MCID: HYD006
MIFTS: 70

Hydrocephalus malady

Neuronal diseases, Fetal diseases categories

Summaries for Hydrocephalus

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Sources:
42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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. Affiliated tissues include brain, spinal cord and testes, and related mouse phenotypes are behavior/neurological and nervous system.

NIH Rare Diseases:42 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:33 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[a]/ˌhaɪdrɵˈsɛfələs/, also known as \"water on the brain\", is a medical condition... more...

Description from OMIM:46 236600,615219

Aliases & Classifications for Hydrocephalus

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

hydrocephalus 8 42 22 43 10 44 33 60
hydrocephalus, nonsyndromic, autosomal recessive 8 9 46
congenital hydrocephalus 48
ventriculomegaly 42
hydrocephaly 42


External Ids:

Disease Ontology8 DOID:10908
NCIt39 C3111
ICD10 via Orphanet26 Q03.0, Q03.1, Q03.8 Q03.9, more
SNOMED-CT via Orphanet57 47032000
ICD1025 Q03

Related Diseases for Hydrocephalus

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hydrocephalus Due to Aqueductal Stenosis family:

hydrocephalus Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius
Nonsyndromic Hydrocephalus, Ccdc88c-Related

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

(show top 50)    (show all 706)
idRelated DiseaseScoreTop Affiliating Genes
1normal pressure hydrocephalus31.6NPY, MAPT, PTGDS
2obstructive hydrocephalus31.4TSC1
3dementia30.7MAPT, PTGDS
4hypertension30.6NPY, TGFB1
5intracranial hypertension30.4TSC1
6craniosynostosis30.1TWIST1, RECQL4
7meningioma30.0TSC1, PTGDS
8glaucoma30.0AQP4, FOXC1, NPY
9multiple sclerosis29.8NPY, PTGDS, AQP4, TGFB1
10baller-gerold syndrome29.8TWIST1, RECQL4
11respiratory failure29.6NPY, TSC1
12adenocarcinoma29.6MAPT, TSC1, AQP4, TGFB1
13communicating hydrocephalus11.0
14cerebritis10.7
15meningitis10.7
16choroiditis10.5
17arachnoiditis10.5
18spina bifida10.5
19syringomyelia10.4
20alzheimer's disease10.3
21choroid plexus papilloma10.3
22hydrocephalus due to aqueductal stenosis10.3
23meningoencephalitis10.3
24polymicrogyria10.3
25dandy-walker syndrome10.2
26polydactyly10.2
27papilloma10.2
28myelomeningocele10.2
29peritonitis10.2
30l1 syndrome10.2
31neural tube defects10.2
32megalencephaly, polymicrogyria, and hydrocephalus syndrome10.2
33spina bifida cystica10.2
34myelocystocele10.2
35spina bifida aperta10.2
36vacterl hydrocephaly10.2
37arteriovenous malformation10.2
38bacterial meningitis10.2
39achondroplasia10.1
40hydranencephaly10.1
41cervicitis10.1
42bor-duane hydrocephalus contiguous gene syndrome10.1
43posterior meningocele10.1
44vacterl association with hydrocephaly, x-linked10.1
45proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome10.1
46vacterl association10.1
47hypertensive encephalopathy10.1
48primary ciliary dyskinesia10.1
49neuronitis10.1
50chronic meningitis10.1

Graphical network of the top 20 diseases related to Hydrocephalus:



Diseases related to hydrocephalus

Clinical Features for Hydrocephalus

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

236600,615219

Clinical synopsis from OMIM:

236600

Symptoms:

48
  • autosomal recessive inheritance
  • hydrocephaly

Drugs & Therapeutics for Hydrocephalus

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Sources:
22GTR
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Genetic tests related to Hydrocephalus:

id Genetic test Affiliating Genes
1 Hydrocephalus22

Anatomical Context for Hydrocephalus

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Hydrocephalus:

32
Brain, Spinal cord, Testes, Eye, Pituitary, Pineal, Bone, Liver, Heart, Thalamus, Endothelial, Cortex, Olfactory bulb, Occipital lobe, Hypothalamus, B cells, Placenta, Lung, Kidney, Spleen

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

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Sources:
36MGI
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Publications for Hydrocephalus

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Sources:
50PubMed
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Articles related to Hydrocephalus:

