MCID: HYD006
MIFTS: 56

Hydrocephalus malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Gastrointestinal diseases categories

Aliases & Classifications for Hydrocephalus

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Hydrocephalus, Aliases & Descriptions:

Name: Hydrocephalus 30 9 41 42 11 43 22 32 60
Hydrocephalus, Nonsyndromic, Autosomal Recessive 9
Hydrocephalus, X-Linked 9
 
Ventriculomegaly 41
Hydrocephaly 41


Classifications:



External Ids:

Disease Ontology9 DOID:10908
NCIt38 C3111
ICD1025 G91

Summaries for Hydrocephalus

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NINDS:42 Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal fluid (CSF) -- the clear fluid that surrounds the brain and spinal cord. This excessive accumulation results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain. Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by genetic abnormalities or Acquired hydrocephalus develops at the time of birth or at some point afterward and can affect individuals of all ages. For example, h Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to CSF. In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or an unusually large head size. In older children and adults, symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk, which is part of the optic nerve), downward deviation of the eyes (called "sunsetting"), problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of development (in children), lethargy, drowsiness, irritability, or other changes in personality or cognition, including memory loss. Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computer tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques.

MalaCards based summary: Hydrocephalus, also known as hydrocephalus, nonsyndromic, autosomal recessive, is related to normal pressure hydrocephalus and mental retardation. An important gene associated with Hydrocephalus is L1CAM (L1 cell adhesion molecule), and among its related pathways are Kit Receptor Signaling Pathway and AMPK signaling. The compounds spec-t and 4-hydroxynonenal have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related mouse phenotypes are muscle and tumorigenesis.

Disease Ontology:9 A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.

NIH Rare Diseases:41 Hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. although it was once known as "water on the brain," the "water" is actually cerebrospinal fluid (csf) - clear fluid that surrounds the brain and spinal cord. excess csf builds up when it cannot drain from the brain due to a blockage in a passage through which the fluid normally flows.  this excess fluid causes an abnormal widening of spaces in the brain called ventricles; this can create harmful pressure on brain tissue. symptoms vary with age, disease progression, and individual differences in tolerance to the condition. hydrocephalus may be congenital (present at birth) or acquired. the causes are not fully understood; it may result from inherited genetic abnormalities or developmental disorders; complications of premature birth; diseases such as meningitis; tumors; traumatic head injury; or other causes. it is most often treated by surgically inserting a shunt system. last updated: 8/22/2011

MedlinePlus:32 Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. normally, this fluid cushions your brain. when you have too much, though, it puts harmful pressure on your brain. hydrocephalus can be congenital, or present at birth. causes include genetic problems and problems with how the fetus develops. an unusually large head is the main sign of congenital hydrocephalus. hydrocephalus can also happen after birth. this is called acquired hydrocephalus. it can occur at any age. causes can include head injuries, strokes, infections, tumors, and bleeding in the brain. symptoms include headache vomiting and nausea blurry vision balance problems bladder control problems thinking and memory problems hydrocephalus can permanently damage the brain, causing problems with physical and mental development. if untreated, it is usually fatal. with treatment, many people lead normal lives with few limitations. treatment usually involves surgery to insert a shunt. a shunt is a flexible but sturdy plastic tube. the shunt moves the cerebrospinal fluid to another area of the body where it can be absorbed. medicine and rehabilitation therapy can also help. nih: national institute of neurological disorders and stroke

Wikipedia:63 Hydrocephalus (from Greek hydro-, meaning \"water\", and ceph, meaning \"head\") is a medical condition... more...

Related Diseases for Hydrocephalus

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Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus Due to Aqueductal Stenosis
Hydrocephalus Autosomal Recessive Nonsyndromic Hydrocephalus, Ccdc88c-Related
Congenital Hydrocephalus

