MCID: ENC017
MIFTS: 36

Encephaloceles malady

Summaries for Encephaloceles

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44NINDS, 33MalaCards
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NINDS:44 Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms and associated abnormalities of encephaloceles may include (excessive accumulation of cerebrospinal fluid in the brain), (paralysis of the arms and legs), (abnormally small head), (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.

MalaCards: Encephaloceles is related to occipital encephalocele and knobloch syndrome. An important gene associated with Encephaloceles is COL18A1 (collagen, type XVIII, alpha 1). Affiliated tissues include brain, fetal brain and temporal lobe, and related mouse phenotypes are respiratory system and digestive/alimentary.

Aliases & Classifications for Encephaloceles

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44NINDS
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Aliases & Descriptions:

encephaloceles 44


Related Diseases for Encephaloceles

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Encephaloceles via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1occipital encephalocele31.1COL18A1
2knobloch syndrome30.2COL18A1
3polydactyly30.0CC2D2A, B9D2, B9D1, MKS1, TCTN3, TMEM216
4joubert syndrome29.9RPGRIP1L, CC2D2A, TMEM67, CEP290
5joubert syndrome 229.7TMEM216
6mental retardation29.7TGIF1, POMT1
7bardet-biedl syndrome29.7CEP290, MKS1
8coach syndrome29.7RPGRIP1L, CC2D2A, TMEM67
9encephalocele11.2
10basal encephalocele10.6
11nasal encephalocele10.6
12frontal encephalocele10.5
13parietal encephalocele10.3
14cerebrospinal fluid leak10.3
15meningocele10.3
16meckel syndrome10.2
17spina bifida10.2
18encephalocele anencephaly10.2
19teratoma10.2
20dandy-walker syndrome10.2
21exophthalmos10.2
22microcephaly10.2
23n syndrome10.2
24neural tube defects10.2
25temporal lobe epilepsy10.1
26anencephaly10.1
27corpus callosum agenesis10.1
28meningoencephalocele10.1
29frontonasal dysplasia10.1
30kid syndrome10.1
31myelomeningocele10.1
32thanatophoric dysplasia10.1
33cleft palate10.1
34holoprosencephaly10.1
35bacterial meningitis10.1
36thrombocytopenia10.1
37dk phocomelia syndrome10.1
38subependymal nodular heterotopia10.1
39knobloch syndrome type i10.1
40meckel syndrome 110.1
41apraxia10.0TMEM216
42leber congenital amaurosis10.0CEP290
43neurofibromatosis10.0
44goldenhar syndrome10.0
45orbital cyst10.0
46achondrogenesis10.0
47septo-optic dysplasia10.0
48iniencephaly10.0
49murcs association10.0
50cervicofacial lymphatic malformation10.0

Graphical network of the top 20 diseases related to Encephaloceles:



Diseases related to encephaloceles

Clinical Features for Encephaloceles

Drugs & Therapeutics for Encephaloceles

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Encephaloceles

Drug clinical trials:

Search ClinicalTrials for Encephaloceles

Search NIH Clinical Center for Encephaloceles

Search CenterWatch for Encephaloceles

Genetic Tests for Encephaloceles

Anatomical Context for Encephaloceles

Sources:
33MalaCards
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MalaCards organs/tissues related to Encephaloceles:

33
Brain, Fetal brain, Temporal lobe, Occipital lobe

Animal Models for Encephaloceles or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Encephaloceles

Sources:
51PubMed
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Articles related to Encephaloceles:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
Combined approach for the treatment of spontaneous temporal encephaloceles: Transmastoid plus temporal minicraniotomy. (23953829)
2014
2
Nasal encephaloceles: a review of etiology, pathophysiology, clinical presentations, diagnosis, treatment, and complications. (23247827)
2013
3
Surgical treatment of transsphenoidal encephaloceles: transpalatal versus combined transpalatal and transcranial approach. (23495807)
2013
4
Multiple acquired encephaloceles: dramatic end point of chronic untreated intracranial hypertension in multi-suture craniosynostosis. (23920352)
2012
5
The role of obesity in spontaneous temporal bone encephaloceles and CSF leak. (22918116)
2012
6
Middle fossa extradural repair of sphenoidal encephaloceles. (20874451)
2011
7
Endoscopic Coblatora8c-assisted management of encephaloceles. (21072754)
2010
8
Successful staged correction of transsphenoidal encephaloceles. (20220554)
2010
9
Endoscopic endonasal repair of anterior skull base non-traumatic cerebrospinal fluid leaks, meningoceles, and encephaloceles. (19929192)
2010
10
Small temporal pole encephaloceles: a treatable cause of "lesion negative" temporal lobe epilepsy. (20384762)
2010
11
Anesthesia in neonates with large encephaloceles. (19645984)
2009
12
Surgical management of congenital median perisellar transsphenoidal encephaloceles with an extracranial approach: a series of 6 cases. (19934973)
2009
13
Spontaneous encephaloceles of the temporal lobe. (19035698)
2008
14
A report of two 'traumatic encephaloceles'; an unrecognized entity. (17852098)
2007
15
Anterior encephaloceles: a series of 103 cases over 32 years. (16679016)
2006
16
Transnasal endoscopic repair of cerebrospinal fluid fistulas and encephaloceles: surgical indications and complications. (16015496)
2005
17
Endoscopic treatment of encephaloceles of the lateral wall of the sphenoid sinus. (15346316)
2004
18
Anterior encephaloceles: a study of 92 cases. (11919444)
2002
19
Dermoid cysts, gliomas, and encephaloceles: evaluation and treatment. (12087868)
2002
20
Trans-sellar trans-sphenoidal encephaloceles: report of two cases. (11749029)
2002
21
Spontaneous temporal encephaloceles masked by dual pathology: report of two cases. (11410138)
2001
22
Endoscopic management of basal encephaloceles. (11485584)
2001
23
Nasal encephaloceles. (11151720)
2000
24
A clinicopathological study of 15 patients with neuroglial heterotopias and encephaloceles of the middle ear and mastoid region. (11037835)
2000
25
Management of encephaloceles and craniofacial problems in the neonatal period. (9405770)
1998
26
Anterior encephaloceles. (10771905)
1997
27
Congenital midline nasal masses: dermoids, gliomas, and encephaloceles. (8984139)
1996
28
Endoscopic repair of cerebrospinal fluid fistulae and encephaloceles. (8822717)
1996
29
The repair of frontal encephaloceles in Papua New Guinea. (7980262)
1994
30
Anterior encephaloceles: a report of 30 cases. (7882371)
1994
31
Bilateral temporal bone encephaloceles after cranial irradiation. Case report. (8410231)
1993
32
Nasal midline masses in infants and children. Dermoids, encephaloceles, and gliomas. (1998367)
1991
33
Separation of neural and surface ectoderm in relation to the pathogenesis of encephaloceles. (2293540)
1990
34
Contributory aspects of MRI in the evaluation of basal encephaloceles. (2635216)
1989
35
Intrasphenoidal encephaloceles--a clinical entity. (3324649)
1987
36
In encephaloceles, autopsy holds key to genetic counseling: case reports. (3660927)
1987
37
Magnetic resonance imaging in encephaloceles. (3740722)
1986
38
Skeletal morphology of anterior encephaloceles defined through the use of three-dimensional reconstruction of computed tomography. (4080655)
1985-1986
39
Temporal lobe encephaloceles: etiology of partial complex seizures? (3969228)
1985
40
Surgical treatment of anterior nasoethmoid encephaloceles. (6524084)
1984
41
Occult encephaloceles and temporal lobe epilepsy: developmental and acquired lesions in the middle fossa. (6538277)
1984
42
Autosomal recessive vitreoretinopathy and encephaloceles. (7180923)
1982
43
Cryptophthalmos syndrome with basal encephaloceles. (168776)
1975
44
Occipital encephaloceles with and without visual evoked potentials. (4816837)
1974
45
The prognosis of encephaloceles. (5411997)
1970
46
Intranasal encephaloceles (8 operated cases). (5515296)
1970
47
Transsphenoidal and transethmoidal encephaloceles. A review of clinical and roentgen features in 8 cases. (4966739)
1968
48
Long-term results of early operation of open myelomeningoceles and encephaloceles. (5335566)
1967
49
Intranasal encephaloceles. (5891761)
1965
50
Intranasal encephaloceles; survey of problem, with recommendations for reducing mortality. (14894031)
1952

Genetic Variations for Encephaloceles

Expression for genes affiliated with Encephaloceles

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Encephaloceles

Search GEO for disease gene expression data for Encephaloceles.

Pathways for genes affiliated with Encephaloceles

Compounds for genes affiliated with Encephaloceles

GO Terms for genes affiliated with Encephaloceles

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16Gene Ontology
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Cellular components related to Encephaloceles according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.5TMEM216, NPHP3, RPGRIP1L
2cilium axonemeGO:0350859.4RPGRIP1L, B9D2, B9D1
3ciliary transition zoneGO:0358699.4B9D1, CC2D2A
4centrosomeGO:0058138.5RPGRIP1L, B9D2, B9D1, MKS1, TMEM67, CEP290
5TCTN-B9D complexGO:0360387.9CC2D2A, B9D2, B9D1, MKS1, TCTN2, TMEM216
6microtubule basal bodyGO:0059327.5CEP290, RPGRIP1L, TMEM67, TMEM216, TCTN2, MKS1

Biological processes related to Encephaloceles according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of cAMP metabolic processGO:0308149.9CEP290, NPHP3
2embryonic hindlimb morphogenesisGO:0351169.6ALX3, ALX4, RPGRIP1L
3embryonic forelimb morphogenesisGO:0351159.5RPGRIP1L, ALX4, ALX3
4establishment or maintenance of cell polarityGO:0071639.5CEP290, NPHP3, RPGRIP1L
5determination of left/right symmetryGO:0073689.3TGIF1, NPHP3, RPGRIP1L
6smoothened signaling pathwayGO:0072249.2CC2D2A, B9D1, TCTN2, TCTN3
7cilium morphogenesisGO:0602717.8CC2D2A, B9D1, NPHP3, MKS1, TCTN2, TCTN3
8cilium assemblyGO:0423847.5CEP290, RPGRIP1L, TMEM67, TMEM216, TCTN2, MKS1

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Sources for Encephaloceles

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