MCID: ENC008
MIFTS: 48

Encephalocele

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Encephalocele

MalaCards integrated aliases for Encephalocele:

Name: Encephalocele 50 29
Cranium Bifidum 50
Encephaloceles 51
Bifid Cranium 50
Cephalocele 50
Craniocele 50

Classifications:



External Ids:

ICD10 33 Q01 Q01.9

Summaries for Encephalocele

NINDS : 51 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 frontal encephalocele. An important gene associated with Encephalocele is MKS1 (Meckel Syndrome, Type 1), 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 : 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. 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

Wikipedia : 72 Encephalocele, sometimes known as cranium bifidum, is a neural tube defect characterized by sac-like... more...

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 176)
id Related Disease Score Top Affiliating Genes
1 occipital encephalocele 12.1
2 frontal encephalocele 12.1
3 basal encephalocele 12.0
4 nasal encephalocele 12.0
5 parietal encephalocele 12.0
6 isolated encephalocele 11.9
7 encephalocele anencephaly 11.7
8 knobloch syndrome 11.6
9 dk phocomelia syndrome 11.6
10 knobloch syndrome, type 1 11.5
11 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 11.3
12 meckel syndrome 1 11.1
13 hydrocephalus 11.0
14 neural tube defects 11.0
15 zechi-ceide syndrome 11.0
16 meningoencephalocele 10.9
17 meckel syndrome 3 10.8
18 meckel syndrome 4 10.8
19 meckel syndrome 8 10.8
20 meckel syndrome 9 10.8
21 brachial amelia, forebrain defects and facial clefts 10.7
22 frontonasal dysplasia 1 10.6
23 meckel syndrome 12 10.6
24 boomerang dysplasia 10.6
25 meckel syndrome 7 10.6
26 meckel syndrome 6 10.6
27 orofaciodigital syndrome iv 10.6
28 meckel syndrome 2 10.6
29 meckel syndrome 5 10.6
30 meckel syndrome 11 10.6
31 meckel syndrome 10 10.6
32 craniofacial anomalies and anterior segment dysgenesis syndrome 10.6
33 otopalatodigital syndrome, type ii 10.6
34 oculoauriculofrontonasal syndrome 10.6
35 acrofrontofacionasal dysostosis 10.6
36 amniotic band syndrome 10.6
37 schisis association 10.6
38 nasal glial heterotopia 10.6
39 abdominal wall defect 10.5 CEP290 NPHP3
40 lymphedema, hereditary, id 10.3 TCTN2 TCTN3
41 cystic fibrosis and congenital absence of the vas deferens 10.3 CC2D2A RPGRIP1L TMEM67
42 cranial meningocele 10.3
43 huntington disease-like 3 10.3 CC2D2A RPGRIP1L TMEM67
44 bone marrow failure syndrome 3 10.2 TCTN3 TMEM216 TMEM231
45 pericardial and diaphragmatic defect 10.2 COL18A1 CYP26B1 TCTN3
46 glycogen storage disease ix 10.2 RPGRIP1L TCTN2 TCTN3
47 corneal dystrophy, congenital stromal 10.1 CEP290 TMEM67
48 junctional epidermolysis bullosa inversa 10.1 CC2D2A CEP290 TMEM216 TMEM231
49 congenital heart defects, multiple types, 3 10.1 CC2D2A MKS1 NPHP3 TMEM67
50 impetigo 10.1 CC2D2A CEP290 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:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.36 MKS1 NPHP3 RPGRIP1L TCTN2 TGIF1 TMEM67
2 cellular MP:0005384 10.34 CEP290 COL18A1 CYP26B1 KIF14 MKS1 NPHP3
3 cardiovascular system MP:0005385 10.31 B9D1 CC2D2A CEP290 COL18A1 CYP26B1 MKS1
4 growth/size/body region MP:0005378 10.27 ALX3 ALX4 B9D1 B9D2 CC2D2A CEP290
5 embryo MP:0005380 10.26 ALX3 ALX4 TMEM67 B9D1 CC2D2A CYP26B1
6 mortality/aging MP:0010768 10.21 B9D1 B9D2 CC2D2A CEP290 CYP26B1 KIF14
7 behavior/neurological MP:0005386 10.2 ALX3 ALX4 B9D1 CC2D2A CEP290 KIF14
8 nervous system MP:0003631 10.2 ALX3 ALX4 B9D1 CC2D2A CEP290 COL18A1
9 limbs/digits/tail MP:0005371 10.17 TMEM231 TMEM67 ALX3 ALX4 B9D1 CC2D2A
10 digestive/alimentary MP:0005381 10.1 ALX3 ALX4 B9D1 B9D2 CC2D2A MKS1
11 liver/biliary system MP:0005370 9.88 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
12 renal/urinary system MP:0005367 9.86 MKS1 NPHP3 RPGRIP1L TMEM67 B9D1 CC2D2A
13 respiratory system MP:0005388 9.81 ALX3 ALX4 B9D2 CC2D2A CEP290 CYP26B1
14 skeleton MP:0005390 9.7 ALX3 ALX4 CEP290 COL18A1 CYP26B1 KIF14
15 vision/eye MP:0005391 9.47 ALX3 ALX4 B9D1 CC2D2A CEP290 COL18A1

Drugs & Therapeutics for Encephalocele

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Encephalocele 29

Anatomical Context for Encephalocele

MalaCards organs/tissues related to Encephalocele:

39
Brain, Bone, Temporal Lobe, Pituitary, Kidney, Cerebellum, Eye

Publications for Encephalocele

Articles related to Encephalocele:

(show top 50) (show all 689)
id Title Authors Year
1
Secondary encephalocele in infant following subdural empyema repaired endoscopically-A case report. ( 28802374 )
2017
2
Nasoethmoid-nasoorbital encephalocele presenting with orbital pulsation. ( 28643036 )
2017
3
Growth Hormone Deficiency, Basal Encephalocele, and Morning Glory Anomaly. ( 28938928 )
2017
4
Interdisciplinary Management of Minimally Displaced Orbital Roof Fractures: Delayed Pulsatile Exophthalmos and Orbital Encephalocele. ( 28210402 )
2017
5
Encephalocele development from a congenital meningocele: case report. ( 28885087 )
2017
6
Repair of Frontoethmoidal Encephalocele in the Philippines: An Account of 30 Cases Between 2008-2013. ( 28344182 )
2017
7
Intradiploic encephalocele of the primary motor cortex in an adult patient: electrophysiological implications during surgery. ( 28452617 )
2017
8
Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India. ( 28398708 )
2017
9
Symptomatic Parietal Intradiploic Encephalocele-A Case Report and Literature Review. ( 28316901 )
2017
10
Treatment of a Large Traumatic Encephalocele with Titanium Mesh. ( 28523088 )
2017
11
Anteroinferior Temporal Encephalocele: A Surgically Treatable Cause of Pharmacoresistant Epilepsy. ( 28823797 )
2017
12
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. ( 27729302 )
2017
13
Nontraumatic orbital roof encephalocele. ( 27993731 )
2016
14
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. ( 26876766 )
2016
15
Primary Occipital Encephalocele in an Elderly Patient. ( 26999692 )
2016
16
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
17
A Retrospective Analysis of Neonatal Encephalocele Predisposing Factors and Outcomes. ( 27931021 )
2016
18
Parietal intradiploic encephalocele in an adult: a delayed complication of pediatric head injury? ( 28005171 )
2016
19
Prenatal detection of congenital high airway obstruction syndrome with encephalocele. ( 27081227 )
2016
20
Response To Dr. Tang Letter to Editor: Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. ( 27218031 )
2016
21
Traumatic orbital encephalocele: Presentation and imaging. ( 26905453 )
2016
22
Perioperative Management of Children With Giant Encephalocele: A Clinical Report of 29 Cases. ( 26841351 )
2016
23
Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. ( 27057033 )
2016
24
Posttraumatic giant fronto-orbito encephalocele causing cosmetic disfiguring forehead swelling with proptosis: Management. ( 28217161 )
2016
25
Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. ( 27218030 )
2016
26
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
27
Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy. ( 27020612 )
2016
28
Secondary adult encephalocele with abscess formation of calcified frontal sinus mucocele. ( 26753900 )
2016
29
Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report. ( 26851742 )
2016
30
Acquired Encephalocele With Hydrocephalus and Pineal Region Epidermoid Cyst. ( 27315314 )
2016
31
Combined supra-transorbital keyhole approach for treatment of delayed intraorbital encephalocele: A minimally invasive approach for an unusual complication of decompressive craniectomy. ( 26862452 )
2016
32
Epilepsy with temporal encephalocele: Characteristics of electrocorticography and surgical outcome. ( 26682848 )
2016
33
ALX4 related parietal foramina mimicking encephalocele in antenatal period. ( 27080046 )
2016
34
Surgical resection of large encephalocele: a report of two cases and consideration of resectability based on developmental morphology. ( 27822763 )
2016
35
Serpentine-like syndrome associated with encephalocele. ( 26950236 )
2016
36
Giant Interfrontal Encephalocele in an Infant: A Rare Entity. ( 27513987 )
2016
37
Giant Parietal Encephalocele with Massive Brain Herniation and Suboccipital Encephalocele in a Neonate: An Unusual Form of Double Encephalocele. ( 27867118 )
2016
38
Encephalocele presenting as an oropharyngeal mass. ( 25540148 )
2015
39
Basal transethmoidal encephalocele and malignant hypertension in a parturient with a seizure disorder. A case report. ( 25745752 )
2015
40
Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele. ( 26816952 )
2015
41
Cerebrospinal fluid rhinorrhea and seizure caused by temporo-sphenoidal encephalocele. ( 25932300 )
2015
42
Nasopharyngeal Mass Diagnosed as Transsphenoidal Encephalocele in an Adult Patient. ( 26595010 )
2015
43
Intraorbital Encephalocele Presenting with Exophthalmos and Orbital Dystopia : CT and MRI Findings. ( 25674346 )
2015
44
Parietal intradiploic encephalocele: Report of a case and review of the literature. ( 26246093 )
2015
45
Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele. ( 25658248 )
2015
46
Conjunctival Mass as an Initial Presentation of Iatrogenic Orbital Encephalocele. ( 26366625 )
2015
47
Subtle presentation of sincipital encephalocele in a child: Operative approach augmented by plastic surgery. ( 26409953 )
2015
48
Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele. ( 26294989 )
2015
49
Spontaneous Temporal Pole Encephalocele Presenting with Epilepsy: Report of Two Cases. ( 25913431 )
2015
50
Occult Encephalocele Causing Recurrent Meningitis. ( 26088840 )
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:

id Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.91 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
2 cilium GO:0005929 9.81 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 9.61 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
6 MKS complex GO:0036038 9.28 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN2
7 cytoskeleton GO:0005856 10.02 B9D1 B9D2 CC2D2A CEP290 KIF14 MKS1
8 cell projection GO:0042995 10 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.93 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
2 determination of left/right symmetry GO:0007368 9.71 CC2D2A MKS1 NPHP3 RPGRIP1L
3 non-motile cilium assembly GO:1905515 9.67 CC2D2A MKS1 RPGRIP1L
4 smoothened signaling pathway GO:0007224 9.65 B9D1 CC2D2A TCTN2 TCTN3 TMEM231
5 ciliary basal body docking GO:0097711 9.65 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
6 embryonic forelimb morphogenesis GO:0035115 9.63 ALX3 ALX4 RPGRIP1L
7 embryonic hindlimb morphogenesis GO:0035116 9.61 ALX3 ALX4 RPGRIP1L
8 limb morphogenesis GO:0035108 9.58 ALX4 RPGRIP1L
9 motile cilium assembly GO:0044458 9.57 CC2D2A MKS1
10 regulation of smoothened signaling pathway GO:0008589 9.56 MKS1 RPGRIP1L
11 olfactory bulb development GO:0021772 9.55 KIF14 RPGRIP1L
12 head development GO:0060322 9.54 MKS1 RPGRIP1L
13 camera-type eye development GO:0043010 9.54 B9D1 CC2D2A RPGRIP1L
14 embryonic brain development GO:1990403 9.51 CC2D2A MKS1
15 embryonic digit morphogenesis GO:0042733 9.5 ALX4 B9D1 MKS1
16 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.48 MKS1 NPHP3
17 cell projection organization GO:0030030 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN2
18 vasculature development GO:0001944 9.28 B9D1
19 neuroepithelial cell differentiation GO:0060563 9.22 B9D1

Sources for Encephalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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