Diseases related to Hydrocephalus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 876)
idRelated DiseaseScoreTop Affiliating Genes
1normal pressure hydrocephalus31.5PTGDS, MAPT
2mental retardation29.9MAPT, TSC1, L1CAM
3obstructive hydrocephalus11.0
4communicating hydrocephalus11.0
5cerebritis10.7
6meningitis10.7
7congenital hydrocephalus10.6
8aneurysm10.5
9hydrocephalus due to aqueductal stenosis10.5
10myelomeningocele10.5
11arachnoiditis10.5
12choroiditis10.5
13dementia10.5
14tuberculous meningitis10.5
15syringomyelia10.5
16arachnoid cysts10.3
17cerebral atrophy10.3
18choroid plexus papilloma10.3
19masa syndrome10.3
20congenital communicating hydrocephalus10.3
21vacterl hydrocephaly10.3
22polymicrogyria10.3
23meningoencephalitis10.3
24intracranial hypertension10.3
25encephalocele10.3
26dandy-walker syndrome10.3
27polydactyly10.3
28walker-warburg syndrome10.3
29chiari malformation10.3
30papilloma10.2
31myelocystocele10.2
32spina bifida aperta10.2
33vacterl association with hydrocephaly, x-linked10.2
34achondroplasia10.2
35bor-duane hydrocephalus contiguous gene syndrome10.2
36peritonitis10.2
37hec syndrome10.2
38megalencephaly, polymicrogyria, and hydrocephalus syndrome10.2
39thoracic dysplasia hydrocephalus syndrome10.2
40hydrocephalus, nonsyndromic, autosomal recessive10.2
41arteriovenous malformation10.2
42porencephaly10.2
43bacterial meningitis10.2
44cervicitis10.2
45ependymoma10.2
46neurosarcoidosis10.2
47neural tube defects10.2
48craniosynostosis10.2
49primary ciliary dyskinesia10.2
50hydranencephaly10.2

Graphical network of the top 20 diseases related to Hydrocephalus:



Diseases related to hydrocephalus

Symptoms for Hydrocephalus

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Drugs & Therapeutics for Hydrocephalus

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Drug clinical trials:

Search ClinicalTrials for Hydrocephalus

Search NIH Clinical Center for Hydrocephalus

Genetic Tests for Hydrocephalus

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Genetic tests related to Hydrocephalus:

id Genetic test Affiliating Genes
1 Hydrocephalus22

Anatomical Context for Hydrocephalus

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MalaCards organs/tissues related to Hydrocephalus:

31
Brain, Spinal cord, Testes, Eye, Pituitary, Pineal, Bone, Heart, Liver, Thalamus, Cortex, Endothelial, Spleen, Small intestine, Kidney, Lung, Placenta, B cells, Occipital lobe, Olfactory bulb, Hypothalamus

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hydrocephalus:
id TissueAnatomical CompartmentCell Relevance
1 BrainChoroid PlexusChoroid Plexus Progenitor Cells Affected by disease
2 BrainChoroid PlexusMature Choroid Plexus Cells Affected by disease

Animal Models for Hydrocephalus or affiliated genes

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MGI Mouse Phenotypes related to Hydrocephalus:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0PIK3R2, TGFB1, TSC1, MAPT, HYDIN
2MP:00020067.6MAPT, TSC1, TGFB1, PTGDS, PIK3R2
3MP:00107717.5L1CAM, PTGDS, TGFB1, TSC1, MAPT
4MP:00107687.4HYDIN, MAPT, TSC1, TGFB1, PTGDS, L1CAM
5MP:00053867.3L1CAM, PTGDS, TGFB1, TSC1, MAPT, HYDIN

Publications for Hydrocephalus

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Articles related to Hydrocephalus:

(show top 50)    (show all 1973)
idTitleAuthorsYear
1
Optimized surgical treatment for normal pressure hydrocephalus: comparison between gravitational and differential pressure valves. (25666108)
2015
2
DTI-MRI biomarkers in the search for normal pressure hydrocephalus aetiology: a review. (25345377)
2014
3
Hydrocephalus shunt technology: 20 years of experience from the Cambridge Shunt Evaluation Laboratory. (24405071)
2014
4
Evidence for spatial navigational impairments in hydrocephalus patients without spina bifida. (23959082)
2013
5
Harvey Cushing's early management of hydrocephalus: an historical picture of the conundrum of hydrocephalus until modern shunts after WWII. (22944467)
2013
6
Hydrocephalus after intraventricular hemorrhage: the role of thrombin. (24326390)
2013
7
VACTERL association with hydrocephalus in a fetus conceived by inA vitro fertilization and embryo transfer. (24411047)
2013
8
Communicating hydrocephalus and vestibular schwannomas: etiology, treatment, and long-term follow-up. (24436891)
2013
9
Thrombin-induced TGF-I^1 pathway: a cause of communicating hydrocephalus post subarachnoid hemorrhage. (23338707)
2013
10
Hydrocephalus in tuberculous meningitis: Incidence, its predictive factors and impact on the prognosis. (23291048)
2013
11
New and improved ways to treat hydrocephalus: Pursuit of a smart shunt. (23653889)
2013
12
Journal club: role of endoscopic third ventriculostomy and ventriculoperitoneal shunt in idiopathic normal pressure hydrocephalus: preliminary results of a randomized clinical trial. (24141398)
2013
13
Obstructive hydrocephalus caused by giant basilar artery aneurysm. (23545619)
2013
14
Normal pressure hydrocephalus in the spectrum of neurological complications of systemic lupus erythematosus. (22829132)
2013
15
Visual disturbance following shunt malfunction in a patient with congenital hydrocephalus. (23183081)
2012
16
Proptosis as the presenting sign of giant prolactinoma in a prepubertal boy: successful resolution of hydrocephalus by use of medical therapy. (23231524)
2012
17
Microscopic supraciliary approach for terminal laminotomy for treatment of hydrocephalus: a preliminary report of eight cases. (23015337)
2012
18
Assessment of a quick reference table algorithm for determining initial postoperative pressure settings of programmable pressure valves in patients with idiopathic normal pressure hydrocephalus: SINPHONI subanalysis. (22653392)
2012
19
A pitfall of neuroendoscopic intraventricular hematoma removal - delayed obstructive hydrocephalus caused by a small remnant clot - case report - . (21515952)
2011
20
Spontaneous intracerebral hemorrhage with ventricular extension and the grading of obstructive hydrocephalus: the prediction of outcome of a special life-threatening entity. (20948399)
2010
21
Implication of 5-aminolevulinic acid fluorescence of the ventricular wall for postoperative communicating hydrocephalus associated with cerebrospinal fluid dissemination in patients with glioblastoma multiforme: a report of 7 cases. (19747042)
2010
22
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. (19763591)
2010
23
CSF neurotransmitter metabolites and neuropsychiatric symptomatology in patients with normal pressure hydrocephalus. (19046799)
2009
24
Shunting in hydrocephalus due to tuberculous meningitis. Cases presenting with high cerebrospinal fluid proteins in pediatric age. (19546843)
2009
25
Normal pressure hydrocephalus after radiosurgery for sphenoid ridge meningioma. (19013812)
2009
26
Morphologic features and flow void phenomenon in normal pressure hydrocephalus and other dementias: are they really significant? (19717316)
2009
27
Clinical improvement in two dogs with hydrocephalus and syringohydromyelia after ventriculoperitoneal shunting. (18271823)
2008
28
Endoscopic third ventriculostomy in prepontine-suprasellar tuberculoma with tuberculous meningitis hydrocephalus: a case report. (17190988)
2007
29
Gait disturbance in normal pressure hydrocephalus: a clinical study. (17052947)
2007
30
Cerebrospinal fluid tau, phospho-tau181 and beta-amyloid1-42 in idiopathic normal pressure hydrocephalus: a discrimination from Alzheimer's disease. (17250725)
2007
31
Baseline neuropsychological profile and cognitive response to cerebrospinal fluid shunting for idiopathic normal pressure hydrocephalus. (16020945)
2005
32
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
33
Pulse wave encephalopathy: a spectrum hypothesis incorporating Alzheimer's disease, vascular dementia and normal pressure hydrocephalus. (14962623)
2004
34
Giant fusiform basilar artery aneurysm causing obstructive hydrocephalus. (17167680)
2002
35
Clinical experiences with different valve systems in patients with normal-pressure hydrocephalus: evaluation of the Miethke dual-switch valve. (12172931)
2002
36
Effects of ventriculoperitoneal shunt removal on cerebral oxygenation and brain compliance in chronic obstructive hydrocephalus. (11302655)
2001
37
Acute obstructive hydrocephalus complicating bacterial meningitis. Use of dexamethasone remains contentious. (10068234)
1999
38
Progressive hydrocephalus in Noonan syndrome. (9354850)
1997
39
Neuropathology and immunohistochemistry of the brain-stem in neonates with congenital hydrocephalus: comparative studies between aqueductal stenosis and Arnold-Chiari malformation. (7529958)
1994
40
Intermittent downbeat nystagmus secondary to vermian arachnoid cyst with associated obstructive hydrocephalus. (1838553)
1991
41
Hydrocephalus of intrauterine onset in perinatally lethal osteogenesis imperfecta: clinical, sonographic, and pathologic correlations. (3062601)
1988
42
The value of CSF flow studies in infants with communicating hydrocephalus. (3779670)
1986
43
Bilateral internuclear ophthalmoplegia due to hydrocephalus: a case report. (4069338)
1985
44
Gait apraxia in communicating hydrocephalus. (7241157)
1981
45
Ultrastructure of the ependyma in the lateral ventricles of primates with experimental communicating hydrocephalus. (118517)
1979
46
Hydrocephalus associated with arterio-venous malformation - the vein of Galen aneurysm. (551620)
1979
47
Chronic communicating hydrocephalus with normal CSE pressures: a cisternographic-pathologic correlation. (4462439)
1974
48
Use of silastic to produce communicating hydrocephalus. (4690951)
1973
49
Hydrodynamic properties of certain shunt assemblies for the treatment of hydrocephalus. l. Report of a case of communicating hydrocephalus with increased cerebrospinal fluid production treated by duplication of shunting device. 2. Pressure-flow characteristics of the Spitz-Holter, Pudenz-Heyer, and Cordis-Hakim shunt systems. (5306449)
1969
50
A Case of Encephalocele: Removal: Hydrocephalus: Death. (20754704)
1894

Variations for Hydrocephalus

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Clinvar genetic disease variations for Hydrocephalus:

6
id Gene Variation Type Significance SNP ID Assembly Location
1L1CAMNM_000425.4(L1CAM): c.719C> T (p.Pro240Leu)single nucleotide variantPathogenicrs137852526GRCh37Chr X, 153135930: 153135930
2L1CAMNM_000425.4(L1CAM): c.791G> A (p.Cys264Tyr)single nucleotide variantPathogenicrs137852518GRCh37Chr X, 153135858: 153135858
3L1CAMNM_000425.4(L1CAM): c.1354G> A (p.Gly452Arg)single nucleotide variantPathogenicrs137852520GRCh37Chr X, 153134321: 153134321
4L1CAMNM_000425.4(L1CAM): c.551G> A (p.Arg184Gln)single nucleotide variantPathogenicrs137852521GRCh37Chr X, 153136388: 153136388
5L1CAMNM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu)single nucleotide variantPathogenicrs137852522GRCh37Chr X, 153128311: 153128311

Expression for genes affiliated with Hydrocephalus

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Search GEO for disease gene expression data for Hydrocephalus.

Pathways for genes affiliated with Hydrocephalus

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Pathways related to Hydrocephalus according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.5PIK3R2, MPDZ
29.5TSC1, PIK3R2
39.5TSC1, PIK3R2
49.5PIK3R2, TSC1
59.3PIK3R2, TGFB1
69.3PIK3R2, TGFB1
79.3TGFB1, PIK3R2
8
Show member pathways
9.0L1CAM, PIK3R2, TGFB1
9
Show member pathways
8.9TGFB1, PIK3R2, MPDZ
10
Show member pathways
8.9PIK3R2, TGFB1, TSC1
11
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.9TGFB1, TSC1, PIK3R2
12
Show member pathways
8.4MAPT, TSC1, TGFB1, PIK3R2

Compounds for genes affiliated with Hydrocephalus

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Hydrocephalus according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1spec-t439.6MAPT, TSC1
24-hydroxynonenal43 2410.3MAPT, TGFB1
3paraffin438.9TGFB1, TSC1, MAPT
4silver438.8MAPT, PTGDS
5threonine438.5MAPT, TSC1, TGFB1, PIK3R2
6creatinine438.4MAPT, TGFB1, PTGDS

GO Terms for genes affiliated with Hydrocephalus

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Biological processes related to Hydrocephalus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.0TGFB1, L1CAM, PIK3R2
2myelinationGO:00425528.7TSC1, TGFB1, MPDZ

Molecular functions related to Hydrocephalus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:00436219.6CCDC88C, L1CAM
2protein N-terminus bindingGO:00474859.4TSC1, TGFB1

Products for genes affiliated with Hydrocephalus

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Sources for Hydrocephalus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet