MCID: ENC008
MIFTS: 47

Encephalocele malady

Neuronal category

Summaries for Encephalocele

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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. encephaloceles are usually dramatic deformities diagnosed immediately after birth; but occasionally a small encephalocele in the nasal and forehead region can go undetected. there is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members. last updated: 10/21/2011

MalaCards: Encephalocele, also known as cranium bifidum, is related to occipital encephalocele and knobloch syndrome. An important gene associated with Encephalocele is COL18A1 (collagen, type XVIII, alpha 1). Affiliated tissues include skin, brain and kidney, and related mouse phenotypes are respiratory system and digestive/alimentary.

Wikipedia:64 Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized... more...

Aliases & Classifications for Encephalocele

Sources:
43NIH Rare Diseases, 25ICD10
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Classifications:

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


Aliases & Descriptions:

encephalocele 43
cranium bifidum 43
bifid cranium 43
cephalocele 43
craniocele 43


External Ids:

ICD1025 Q01, Q01.9

Related Diseases for Encephalocele

Sources:
17GeneCards, 18GeneDecks
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Diseases in the frontal encephalocele family:

encephalocele basal encephalocele

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

(show top 50)    (show all 158)
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
9encephaloceles10.9
10basal encephalocele10.6
11nasal encephalocele10.6
12frontal encephalocele10.5
13enlarged parietal foramina10.4
14spina bifida cystica10.4
15parietal encephalocele10.3
16cerebrospinal fluid leak10.3
17meningocele10.3
18meckel syndrome10.2
19spina bifida10.2
20parietal foramina 110.2
21encephalocele anencephaly10.2
22teratoma10.2
23dandy-walker syndrome10.2
24exophthalmos10.2
25microcephaly10.2
26n syndrome10.2
27neural tube defects10.2
28zechi ceide syndrome10.1
29temporal lobe epilepsy10.1
30anencephaly10.1
31corpus callosum agenesis10.1
32meningoencephalocele10.1
33frontonasal dysplasia10.1
34kid syndrome10.1
35myelomeningocele10.1
36thanatophoric dysplasia10.1
37cleft palate10.1
38holoprosencephaly10.1
39bacterial meningitis10.1
40thrombocytopenia10.1
41dk phocomelia syndrome10.1
42subependymal nodular heterotopia10.1
43knobloch syndrome type i10.1
44meckel syndrome 110.1
45usher syndrome10.0
46atelosteogenesis10.0
47blake pouch cyst10.0
48apraxia10.0TMEM216
49leber congenital amaurosis10.0CEP290
50neurofibromatosis10.0

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to encephalocele

Clinical Features for Encephalocele

Drugs & Therapeutics for Encephalocele

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

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Drug clinical trials:

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Genetic Tests for Encephalocele

Anatomical Context for Encephalocele

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

33
Skin, Brain, Kidney, Lung, Cortex, Cerebellum, Heart, Small intestine, Colon, Placenta, Fetal brain, Parietal lobe, Temporal lobe, Occipital lobe, Fetal lung, Pineal, Pituitary

Animal Models for Encephalocele or affiliated genes

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

Sources:
51PubMed
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Articles related to Encephalocele:

(show top 50)    (show all 600)
idTitleAuthorsYear
1
The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital--a three year experience. (23441515)
2013
2
Unusual cause of dizziness: occult temporal lobe encephalocele into transverse sinus. (23810237)
2013
3
Nasal encephaloceles: a review of etiology, pathophysiology, clinical presentations, diagnosis, treatment, and complications. (23247827)
2013
4
In response to the article: Giant occipital encephalocele: a new paradigm. (23216935)
2013
5
Frontonasal encephalocele. (22902842)
2012
6
Congenital orbital encephalocele, orbital dystopia, and exophthalmos. (22801176)
2012
7
Perioperative challenges in patients with giant occipital encephalocele with microcephaly and micrognathia. (22346198)
2012
8
The role of obesity in spontaneous temporal bone encephaloceles and CSF leak. (22918116)
2012
9
Cocaine-induced encephalocele: case report and literature review. (21150742)
2011
10
Giant encephalocele. (20121534)
2010
11
Neural tube defects in Australia: trends in encephaloceles and other neural tube defects before and after promotion of folic acid supplementation and voluntary food fortification. (19180646)
2009
12
Endoscopic management of congenital meningo-encephalocele with nasal flaps. (19054580)
2009
13
Endoscopic treatment of traumatic basal encephaloceles: a report of 8 cases. (18377252)
2008
14
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. (18327255)
2008
15
Idiopathic temporal bone encephalocele. (18330429)
2007
16
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation. (17385797)
2007
17
A report of two 'traumatic encephaloceles'; an unrecognized entity. (17852098)
2007
18
Basal encephalocele associated with hypoplasia of the internal carotid artery. (18159144)
2007
19
Expansile cranioplasty for massive occipital encephalocele. (16708252)
2006
20
Intrasphenoidal encephalocele associated with cerebrospinal fluid fistula and subdural hematomas: technical case report. (15088622)
2004
21
Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. (12541087)
2003
22
Intrasphenoidal transsellar encephalocele repaired by endoscopic approach. (14587981)
2003
23
Dermoid cysts, gliomas, and encephaloceles: evaluation and treatment. (12087868)
2002
24
Surgical treatment of frontoethmoidal encephalocele: a case report. (11314381)
2000
25
Clival encephalocele. (10969956)
2000
26
Neglected craniocerebral gunshot wound resulting in an encephalocele: case report. (11165623)
2000
27
Management of encephaloceles and craniofacial problems in the neonatal period. (9405770)
1998
28
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (8776601)
1996
29
Giant congenital nevocellular nevus overlying an encephalocele. (9133851)
1996
30
Optic nerve compression from a basal encephalocele. (8574361)
1995
31
Intrasphenoidal encephalocele: diagnosis and management. (7991268)
1994
32
Separation of neural and surface ectoderm in relation to the pathogenesis of encephaloceles. (2293540)
1990
33
Intractable complex partial seizures associated with occult temporal lobe encephalocele and meningoangiomatosis: a case report. (2218851)
1990
34
Spheno-maxillary meningo-encephalocele. A case report. (2687333)
1989
35
Magnetic resonance imaging in encephaloceles. (3740722)
1986
36
The induction of microphthalmia, encephalocele, and other head defects following hyperthermia during the gastrulation process in the rat. (3983861)
1985
37
Transsphenoidal encephalocele. (4051411)
1985
38
Frontonasal encephalocele--"long nose hypertelorism". (6666962)
1983
39
Prenatal diagnosis of occipital encephalocele by ultrasound scanning. (6877550)
1983
40
Basal encephalocele and morning glory syndrome. (6849854)
1983
41
Surgical treatment of encephalocele complicated by hydrocephalus. (1031848)
1976
42
Optic nerve anomalies in basal encephalocele. (1090290)
1975
43
Cryptophthalmos syndrome with basal encephaloceles. (168776)
1975
44
Occipital encephalocele: a morphological study. (5008718)
1972
45
Endaural brain hernia (encephalocele). Diagnosis and treatment. (5450301)
1970
46
Encephalocele. (5368388)
1969
47
NASOPHARYNGEAL TRANSSPHENOIDAL ENCEPHALOCELE, CRATERLIKE HOLE IN THE OPTIC DISC AND AGENESIS OF THE CORPUS CALLOSUM. PNEUMOENCEPHALOGRAPHIC VISUALISATION IN A CASE. (14168884)
1964
48
Intranasal encephalocele; a case report. (13180883)
1954
49
Large encephalocele following otogenous cerebellar abscess and its protection by an "armoured" graft. (14944773)
1952
50
Intranasal (sphenopharyngeal) encephalocele; a report of a case with intracranial repair and a review of the subject. (18896818)
1947

Genetic Variations for Encephalocele

Expression for genes affiliated with Encephalocele

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

Search GEO for disease gene expression data for Encephalocele.

Pathways for genes affiliated with Encephalocele

Compounds for genes affiliated with Encephalocele

GO Terms for genes affiliated with Encephalocele

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

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.5NPHP3, TMEM216, RPGRIP1L
2cilium axonemeGO:0350859.4RPGRIP1L, B9D2, B9D1
3ciliary transition zoneGO:0358699.4B9D1, CC2D2A
4centrosomeGO:0058138.5TMEM67, MKS1, B9D1, B9D2, RPGRIP1L, CEP290
5TCTN-B9D complexGO:0360387.9CC2D2A, CEP290, TMEM67, TMEM216, TCTN2, MKS1
6microtubule basal bodyGO:0059327.4B9D1, B9D2, CC2D2A, RPGRIP1L, MKS1, TCTN2

Biological processes related to Encephalocele according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of cAMP metabolic processGO:0308149.9NPHP3, CEP290
2embryonic hindlimb morphogenesisGO:0351169.6RPGRIP1L, ALX4, ALX3
3embryonic forelimb morphogenesisGO:0351159.5ALX4, RPGRIP1L, ALX3
4establishment or maintenance of cell polarityGO:0071639.5CEP290, NPHP3, RPGRIP1L
5determination of left/right symmetryGO:0073689.3RPGRIP1L, TGIF1, NPHP3
6smoothened signaling pathwayGO:0072249.2TCTN3, TCTN2, B9D1, CC2D2A
7cilium morphogenesisGO:0602717.8CC2D2A, CEP290, TMEM67, TMEM216, TCTN3, TCTN2
8cilium assemblyGO:0423847.5TMEM67, TMEM216, TCTN2, MKS1, B9D1, B9D2

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Sources for Encephalocele

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