MCID: ENC008
MIFTS: 48

Encephalocele

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Encephalocele

MalaCards integrated aliases for Encephalocele:

Name: Encephalocele 49 28
Cranium Bifidum 49
Encephaloceles 50
Bifid Cranium 49
Cephalocele 49
Craniocele 49

Classifications:



External Ids:

ICD10 32 Q01 Q01.9

Summaries for Encephalocele

NINDS : 50 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 hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (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 based summary : Encephalocele, also known as cranium bifidum, is related to occipital encephalocele and basal encephalocele. An important gene associated with Encephalocele is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, bone and temporal lobe, and related phenotypes are craniofacial and cellular

NIH Rare Diseases : 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. 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

Related Diseases for Encephalocele

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 223)
# Related Disease Score Top Affiliating Genes
1 occipital encephalocele 33.5 COL18A1 CYP26B1 TCTN3
2 basal encephalocele 32.2 ALX3 ALX4 TGIF1
3 meckel syndrome, type 1 29.8 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
4 coloboma of macula 29.6 CEP290 TCTN3 TMEM67
5 congenital hepatic fibrosis 29.6 CC2D2A RPGRIP1L TMEM67
6 bardet-biedl syndrome 29.2 CEP290 MKS1 RPGRIP1L TMEM67
7 bardet-biedl syndrome 11 29.2 CC2D2A MKS1 NPHP3 TMEM67
8 joubert syndrome 1 27.0 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
9 frontal encephalocele 12.2
10 parietal encephalocele 12.1
11 nasal encephalocele 12.1
12 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.0
13 isolated encephalocele 12.0
14 laryngeal atresia, encephalocele, and limb deformities 12.0
15 encephalocele anencephaly 11.8
16 knobloch syndrome 1 11.8
17 knobloch syndrome 11.7
18 dk phocomelia syndrome 11.7
19 zechi-ceide syndrome 11.7
20 radiohumeral fusions with other skeletal and craniofacial anomalies 11.4
21 meningoencephalocele 11.4
22 brachial amelia, cleft lip, and holoprosencephaly 11.2
23 hydrocephalus 11.2
24 neural tube defects 11.1
25 frontonasal dysplasia 1 11.1
26 meckel syndrome, type 3 10.9
27 meckel syndrome, type 4 10.9
28 meckel syndrome, type 8 10.9
29 meckel syndrome, type 9 10.9
30 boomerang dysplasia 10.8
31 orofaciodigital syndrome iv 10.8
32 meckel syndrome, type 7 10.8
33 otopalatodigital syndrome, type ii 10.8
34 oculoauriculofrontonasal syndrome 10.8
35 meckel syndrome, type 2 10.8
36 meckel syndrome, type 5 10.8
37 meckel syndrome, type 6 10.8
38 meckel syndrome, type 10 10.8
39 craniofacial anomalies and anterior segment dysgenesis syndrome 10.8
40 meckel syndrome, type 11 10.8
41 meckel syndrome 12 10.8
42 meckel syndrome 13 10.8
43 acrofrontofacionasal dysostosis 10.8
44 amniotic band syndrome 10.8
45 schisis association 10.8
46 nasal glial heterotopia 10.8
47 cranial meningocele 10.4
48 orofaciodigital syndrome i 10.3 CEP290 TMEM107
49 senior-løken syndrome 10.2 CEP290 NPHP3
50 coach syndrome 10.2 CC2D2A RPGRIP1L TMEM67

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to Encephalocele

Symptoms & Phenotypes for Encephalocele

MGI Mouse Phenotypes related to Encephalocele:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.39 MKS1 COL18A1 CYP26B1 NPHP3 KIF14 CEP290
2 cellular MP:0005384 10.37 KIF14 MKS1 COL18A1 CYP26B1 NPHP3 CEP290
3 cardiovascular system MP:0005385 10.31 CEP290 MKS1 COL18A1 CYP26B1 NPHP3 B9D1
4 growth/size/body region MP:0005378 10.3 KIF14 CEP290 MKS1 NPHP3 B9D1 ALX3
5 embryo MP:0005380 10.29 MKS1 CYP26B1 NPHP3 B9D1 ALX3 ALX4
6 behavior/neurological MP:0005386 10.25 KIF14 CEP290 COL18A1 CC2D2A B9D1 ALX3
7 mortality/aging MP:0010768 10.24 KIF14 CEP290 MKS1 CYP26B1 NPHP3 B9D1
8 nervous system MP:0003631 10.22 MKS1 COL18A1 NPHP3 CEP290 KIF14 B9D1
9 limbs/digits/tail MP:0005371 10.21 MKS1 CYP26B1 ALX3 ALX4 CC2D2A B9D1
10 digestive/alimentary MP:0005381 10.19 MKS1 B9D1 ALX3 B9D2 ALX4 CC2D2A
11 liver/biliary system MP:0005370 9.95 CEP290 MKS1 B9D1 B9D2 RPGRIP1L TMEM107
12 renal/urinary system MP:0005367 9.91 CEP290 COL18A1 MKS1 B9D1 CC2D2A NPHP3
13 respiratory system MP:0005388 9.81 CEP290 MKS1 CYP26B1 ALX3 B9D2 ALX4
14 skeleton MP:0005390 9.7 CEP290 COL18A1 MKS1 CYP26B1 ALX3 ALX4
15 vision/eye MP:0005391 9.5 MKS1 COL18A1 CYP26B1 CEP290 KIF14 ALX3

