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MCID: HYD019
MIFTS: 41

Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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

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


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Summaries for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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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 Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are hydrocephalus and macrocephaly

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

Description 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, Nonsyndromic, Autosomal Recessive 1
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
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 68)
# Related Disease Score Top Affiliating Genes
1 congenital hydrocephalus 31.5 L1CAM MBP
2 hydrocephalus 29.1 L1CAM MBP NES
3 agammaglobulinemia, x-linked 12.1
4 enamel hypoplasia, cataracts, and aqueductal stenosis 12.1
5 headache associated with sexual activity 11.5
6 isolated growth hormone deficiency, type iii 11.5
7 masa syndrome 11.4
8 mohr-tranebjaerg syndrome 11.3
9 hydrocephalus with stenosis of the aqueduct of sylvius 11.1
10 congenital analbuminemia 10.9
11 agammaglobulinemia 1, autosomal recessive 10.9
12 agammaglobulinemia 10.5
13 obstructive hydrocephalus 10.2
14 lung cancer 10.2
15 prostatitis 10.1
16 breast cancer 10.1
17 gastric cancer 10.1
18 small cell cancer of the lung 10.1
19 communicating hydrocephalus 10.1
20 prostate cancer 10.1
21 colorectal cancer 10.0
22 hepatocellular carcinoma 10.0
23 adenocarcinoma 10.0
24 encephalocele 10.0
25 renal cell carcinoma, nonpapillary 10.0
26 leukemia 10.0
27 glioma 10.0
28 neural tube defects 9.9
29 chiari malformation type ii 9.9
30 hydrocephalus, normal-pressure 9.9
31 3-methylglutaconic aciduria, type iii 9.9
32 chiari malformation 9.9
33 rhombencephalosynapsis 9.9
34 astrocytoma 9.9
35 kidney clear cell sarcoma 9.9 NES TH
36 alport syndrome, x-linked 9.9
37 neutropenia 9.9
38 protein-losing enteropathy 9.9
39 pancytopenia 9.9
40 cellulitis 9.9
41 hemifacial microsomia with radial defects 9.8
42 hemifacial microsomia 9.8
43 urofacial syndrome 1 9.8
44 panencephalitis, subacute sclerosing 9.8
45 holoprosencephaly 9.8
46 osteopetrosis 9.8
47 primary ciliary dyskinesia 9.8
48 myelomeningocele 9.8
49 mumps 9.8
50 meningoencephalitis 9.8

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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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 hydrocephalus 32 HP:0000238
2 macrocephaly 32 HP:0000256
3 adducted thumb 32 HP:0001181
4 intellectual disability 32 HP:0001249
5 spasticity 32 HP:0001257
6 spastic paraplegia 32 HP:0001258
7 agenesis of corpus callosum 32 HP:0001274
8 absent septum pellucidum 32 HP:0001331
9 aqueductal stenosis 32 HP:0002410
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
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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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
2 Anticonvulsants Phase 3
3 Carbonic Anhydrase Inhibitors Phase 3
4 diuretics Phase 3
5 Natriuretic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill

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 Aqueductal Stenosis 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:

41
Brain
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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 all 44)
# Title Authors Year
1
Congenital aqueduct stenosis: Progressive brain findings in utero to birth in the presence of severe hydrocephalus. ( 29927492 )
2018
2
Clinical analysis of aqueductal stenosis in patients with hydrocephalus in a Kenyan setting. ( 28533829 )
2017
3
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. ( 27841240 )
2016
4
Uncovering the New Cause of Obstructive Hydrocephalus Following Subarachnoid Hemorrhage; the Choroidal Artery Vasospasm Related Ependymal Cell Degeneration and Aqueductal Stenosis: First Experimental Study. ( 27020981 )
2016
5
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
6
Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. ( 24633306 )
2014
7
Transethmoidal encephalocele after reduction of high intracranial pressure in aqueductal stenosis. ( 24535796 )
2014
8
Obstructive hydrocephalus following aqueductal stenosis caused by supra- and infratentorial developmental venous anomaly: case report. ( 23053361 )
2013
9
Hydrocephalus due to aqueductal stenosis in a case of mumps meningoencephalitis: A rare complication. ( 24082949 )
2013
10
Genetic deletion of Rnd3 results in aqueductal stenosis leading to hydrocephalus through up-regulation of Notch signaling. ( 23630292 )
2013
11
Neuropsychological profiles of children with aqueductal stenosis and Spina Bifida myelomeningocele. ( 23153482 )
2013
12
Letter to the editor: Hydrocephalus as a cause of chorea in a patient with aqueductal stenosis. ( 24272413 )
2013
13
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
14
Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis. ( 22290861 )
2012
15
Relapsing dorsal midbrain syndrome following interventions for hydrocephalus in aqueductal stenosis. ( 22297265 )
2012
16
Unusual mesencephalic developmental venous anomaly causing obstructive hydrocephalus due to aqueductal stenosis. ( 21961550 )
2011
17
Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis. ( 22346242 )
2011
18
Adult aqueductal stenosis presenting as a thunderclap headache: a case report. ( 17655718 )
2007
19
Indications for neuroendoscopic aqueductoplasty without stenting for obstructive hydrocephalus due to aqueductal stenosis. ( 16015489 )
2005
20
Differences in cerebrospinal fluid dynamics do not affect the levels of biochemical markers in ventricular CSF from patients with aqueductal stenosis and idiopathic normal pressure hydrocephalus. ( 14692883 )
2004
21
Differential patterns of cognitive impairment in patients with aqueductal stenosis and normal pressure hydrocephalus. ( 15480831 )
2004
22
Regional ependymal upregulation of vimentin in Chiari II malformation, aqueductal stenosis, and hydromyelia. ( 15255035 )
2004
23
[A case of the spinal subdural hematoma formation following ventriculoperitoneal shunting for von Recklinghausen's disease associated with aqueductal stenosis]. ( 11218767 )
2001
24
Secondary amenorrhea caused by hydrocephalus due to aqueductal stenosis : report of two cases. ( 11511805 )
2001
25
Endoscopic third ventriculostomy in the management of obstructive hydrocephalus caused by aqueductal stenosis. ( 11272797 )
2000
26
Subacute sclerosing panencephalitis in a case of aqueductal stenosis. ( 10638128 )
1999
27
Parkinsonism associated with obstructive hydrocephalus due to idiopathic aqueductal stenosis. ( 9598684 )
1998
28
Autosomal recessive hydrocephalus with aqueductal stenosis. ( 8739404 )
1996
29
[Pathology of congenital aqueductal stenosis and posthemorrhagic hydrocephalus]. ( 8185973 )
1994
30
Neuropathology and immunohistochemistry of the brain-stem in neonates with congenital hydrocephalus: comparative studies between aqueductal stenosis and Arnold-Chiari malformation. ( 7529958 )
1994
31
Prenatal aqueductal stenosis as a cause of congenital hydrocephalus in the inbred rat LEW/Jms. ( 1933919 )
1991
32
Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. ( 1897575 )
1991
33
Hypothalamic obesity due to hydrocephalus caused by aqueductal stenosis. ( 2292705 )
1990
34
Optic atrophy in aqueduct stenosis. ( 2787249 )
1989
35
Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure. ( 4035586 )
1985
36
Occipital encephalocele with holoprosencephaly and aqueduct stenosis. ( 524253 )
1979
37
Communicating hydrocephalus as a cause of aqueductal stenosis. ( 315451 )
1979
38
Progressive "empty sella" syndrome, gonadotropins deficiency and congenital aqueductal stenosis. Case report. ( 675129 )
1978
39
Ventriculitis, aqueductal stenosis and hydrocephalus in neonatal meningitis: diagnose and treatment. ( 631903 )
1978
40
Communicating hydrocephalus causing aqueductal stenosis. ( 1036765 )
1976
41
Cerebrospinal fluid pressure-gradients in spina bifida cystica, with special reference to the Arnold-Chiari malformation and aqueductal stenosis. ( 1107112 )
1975
42
Foster Kennedy syndrome, aqueductal stenosis and empty sella. ( 4546807 )
1974
43
New mutant mouse with communicating hydrocephalus and secondary aqueductal stenosis. ( 4116482 )
1972
44
The sella in aqueduct stenosis and communicating hydrocephalus. ( 5428681 )
1970
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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
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XX;inv(2)(p11q13)dn inversion Uncertain significance
2 PIK3R2 NM_005027.3(PIK3R2): c.2093A> C (p.His698Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 18169200: 18169200
3 PIK3R2 NM_005027.3(PIK3R2): c.2093A> C (p.His698Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 18280010: 18280010

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
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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 L1CAM MBP TH
2
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
10.85 NES TH
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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 axon GO:0030424 8.96 L1CAM TH
2 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
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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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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