MCID: HYD048
MIFTS: 20

Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Categories: Neuronal diseases, Fetal diseases, Rare diseases

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

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

Name: Hydrocephalus with Stenosis of the Aqueduct of Sylvius 59
X-Linked Hydrocephalus with Stenosis of Aqueduct of Sylvius 59
X-Linked Hydrocephalus Syndrome 73
X-Linked Acqueductal Stenosis 59
Bickers-Adams Syndrome 59
X-Linked Hydrocephalus 59
X-Linked Hsas 59
Hsas 59

Characteristics:

Orphanet epidemiological data:

59
hydrocephalus with stenosis of the aqueduct of sylvius
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA2182
ICD10 via Orphanet 34 Q03.0
UMLS via Orphanet 74 C0265216
ICD10 33 G91.9 G94.2
UMLS 73 C0265216

Summaries for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

MalaCards based summary : Hydrocephalus with Stenosis of the Aqueduct of Sylvius, also known as x-linked hydrocephalus with stenosis of aqueduct of sylvius, is related to hydrocephalus due to congenital stenosis of aqueduct of sylvius and headache associated with sexual activity, and has symptoms including muscle spasticity An important gene associated with Hydrocephalus with Stenosis of the Aqueduct of Sylvius is L1CAM (L1 Cell Adhesion Molecule). Related phenotypes are hydrocephalus and coarse facial features

Related Diseases for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

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

# Related Disease Score Top Affiliating Genes
1 hydrocephalus due to congenital stenosis of aqueduct of sylvius 11.6
2 headache associated with sexual activity 11.5
3 masa syndrome 11.5
4 hydrocephalus 10.1
5 intestinal pseudo-obstruction 10.1

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



Diseases related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius

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

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

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
3 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 adducted thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001181
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
8 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
9 absent septum pellucidum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001331
10 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
11 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
12 aqueductal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002410
13 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
14 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
15 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864

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


muscle spasticity

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

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

Genetic Tests for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Anatomical Context for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Publications for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

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

# Title Authors Year
1
Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius. ( 15368500 )
2004

Variations for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

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

6
(show all 25)
# 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 L1CAM NM_000425.4(L1CAM): c.23delT (p.Val8Glyfs) deletion Pathogenic rs398123362 GRCh37 Chromosome X, 153141269: 153141269
17 L1CAM NM_000425.4(L1CAM): c.23delT (p.Val8Glyfs) deletion Pathogenic rs398123362 GRCh38 Chromosome X, 153875814: 153875814
18 L1CAM NM_000425.4(L1CAM): c.2879delA (p.Glu960Glyfs) deletion Pathogenic rs398123364 GRCh37 Chromosome X, 153130443: 153130443
19 L1CAM NM_000425.4(L1CAM): c.2879delA (p.Glu960Glyfs) deletion Pathogenic rs398123364 GRCh38 Chromosome X, 153864988: 153864988
20 L1CAM NM_000425.4(L1CAM): c.924C> T (p.Gly308=) single nucleotide variant Likely pathogenic rs797044787 GRCh37 Chromosome X, 153135578: 153135578
21 L1CAM NM_000425.4(L1CAM): c.924C> T (p.Gly308=) single nucleotide variant Likely pathogenic rs797044787 GRCh38 Chromosome X, 153870123: 153870123
22 L1CAM NM_000425.4(L1CAM): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs875989884 GRCh37 Chromosome X, 153132155: 153132155
23 L1CAM NM_000425.4(L1CAM): c.2380C> T (p.Gln794Ter) single nucleotide variant Pathogenic rs875989884 GRCh38 Chromosome X, 153866700: 153866700
24 L1CAM NM_000425.4(L1CAM): c.1615T> G (p.Cys539Gly) single nucleotide variant Likely pathogenic rs886041102 GRCh38 Chromosome X, 153868390: 153868390
25 L1CAM NM_000425.4(L1CAM): c.1615T> G (p.Cys539Gly) single nucleotide variant Likely pathogenic rs886041102 GRCh37 Chromosome X, 153133845: 153133845

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

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

Expression for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

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

Pathways for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

GO Terms for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

Sources for Hydrocephalus with Stenosis of the Aqueduct of Sylvius

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