Drugs & Therapeutics for Encephalocele

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Management Following Lumbar Puncture In Children Unknown status NCT02590718
2 Optimization Lumbar Puncture In Children Withdrawn NCT02454894 lidocaine

Search NIH Clinical Center for Encephalocele

Genetic Tests for Encephalocele

Genetic tests related to Encephalocele:

# Genetic test Affiliating Genes
1 Encephalocele 28

Anatomical Context for Encephalocele

MalaCards organs/tissues related to Encephalocele:

38
Brain, Bone, Temporal Lobe, Pituitary, Kidney, Cerebellum, Eye

Publications for Encephalocele

Articles related to Encephalocele:

(show top 50) (show all 698)
# Title Authors Year
1
Frontoethmoidal encephalocele: clinical presentation, diagnosis, treatment, and complications in 400 cases. ( 29305685 )
2018
2
Matriderm for Management of Scalp Necrosis Following Surgical Treatment of Giant Parietal Encephalocele. ( 29102755 )
2018
3
Frontoethmoidal encephalocele: a pediatric airway challenge. ( 29038955 )
2018
4
The usefulness of stereo-electroencephalography (SEEG) in the surgical management of focal epilepsy associated with "hidden" temporal pole encephalocele: a case report and literature review. ( 29039074 )
2018
5
Intradiploic encephalocele of the primary motor cortex in an adult patient: electrophysiological implications during surgery. ( 28452617 )
2017
6
Repair of Frontoethmoidal Encephalocele in the Philippines: An Account of 30 Cases Between 2008-2013. ( 28344182 )
2017
7
Growth Hormone Deficiency, Basal Encephalocele, and Morning Glory Anomaly. ( 28938928 )
2017
8
Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India. ( 28398708 )
2017
9
Nasoethmoid-nasoorbital encephalocele presenting with orbital pulsation. ( 28643036 )
2017
10
Anteroinferior Temporal Encephalocele: A Surgically Treatable Cause of Pharmacoresistant Epilepsy. ( 28823797 )
2017
11
Interdisciplinary Management of Minimally Displaced Orbital Roof Fractures: Delayed Pulsatile Exophthalmos and Orbital Encephalocele. ( 28210402 )
2017
12
Encephalocele development from a congenital meningocele: case report. ( 28885087 )
2017
13
Cognitive improvement following repair of a basal encephalocele. ( 29250724 )
2017
14
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. ( 27729302 )
2017
15
Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex. ( 29138704 )
2017
16
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish. ( 29285825 )
2017
17
Symptomatic Parietal Intradiploic Encephalocele-A Case Report and Literature Review. ( 28316901 )
2017
18
Secondary encephalocele in infant following subdural empyema repaired endoscopically-A case report. ( 28802374 )
2017
19
Treatment of a Large Traumatic Encephalocele with Titanium Mesh. ( 28523088 )
2017
20
A Giant Occipital Encephalocele in Neonate with Spontaneous Hemorrhage into the Encephalocele Sac: Surgical Management. ( 29204205 )
2017
21
Utility of CISS sequence in detecting anteroinferior temporal encephalocele. ( 28991716 )
2017
22
Response To Dr. Tang Letter to Editor: Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. ( 27218031 )
2016
23
Posttraumatic giant fronto-orbito encephalocele causing cosmetic disfiguring forehead swelling with proptosis: Management. ( 28217161 )
2016
24
Combined supra-transorbital keyhole approach for treatment of delayed intraorbital encephalocele: A minimally invasive approach for an unusual complication of decompressive craniectomy. ( 26862452 )
2016
25
Perioperative Management of Children With Giant Encephalocele: A Clinical Report of 29 Cases. ( 26841351 )
2016
26
Epilepsy with temporal encephalocele: Characteristics of electrocorticography and surgical outcome. ( 26682848 )
2016
27
Primary Occipital Encephalocele in an Elderly Patient. ( 26999692 )
2016
28
Nontraumatic orbital roof encephalocele. ( 27993731 )
2016
29
Giant Interfrontal Encephalocele in an Infant: A Rare Entity. ( 27513987 )
2016
30
Acquired Encephalocele With Hydrocephalus and Pineal Region Epidermoid Cyst. ( 27315314 )
2016
31
Surgical resection of large encephalocele: a report of two cases and consideration of resectability based on developmental morphology. ( 27822763 )
2016
32
Traumatic orbital encephalocele: Presentation and imaging. ( 26905453 )
2016
33
ALX4 related parietal foramina mimicking encephalocele in antenatal period. ( 27080046 )
2016
34
Prenatal detection of congenital high airway obstruction syndrome with encephalocele. ( 27081227 )
2016
35
Parietal intradiploic encephalocele in an adult: a delayed complication of pediatric head injury? ( 28005171 )
2016
36
Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. ( 27218030 )
2016
37
Serpentine-like syndrome associated with encephalocele. ( 26950236 )
2016
38
Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report. ( 26851742 )
2016
39
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. ( 26876766 )
2016
40
Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. ( 27057033 )
2016
41
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
42
Giant Parietal Encephalocele with Massive Brain Herniation and Suboccipital Encephalocele in a Neonate: An Unusual Form of Double Encephalocele. ( 27867118 )
2016
43
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
44
Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy. ( 27020612 )
2016
45
A Retrospective Analysis of Neonatal Encephalocele Predisposing Factors and Outcomes. ( 27931021 )
2016
46
Secondary adult encephalocele with abscess formation of calcified frontal sinus mucocele. ( 26753900 )
2016
47
Pilocytic astrocytoma presenting as an orbital encephalocele: a case report. ( 26034483 )
2015
48
Nasopharyngeal Mass Diagnosed as Transsphenoidal Encephalocele in an Adult Patient. ( 26595010 )
2015
49
Intraorbital Encephalocele Presenting with Exophthalmos and Orbital Dystopia : CT and MRI Findings. ( 25674346 )
2015
50
Endoscopic transnasal repair of cerebrospinal fluid leaks with and without an encephalocele in pediatric patients: from infants to children. ( 25976865 )
2015

Variations for Encephalocele

Expression for Encephalocele

Search GEO for disease gene expression data for Encephalocele.

Pathways for Encephalocele

GO Terms for Encephalocele

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

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.91 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
2 cilium GO:0005929 9.85 B9D2 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L
3 ciliary basal body GO:0036064 9.77 B9D1 B9D2 CEP290 MKS1 RPGRIP1L
4 ciliary membrane GO:0060170 9.71 TCTN2 TCTN3 TMEM231 TMEM67
5 ciliary transition zone GO:0035869 9.65 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
6 MKS complex GO:0036038 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN2
7 cell projection GO:0042995 10.03 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
8 cytoskeleton GO:0005856 10.02 B9D1 B9D2 CC2D2A CEP290 KIF14 MKS1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.97 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
2 smoothened signaling pathway GO:0007224 9.77 B9D1 CC2D2A TCTN2 TCTN3 TMEM231
3 determination of left/right symmetry GO:0007368 9.73 CC2D2A MKS1 NPHP3 RPGRIP1L
4 embryonic digit morphogenesis GO:0042733 9.72 ALX4 B9D1 MKS1 TMEM107 TMEM231
5 camera-type eye development GO:0043010 9.71 B9D1 CC2D2A RPGRIP1L TMEM231
6 cell projection organization GO:0030030 9.7 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN2
7 embryonic forelimb morphogenesis GO:0035115 9.65 ALX3 ALX4 RPGRIP1L
8 non-motile cilium assembly GO:1905515 9.65 CC2D2A MKS1 NPHP3 RPGRIP1L TMEM107
9 embryonic hindlimb morphogenesis GO:0035116 9.63 ALX3 ALX4 RPGRIP1L
10 establishment or maintenance of cell polarity GO:0007163 9.61 NPHP3 RPGRIP1L
11 vasculature development GO:0001944 9.6 B9D1 TMEM231
12 limb morphogenesis GO:0035108 9.59 ALX4 RPGRIP1L
13 motile cilium assembly GO:0044458 9.58 CC2D2A MKS1
14 regulation of smoothened signaling pathway GO:0008589 9.58 MKS1 RPGRIP1L
15 olfactory bulb development GO:0021772 9.57 KIF14 RPGRIP1L
16 head development GO:0060322 9.56 MKS1 RPGRIP1L
17 embryonic brain development GO:1990403 9.55 CC2D2A MKS1
18 neuroepithelial cell differentiation GO:0060563 9.54 B9D1 TMEM231
19 neural tube patterning GO:0021532 9.52 RPGRIP1L TMEM107
20 protein localization to ciliary transition zone GO:1904491 9.51 CC2D2A TMEM107
21 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.49 MKS1 NPHP3
22 ciliary basal body-plasma membrane docking GO:0097711 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L

Sources for Encephalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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