MCID: ENC008
MIFTS: 45

Encephalocele

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Encephalocele

MalaCards integrated aliases for Encephalocele:

Name: Encephalocele 53 29 6
Cranium Bifidum 53
Encephaloceles 54
Bifid Cranium 53
Cephalocele 53
Craniocele 53

Classifications:



External Ids:

ICD10 33 Q01 Q01.9

Summaries for Encephalocele

NINDS : 54 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 meckel syndrome, type 4. An important gene associated with Encephalocele is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs Mannitol and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and temporal lobe, and related phenotypes are cardiovascular system and cellular

NIH Rare Diseases : 53 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.

Wikipedia : 76 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 202)
# Related Disease Score Top Affiliating Genes
1 occipital encephalocele 33.6 CEP290 COL18A1
2 meckel syndrome, type 4 31.6 CEP290 MKS1
3 meckel syndrome, type 1 31.3 CC2D2A CEP290 MKS1 TMEM67
4 meckel syndrome, type 2 31.2 MKS1 TMEM67
5 meckel syndrome, type 3 30.9 CC2D2A CEP290 MKS1 TMEM67
6 meckel syndrome, type 6 30.9 CC2D2A MKS1 TMEM67
7 congenital hepatic fibrosis 29.4 CC2D2A TMEM67
8 bardet-biedl syndrome 29.2 CEP290 MKS1 TMEM67
9 joubert syndrome 1 29.1 CC2D2A CEP290 MKS1 TMEM67
10 frontal encephalocele 12.4
11 basal encephalocele 12.3
12 parietal encephalocele 12.3
13 nasal encephalocele 12.2
14 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.2
15 isolated encephalocele 12.2
16 laryngeal atresia, encephalocele, and limb deformities 12.1
17 encephalocele anencephaly 12.0
18 knobloch syndrome 1 12.0
19 meningoencephalocele 11.9
20 zechi-ceide syndrome 11.9
21 knobloch syndrome 11.9
22 dk phocomelia syndrome 11.9
23 parietal foramina 1 11.7
24 radiohumeral fusions with other skeletal and craniofacial anomalies 11.6
25 acromelic frontonasal dysostosis 11.4
26 brachial amelia, cleft lip, and holoprosencephaly 11.3
27 hydrocephalus 11.3
28 neural tube defects 11.3
29 frontonasal dysplasia 1 11.3
30 frontonasal dysplasia 2 11.3
31 frontonasal dysplasia 3 11.3
32 meckel syndrome, type 8 11.1
33 meckel syndrome, type 9 11.1
34 boomerang dysplasia 10.9
35 craniotelencephalic dysplasia 10.9
36 frontofacionasal dysplasia 10.9
37 orofaciodigital syndrome iv 10.9
38 meckel syndrome, type 7 10.9
39 otopalatodigital syndrome, type ii 10.9
40 oculoauriculofrontonasal syndrome 10.9
41 meckel syndrome, type 5 10.9
42 meckel syndrome, type 10 10.9
43 craniofacial anomalies and anterior segment dysgenesis syndrome 10.9
44 meckel syndrome, type 11 10.9
45 meckel syndrome 12 10.9
46 meckel syndrome 13 10.9
47 acrofrontofacionasal dysostosis 10.9
48 amniotic band syndrome 10.9
49 schisis association 10.9
50 nasal glial heterotopia 10.9

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to Encephalocele

Symptoms & Phenotypes for Encephalocele

MGI Mouse Phenotypes related to Encephalocele:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 CC2D2A CEP290 COL18A1 MKS1 TMEM67
2 cellular MP:0005384 9.77 CC2D2A CEP290 COL18A1 MKS1 TMEM67
3 craniofacial MP:0005382 9.72 CC2D2A CEP290 COL18A1 MKS1 TMEM67
4 nervous system MP:0003631 9.65 CC2D2A CEP290 COL18A1 MKS1 TMEM67
5 renal/urinary system MP:0005367 9.55 CC2D2A CEP290 COL18A1 MKS1 TMEM67
6 skeleton MP:0005390 9.26 CEP290 COL18A1 MKS1 TMEM67
7 vision/eye MP:0005391 8.92 CC2D2A CEP290 COL18A1 MKS1

Drugs & Therapeutics for Encephalocele

Drugs for Encephalocele (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational 69-65-8 453 6251
2
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
3
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
4
leucovorin Approved Not Applicable 58-05-9 6006 143
5
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
6
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
7
Cobalamin Experimental Not Applicable 13408-78-1 6438156
8 Plasminogen
9 Tissue Plasminogen Activator
10 Vitamins Not Applicable
11 Micronutrients Not Applicable
12 Vitamin B9 Not Applicable
13 Vitamin B Complex Not Applicable
14 Folate Not Applicable
15 Hematinics Not Applicable
16 Trace Elements Not Applicable
17 Vitamin B 12 Not Applicable
18 Vitamin B12 Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Management Following Lumbar Puncture In Children Unknown status NCT02590718 Not Applicable
2 Acute Stroke Advancing Program Using Telemedicine Unknown status NCT02088346
3 Molecular Mechanisms of Malignant Cerebral Edema After LHI Recruiting NCT03703284
4 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable
5 Optimization Lumbar Puncture In Children Withdrawn NCT02454894 Not Applicable lidocaine

Search NIH Clinical Center for Encephalocele

Genetic Tests for Encephalocele

Genetic tests related to Encephalocele:

# Genetic test Affiliating Genes
1 Encephalocele 29

Anatomical Context for Encephalocele

MalaCards organs/tissues related to Encephalocele:

41
Brain, Bone, Temporal Lobe, Pituitary, Kidney, Liver, Skin

Publications for Encephalocele

Articles related to Encephalocele:

(show top 50) (show all 667)
# Title Authors Year
1
Modified two flap palatoplasty in asymptomatic transsphenoidal encephalocele: a case report. ( 29732314 )
2018
2
Temporal lobe encephalocele, a subtle structural lesion that can be associated with temporal lobe epilepsy. ( 29525398 )
2018
3
Encephalocele presenting as lower lid swelling: A rare case report. ( 29480266 )
2018
4
Frontoethmoidal encephalocele: clinical presentation, diagnosis, treatment, and complications in 400 cases. ( 29305685 )
2018
5
Basal Encephalocele Presenting with Bitemporal Hemianopsia in an Adult Male. ( 29796049 )
2018
6
Frontoethmoidal encephalocele. Report of a case. ( 29610064 )
2018
7
Matriderm for Management of Scalp Necrosis Following Surgical Treatment of Giant Parietal Encephalocele. ( 29102755 )
2018
8
Frontoethmoidal encephalocele: a pediatric airway challenge. ( 29038955 )
2018
9
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
10
Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration. ( 29962502 )
2018
11
Transethmoidal Encephalocele and High Intracranial Pressure. ( 29860253 )
2018
12
Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report. ( 29782331 )
2018
13
Neurosurgical Interventions for Occipital Encephalocele. ( 29682014 )
2018
14
A dural arteriovenous fistula associated with an encephalocele presenting as otitis media with effusion. ( 30322412 )
2018
15
Endoscopic trans-nasal repair of basal encephalocele associated with morning glory syndrome. ( 30095018 )
2018
16
Giant Occipital Encephalocele with Chiari Malformation Type 3. ( 30271061 )
2018
17
Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Patient with Dandy-Walker Malformation. ( 29890274 )
2018
18
Giant Occipitocervical Encephalocele. ( 30069102 )
2018
19
Double Encephalocele: An Unusual Presentation. ( 30090153 )
2018
20
A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries. ( 30105815 )
2018
21
A case of "familial atretic encephalocele". ( 30151917 )
2018
22
Unusual, Acute, and Delayed Traumatic Torcular Herophili Epidural Hematoma Causing Malignant Encephalocele During Surgery: A Case Report. ( 30154398 )
2018
23
Frontoethmoidal encephalocele in a cat. ( 30159162 )
2018
24
A Brief Review of Giant Occipital Encephalocele. ( 30271032 )
2018
25
Cognitive improvement following repair of a basal encephalocele. ( 29250724 )
2017
26
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. ( 27729302 )
2017
27
Anteroinferior Temporal Encephalocele: A Surgically Treatable Cause of Pharmacoresistant Epilepsy. ( 28823797 )
2017
28
Growth Hormone Deficiency, Basal Encephalocele, and Morning Glory Anomaly. ( 28938928 )
2017
29
A case of cranium bifidum with meningocele in Ayrshire calf. ( 28086878 )
2017
30
Symptomatic Parietal Intradiploic Encephalocele-A Case Report and Literature Review. ( 28316901 )
2017
31
Cranium Bifidum Occultum Associated with Hypertelorism Treated with Posterior Vault Reconstruction and Orbital Box Osteotomies: Case Report and Technical Note. ( 28522383 )
2017
32
Treatment of a Large Traumatic Encephalocele with Titanium Mesh. ( 28523088 )
2017
33
Interdisciplinary Management of Minimally Displaced Orbital Roof Fractures: Delayed Pulsatile Exophthalmos and Orbital Encephalocele. ( 28210402 )
2017
34
Encephalocele development from a congenital meningocele: case report. ( 28885087 )
2017
35
Secondary encephalocele in infant following subdural empyema repaired endoscopically-A case report. ( 28802374 )
2017
36
Utility of CISS sequence in detecting anteroinferior temporal encephalocele. ( 28991716 )
2017
37
Nasoethmoid-nasoorbital encephalocele presenting with orbital pulsation. ( 28643036 )
2017
38
Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India. ( 28398708 )
2017
39
Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex. ( 29138704 )
2017
40
Intradiploic encephalocele of the primary motor cortex in an adult patient: electrophysiological implications during surgery. ( 28452617 )
2017
41
A Giant Occipital Encephalocele in Neonate with Spontaneous Hemorrhage into the Encephalocele Sac: Surgical Management. ( 29204205 )
2017
42
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
43
Repair of Frontoethmoidal Encephalocele in the Philippines: An Account of 30 Cases Between 2008-2013. ( 28344182 )
2017
44
Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. ( 27218030 )
2016
45
Surgical resection of large encephalocele: a report of two cases and consideration of resectability based on developmental morphology. ( 27822763 )
2016
46
Posttraumatic giant fronto-orbito encephalocele causing cosmetic disfiguring forehead swelling with proptosis: Management. ( 28217161 )
2016
47
Giant Interfrontal Encephalocele in an Infant: A Rare Entity. ( 27513987 )
2016
48
Prenatal detection of congenital high airway obstruction syndrome with encephalocele. ( 27081227 )
2016
49
Giant Parietal Encephalocele with Massive Brain Herniation and Suboccipital Encephalocele in a Neonate: An Unusual Form of Double Encephalocele. ( 27867118 )
2016
50
Successful Treatment of Large Occipital Encephalocele Presenting with Bilateral Vocal Cord Paralysis: A Case Report. ( 29901361 )
2016

Variations for Encephalocele

ClinVar genetic disease variations for Encephalocele:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
2 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
3 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 4, 15518380: 15518380
4 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 4, 15516757: 15516757

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 cytoskeleton GO:0005856 9.62 CC2D2A CEP290 MKS1 TMEM67
2 cell projection GO:0042995 9.56 CC2D2A CEP290 MKS1 TMEM67
3 centrosome GO:0005813 9.54 CEP290 MKS1 TMEM67
4 cilium GO:0005929 9.46 CC2D2A CEP290 MKS1 TMEM67
5 centriole GO:0005814 9.43 CEP290 MKS1
6 ciliary basal body GO:0036064 9.4 CEP290 MKS1
7 ciliary transition zone GO:0035869 9.26 CC2D2A CEP290 MKS1 TMEM67
8 MKS complex GO:0036038 8.92 CC2D2A CEP290 MKS1 TMEM67

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.46 CC2D2A CEP290 MKS1 TMEM67
2 neural tube closure GO:0001843 9.43 CC2D2A MKS1
3 determination of left/right symmetry GO:0007368 9.4 CC2D2A MKS1
4 non-motile cilium assembly GO:1905515 9.37 CC2D2A MKS1
5 motile cilium assembly GO:0044458 9.32 CC2D2A MKS1
6 embryonic brain development GO:1990403 9.26 CC2D2A MKS1
7 cell projection organization GO:0030030 9.26 CC2D2A CEP290 MKS1 TMEM67
8 ciliary basal body-plasma membrane docking GO:0097711 8.92 CC2D2A CEP290 MKS1 TMEM67

Sources for Encephalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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