MCID: ENC008
MIFTS: 48

Encephalocele malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Encephalocele

Aliases & Descriptions for Encephalocele:

Name: Encephalocele 50
Encephaloceles 51 29
Cranium Bifidum 50
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  (excessive accumulation of cerebrospinal fluid in the brain),  (paralysis of the arms and legs),  (abnormally small head),  (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 encephaloceles, is related to occipital encephalocele and frontal encephalocele. An important gene associated with Encephalocele is COL18A1 (Collagen Type XVIII Alpha 1 Chain), 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 cardiovascular system and craniofacial

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 : 71 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 172)
id Related Disease Score Top Affiliating Genes
1 occipital encephalocele 12.1
2 frontal encephalocele 12.1
3 basal encephalocele 12.0
4 parietal encephalocele 12.0
5 nasal encephalocele 12.0
6 isolated encephalocele 11.9
7 encephalocele anencephaly 11.7
8 knobloch syndrome 11.6
9 parietal foramina 1 11.6
10 dk phocomelia syndrome 11.6
11 knobloch syndrome, type 1 11.5
12 meningoencephalocele 11.5
13 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 11.3
14 meckel syndrome 1 11.1
15 hydrocephalus 11.1
16 neural tube defects 11.0
17 zechi-ceide syndrome 11.0
18 meckel syndrome 3 10.8
19 meckel syndrome 4 10.8
20 meckel syndrome 8 10.8
21 meckel syndrome 9 10.8
22 brachial amelia, forebrain defects and facial clefts 10.7
23 frontonasal dysplasia 1 10.7
24 orofaciodigital syndrome iv 10.7
25 amniotic band syndrome 10.7
26 meckel syndrome 12 10.7
27 meckel syndrome 2 10.7
28 meckel syndrome 7 10.7
29 meckel syndrome 5 10.7
30 meckel syndrome 11 10.7
31 meckel syndrome 6 10.7
32 oculoauriculofrontonasal syndrome 10.7
33 meckel syndrome 10 10.7
34 craniofacial anomalies and anterior segment dysgenesis syndrome 10.7
35 nasal glial heterotopia 10.7
36 cranial meningocele 10.3
37 frontonasal dysplasia 3 10.2 CEP290 TMEM67
38 total spina bifida cystica 10.2 ALX3 ALX4 TGIF1
39 nephronophthisis 4 10.1 NPHP3 TMEM67
40 cornelia de lange syndrome 5 10.1 CEP290 TCTN3 TMEM67
41 cerebral atherosclerosis 10.1 CEP290 NPHP3 TMEM67
42 breast angiosarcoma 10.1 TCTN3 TMEM216 TMEM231
43 2,4-dienoyl-coa reductase deficiency 10.1 TCTN3 TMEM216 TMEM231
44 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 10.1 ALX3 MKS1 TMEM216 TMEM67
45 epilepsy 10.0
46 spinocerebellar ataxia 30 10.0 TCTN2 TCTN3
47 meningitis 10.0
48 cervicothoracic spina bifida aperta 10.0 COL18A1 CYP26B1 DACT1 TCTN3
49 glioma 9.9
50 retinitis pigmentosa 41 9.9 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:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 B9D1 CC2D2A CEP290 COL18A1 CYP26B1 DACT1
2 craniofacial MP:0005382 10.34 ALX3 ALX4 B9D1 CC2D2A CEP290 COL18A1
3 cellular MP:0005384 10.32 NPHP3 TCTN2 TGIF1 TMEM67 ALX3 B9D1
4 growth/size/body region MP:0005378 10.28 ALX3 ALX4 B9D1 B9D2 CC2D2A CEP290
5 embryo MP:0005380 10.27 ALX3 ALX4 B9D1 CC2D2A CYP26B1 DACT1
6 mortality/aging MP:0010768 10.24 ALX3 ALX4 B9D1 B9D2 CC2D2A CEP290
7 nervous system MP:0003631 10.22 ALX3 ALX4 B9D1 CC2D2A CEP290 COL18A1
8 limbs/digits/tail MP:0005371 10.18 ALX3 ALX4 B9D1 CC2D2A CYP26B1 DACT1
9 digestive/alimentary MP:0005381 10.13 ALX3 ALX4 B9D1 B9D2 CC2D2A DACT1
10 renal/urinary system MP:0005367 9.91 B9D1 CC2D2A CEP290 COL18A1 DACT1 MKS1
11 respiratory system MP:0005388 9.81 ALX3 ALX4 B9D2 CC2D2A CEP290 CYP26B1
12 skeleton MP:0005390 9.73 CEP290 COL18A1 CYP26B1 DACT1 KIF14 MKS1
13 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
1 Management Following Lumbar Puncture In Children Not yet recruiting NCT02590718
2 Optimization Lumbar Puncture In Children Withdrawn NCT02454894

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 677)
id Title Authors Year
1
Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach. ( 27729302 )
2017
2
Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report. ( 26851742 )
2016
3
Response To Dr. Tang Letter to Editor: Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. ( 27218031 )
2016
4
Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. ( 27057033 )
2016
5
Combined supra-transorbital keyhole approach for treatment of delayed intraorbital encephalocele: A minimally invasive approach for an unusual complication of decompressive craniectomy. ( 26862452 )
2016
6
Perioperative Management of Children With Giant Encephalocele: A Clinical Report of 29 Cases. ( 26841351 )
2016
7
Secondary adult encephalocele with abscess formation of calcified frontal sinus mucocele. ( 26753900 )
2016
8
A Retrospective Analysis of Neonatal Encephalocele Predisposing Factors and Outcomes. ( 27931021 )
2016
9
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
10
Giant Interfrontal Encephalocele in an Infant: A Rare Entity. ( 27513987 )
2016
11
Traumatic orbital encephalocele: Presentation and imaging. ( 26905453 )
2016
12
Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed. ( 27218030 )
2016
13
Surgical resection of large encephalocele: a report of two cases and consideration of resectability based on developmental morphology. ( 27822763 )
2016
14
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
15
Giant Parietal Encephalocele with Massive Brain Herniation and Suboccipital Encephalocele in a Neonate: An Unusual Form of Double Encephalocele. ( 27867118 )
2016
16
Nontraumatic orbital roof encephalocele. ( 27993731 )
2016
17
Serpentine-like syndrome associated with encephalocele. ( 26950236 )
2016
18
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. ( 26876766 )
2016
19
Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy. ( 27020612 )
2016
20
Acquired Encephalocele With Hydrocephalus and Pineal Region Epidermoid Cyst. ( 27315314 )
2016
21
Epilepsy with temporal encephalocele: Characteristics of electrocorticography and surgical outcome. ( 26682848 )
2016
22
Prenatal detection of congenital high airway obstruction syndrome with encephalocele. ( 27081227 )
2016
23
Primary Occipital Encephalocele in an Elderly Patient. ( 26999692 )
2016
24
ALX4 related parietal foramina mimicking encephalocele in antenatal period. ( 27080046 )
2016
25
Parietal intradiploic encephalocele in an adult: a delayed complication of pediatric head injury? ( 28005171 )
2016
26
Cerebrospinal fluid rhinorrhea and seizure caused by temporo-sphenoidal encephalocele. ( 25932300 )
2015
27
Basal transethmoidal encephalocele and malignant hypertension in a parturient with a seizure disorder. A case report. ( 25745752 )
2015
28
Endoscopic transnasal repair of cerebrospinal fluid leaks with and without an encephalocele in pediatric patients: from infants to children. ( 25976865 )
2015
29
Partial thickness autologus calvarial bone orbitocranioplasty for a sphenorbital encephalocele presenting as pulsatile exophthalmos. ( 25972944 )
2015
30
Temporal anteroinferior encephalocele: An underrecognized etiology of temporal lobe epilepsy? ( 26408489 )
2015
31
Idiopathic Intracranial Hypertension: The "Moth-eaten" Skull Base and Encephaloceles. ( 26328792 )
2015
32
Prenatal Diagnosis of A Case with Frontoethmoidal Encephalocele and the Neonatal Outcome. ( 26393172 )
2015
33
Conjunctival Mass as an Initial Presentation of Iatrogenic Orbital Encephalocele. ( 26366625 )
2015
34
Pilocytic astrocytoma presenting as an orbital encephalocele: a case report. ( 26034483 )
2015
35
Combined transnasal and transoral endoscopic approach to a transsphenoidal encephalocele in an infant. ( 25712744 )
2015
36
Intraorbital Encephalocele Presenting with Exophthalmos and Orbital Dystopia : CT and MRI Findings. ( 25674346 )
2015
37
Traumatic fronto-ethmoidal encephalocele: a rare case. ( 25745349 )
2015
38
Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele. ( 26294989 )
2015
39
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. ( 25848158 )
2015
40
Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele. ( 26816952 )
2015
41
Occult Encephalocele Causing Recurrent Meningitis. ( 26088840 )
2015
42
Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. ( 26267579 )
2015
43
Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele. ( 25658248 )
2015
44
Subtle presentation of sincipital encephalocele in a child: Operative approach augmented by plastic surgery. ( 26409953 )
2015
45
Mechanism and surgical management of transsellar transsphenoidal encephalocele. ( 26256066 )
2015
46
Parietal intradiploic encephalocele: Report of a case and review of the literature. ( 26246093 )
2015
47
Nasopharyngeal Mass Diagnosed as Transsphenoidal Encephalocele in an Adult Patient. ( 26595010 )
2015
48
Congenital interparietal encephalocele: a case report. ( 26023594 )
2015
49
Spontaneous Temporal Pole Encephalocele Presenting with Epilepsy: Report of Two Cases. ( 25913431 )
2015
50
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
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 18)
id Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.93 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
2 smoothened signaling pathway GO:0007224 9.72 B9D1 CC2D2A TCTN2 TCTN3 TMEM231
3 determination of left/right symmetry GO:0007368 9.71 CC2D2A MKS1 NPHP3 RPGRIP1L
4 camera-type eye development GO:0043010 9.67 B9D1 CC2D2A RPGRIP1L
5 non-motile cilium assembly GO:1905515 9.67 CC2D2A MKS1 NPHP3 RPGRIP1L
6 embryonic digit morphogenesis GO:0042733 9.65 ALX4 B9D1 MKS1
7 ciliary basal body docking GO:0097711 9.65 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
8 embryonic forelimb morphogenesis GO:0035115 9.63 ALX3 ALX4 RPGRIP1L
9 embryonic hindlimb morphogenesis GO:0035116 9.61 ALX3 ALX4 RPGRIP1L
10 establishment or maintenance of cell polarity GO:0007163 9.58 NPHP3 RPGRIP1L
11 motile cilium assembly GO:0044458 9.57 CC2D2A MKS1
12 limb morphogenesis GO:0035108 9.56 ALX4 RPGRIP1L
13 regulation of smoothened signaling pathway GO:0008589 9.55 MKS1 RPGRIP1L
14 olfactory bulb development GO:0021772 9.54 KIF14 RPGRIP1L
15 head development GO:0060322 9.52 MKS1 RPGRIP1L
16 embryonic brain development GO:1990403 9.51 CC2D2A MKS1
17 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.43 DACT1 MKS1 NPHP3
18 cell projection organization GO:0030030 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN2

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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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