MCID: ENC008
MIFTS: 48

Encephalocele

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

Aliases & Classifications for Encephalocele

MalaCards integrated aliases for Encephalocele:

Name: Encephalocele 54 30 6
Cranium Bifidum 54
Encephaloceles 55
Bifid Cranium 54
Cephalocele 54
Craniocele 54

Classifications:



External Ids:

ICD10 34 Q01 Q01.9

Summaries for Encephalocele

NINDS : 55 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, kidney and bone, and related phenotypes are cardiovascular system and cellular

NIH Rare Diseases : 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. 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 : 77 Encephalocele, is a neural tube defect characterized by sac-like protrusions of the brain and the... 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 232)
# Related Disease Score Top Affiliating Genes
1 occipital encephalocele 33.6 CEP290 COL18A1
2 meckel syndrome, type 4 31.4 CEP290 MKS1
3 meckel syndrome, type 2 31.1 MKS1 TMEM67
4 meckel syndrome, type 1 31.0 CC2D2A CEP290 MKS1 TMEM67
5 meckel syndrome, type 6 30.7 CC2D2A MKS1 TMEM67
6 meckel syndrome, type 3 30.6 CC2D2A CEP290 MKS1 TMEM67
7 bardet-biedl syndrome 14 29.6 CEP290 TMEM67
8 congenital hepatic fibrosis 29.6 CC2D2A TMEM67
9 coloboma of macula 29.4 CEP290 TMEM67
10 bardet-biedl syndrome 29.0 CEP290 MKS1 TMEM67
11 joubert syndrome 1 28.9 CC2D2A CEP290 MKS1 TMEM67
12 bardet-biedl syndrome 13 28.6 CC2D2A CEP290 MKS1 TMEM67
13 frontal encephalocele 12.4
14 basal encephalocele 12.4
15 parietal encephalocele 12.3
16 nasal encephalocele 12.3
17 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.2
18 isolated encephalocele 12.2
19 laryngeal atresia, encephalocele, and limb deformities 12.2
20 encephalocele anencephaly 12.0
21 knobloch syndrome 1 12.0
22 meningoencephalocele 12.0
23 zechi-ceide syndrome 11.9
24 knobloch syndrome 11.9
25 dk phocomelia syndrome 11.9
26 parietal foramina 1 11.7
27 radiohumeral fusions with other skeletal and craniofacial anomalies 11.6
28 acromelic frontonasal dysostosis 11.5
29 hydrocephalus 11.3
30 neural tube defects 11.3
31 frontonasal dysplasia 2 11.3
32 frontonasal dysplasia 3 11.3
33 nasal glial heterotopia 11.3
34 frontonasal dysplasia 1 11.3
35 meckel syndrome, type 8 11.1
36 meckel syndrome, type 9 11.1
37 boomerang dysplasia 11.0
38 craniotelencephalic dysplasia 11.0
39 frontofacionasal dysplasia 11.0
40 orofaciodigital syndrome iv 11.0
41 meckel syndrome, type 7 11.0
42 otopalatodigital syndrome, type ii 11.0
43 oculoauriculofrontonasal syndrome 11.0
44 meckel syndrome, type 5 11.0
45 meckel syndrome, type 10 11.0
46 craniofacial anomalies and anterior segment dysgenesis syndrome 11.0
47 meckel syndrome, type 11 11.0
48 meckel syndrome 12 11.0
49 meckel syndrome 13 11.0
50 midface dysplasia 11.0

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to Encephalocele

Symptoms & Phenotypes for Encephalocele

MGI Mouse Phenotypes related to Encephalocele:

47
# 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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational 69-65-8 6251 453
2
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
3
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
4
leucovorin Approved Not Applicable 58-05-9 143 6006
5
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
6
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
7
Cobalamin Experimental Not Applicable 13408-78-1 6857388
8 Plasminogen
9 Tissue Plasminogen Activator
10 Vitamin B9 Not Applicable
11 Vitamin B Complex Not Applicable
12 Nutrients Not Applicable
13 Trace Elements Not Applicable
14 Vitamin B12 Not Applicable
15 Micronutrients Not Applicable
16 Folate Not Applicable
17 Vitamins Not Applicable
18 Vitamin B 12 Not Applicable
19 Hematinics 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 30

Anatomical Context for Encephalocele

MalaCards organs/tissues related to Encephalocele:

42
Brain, Kidney, Bone, Pituitary, Temporal Lobe, Heart, Cerebellum

Publications for Encephalocele

Articles related to Encephalocele:

(show top 50) (show all 677)
# Title Authors Year
1
Frontoethmoidal encephalocele. Report of a case. ( 29610064 )
2019
2
Sublabial transsphenoidal microsurgical technique to treat congenital transsphenoidal encephalocele: a technical note. ( 30607614 )
2019
3
Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome. ( 30617574 )
2019
4
The Prevalence of Superior Semicircular Canal Dehiscence in Patients With Mastoid Encephalocele or Cerebrospinal Fluid Otorrhea. ( 30870362 )
2019
5
A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population. ( 31020390 )
2019
6
Medial Temporal Encephalocele and Medically Intractable Epilepsy: A Tailored Inferior Temporal Lobectomy and Case Report. ( 31079152 )
2019
7
Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration. ( 29962502 )
2018
8
A dural arteriovenous fistula associated with an encephalocele presenting as otitis media with effusion. ( 30322412 )
2018
9
Cognitive improvement following repair of a basal encephalocele. ( 29250724 )
2018
10
Basal Encephalocele Presenting with Bitemporal Hemianopsia in an Adult Male. ( 29796049 )
2018
11
Endoscopic trans-nasal repair of basal encephalocele associated with morning glory syndrome. ( 30095018 )
2018
12
Giant Occipital Encephalocele with Chiari Malformation Type 3. ( 30271061 )
2018
13
Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case. ( 30983739 )
2018
14
Intradiploic encephalocele of the primary motor cortex in an adult patient: electrophysiological implications during surgery. ( 28452617 )
2018
15
Frontoethmoidal encephalocele: a pediatric airway challenge. ( 29038955 )
2018
16
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
17
Matriderm for Management of Scalp Necrosis Following Surgical Treatment of Giant Parietal Encephalocele. ( 29102755 )
2018
18
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 )
2018
19
Frontoethmoidal encephalocele: clinical presentation, diagnosis, treatment, and complications in 400 cases. ( 29305685 )
2018
20
Encephalocele presenting as lower lid swelling: A rare case report. ( 29480266 )
2018
21
Temporal lobe encephalocele, a subtle structural lesion that can be associated with temporal lobe epilepsy. ( 29525398 )
2018
22
Neurosurgical Interventions for Occipital Encephalocele. ( 29682014 )
2018
23
Modified two flap palatoplasty in asymptomatic transsphenoidal encephalocele: a case report. ( 29732314 )
2018
24
Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report. ( 29782331 )
2018
25
Transethmoidal Encephalocele and High Intracranial Pressure. ( 29860253 )
2018
26
Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Patient with Dandy-Walker Malformation. ( 29890274 )
2018
27
Giant Occipitocervical Encephalocele. ( 30069102 )
2018
28
Double Encephalocele: An Unusual Presentation. ( 30090153 )
2018
29
A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries. ( 30105815 )
2018
30
A case of "familial atretic encephalocele". ( 30151917 )
2018
31
Unusual, Acute, and Delayed Traumatic Torcular Herophili Epidural Hematoma Causing Malignant Encephalocele During Surgery: A Case Report. ( 30154398 )
2018
32
Frontoethmoidal encephalocele in a cat. ( 30159162 )
2018
33
A Brief Review of Giant Occipital Encephalocele. ( 30271032 )
2018
34
Beals syndrome with middle and inner ear dysplasia and encephalocele: A case report and review of imaging findings. ( 30579083 )
2018
35
Cerebrospinal Fluid Rhinorrhea due to Transethmoidal Encephalocele Following Occipital Meningioma Resection in an Adult: A Case Report. ( 30583301 )
2018
36
Frontoethmoidal encephalocele presenting in concert with schizencephaly. ( 30603230 )
2018
37
A Case of Mesial Temporal Lobe Sclerosis Following Temporal Bone Encephalocele Repair for Medically Refractory Seizures. ( 30693169 )
2018
38
Growth Hormone Deficiency, Basal Encephalocele, and Morning Glory Anomaly. ( 28938928 )
2017
39
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. ( 27729302 )
2017
40
Perioperative Management of Children With Giant Encephalocele: A Clinical Report of 29 Cases. ( 26841351 )
2017
41
Surgical resection of large encephalocele: a report of two cases and consideration of resectability based on developmental morphology. ( 27822763 )
2017
42
Giant Parietal Encephalocele with Massive Brain Herniation and Suboccipital Encephalocele in a Neonate: An Unusual Form of Double Encephalocele. ( 27867118 )
2017
43
A Retrospective Analysis of Neonatal Encephalocele Predisposing Factors and Outcomes. ( 27931021 )
2017
44
Nontraumatic orbital roof encephalocele. ( 27993731 )
2017
45
Parietal intradiploic encephalocele in an adult: a delayed complication of pediatric head injury? ( 28005171 )
2017
46
Interdisciplinary Management of Minimally Displaced Orbital Roof Fractures: Delayed Pulsatile Exophthalmos and Orbital Encephalocele. ( 28210402 )
2017
47
Symptomatic Parietal Intradiploic Encephalocele-A Case Report and Literature Review. ( 28316901 )
2017
48
Repair of Frontoethmoidal Encephalocele in the Philippines: An Account of 30 Cases Between 2008-2013. ( 28344182 )
2017
49
Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India. ( 28398708 )
2017
50
Treatment of a Large Traumatic Encephalocele with Titanium Mesh. ( 28523088 )
2017

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 rs1553827236 GRCh37 Chromosome 4, 15518380: 15518380
4 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic rs1553827236 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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