-153136388 X:153870933-153870933
7 L1CAM NM_000425.5(L1CAM): c.1354G> A (p.Gly452Arg) single nucleotide variant Pathogenic rs137852520 X:153134321-153134321 X:153868866-153868866
8 L1CAM L1CAM, 1.3-KB DUP duplication Pathogenic
9 L1CAM NM_000425.5(L1CAM): c.791G> A (p.Cys264Tyr) single nucleotide variant Pathogenic rs137852518 X:153135858-153135858 X:153870403-153870403
10 L1CAM NM_000425.5(L1CAM): c.2432-19A> C single nucleotide variant Pathogenic rs879253713 X:153131293-153131293 X:153865838-153865838
11 L1CAM NM_000425.5(L1CAM): c.1615T> G (p.Cys539Gly) single nucleotide variant Likely pathogenic rs886041102 X:153133845-153133845 X:153868390-153868390
12 L1CAM NM_000425.5(L1CAM): c.924C> T (p.Gly308=) single nucleotide variant Likely pathogenic rs797044787 X:153135578-153135578 X:153870123-153870123
13 46;XX;inv(2)(p11q13)dn inversion Uncertain significance
14 L1CAM NM_000425.5(L1CAM): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance X:153133890-153133890 X:153868435-153868435
15 MLH1 NM_000249.3(MLH1): c.191A> G (p.Asn64Ser) single nucleotide variant Uncertain significance rs63750952 3:37038184-37038184 3:36996693-36996693
16 L1CAM NM_000425.5(L1CAM): c.704T> C (p.Met235Thr) single nucleotide variant Uncertain significance rs1557092782 X:153135945-153135945 X:153870490-153870490
17 PIK3R2 NM_005027.4(PIK3R2): c.2093A> C (p.His698Pro) single nucleotide variant Uncertain significance rs1555815294 19:18280010-18280010 19:18169200-18169200

Copy number variations for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 260206 X 146900000 154913754 Copy number L1CAM Aqueductal stenosis

Expression for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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

Pathways for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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 11.33 TH MBP L1CAM
2 10.85 TH NES

GO Terms for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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

Sources for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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