(show top 50)    (show all 1890)
idTitleAuthorsYear
1
Poor cognitive outcome in shunt-responsive idiopathic normal pressure hydrocephalus. (23037817)
2013
2
Armoured brain due to chronic subdural collections masking underlying hydrocephalus. (23421586)
2013
3
Orbital decompression to alleviate intermittent globe subluxation due to massive optic nerve sheath enlargement from chronic hydrocephalus. (23128531)
2013
4
A case of congenital syndromic hydrocephalus: a subtype of 'game-friedman-paradice syndrome'. (23386950)
2013
5
Subarachnoid hemorrhage-induced hydrocephalus in rats. (23212164)
2013
6
Unilateral cortical hyperexcitability in congenital hydrocephalus: A TMS study. (23682715)
2013
7
Computational modelling of hydrocephalus. (23987908)
2013
8
Quality measures for the management of hydrocephalus: concepts, simulations, and preliminary field-testing. (23373623)
2013
9
Reversibility of brain morphology after shunt operations and preoperative clinical symptoms in patients with idiopathic normal pressure hydrocephalus. (23551411)
2013
10
Morphological and behavioral changes in the pathogenesis of a novel mouse model of communicating hydrocephalus. (22291910)
2012
11
Mercury chronic toxicity might be associated to some cases of hydrocephalus in adult humans? (22521429)
2012
12
The role of endoscopic third ventriculostomy in the treatment of communicating hydrocephalus. (22120350)
2012
13
Interest of dual-task-related gait changes in idiopathic normal pressure hydrocephalus. (21749572)
2011
14
Familial normal pressure hydrocephalus (NPH) with an autosomal-dominant inheritance: a novel subgroup of NPH. (21704338)
2011
15
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
16
Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. (21107178)
2010
17
Neuroradiological diagnosis of idiopathic normal-pressure hydrocephalus: the search for the Holy Grail. (19847909)
2009
18
Predicting postresection hydrocephalus in pediatric patients with posterior fossa tumors. (19409016)
2009
19
Sensitivity and predictive value of occupational and physical therapy assessments in the functional evaluation of patients with suspected normal pressure hydrocephalus. (18843422)
2008
20
Successful treatment of a thrombosed posterior cerebral artery aneurysm causing obstructive hydrocephalus. (17981037)
2008
21
Delayed and isolated intraventricular tension pneumocephalus after shunting for normal pressure hydrocephalus. (17272910)
2007
22
Lacunar skull deformity and hydrocephalus in infants with myelomeningocele: is lacunar skull deformity a predictor of hydrocephalus development? (17364208)
2007
23
Cerebral perfusion pattern of idiopathic normal pressure hydrocephalus studied by SPECT and statistical brain mapping. (17373335)
2007
24
When do common symptoms indicate normal pressure hydrocephalus? (16708712)
2006
25
Transient acute obstructive hydrocephalus of unknown origin in a 13-month-old infant. (16996757)
2006
26
Basilar megadolicho trunk causing obstructive hydrocephalus at the foramina of Monro. (16427428)
2006
27
Endoscopic third ventriculostomy in the management of Chiari I malformation and syringomyelia associated with hydrocephalus. (16311156)
2005
28
Tuberculous meningitis and hydrocephalus. (15269460)
2004
29
Normal pressure hydrocephalus: survey on contemporary diagnostic algorithms and therapeutic decision-making in clinical practice. (15057532)
2004
30
Clinical experiences with different valve systems in patients with normal-pressure hydrocephalus: evaluation of the Miethke dual-switch valve. (12172931)
2002
31
Parent and self-report ratings of executive function in adolescents with myelomeningocele and hydrocephalus. (12759823)
2002
32
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. (11148530)
2001
33
Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome? (11152158)
2001
34
Isolated cerebellar edema and obstructive hydrocephalus in a child with cerebral malaria. (11734774)
2001
35
Spontaneous resolution of acute obstructive hydrocephalus in the neonate. (11305774)
2001
36
Normal pressure hydrocephalus in diabetic patients with recurrent episodes of hypoglycemic coma. (10670909)
2000
37
Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus. (9450886)
1998
38
A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus. (9088116)
1996
39
Bilateral enophthalmos associated with hydrocephalus and ventriculoperitoneal shunting. (8859079)
1996
40
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. (1518026)
1992
41
Lead encephalopathy: symptoms of a cerebellar mass lesion and obstructive hydrocephalus. (3750198)
1986
42
Subarachnoid haemorrhage and communicating hydrocephalus scanning electron microscopic observations. (517195)
1979
43
Nursing care study: a child who developed hydrocephalus due to listeria meningitis. (934926)
1976
44
Use of silastic to produce communicating hydrocephalus. (4690951)
1973
45
Continuous pressure monitoring in experimental obstructive hydrocephalus. II. The origin of undulating ventricular waves and periodic respirations. (4200634)
1973
46
Communicating hydrocephalus resembling cortical atrophy. An analysis of cases with application to the syndrome of "normal pressure hydrocephalus". (5302520)
1968
47
Normal-pressure, communicating hydrocephalus. (20329149)
1968
48
STUDIES ON THE RATE OF DISAPPEARANCE OF NA-24 FROM THE VENTRICULAR CAVITIES IN OBSTRUCTIVE HYDROCEPHALUS. (14186112)
1964
49
Experimental obstructive hydrocephalus. Changes in the cerebrum. (13945313)
1963
50
Treatment of obstructive hydrocephalus by puncture of the lamina terminalis and floor of the third ventricle. (14824983)
1951

Genetic Variations for Hydrocephalus

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Expression for genes affiliated with Hydrocephalus

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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51QIAGEN
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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

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Sources:
44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Hydrocephalus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1paraffin4410.5TGFB1, TSC1, MAPT, NPY
2histamine44 28 2412.4TGFB1, AQP4, PTGDS, NPY
3kainate44 2811.2NPY, MAPT, TGFB1

GO Terms for genes affiliated with Hydrocephalus

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hydrocephalus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet