MCID: ENC008
MIFTS: 48

Encephalocele malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Encephalocele

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Aliases & Descriptions for Encephalocele:

Name: Encephalocele 46
Encephaloceles 47 25
Cranium Bifidum 46
 
Bifid Cranium 46
Cephalocele 46
Craniocele 46

Classifications:



External Ids:

ICD1028 Q01, Q01.9

Summaries for Encephalocele

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NINDS:47 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 MKS1 (Meckel Syndrome, Type 1), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, bone and temporal lobe, and related mouse phenotypes are liver/biliary system and renal/urinary system.

NIH Rare Diseases:46 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:69 Encephalocele, sometimes known as cranium bifidum, is a neural tube defect characterized by sac-like... more...

Related Diseases for Encephalocele

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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 166)
idRelated DiseaseScoreTop Affiliating Genes
1occipital encephalocele12.2
2frontal encephalocele12.2
3basal encephalocele12.2
4parietal encephalocele12.1
5nasal encephalocele12.1
6isolated encephalocele12.0
7encephalocele anencephaly11.8
8parietal foramina 111.6
9dk phocomelia syndrome11.5
10knobloch syndrome11.5
11knobloch syndrome, type 111.5
12meningoencephalocele11.2
13craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies11.2
14zechi-ceide syndrome11.1
15brachial amelia, forebrain defects and facial clefts10.8
16cranial meningocele10.4
17frontonasal dysplasia 110.4
18corneal dystrophy, congenital stromal10.3CEP290, TMEM67
19isobutyryl-coa dehydrogenase deficiency10.3MKS1, TMEM216, TMEM67
20acromelic frontonasal dysostosis10.3
21meckel syndrome 110.2
22hydrocephalus10.2
23huntington disease-like 310.2CC2D2A, RPGRIP1L, TMEM67
24epilepsy10.2
25meningitis10.1
26frontonasal dysplasia 210.1
27frontonasal dysplasia 310.1
28frontofacionasal dysplasia10.1
29phakomatosis pigmentokeratotica10.1COL18A1, CYP26B1, TCTN3
30glioma10.1
31chiari malformation10.1CC2D2A, CEP290, TMEM216, TMEM231
32auditory agnosia10.0CC2D2A, TMEM216, TMEM231
33meningocele10.0
34exophthalmos10.0
35cerebrospinal fluid leak10.0
36acrofacial dysostosis10.0RPGRIP1L, TCTN3, TMEM216, TMEM231
37temporal lobe epilepsy10.0
38teratoma10.0
39meckel syndrome 310.0
40meckel syndrome 410.0
41meckel syndrome 810.0
42meckel syndrome 910.0
43neural tube defects9.9
44microcephaly9.9
45cerebritis9.9
46creatine deficiency syndromes9.9B9D2, CC2D2A, RPGRIP1L, TMEM67
47anencephaly9.9
48hemangioma9.9
49mastoiditis9.9
50nasopharyngitis9.9

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to encephalocele

Symptoms for Encephalocele

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Drugs & Therapeutics for Encephalocele

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Management Following Lumbar Puncture In ChildrenNot yet recruitingNCT02590718
2Optimization Lumbar Puncture In ChildrenWithdrawnNCT02454894

Search NIH Clinical Center for Encephalocele

Genetic Tests for Encephalocele

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Genetic tests related to Encephalocele:

id Genetic test Affiliating Genes
1 Encephalocele25

Anatomical Context for Encephalocele

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MalaCards organs/tissues related to Encephalocele:

34
Brain, Bone, Temporal lobe, Pituitary, Kidney, Cerebellum, Eye

Animal Models for Encephalocele or affiliated genes

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MGI Mouse Phenotypes related to Encephalocele:

39 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.3B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:00053678.4B9D1, CC2D2A, CEP290, COL18A1, MKS1, NPHP3
3MP:00053887.6ALX3, ALX4, B9D2, CC2D2A, CEP290, CYP26B1
4MP:00053817.5ALX3, ALX4, B9D1, B9D2, CC2D2A, MKS1
5MP:00053857.0B9D1, CC2D2A, CEP290, COL18A1, CYP26B1, MKS1
6MP:00053906.4ALX3, ALX4, CEP290, COL18A1, CYP26B1, KIF14
7MP:00053866.3ALX3, ALX4, B9D1, CC2D2A, CEP290, KIF14
8MP:00053846.3ALX3, B9D1, B9D2, CC2D2A, CEP290, COL18A1
9MP:00053806.2ALX3, ALX4, B9D1, CC2D2A, CYP26B1, MKS1
10MP:00053825.9ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1
11MP:00053715.8ALX3, ALX4, B9D1, CC2D2A, CYP26B1, MKS1
12MP:00053915.7ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1
13MP:00053785.6ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
14MP:00107685.4ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
15MP:00036315.2ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1

Publications for Encephalocele

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Articles related to Encephalocele:

(show top 50)    (show all 671)
idTitleAuthorsYear
1
Serpentine-like syndrome associated with encephalocele. (26950236)
2016
2
Perioperative Management of Children With Giant Encephalocele: A Clinical Report of 29 Cases. (26841351)
2016
3
Combined transnasal and transoral endoscopic approach to a transsphenoidal encephalocele in an infant. (25712744)
2015
4
Basal transethmoidal encephalocele and malignant hypertension in a parturient with a seizure disorder. A case report. (25745752)
2015
5
Basal encephalocele in an adult patient presenting with minor anomalies: a case report. (24468320)
2014
6
Unusual cause of the headache and hypophyseal insufficient: intrasphenoidal encephalocele. (24666196)
2014
7
Frontoethmoidal encephalocele: Case report and review on management. (25593873)
2014
8
Bilateral middle cranial fossa encephaloceles presenting as conductive hearing loss. (24366708)
2013
9
Frontal sinus encephalocele: case report and review of literature. (23830498)
2013
10
Congenital occipital encephalocele with Dabska tumor: report of an unusual case. (22831960)
2012
11
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
12
Reliability of preoperative assessment of cerebrospinal fluid pressure in the management of spontaneous cerebrospinal fluid leaks and encephaloceles. (22287374)
2011
13
Perioperative management of children with encephalocele: an institutional experience. (21633311)
2011
14
Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature. (20160426)
2010
15
The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele. (22767665)
2010
16
Neural tube defects in Australia: trends in encephaloceles and other neural tube defects before and after promotion of folic acid supplementation and voluntary food fortification. (19180646)
2009
17
Septo-optic dysplasia with encephalocele. (19766496)
2009
18
Anesthesia in neonates with large encephaloceles. (19645984)
2009
19
Endoscopic surgery for nasal glioma mimicking encephalocele in infancy. (19412410)
2008
20
Idiopathic temporal bone encephalocele. (18330429)
2007
21
Discordant encephalocele in monozygotic twins. (16470746)
2006
22
Concordant occipital encephalocele in monoamniotic twins. (16211777)
2005
23
Bilateral orbital hematomas with an orbital encephalocele mimicking a cavernous sinus thrombosis. (16173450)
2005
24
Intrasphenoidal transsellar encephalocele repaired by endoscopic approach. (14587981)
2003
25
Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen. (12605444)
2003
26
Craniofacial surgery for giant frontonasal encephalocele in a neonate. (12383426)
2002
27
Spontaneous resolution of a sphenoid sinus encephalocele. Case illustration. (10701545)
2000
28
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. (10517481)
1999
29
A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity. (10712719)
1999
30
Intrathecal morphine for postoperative analgesia following repair of frontal encephaloceles in children: comparison with intermittent, on-demand dosing of nalbuphine. (9195349)
1997
31
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (8776601)
1996
32
Long-term outcome in surgically treated encephalocele. (8362349)
1993
33
Spontaneous temporal encephalocele. Case report. (8433155)
1993
34
Endaural encephalocele. (1589224)
1992
35
Transalar sphenoidal encephalocele. Uncommon clinical and radiological findings. (1999078)
1991
36
Developmental anterobasal temporal encephalocele and temporal lobe epilepsy. (2033453)
1991
37
Intrasphenoidal encephalocele. (1901161)
1991
38
Morphological evaluation for neuronal maturation in anencephaly and encephalocele in human neonates. A proposal of reclassification of cephalic dysraphism. (2257550)
1990
39
A case of temporal encephalocele. (2383870)
1990
40
Management of anterior encephalocele. (2095303)
1990
41
Basal transsphenoidal encephalocele: MR findings. (2505585)
1989
42
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
43
Occipital encephaloceles with and without visual evoked potentials. (4816837)
1974
44
Occipital encephalocele after probable prenatal rubella. (4105087)
1971
45
Endaural brain hernia (encephalocele). Diagnosis and treatment. (5450301)
1970
46
Encephalocele. (5368388)
1969
47
EHLERS-DANLOS SYNDROME ASSOCIATED WITH ACQUIRED ENCEPHALOCELE. (14288460)
1965
48
Intranasal encephalocele (14452527)
1961
49
A Case of Encephalocele: Removal: Hydrocephalus: Death. (20754704)
1894
50
II. Cases of Operation in Spina Bifida and Encephalocele. (17859817)
1892

Variations for Encephalocele

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Expression for genes affiliated with Encephalocele

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Search GEO for disease gene expression data for Encephalocele.

Pathways for genes affiliated with Encephalocele

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GO Terms for genes affiliated with Encephalocele

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

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:00059299.6NPHP3, RPGRIP1L, TMEM216
2ciliary membraneGO:00601709.4TCTN2, TCTN3, TMEM231, TMEM67
3ciliary basal bodyGO:00360649.2B9D1, B9D2, CEP290, MKS1, RPGRIP1L
4centrosomeGO:00058138.9B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
5ciliary transition zoneGO:00358698.8B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216
6MKS complexGO:00360388.4B9D1, B9D2, CC2D2A, CEP290, MKS1, TCTN2

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1regulation of smoothened signaling pathwayGO:000858910.4MKS1, RPGRIP1L
2motile primary cilium assemblyGO:190388710.4CC2D2A, MKS1
3regulation of Wnt signaling pathway, planar cell polarity pathwayGO:200009510.4MKS1, NPHP3
4embryonic brain developmentGO:199040310.3CC2D2A, MKS1
5establishment or maintenance of cell polarityGO:000716310.3NPHP3, RPGRIP1L
6nonmotile primary cilium assemblyGO:003505810.2CC2D2A, MKS1
7head developmentGO:006032210.1MKS1, RPGRIP1L
8limb morphogenesisGO:003510810.1ALX4, RPGRIP1L
9olfactory bulb developmentGO:00217729.9KIF14, RPGRIP1L
10camera-type eye developmentGO:00430109.8B9D1, CC2D2A, RPGRIP1L
11embryonic digit morphogenesisGO:00427339.6ALX4, B9D1, MKS1
12embryonic forelimb morphogenesisGO:00351159.2ALX3, ALX4, RPGRIP1L
13embryonic hindlimb morphogenesisGO:00351169.2ALX3, ALX4, RPGRIP1L
14determination of left/right symmetryGO:00073689.2CC2D2A, MKS1, NPHP3, RPGRIP1L
15smoothened signaling pathwayGO:00072249.0B9D1, CC2D2A, TCTN2, TCTN3, TMEM231
16cilium morphogenesisGO:00602718.0B9D1, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L
17cilium assemblyGO:00423847.9B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L

Sources for Encephalocele

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet