MCID: HYD006
MIFTS: 68

Hydrocephalus malady

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

Summaries for Hydrocephalus

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44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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 mental retardation, 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 are Kit Receptor Signaling Pathway and PI3K / Akt 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.

NIH Rare Diseases:44 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:35 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:66 Hydrocephalus[a]/?ha?dr??s?f?l?s/, also known as \"water on the brain\", is a medical condition in which... more...

Description from OMIM:48 236600,615219

Aliases & Classifications for Hydrocephalus

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 23GTR, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 27ICD10 via Orphanet, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet, 26ICD10
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Classifications:

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


Aliases & Descriptions:

hydrocephalus 9 44 23 45 11 46 35 63
hydrocephalus, nonsyndromic, autosomal recessive 9 10 48
congenital hydrocephalus 50
ventriculomegaly 44
hydrocephaly 44


External Ids:

Disease Ontology9 DOID:10908
NCIt41 C3111
ICD10 via Orphanet27 Q03.0, Q03.1, Q03.8 Q03.9, more
UMLS via Orphanet64 C0020256
SNOMED-CT via Orphanet60 47032000
ICD1026 Q03

Related Diseases for Hydrocephalus

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Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Hydrocephalus family:

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

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

(show top 50)    (show all 786)
idRelated DiseaseScoreTop Affiliating Genes
1normal pressure hydrocephalus31.6MAPT, PTGDS
2mental retardation30.1MAPT, TSC1, L1CAM
3obstructive hydrocephalus11.0
4communicating hydrocephalus11.0
5cerebritis10.7
6meningitis10.7
7myelomeningocele10.5
8aneurysm10.5
9arachnoiditis10.5
10dementia10.5
11spina bifida10.5
12choroiditis10.5
13tuberculous meningitis10.5
14syringomyelia10.5
15hypertension10.5
16hydrocephalus due to aqueductal stenosis10.4
17cerebral atrophy10.4
18posterior fossa tumors10.4
19alzheimer's disease10.3
20arachnoid cysts10.3
21megalencephaly10.3
22choroid plexus papilloma10.3
23spina bifida cystica10.3
24neural tube defects10.3
25congenital communicating hydrocephalus10.3
26meningoencephalitis10.3
27polymicrogyria10.3
28chiari malformation10.3
29intracranial hypertension10.3
30encephalocele10.3
31encephaloceles10.3
32vacterl hydrocephaly10.3
33dandy-walker syndrome10.3
34polydactyly10.3
35papilloma10.3
36myelocystocele10.3
37spina bifida aperta10.3
38peritonitis10.2
39megalencephaly, polymicrogyria, and hydrocephalus syndrome10.2
40arteriovenous malformation10.2
41bacterial meningitis10.2
42porencephaly10.2
43neurosarcoidosis10.2
44hydranencephaly10.2
45achondroplasia10.2
46bor-duane hydrocephalus contiguous gene syndrome10.2
47ependymoma10.2
48spasticity10.2
49megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome10.2
50posterior meningocele10.2

Graphical network of the top 20 diseases related to Hydrocephalus:



Diseases related to hydrocephalus

Symptoms for Hydrocephalus

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

236600

Clinical features from OMIM:

236600,615219

Symptoms:

50
  • autosomal recessive inheritance
  • hydrocephaly

Drugs & Therapeutics for Hydrocephalus

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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:
23GTR
See all sources

Genetic tests related to Hydrocephalus:

id Genetic test Affiliating Genes
1 Hydrocephalus23

Anatomical Context for Hydrocephalus

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Sources:
32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Hydrocephalus:

34
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:
38MGI
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MGI Mouse Phenotypes related to Hydrocephalus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0PIK3R2, TGFB1, TSC1, MAPT, HYDIN
2MP:00020067.6MAPT, TSC1, TGFB1, PTGDS, PIK3R2
3MP:00107717.4L1CAM, 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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Sources:
53PubMed
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Articles related to Hydrocephalus:

(show top 50)    (show all 1875)
idTitleAuthorsYear
1
Hydrocephalus shunt technology: 20 years of experience from the Cambridge Shunt Evaluation Laboratory. (24405071)
2014
2
Evidence for spatial navigational impairments in hydrocephalus patients without spina bifida. (23959082)
2013
3
Harvey Cushing's early management of hydrocephalus: an historical picture of the conundrum of hydrocephalus until modern shunts after WWII. (22944467)
2013
4
Hydrocephalus after intraventricular hemorrhage: the role of thrombin. (24326390)
2013
5
VACTERL association with hydrocephalus in a fetus conceived by inA vitro fertilization and embryo transfer. (24411047)
2013
6
Communicating hydrocephalus and vestibular schwannomas: etiology, treatment, and long-term follow-up. (24436891)
2013
7
Thrombin-induced TGF-I^1 pathway: a cause of communicating hydrocephalus post subarachnoid hemorrhage. (23338707)
2013
8
Hydrocephalus in tuberculous meningitis: Incidence, its predictive factors and impact on the prognosis. (23291048)
2013
9
New and improved ways to treat hydrocephalus: Pursuit of a smart shunt. (23653889)
2013
10
Journal club: role of endoscopic third ventriculostomy and ventriculoperitoneal shunt in idiopathic normal pressure hydrocephalus: preliminary results of a randomized clinical trial. (24141398)
2013
11
Obstructive hydrocephalus caused by giant basilar artery aneurysm. (23545619)
2013
12
Normal pressure hydrocephalus in the spectrum of neurological complications of systemic lupus erythematosus. (22829132)
2013
13
Visual disturbance following shunt malfunction in a patient with congenital hydrocephalus. (23183081)
2012
14
Proptosis as the presenting sign of giant prolactinoma in a prepubertal boy: successful resolution of hydrocephalus by use of medical therapy. (23231524)
2012
15
Microscopic supraciliary approach for terminal laminotomy for treatment of hydrocephalus: a preliminary report of eight cases. (23015337)
2012
16
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
17
A pitfall of neuroendoscopic intraventricular hematoma removal - delayed obstructive hydrocephalus caused by a small remnant clot - case report - . (21515952)
2011
18
Spontaneous intracerebral hemorrhage with ventricular extension and the grading of obstructive hydrocephalus: the prediction of outcome of a special life-threatening entity. (20948399)
2010
19
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
20
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. (19763591)
2010
21
CSF neurotransmitter metabolites and neuropsychiatric symptomatology in patients with normal pressure hydrocephalus. (19046799)
2009
22
Shunting in hydrocephalus due to tuberculous meningitis. Cases presenting with high cerebrospinal fluid proteins in pediatric age. (19546843)
2009
23
Normal pressure hydrocephalus after radiosurgery for sphenoid ridge meningioma. (19013812)
2009
24
Morphologic features and flow void phenomenon in normal pressure hydrocephalus and other dementias: are they really significant? (19717316)
2009
25
Clinical improvement in two dogs with hydrocephalus and syringohydromyelia after ventriculoperitoneal shunting. (18271823)
2008
26
Endoscopic third ventriculostomy in prepontine-suprasellar tuberculoma with tuberculous meningitis hydrocephalus: a case report. (17190988)
2007
27
Gait disturbance in normal pressure hydrocephalus: a clinical study. (17052947)
2007
28
Cerebrospinal fluid tau, phospho-tau181 and beta-amyloid1-42 in idiopathic normal pressure hydrocephalus: a discrimination from Alzheimer's disease. (17250725)
2007
29
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation. (17551329)
2007
30
Baseline neuropsychological profile and cognitive response to cerebrospinal fluid shunting for idiopathic normal pressure hydrocephalus. (16020945)
2005
31
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
32
Pulse wave encephalopathy: a spectrum hypothesis incorporating Alzheimer's disease, vascular dementia and normal pressure hydrocephalus. (14962623)
2004
33
Giant fusiform basilar artery aneurysm causing obstructive hydrocephalus. (17167680)
2002
34
Clinical experiences with different valve systems in patients with normal-pressure hydrocephalus: evaluation of the Miethke dual-switch valve. (12172931)
2002
35
Effects of ventriculoperitoneal shunt removal on cerebral oxygenation and brain compliance in chronic obstructive hydrocephalus. (11302655)
2001
36
Acute obstructive hydrocephalus complicating bacterial meningitis. Use of dexamethasone remains contentious. (10068234)
1999
37
Progressive hydrocephalus in Noonan syndrome. (9354850)
1997
38
Neuropathology and immunohistochemistry of the brain-stem in neonates with congenital hydrocephalus: comparative studies between aqueductal stenosis and Arnold-Chiari malformation. (7529958)
1994
39
Hydrocephalus in pfeiffer syndrome. (18638762)
1994
40
Intermittent downbeat nystagmus secondary to vermian arachnoid cyst with associated obstructive hydrocephalus. (1838553)
1991
41
The value of CSF flow studies in infants with communicating hydrocephalus. (3779670)
1986
42
Bilateral internuclear ophthalmoplegia due to hydrocephalus: a case report. (4069338)
1985
43
Gait apraxia in communicating hydrocephalus. (7241157)
1981
44
Ultrastructure of the ependyma in the lateral ventricles of primates with experimental communicating hydrocephalus. (118517)
1979
45
Hydrocephalus associated with arterio-venous malformation - the vein of Galen aneurysm. (551620)
1979
46
Compartmental analysis of cerebrospinal fluid-blood albumin transfer: consideration of kinetics in normal animals and animals with chronic communicating hydrocephalus. (615711)
1977
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hydrocephalus:

1
id Gene Name Type Significance SNP ID Assembly Location
1CCDC88CNM_001080414.3(CCDC88C): c.5058+1G> Asingle nucleotide variantPathogenicrs387907320GRCh37Chr 14, 91744265: 91744265
2CCDC88CNM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter)single nucleotide variantPathogenicrs369384363GRCh37Chr 14, 91804465: 91804465
3CCDC88CNM_001080414.3(CCDC88C): c.5841_5842delAG (p.Glu1949Glyfs)deletionPathogenicrs387907321GRCh37Chr 14, 91739214: 91739215

Expression for genes affiliated with Hydrocephalus

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2BioGPS, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database, 5Cell Signaling Technology, 55R&D Systems, 31KEGG, 61Thomson Reuters, 56Reactome, 54QIAGEN
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Pathways related to Hydrocephalus according to GeneCards/GeneDecks:

(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)39
9.5MPDZ, PIK3R2
29.5TSC1, PIK3R2
39.5TSC1, PIK3R2
49.5PIK3R2, TSC1
59.3TGFB1, PIK3R2
69.3TGFB1, PIK3R2
79.3TGFB1, PIK3R2
8
Show member pathways
9.0TGFB1, L1CAM, PIK3R2
9
Show member pathways
8.9TGFB1, MPDZ, PIK3R2
10
Show member pathways
8.9PIK3R2, TGFB1, TSC1
11
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
8.9PIK3R2, TGFB1, TSC1
12
Show member pathways
8.4MAPT, TSC1, TGFB1, PIK3R2

Compounds for genes affiliated with Hydrocephalus

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46Novoseek, 25HMDB
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Compounds related to Hydrocephalus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1spec-t469.6MAPT, TSC1
24-hydroxynonenal46 2510.3MAPT, TGFB1
3paraffin468.9TGFB1, TSC1, MAPT
4silver468.8MAPT, PTGDS
5threonine468.5MAPT, TSC1, TGFB1, PIK3R2
6creatinine468.4MAPT, TGFB1, PTGDS

GO Terms for genes affiliated with Hydrocephalus

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Sources:
17Gene Ontology
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Biological processes related to Hydrocephalus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.0TGFB1, L1CAM, PIK3R2
2myelinationGO:0425528.7TSC1, TGFB1, MPDZ

Molecular functions related to Hydrocephalus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:0436219.6CCDC88C, L1CAM
2protein N-terminus bindingGO:0474859.4TSC1, TGFB1

Products for genes affiliated with Hydrocephalus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hydrocephalus

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet