MCID: ENC008
MIFTS: 47

Encephalocele malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Encephalocele

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Aliases & Descriptions for Encephalocele:

Name: Encephalocele 48
Encephaloceles 49 27
Cranium Bifidum 48
 
Bifid Cranium 48
Cephalocele 48
Craniocele 48

Classifications:



External Ids:

ICD1030 Q01, Q01.9

Summaries for Encephalocele

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NIH Rare Diseases:48 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 based summary: Encephalocele, also known as encephaloceles, is related to chiari malformation and occipital encephalocele. An important gene associated with Encephalocele is MKS1 (Meckel Syndrome, Type 1), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, bone and temporal lobe, and related mouse phenotypes are liver/biliary system and renal/urinary system.

NINDS:49 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

Wikipedia:71 Encephalocele, sometimes known as cranium bifidum, is a neural tube defect characterized by sac-like... more...

Related Diseases for Encephalocele

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Diseases in the Encephalocele family:

Frontal Encephalocele Basal Encephalocele

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

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1chiari malformation29.3CC2D2A, CEP290, TMEM216, TMEM231
2occipital encephalocele12.1
3frontal encephalocele12.1
4basal encephalocele12.0
5parietal encephalocele12.0
6nasal encephalocele12.0
7isolated encephalocele11.9
8encephalocele anencephaly11.7
9parietal foramina 111.6
10dk phocomelia syndrome11.6
11knobloch syndrome, type 111.5
12meningoencephalocele11.4
13craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies11.3
14knobloch syndrome11.2
15meckel syndrome 111.1
16neural tube defects11.0
17zechi-ceide syndrome11.0
18meckel syndrome 310.8
19meckel syndrome 410.8
20meckel syndrome 810.8
21meckel syndrome 910.8
22brachial amelia, forebrain defects and facial clefts10.7
23frontonasal dysplasia 110.7
24meckel syndrome 1210.7
25meckel syndrome 710.7
26meckel syndrome 610.7
27orofaciodigital syndrome iv10.7
28meckel syndrome 210.7
29meckel syndrome 510.7
30meckel syndrome 1110.7
31meckel syndrome 1010.7
32craniofacial anomalies and anterior segment dysgenesis syndrome10.7
33oculoauriculofrontonasal syndrome10.7
34nasal glial heterotopia10.7
35cranial meningocele10.3
36corneal dystrophy, congenital stromal10.3CEP290, TMEM67
37isobutyryl-coa dehydrogenase deficiency10.2MKS1, TMEM216, TMEM67
38huntington disease-like 310.1CC2D2A, RPGRIP1L, TMEM67
39hydrocephalus10.1
40phakomatosis pigmentokeratotica10.1COL18A1, CYP26B1, TCTN3
41epilepsy10.0
42meningitis10.0
43auditory agnosia10.0CC2D2A, TMEM216, TMEM231
44acrofacial dysostosis10.0RPGRIP1L, TCTN3, TMEM216, TMEM231
45glioma10.0
46creatine deficiency syndromes9.9B9D2, CC2D2A, RPGRIP1L, TMEM67
47meningocele9.9
48exophthalmos9.9
49cerebrospinal fluid leak9.9
50temporal lobe epilepsy9.9

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to encephalocele

Symptoms & Phenotypes for Encephalocele

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MGI Mouse Phenotypes related to Encephalocele according to GeneCards Suite gene sharing:

41 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.6B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:00053679.2B9D1, CC2D2A, CEP290, COL18A1, MKS1, NPHP3
3MP:00053818.1ALX3, ALX4, B9D1, B9D2, CC2D2A, MKS1
4MP:00053888.1ALX3, ALX4, B9D2, CC2D2A, CEP290, CYP26B1
5MP:00053857.8B9D1, CC2D2A, CEP290, COL18A1, CYP26B1, MKS1
6MP:00053867.3ALX3, ALX4, B9D1, CC2D2A, CEP290, KIF14
7MP:00053907.1ALX3, ALX4, CEP290, COL18A1, CYP26B1, KIF14
8MP:00053717.0ALX3, ALX4, B9D1, CC2D2A, CYP26B1, MKS1
9MP:00053846.7ALX3, B9D1, B9D2, CC2D2A, CEP290, COL18A1
10MP:00053806.7ALX3, ALX4, B9D1, CC2D2A, CYP26B1, MKS1
11MP:00053786.5ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
12MP:00053826.2ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1
13MP:00107686.0ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
14MP:00036315.8ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1
15MP:00053915.6ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1

Drugs & Therapeutics for Encephalocele

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Management Following Lumbar Puncture In ChildrenNot yet recruitingNCT02590718
2Optimization Lumbar Puncture In ChildrenWithdrawnNCT02454894

Search NIH Clinical Center for Encephalocele

Genetic Tests for Encephalocele

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Genetic tests related to Encephalocele:

id Genetic test Affiliating Genes
1 Encephalocele27

Anatomical Context for Encephalocele

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MalaCards organs/tissues related to Encephalocele:

36
Brain, Bone, Temporal lobe, Pituitary, Kidney, Cerebellum, Eye

Publications for Encephalocele

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Articles related to Encephalocele:

(show top 50)    (show all 677)
idTitleAuthorsYear
1
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. (27729302)
2017
2
Serpentine-like syndrome associated with encephalocele. (26950236)
2016
3
Perioperative Management of Children With Giant Encephalocele: A Clinical Report of 29 Cases. (26841351)
2016
4
Parietal intradiploic encephalocele in an adult: a delayed complication of pediatric head injury? (28005171)
2016
5
Secondary adult encephalocele with abscess formation of calcified frontal sinus mucocele. (26753900)
2016
6
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. (26876766)
2016
7
Response To Dr. Tang Letter to Editor: Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. (27218031)
2016
8
Giant Parietal Encephalocele with Massive Brain Herniation and Suboccipital Encephalocele in a Neonate: An Unusual Form of Double Encephalocele. (27867118)
2016
9
Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report. (26851742)
2016
10
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. (27200165)
2016
11
Nontraumatic orbital roof encephalocele. (27993731)
2016
12
Acquired Encephalocele With Hydrocephalus and Pineal Region Epidermoid Cyst. (27315314)
2016
13
A Retrospective Analysis of Neonatal Encephalocele Predisposing Factors and Outcomes. (27931021)
2016
14
Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy. (27020612)
2016
15
ALX4 related parietal foramina mimicking encephalocele in antenatal period. (27080046)
2016
16
Giant Interfrontal Encephalocele in an Infant: A Rare Entity. (27513987)
2016
17
Combined supra-transorbital keyhole approach for treatment of delayed intraorbital encephalocele: A minimally invasive approach for an unusual complication of decompressive craniectomy. (26862452)
2016
18
Prenatal detection of congenital high airway obstruction syndrome with encephalocele. (27081227)
2016
19
Long-Term Results of Orbital Roof Repair with Titanium Mesh in a Case of Traumatic Intraorbital Encephalocele: A Case Report and Review of Literature. (27516843)
2016
20
Traumatic orbital encephalocele: Presentation and imaging. (26905453)
2016
21
Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. (27218030)
2016
22
Surgical resection of large encephalocele: a report of two cases and consideration of resectability based on developmental morphology. (27822763)
2016
23
Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. (27057033)
2016
24
Primary Occipital Encephalocele in an Elderly Patient. (26999692)
2016
25
Epilepsy with temporal encephalocele: Characteristics of electrocorticography and surgical outcome. (26682848)
2016
26
Combined transnasal and transoral endoscopic approach to a transsphenoidal encephalocele in an infant. (25712744)
2015
27
Basal transethmoidal encephalocele and malignant hypertension in a parturient with a seizure disorder. A case report. (25745752)
2015
28
Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele. (25658248)
2015
29
Cerebrospinal fluid rhinorrhea and seizure caused by temporo-sphenoidal encephalocele. (25932300)
2015
30
Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele. (26294989)
2015
31
Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. (26267579)
2015
32
Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele. (26816952)
2015
33
Prenatal Diagnosis of A Case with Frontoethmoidal Encephalocele and the Neonatal Outcome. (26393172)
2015
34
Nasopharyngeal Mass Diagnosed as Transsphenoidal Encephalocele in an Adult Patient. (26595010)
2015
35
Conjunctival Mass as an Initial Presentation of Iatrogenic Orbital Encephalocele. (26366625)
2015
36
Temporal anteroinferior encephalocele: An underrecognized etiology of temporal lobe epilepsy? (26408489)
2015
37
Occult Encephalocele Causing Recurrent Meningitis. (26088840)
2015
38
Parietal intradiploic encephalocele: Report of a case and review of the literature. (26246093)
2015
39
Intraorbital Encephalocele Presenting with Exophthalmos and Orbital Dystopia : CT and MRI Findings. (25674346)
2015
40
Idiopathic Intracranial Hypertension: The "Moth-eaten" Skull Base and Encephaloceles. (26328792)
2015
41
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. (26852507)
2015
42
Traumatic fronto-ethmoidal encephalocele: a rare case. (25745349)
2015
43
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. (25848158)
2015
44
Spontaneous Temporal Pole Encephalocele Presenting with Epilepsy: Report of Two Cases. (25913431)
2015
45
Subtle presentation of sincipital encephalocele in a child: Operative approach augmented by plastic surgery. (26409953)
2015
46
Congenital interparietal encephalocele: a case report. (26023594)
2015
47
Mechanism and surgical management of transsellar transsphenoidal encephalocele. (26256066)
2015
48
Pilocytic astrocytoma presenting as an orbital encephalocele: a case report. (26034483)
2015
49
Partial thickness autologus calvarial bone orbitocranioplasty for a sphenorbital encephalocele presenting as pulsatile exophthalmos. (25972944)
2015
50
Encephalocele presenting as an oropharyngeal mass. (25540148)
2015

Variations for Encephalocele

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Expression for genes affiliated with Encephalocele

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Search GEO for disease gene expression data for Encephalocele.

Pathways for genes affiliated with Encephalocele

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GO Terms for genes affiliated with Encephalocele

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Cellular components related to Encephalocele according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary membraneGO:006017010.0TCTN2, TCTN3, TMEM231, TMEM67
2ciliumGO:000592910.0NPHP3, RPGRIP1L, TMEM216
3ciliary basal bodyGO:00360649.6B9D1, B9D2, CEP290, MKS1, RPGRIP1L
4centrosomeGO:00058139.4B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
5ciliary transition zoneGO:00358698.9B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216
6MKS complexGO:00360387.9B9D1, B9D2, CC2D2A, CEP290, MKS1, TCTN2

Biological processes related to Encephalocele according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1head developmentGO:006032210.6MKS1, RPGRIP1L
2embryonic brain developmentGO:199040310.6CC2D2A, MKS1
3regulation of smoothened signaling pathwayGO:000858910.5MKS1, RPGRIP1L
4establishment or maintenance of cell polarityGO:000716310.5NPHP3, RPGRIP1L
5regulation of Wnt signaling pathway, planar cell polarity pathwayGO:200009510.5MKS1, NPHP3
6olfactory bulb developmentGO:002177210.4KIF14, RPGRIP1L
7limb morphogenesisGO:003510810.2ALX4, RPGRIP1L
8camera-type eye developmentGO:004301010.1B9D1, CC2D2A, RPGRIP1L
9determination of left/right symmetryGO:000736810.1CC2D2A, MKS1, NPHP3, RPGRIP1L
10embryonic digit morphogenesisGO:00427339.8ALX4, B9D1, MKS1
11embryonic forelimb morphogenesisGO:00351159.4ALX3, ALX4, RPGRIP1L
12embryonic hindlimb morphogenesisGO:00351169.4ALX3, ALX4, RPGRIP1L
13smoothened signaling pathwayGO:00072248.9B9D1, CC2D2A, TCTN2, TCTN3, TMEM231
14cilium assemblyGO:00602718.3B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L

Sources for Encephalocele

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet