MCID: HYD006
MIFTS: 60

Hydrocephalus malady

Neuronal, Fetal categories

Summaries for Hydrocephalus

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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: Hydrocephalus, also known as hydrocephalus, nonsyndromic, autosomal recessive, is related to normal pressure hydrocephalus and obstructive hydrocephalus, and has symptoms including autosomal recessive inheritanceand hydrocephaly. An important gene associated with Hydrocephalus is CCDC88C (coiled-coil domain containing 88C), and among its related pathways is Transcriptional Regulatory Network in Embryonic Stem Cell. The compounds paraffin and histamine have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and nervous system.

NIH Rare Diseases:43 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:34 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:64 Hydrocephalus[a]/ˌhaɪdrɵˈsɛfələs/, also known as \"water on the brain,\" is a medical condition... more...

Description from OMIM:47 236600,615219

Aliases & Classifications for Hydrocephalus

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 44NINDS, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 9diseasecard, 47OMIM, 49Orphanet, 35MeSH, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Aliases & Descriptions:

hydrocephalus 8 43 22 44 10 45 34 61
hydrocephalus, nonsyndromic, autosomal recessive 8 9 47
congenital hydrocephalus 49
ventriculomegaly 43
hydrocephaly 43


External Ids:

Disease Ontology8 DOID:10908
NCIt40 C3111
ICD10 via Orphanet26 Q03
ICD1025 Q03

Related Diseases for Hydrocephalus

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hydrocephalus family:

hydrocephalus due to congenital stenosis of aqueduct of sylvius hydrocephalus due to aqueductal stenosis
hydrocephalus with hirschsprung disease hydrocephalus with congenital idiopathic intestinal pseudoobstruction

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

(show top 50)    (show all 725)
idRelated DiseaseScoreTop Affiliating Genes
1normal pressure hydrocephalus31.6PTGDS, MAPT, NPY
2obstructive hydrocephalus31.4TSC1
3baller-gerold syndrome29.8TWIST1, RECQL4
4adenocarcinoma29.6TSC1, MAPT, TGFB1, AQP4
5spina bifida10.5
6tuberculous meningitis10.5
7syringomyelia10.5
8myelomeningocele10.4
9n syndrome10.4
10cerebral atrophy10.3
11posterior fossa tumors10.3
12megalencephaly10.3
13choroid plexus papilloma10.3
14congenital communicating hydrocephalus10.3
15meningoencephalitis10.3
16polymicrogyria10.3
17encephalocele10.3
18megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome10.3
19polydactyly10.2
20vacterl hydrocephaly10.2
21dandy-walker syndrome10.2
22arachnoiditis10.2
23alzheimer's disease10.2
24megalencephaly, polymicrogyria, and hydrocephalus syndrome10.2
25hydrocephalus due to aqueductal stenosis10.2
26arteriovenous malformation10.2
27bacterial meningitis10.2
28ependymoma10.2
29hydrocephalus autosomal recessive10.2
30porencephaly10.2
31neurosarcoidosis10.2
32achondroplasia10.2
33hydranencephaly10.2
34corpus callosum agenesis10.2
35bor-duane hydrocephalus contiguous gene syndrome10.2
36thoracic dysplasia hydrocephalus syndrome10.2
37mental retardation10.2
38lissencephaly 110.1
39vacterl association with hydrocephaly, x-linked10.1
40proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome10.1
41vacterl association10.1
42primary ciliary dyskinesia10.1
43pseudotumor cerebri10.1
44walker-warburg syndrome10.1
45hypertensive encephalopathy10.1
46akinetic mutism10.1
47mutism10.1
48mumps10.1
49l1 syndrome10.1
50hydrocephalus due to congenital stenosis of aqueduct of sylvius10.1

Graphical network of the top 20 diseases related to Hydrocephalus:



Diseases related to hydrocephalus

Clinical Features for Hydrocephalus

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

236600,615219

Clinical synopsis from OMIM:

236600

Symptoms:

49
  • autosomal recessive inheritance
  • hydrocephaly

Drugs & Therapeutics for Hydrocephalus

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hydrocephalus

Drug clinical trials:

Search ClinicalTrials for Hydrocephalus

Search NIH Clinical Center for Hydrocephalus

Search CenterWatch for Hydrocephalus

Genetic Tests for Hydrocephalus

Sources:
22GTR
See all sources

Genetic tests related to Hydrocephalus:

id Genetic test Affiliating Genes
1 Hydrocephalus22

Anatomical Context for Hydrocephalus

Sources:
31LifeMap Discovery™
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LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hydrocephalus

Sources:
51PubMed
See all sources

Articles related to Hydrocephalus:

(show top 50)    (show all 1893)
idTitleAuthorsYear
1
Hydrocephalus after intraventricular hemorrhage: the role of thrombin. (24326390)
2013
2
Design and benchmark testing of a bicorporal pump for the treatment of normal-pressure hydrocephalus and idiopathic intracranial hypertension. (23215632)
2013
3
Endoscopic third ventriculostomy for post-operative hydrocephalus in Chiari I malformation. (23298377)
2013
4
Diffusion tensor imaging findings associated with cognitive performance in hydrocephalus patients. (24343473)
2013
5
Role of magnetic resonance ventriculography in multiloculated hydrocephalus. (23540526)
2013
6
Technology preferences among caregivers of children with hydrocephalus. (23092227)
2013
7
Clinical equipoise in idiopathic normal pressure hydrocephalus: a survey of physicians on the need for randomized controlled trials assessing the efficacy of cerebrospinal fluid diversion. (24012011)
2013
8
Persistent petrosquamosal sinus: underlying cause of otitic hydrocephalus with lateral sinus thrombosis. (24063770)
2013
9
Visual disturbance following shunt malfunction in a patient with congenital hydrocephalus. (23183081)
2012
10
Lumboperitoneal shunts for the treatment of normal pressure hydrocephalus. (22705135)
2012
11
Ventriculoperitoneal shunt for intracranial hypertension in cryptococcal meningitis without hydrocephalus. (22658489)
2012
12
Successful medical treatment in a child with E. coli ESBL meningitis with acute communicating hydrocephalus and ventricular empyema: a case report. (23513480)
2012
13
Prototheca wickerhamii as a cause of neuroinfection in a child with congenital hydrocephalus. First case of human protothecosis in Poland. (22858361)
2012
14
Efficacy of endoscopic third ventriculostomy in non-communicating hydrocephalus. (24397077)
2012
15
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. (22190277)
2012
16
Unusual patient with multiple sclerosis and shunt-responsive normal-pressure hydrocephalus. (21461687)
2012
17
Endoscopic third ventriculostomy versus ventriculoperitoneal shunt in the treatment of obstructive hydrocephalus due to posterior fossa tumors in children. (20737274)
2011
18
Use of the proGAV shunt valve in normal-pressure hydrocephalus. (21368692)
2011
19
Normal-pressure hydrocephalus and cerebral blood flow. (20367076)
2010
20
Changes in the volumes of the brain and cerebrospinal fluid spaces after shunt surgery in idiopathic normal-pressure hydrocephalus. (20663514)
2010
21
Brain drain: A bottom-up approach to normal pressure hydrocephalus. (20976762)
2010
22
Prenatal diagnosis of obstructive hydrocephalus associated with parvovirus B19 infection. (20664440)
2010
23
Morphologic features and flow void phenomenon in normal pressure hydrocephalus and other dementias: are they really significant? (19717316)
2009
24
Surgical outcome of tuberculous meningitis hydrocephalus treated by endoscopic third ventriculostomy: prognostic factors and postoperative neuroimaging for functional assessment of ventriculostomy. (19409015)
2009
25
High CSF transforming growth factor beta levels after subarachnoid haemorrhage: association with chronic communicating hydrocephalus. (19066194)
2009
26
Idiopathic normal pressure hydrocephalus: increased supplementary motor activity accounts for improvement after CSF drainage. (18931387)
2008
27
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
28
Normal-pressure hydrocephalus: white matter lesions correlate negatively with gait improvement after lumbar puncture. (17768003)
2007
29
Predictive assessment of shunt effectiveness in patients with idiopathic normal pressure hydrocephalus by determining regional cerebral blood flow on 3D stereotactic surface projections. (17680175)
2007
30
Intrauterine shunt for obstructive hydrocephalus--still not ready. (16969010)
2006
31
Analysis of intracranial pressure during and after the infusion test in patients with communicating hydrocephalus. (16311451)
2005
32
Value of neuropsychological information for improved understanding of the patient with normal-pressure hydrocephalus. (16028753)
2005
33
Endoscopic third ventriculostomy in the management of obstructive hydrocephalus: an outcome analysis. (15070116)
2004
34
Severe hydrocephalus associated with congenital varicella syndrome. (12615748)
2003
35
Cerebral blood flow alterations in progressive communicating hydrocephalus: transcranial Doppler ultrasonography assessment in an experimental model. (11213964)
2001
36
Basilar artery occlusion due to mucormycotic emboli, preceded by acute hydrocephalus. (10717397)
2000
37
A murine model of communicating hydrocephalus: Role of TGF-beta1. (18638924)
1997
38
Communicating hydrocephalus in a patient with mixed cryoglobulinemia and chronic hepatitis C. (8697662)
1996
39
New domains of neural cell-adhesion molecule L1 implicated in X- linked hydrocephalus and MASA syndrome. (7762552)
1995
40
A familial coincidence of pseudotumor cerebri and communicating hydrocephalus. (1876253)
1991
41
The pathophysiology of enlarged ventricles in normal pressure communicating hydrocephalus and schizophrenia: a possible therapeutic role for melatonin. (3614004)
1987
42
The fetal subarachnoid cisterns: an ultrasound study with report of a case of congenital communicating hydrocephalus. (3522926)
1986
43
Acute non-communicating hydrocephalus after spontaneous subarachnoid haemorrhage. (3728096)
1986
44
Hydranencephaly versus maximal hydrocephalus: an important clinical distinction. (7354898)
1980
45
External hydrocephalus. Early finding in congenital communicating hydrocephalus. (666616)
1978
46
Adult-onset GM2 gangliosidosis. Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation. (568730)
1978
47
Persistence of intraventricular air after pneumoencephalography: its failure to distinguish between cerebral atrophy and normal pressure hydrocephalus. (1226627)
1975
48
A case of hydrocephalus and meningoencephalocele in a rabbit, caused by aqueductal malformation. (4831737)
1974
49
A pathophysiologic mechanism for ventricular entry of radiopharmaceutical and possible relation to chronic communicating hydrocephalus. (4424608)
1974
50
Cerebrospinal fluid absorption in animals with experimental obstructive hydrocephalus. (5355258)
1969

Genetic Variations for Hydrocephalus

Expression for genes affiliated with Hydrocephalus

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hydrocephalus

Search GEO for disease gene expression data for Hydrocephalus.

Pathways for genes affiliated with Hydrocephalus

Sources:
52QIAGEN
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Pathways related to Hydrocephalus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5FOXC1, L1CAM, ZIC3

Compounds for genes affiliated with Hydrocephalus

Sources:
45Novoseek, 29IUPHAR, 24HMDB
See all sources

Compounds related to Hydrocephalus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1paraffin4510.5TGFB1, TSC1, MAPT, NPY
2histamine45 29 2412.4TGFB1, AQP4, PTGDS, NPY
3kainate45 2911.2NPY, MAPT, TGFB1

GO Terms for genes affiliated with Hydrocephalus

Sources:
16Gene Ontology
See all sources

Biological processes related to Hydrocephalus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of mitotic cell cycleGO:04593010.5TGFB1, FOXC1
2negative regulation of skeletal muscle tissue developmentGO:04864210.5TGFB1, TWIST1
3positive regulation of transcription regulatory region DNA bindingGO:200067910.4TGFB1, TWIST1
4germ cell migrationGO:00835410.2TGFB1, FOXC1

Products for genes affiliated with Hydrocephalus

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hydrocephalus

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet