MCID: ENC017
MIFTS: 42

Encephaloceles malady

Summaries for Encephaloceles

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45NINDS, 34MalaCards
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NINDS:45 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: Encephaloceles is related to joubert syndrome and joubert syndrome 2. An important gene associated with Encephaloceles is ALX3 (ALX homeobox 3). Affiliated tissues include brain, bone and temporal lobe, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Aliases & Classifications for Encephaloceles

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45NINDS
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Aliases & Descriptions:

encephaloceles 45


Related Diseases for Encephaloceles

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Encephaloceles:



Diseases related to encephaloceles

Symptoms for Encephaloceles

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Drugs & Therapeutics for Encephaloceles

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Encephaloceles

Search NIH Clinical Center for Encephaloceles

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Genetic Tests for Encephaloceles

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Anatomical Context for Encephaloceles

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34MalaCards
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MalaCards organs/tissues related to Encephaloceles:

34
Brain, Bone, Temporal lobe, Pituitary, Kidney, Cerebellum, Eye, Skin, Placenta, Pineal, Heart, Cortex, Lung, Colon

Animal Models for Encephaloceles or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Encephaloceles:

38 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8B9D1, B9D2, MKS1, TMEM67, RPGRIP1L
2MP:00053798.6B9D1, CYP26B1, ALX3, MKS1, RPGRIP1L
3MP:00107718.5MTHFR, ALX4, B9D1, CYP26B1, RPGRIP1L
4MP:00053888.2CYP26B1, CEP290, RPGRIP1L, MKS1, ALX3, ALX4
5MP:00053818.2ALX3, CC2D2A, TCTN2, B9D2, B9D1, ALX4
6MP:00053898.0MTHFR, TGIF1, MKS1, CEP290, CYP26B1, ALX3
7MP:00053677.3CEP290, B9D1, NPHP3, MKS1, TMEM67, RPGRIP1L
8MP:00053847.1ALX3, B9D2, CYP26B1, MKS1, TGIF1, TMEM67
9MP:00053806.8B9D1, RPGRIP1L, CC2D2A, TCTN2, TMEM67, TGIF1
10MP:00053766.7MKS1, TGIF1, MTHFR, CYP26B1, COL18A1, B9D2
11MP:00053856.4B9D1, NPHP3, COL18A1, RPGRIP1L, CC2D2A, CEP290
12MP:00053716.4TGIF1, MKS1, CYP26B1, B9D2, B9D1, TCTN2
13MP:00107686.4TMEM67, CC2D2A, MTHFR, ALX3, NPHP3, ALX4
14MP:00053916.1B9D1, CYP26B1, TCTN2, CEP290, CC2D2A, MTHFR
15MP:00053785.9B9D1, B9D2, MKS1, TGIF1, ALX4, ALX3
16MP:00053905.8CYP26B1, MKS1, TGIF1, TMEM67, ALX4, CEP290
17MP:00053825.4CYP26B1, ALX4, NPHP3, TMEM67, TCTN2, TGIF1
18MP:00036315.3CC2D2A, TCTN2, B9D1, TMEM67, TGIF1, MKS1

Publications for Encephaloceles

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53PubMed
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Articles related to Encephaloceles:

(show top 50)    (show all 588)
idTitleAuthorsYear
1
Bilateral middle cranial fossa encephaloceles presenting as conductive hearing loss. (24366708)
2013
2
Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation. (24174773)
2013
3
Airway Management in an Infant with a Giant Occipital Encephalocele. (23788049)
2013
4
The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital--a three year experience. (23441515)
2013
5
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases. (21897680)
2011
6
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
7
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. (21358540)
2011
8
Reliability of preoperative assessment of cerebrospinal fluid pressure in the management of spontaneous cerebrospinal fluid leaks and encephaloceles. (22287374)
2011
9
Congenital duplication of the superior sagittal sinus and parietal encephalocele after vacuum extraction delivery. (19639246)
2010
10
Giant encephalocele. (20121534)
2010
11
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
12
Septo-optic dysplasia with encephalocele. (19766496)
2009
13
A non-midline spheno-orbital encephalocele in a newborn. (19191207)
2009
14
Endoscopic surgery for nasal glioma mimicking encephalocele in infancy. (19412410)
2008
15
Spontaneous motor cortex encephalocele presenting with simple partial seizures and progressive hemiparesis. Case report and review of the literature. (16190600)
2005
16
Surgical closure and reconstruction of a large occipital encephalocele without parenchymal excision. (15351895)
2005
17
Transnasal endoscopic repair of cerebrospinal fluid fistulas and encephaloceles: surgical indications and complications. (16015496)
2005
18
Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. (12541087)
2003
19
Intrasphenoidal transsellar encephalocele repaired by endoscopic approach. (14587981)
2003
20
Temporal lobe encephalocele appearing as a lytic lesion of the skull base and pterygoid process. (12735159)
2003
21
Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen. (12605444)
2003
22
Craniofacial surgery for giant frontonasal encephalocele in a neonate. (12383426)
2002
23
Spontaneous resolution of a sphenoid sinus encephalocele. Case illustration. (10701545)
2000
24
Glial lesion of the infratemporal fossa presenting as a soft tissue middle ear mass - rudimentary encephalocele or neural crest remnant? (11115687)
2000
25
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. (10517481)
1999
26
Craniofacial reconstruction of a giant cystlike temporal encephalocele. (10726514)
1999
27
Imaging quiz case 1. Tegmental encephalocele. (9821934)
1998
28
Intrathecal morphine for postoperative analgesia following repair of frontal encephaloceles in children: comparison with intermittent, on-demand dosing of nalbuphine. (9195349)
1997
29
Long-term outcome in surgically treated encephalocele. (8362349)
1993
30
Endaural encephalocele. (1589224)
1992
31
Transalar sphenoidal encephalocele. Uncommon clinical and radiological findings. (1999078)
1991
32
Developmental anterobasal temporal encephalocele and temporal lobe epilepsy. (2033453)
1991
33
Morphological evaluation for neuronal maturation in anencephaly and encephalocele in human neonates. A proposal of reclassification of cephalic dysraphism. (2257550)
1990
34
A case of temporal encephalocele. (2383870)
1990
35
Lateral frontal encephalocele associated with dysplasia of orbit, eyeball, and eyelid. (2311117)
1990
36
Basal transsphenoidal encephalocele: MR findings. (2505585)
1989
37
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
38
Intrasphenoidal encephaloceles--a clinical entity. (3324649)
1987
39
Basal encephalocele presenting with monocular visual loss. (6233316)
1984
40
The role of sonography in the prenatal diagnosis and management of encephalocele. (6152935)
1982
41
Nontraumatic frontal encephalocele. (7227254)
1980
42
Sphenoid encephalocele. Report of a case. (836247)
1977
43
Occipital encephaloceles with and without visual evoked potentials. (4816837)
1974
44
Endaural brain hernia (encephalocele). Diagnosis and treatment. (5450301)
1970
45
Intranasal encephaloceles. A survey of 8 neurosurgically treated cases. (5766704)
1969
46
EHLERS-DANLOS SYNDROME ASSOCIATED WITH ACQUIRED ENCEPHALOCELE. (14288460)
1965
47
Intranasal encephalocele (14452527)
1961
48
Intranasal (sphenopharyngeal) encephalocele; a report of a case with intracranial repair and a review of the subject. (18896818)
1947
49
A Case of Encephalocele: Removal: Hydrocephalus: Death. (20754704)
1894
50
II. Cases of Operation in Spina Bifida and Encephalocele. (17859817)
1892

Variations for Encephaloceles

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Expression for genes affiliated with Encephaloceles

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Encephaloceles

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Pathways for genes affiliated with Encephaloceles

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Compounds for genes affiliated with Encephaloceles

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GO Terms for genes affiliated with Encephaloceles

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17Gene Ontology
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Cellular components related to Encephaloceles according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary transition zoneGO:0358699.7CC2D2A, B9D1
2cytoskeletonGO:0058569.5CC2D2A, TCTN2, TMEM216
3ciliary basal bodyGO:0360649.2B9D1, B9D2, MKS1, RPGRIP1L
4ciliumGO:0059299.2TMEM216, RPGRIP1L, NPHP3
5centrosomeGO:0058138.3B9D1, B9D2, MKS1, TMEM67, CEP290, RPGRIP1L
6TCTN-B9D complexGO:0360388.0CC2D2A, B9D1, B9D2, MKS1, TMEM67, TMEM216

Biological processes related to Encephaloceles according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of cAMP metabolic processGO:0308149.9NPHP3, CEP290
2embryonic skeletal system morphogenesisGO:0487049.9ALX4, ALX3
3embryonic digit morphogenesisGO:0427339.7ALX4, B9D1
4camera-type eye developmentGO:0430109.7B9D1, RPGRIP1L
5negative regulation of retinoic acid receptor signaling pathwayGO:0483879.7TGIF1, CYP26B1
6smoothened signaling pathwayGO:0072249.6B9D1, TCTN2, CC2D2A
7embryonic hindlimb morphogenesisGO:0351169.6ALX4, ALX3, RPGRIP1L
8embryonic forelimb morphogenesisGO:0351159.6RPGRIP1L, ALX3, ALX4
9establishment or maintenance of cell polarityGO:0071639.5CEP290, RPGRIP1L, NPHP3
10determination of left/right symmetryGO:0073689.3NPHP3, RPGRIP1L, TGIF1
11retina development in camera-type eyeGO:0600419.1TGIF1, CEP290
12response to drugGO:0424938.5COL18A1, MTHFR, TGIF1
13cilium morphogenesisGO:0602718.1B9D1, MKS1, TMEM67, TMEM216, TCTN2, CEP290
14cilium assemblyGO:0423847.6RPGRIP1L, B9D1, CC2D2A, CEP290, TCTN2, TMEM216

Products for genes affiliated with Encephaloceles

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Sources for Encephaloceles

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet