HSAS
MCID: HYD048
MIFTS: 28

Hydrocephalus with Stenosis of the Aqueduct of Sylvius (HSAS)

Categories: Fetal diseases, Neuronal 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). Affiliated tissues include lung, colon and heart, and related phenotypes are agenesis of corpus callosum and hydrocephalus

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:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus due to congenital stenosis of aqueduct of sylvius 11.8
2 headache associated with sexual activity 11.7
3 masa syndrome 11.6
4 hydrocephalus with cerebellar agenesis 11.3
5 congenital analbuminemia 11.1
6 lung cancer 10.3
7 hydrocephalus 10.3
8 intestinal pseudo-obstruction 10.3
9 hepatocellular carcinoma 10.3
10 small cell cancer of the lung 10.3
11 adenocarcinoma 10.3
12 colorectal cancer 10.3
13 gastric cancer 10.3
14 breast cancer 10.2
15 glioma 10.2
16 squamous cell carcinoma 10.2
17 prostate cancer 10.1
18 renal cell carcinoma, nonpapillary 10.1
19 osteogenic sarcoma 10.1
20 cervical cancer 10.1
21 lung cancer susceptibility 3 10.1
22 bladder cancer 10.1
23 hirschsprung disease 1 10.1
24 porencephaly 10.1
25 leukemia 10.1
26 ovarian cancer 10.0
27 pancreatic ductal adenocarcinoma 10.0
28 lymphocytic leukemia 10.0
29 astrocytoma 10.0
30 lupus erythematosus 10.0
31 esophageal cancer 10.0
32 systemic lupus erythematosus 10.0
33 oral squamous cell carcinoma 10.0
34 thyroid cancer 10.0
35 clear cell renal cell carcinoma 10.0
36 chronic fatigue syndrome 10.0
37 oral cancer 10.0
38 hypoxia 10.0
39 diabetes insipidus, nephrogenic, autosomal 9.9
40 adrenoleukodystrophy 9.9
41 hemophilia a 9.9
42 incontinentia pigmenti 9.9
43 diabetes insipidus 9.9
44 hemophilia 9.9
45 polymicrogyria 9.9
46 adrenomyeloneuropathy 9.9
47 pachygyria 9.9
48 diabetes mellitus, noninsulin-dependent 9.9
49 thyroid cancer, nonmedullary, 1 9.9
50 neuroblastoma 9.9

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

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

MalaCards organs/tissues related to Hydrocephalus with Stenosis of the Aqueduct of Sylvius:

41
Lung, Colon, Heart, Prostate, Pancreas, Thyroid, Testis

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 29)
# 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
26 L1CAM NM_000425.4(L1CAM): c.704T> C (p.Met235Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 153870490: 153870490
27 L1CAM NM_000425.4(L1CAM): c.704T> C (p.Met235Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153135945: 153135945
28 L1CAM NM_000425.4(L1CAM): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153133890: 153133890
29 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 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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