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
Aqueductal Stenosis 57 76 29 55 6 73
X-Linked Hydrocephalus Syndrome 73
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:



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. Affiliated tissues include bone, brain and pineal, and related phenotypes are macrocephaly and agenesis of corpus callosum

Wikipedia : 76 Aqueductal stenosis is a narrowing of the aqueduct of Sylvius which blocks the flow of cerebrospinal... more...

Description 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 213)
# Related Disease Score Top Affiliating Genes
1 congenital hydrocephalus 32.2 L1CAM MBP
2 hydrocephalus 30.7 L1CAM MBP NES
3 agammaglobulinemia, x-linked 12.3
4 enamel hypoplasia, cataracts, and aqueductal stenosis 12.2
5 headache associated with sexual activity 11.7
6 isolated growth hormone deficiency, type iii, with agammaglobulinemia 11.7
7 masa syndrome 11.5
8 mohr-tranebjaerg syndrome 11.4
9 hydrocephalus with stenosis of the aqueduct of sylvius 11.3
10 orofaciodigital syndrome 12 11.2
11 congenital analbuminemia 11.1
12 agammaglobulinemia 1, autosomal recessive 11.1
13 agammaglobulinemia 10.6
14 mumps 10.4
15 obstructive hydrocephalus 10.3
16 lung cancer 10.3
17 hepatocellular carcinoma 10.3
18 small cell cancer of the lung 10.3
19 adenocarcinoma 10.3
20 colorectal cancer 10.3
21 gastric cancer 10.3
22 communicating hydrocephalus 10.2
23 chiari malformation 10.2
24 breast cancer 10.2
25 squamous cell carcinoma 10.2
26 prostate cancer 10.1
27 alport syndrome, x-linked 10.1
28 common variable immunodeficiency 10.1
29 hydrocephalus, normal-pressure 10.1
30 encephalocele 10.1
31 rhombencephalosynapsis 10.1
32 renal cell carcinoma, nonpapillary 10.1
33 osteogenic sarcoma 10.1
34 cervical cancer 10.1
35 lung cancer susceptibility 3 10.1
36 bladder cancer 10.1
37 leukemia 10.1
38 neural tube defects 10.0
39 3-methylglutaconic aciduria, type iii 10.0
40 hypogonadotropic hypogonadism 10.0
41 meningoencephalitis 10.0
42 hypogonadism 10.0
43 viral infectious disease 10.0
44 meningitis 10.0
45 tremor 10.0
46 ovarian cancer 10.0
47 pancreatic ductal adenocarcinoma 10.0
48 lymphocytic leukemia 10.0
49 astrocytoma 10.0
50 lupus erythematosus 10.0

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

Clinical features from OMIM:

236635

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

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


muscle spasticity

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

Search Clinical Trials , 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 Aqueductal Stenosis 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
Bone, Brain, Pineal, Lung, Tongue, Myeloid, Temporal Lobe

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 197)
# Title Authors Year
1
Atlantoaxial Subluxation Secondary to Unstable Os Odontoideum in a Patient With Arrested Hydrocephalus Due to Congenital Aqueductal Stenosis: A Case Report. ( 30364750 )
2018
2
Neuroendoscopic Management of Coexisting Congenital Agenesis of Bilateral Foramen of Monro with Aqueductal Stenosis and Chiari Malformation: Case Report and Review of the Literature. ( 30017764 )
2018
3
Long-Term Reliability of Neuroendoscopic Aqueductoplasty in Idiopathic Aqueductal Stenosis-Related Hydrocephalus. ( 29878198 )
2018
4
Pineal cyst related aqueductal stenosis as a cause of intractable headaches in non-hydrocephalic patients. ( 30468924 )
2018
5
Visualization of CSF Flow with Time-resolved 3D MR Velocity Mapping in Aqueductal Stenosis Before and After Endoscopic Third Ventriculostomy : A Feasibility Study. ( 27503094 )
2018
6
Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis. ( 29519789 )
2018
7
Clinical Outcomes of Isolated Congenital Aqueductal Stenosis. ( 29588243 )
2018
8
Low-field magnetic resonance imaging and computed tomography of a calf with aqueductal stenosis caused by web: comparison with normal calves. ( 30429426 )
2018
9
Clinical analysis of aqueductal stenosis in patients with hydrocephalus in a Kenyan setting. ( 28533829 )
2017
10
Hydrocephalus presenting as idiopathic aqueductal stenosis with subsequent development of obstructive tumor: report of 2 cases demonstrating the importance of serial imaging. ( 28777035 )
2017
11
Late Onset Aqueductal Stenosis-associated Hydrocephalus Mimicking Pure Akinesia with Gait Freezing. ( 27813469 )
2017
12
Outcome of treatment after failed endoscopic third ventriculostomy (ETV) in infants with aqueductal stenosis: results from the International Infant Hydrocephalus Study (IIHS). ( 28357554 )
2017
13
Two-Dimensional Ultrasound Evaluation of the Fetal Cerebral Aqueduct: Improving the Antenatal Diagnosis and Counseling of Aqueductal Stenosis. ( 28433990 )
2017
14
Solitary Cysticercal Cyst Inside the Blake's Pouch Remnant of Mega Cisterna Magna with Associated Aqueductal Stenosis: Clinical and Management Implications. ( 28434960 )
2017
15
Letter to the Editor regarding "A fully dynamic multi-compartmental poroelastic system: Application to aqueductal stenosis", by D. Chou, J.C. Vardakis, L. Guo, B.J. Tully, and Y. Ventikos. ( 28549602 )
2017
16
Response to letter to the editor concerning "A fully dynamic multi-compartmental poroelastic system: Application to aqueductal stenosis". ( 28554495 )
2017
17
Loss of p73 in ependymal cells during the perinatal period leads to aqueductal stenosis. ( 28931858 )
2017
18
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. ( 27841240 )
2016
19
Does aqueductal stenosis influence the lumbar infusion test in normal-pressure hydrocephalus? ( 27730385 )
2016
20
Hydrocephalus in aqueductal stenosis--a retrospective outcome analysis and proposal of subtype classification. ( 26922081 )
2016
21
Uncovering a New Cause of Obstructive Hydrocephalus Following Subarachnoid Hemorrhage: Choroidal Artery Vasospasm-Related Ependymal Cell Degeneration and Aqueductal Stenosis-First Experimental Study. ( 27020981 )
2016
22
Rare case of non-neoplastic aqueductal stenosis due to web in a patient with neurofibromatosis type-1. ( 27841242 )
2016
23
Bilateral occlusion of the foramina of Monro after endoscopic third ventriculostomy for aqueductal stenosis--a case report. ( 26438545 )
2016
24
A fully dynamic multi-compartmental poroelastic system: Application to aqueductal stenosis. ( 26671218 )
2016
25
A novel low-profile ventriculoamniotic shunt for foetal aqueductal stenosis. ( 27004923 )
2016
26
Lower rates of symptom recurrence and surgical revision after primary compared with secondary endoscopic third ventriculostomy for obstructive hydrocephalus secondary to aqueductal stenosis in adults. ( 26517771 )
2015
27
Aqueductal Stenosis Has a New Dimension--Aspergillosis: A Rare Case Report and Review of the Literature. ( 25982686 )
2015
28
Accuracy of prenatal diagnosis of isolated aqueductal stenosis. ( 25348577 )
2015
29
Fetal Therapy for Isolated Aqueductal Stenosis. ( 25997519 )
2015
30
Parkinsonism Improved With Levodopa After Endoscopic Third Ventriculostomy in Shunted Hydrocephalus Due to Aqueductal Stenosis. ( 26185954 )
2015
31
The Use of an Aspirating/Resecting Device to Reduce Stoma Closure Following Endoscopic Third Ventriculostomy for Aqueductal Stenosis. ( 29506164 )
2015
32
Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. ( 24633306 )
2014
33
Transethmoidal encephalocele after reduction of high intracranial pressure in aqueductal stenosis. ( 24535796 )
2014
34
Tectal plate glioma: lessons learned from a patient with hydrocephalus, Chiari malformation-1 and concomitant aqueductal stenosis. ( 24635925 )
2014
35
Detection of the development of late-onset idiopathic aqueductal stenosis (LIAS) by chronological magnetic resonance imaging: a case report. ( 24413967 )
2014
36
Third Ventriculostomy in Late-onset Idiopathic Aqueductal Stenosis Treatment: A Focus on Clinical Presentation and Radiological Diagnosis. ( 25446383 )
2014
37
Obstructive hydrocephalus following aqueductal stenosis caused by supra- and infratentorial developmental venous anomaly: case report. ( 23053361 )
2013
38
Hydrocephalus due to aqueductal stenosis in a case of mumps meningoencephalitis: A rare complication. ( 24082949 )
2013
39
Genetic deletion of Rnd3 results in aqueductal stenosis leading to hydrocephalus through up-regulation of Notch signaling. ( 23630292 )
2013
40
Neuropsychological profiles of children with aqueductal stenosis and Spina Bifida myelomeningocele. ( 23153482 )
2013
41
Letter to the editor: Hydrocephalus as a cause of chorea in a patient with aqueductal stenosis. ( 24272413 )
2013
42
Endoscopic third ventriculostomy for idiopathic aqueductal stenosis. ( 22381825 )
2013
43
A rare case of congenital aqueductal stenosis. ( 24600096 )
2013
44
Aqueductal stenosis secondary to Whipple's disease. ( 24617193 )
2013
45
Tonsillar herniation and syringomyelia caused by long-standing occlusive hydrocephalus due to aqueductal stenosis: rapid resolution after endoscopic third ventriculostomy--a case report. ( 21317417 )
2012
46
Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis. ( 22290861 )
2012
47
Relapsing dorsal midbrain syndrome following interventions for hydrocephalus in aqueductal stenosis. ( 22297265 )
2012
48
Benign cerebral aqueductal stenosis in an adult. ( 22116440 )
2012
49
Evaluation of aqueductal stenosis by 3D sampling perfection with application-optimized contrasts using different flip angle evolutions sequence: preliminary results with 3T MR imaging. ( 22173764 )
2012
50
Long-term outcome for endoscopic third ventriculostomy alone or in combination with choroid plexus cauterization for congenital aqueductal stenosis in African infants. ( 22747094 )
2012

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 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 L1CAM NM_000425.4(L1CAM): c.2432-19A> C single nucleotide variant Pathogenic rs879253713 GRCh37 Chromosome X, 153131293: 153131293
2 L1CAM NM_000425.4(L1CAM): c.2432-19A> C single nucleotide variant Pathogenic rs879253713 GRCh38 Chromosome X, 153865838: 153865838
3 L1CAM NM_000425.4(L1CAM): c.791G> A (p.Cys264Tyr) single nucleotide variant Pathogenic rs137852518 GRCh37 Chromosome X, 153135858: 153135858
4 L1CAM NM_000425.4(L1CAM): c.791G> A (p.Cys264Tyr) single nucleotide variant Pathogenic rs137852518 GRCh38 Chromosome X, 153870403: 153870403
5 L1CAM L1CAM, 1.3-KB DUP duplication Pathogenic
6 L1CAM NM_000425.4(L1CAM): c.1354G> A (p.Gly452Arg) single nucleotide variant Pathogenic rs137852520 GRCh37 Chromosome X, 153134321: 153134321
7 L1CAM NM_000425.4(L1CAM): c.1354G> A (p.Gly452Arg) single nucleotide variant Pathogenic rs137852520 GRCh38 Chromosome X, 153868866: 153868866
8 L1CAM NM_000425.4(L1CAM): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs137852521 GRCh37 Chromosome X, 153136388: 153136388
9 L1CAM NM_000425.4(L1CAM): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs137852521 GRCh38 Chromosome X, 153870933: 153870933
10 L1CAM NM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 GRCh37 Chromosome X, 153128311: 153128311
11 L1CAM NM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 GRCh38 Chromosome X, 153862856: 153862856
12 L1CAM NM_000425.4(L1CAM): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs137852526 GRCh37 Chromosome X, 153135930: 153135930
13 L1CAM NM_000425.4(L1CAM): c.719C> T (p.Pro240Leu) single nucleotide variant Pathogenic rs137852526 GRCh38 Chromosome X, 153870475: 153870475
14 L1CAM NM_000425.4(L1CAM): c.3458-1G> C single nucleotide variant Pathogenic rs879253724 GRCh37 Chromosome X, 153129005: 153129005
15 L1CAM NM_000425.4(L1CAM): c.3458-1G> C single nucleotide variant Pathogenic rs879253724 GRCh38 Chromosome X, 153863550: 153863550
16 MLH1 NM_000249.3(MLH1): c.191A> G (p.Asn64Ser) single nucleotide variant Uncertain significance rs63750952 GRCh37 Chromosome 3, 37038184: 37038184
17 MLH1 NM_000249.3(MLH1): c.191A> G (p.Asn64Ser) single nucleotide variant Uncertain significance rs63750952 GRCh38 Chromosome 3, 36996693: 36996693
18 L1CAM NM_000425.4(L1CAM): c.23delT (p.Val8Glyfs) deletion Pathogenic rs398123362 GRCh37 Chromosome X, 153141269: 153141269
19 L1CAM NM_000425.4(L1CAM): c.23delT (p.Val8Glyfs) deletion Pathogenic rs398123362 GRCh38 Chromosome X, 153875814: 153875814
20 L1CAM NM_000425.4(L1CAM): c.2879delA (p.Glu960Glyfs) deletion Pathogenic rs398123364 GRCh37 Chromosome X, 153130443: 153130443
21 L1CAM NM_000425.4(L1CAM): c.2879delA (p.Glu960Glyfs) deletion Pathogenic rs398123364 GRCh38 Chromosome X, 153864988: 153864988
22 L1CAM NM_000425.4(L1CAM): c.924C> T (p.Gly308=) single nucleotide variant Likely pathogenic rs797044787 GRCh37 Chromosome X, 153135578: 153135578
23 L1CAM NM_000425.4(L1CAM): c.924C> T (p.Gly308=) single nucleotide variant Likely pathogenic rs797044787 GRCh38 Chromosome X, 153870123: 153870123
24 L1CAM NM_000425.4(L1CAM): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs875989884 GRCh37 Chromosome X, 153132155: 153132155
25 L1CAM NM_000425.4(L1CAM): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs875989884 GRCh38 Chromosome X, 153866700: 153866700
26 L1CAM NM_000425.4(L1CAM): c.1615T> G (p.Cys539Gly) single nucleotide variant Likely pathogenic rs886041102 GRCh38 Chromosome X, 153868390: 153868390
27 L1CAM NM_000425.4(L1CAM): c.1615T> G (p.Cys539Gly) single nucleotide variant Likely pathogenic rs886041102 GRCh37 Chromosome X, 153133845: 153133845
28 L1CAM NM_000425.4(L1CAM): c.704T> C (p.Met235Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 153870490: 153870490
29 L1CAM NM_000425.4(L1CAM): c.704T> C (p.Met235Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153135945: 153135945
30 PIK3R2 NM_005027.3(PIK3R2): c.2093A> C (p.His698Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 18169200: 18169200
31 PIK3R2 NM_005027.3(PIK3R2): c.2093A> C (p.His698Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 18280010: 18280010
32 L1CAM NM_000425.4(L1CAM): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153133890: 153133890
33 L1CAM NM_000425.4(L1CAM): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 153868435: 153868435

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 L1CAM MBP TH
2 10.85 NES TH

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 L1CAM MBP TH

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 MBP TH
2 central nervous system development GO:0007417 8.62 MBP NES

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 L1CAM TH

Sources for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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