MCID: ENC008
MIFTS: 46

Encephalocele malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Encephalocele

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Aliases & Descriptions for Encephalocele:

Name: Encephalocele 45
Cranium Bifidum 45
Encephaloceles 46
Bifid Cranium 45
 
Cranioschisis 65
Cephalocele 45
Craniocele 45


Classifications:



External Ids:

ICD1027 Q01, Q01.9

Summaries for Encephalocele

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NINDS: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. 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 cranium bifidum, is related to coach syndrome and joubert syndrome with renal anomalies. 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 renal/urinary system and digestive/alimentary.

NIH Rare Diseases: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. 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:68 Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized... 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 213)
idRelated DiseaseScoreTop Affiliating Genes
1coach syndrome30.3CC2D2A, RPGRIP1L, TMEM67
2joubert syndrome with renal anomalies29.9CC2D2A, CEP290, RPGRIP1L, TMEM216, TMEM231, TMEM67
3meckel syndrome 729.9NPHP3, NPHP3-ACAD11
4parietal foramina 129.7ALX3, ALX4
5joubert syndrome 129.0B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
6encephalocele anencephaly26.7ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
7occipital encephalocele10.9
8basal encephalocele10.7
9frontal encephalocele10.6
10nasal encephalocele10.5
11isolated encephalocele10.4
12hydrocephalus10.4
13meningitis10.4
14parietal encephalocele10.4
15cranial meningocele10.4
16morning glory syndrome10.4
17meckel syndrome 110.4
18frontonasal dysplasia 310.3
19meningocele10.3
20exophthalmos10.3
21cerebrospinal fluid leak10.3
22neural tube defects10.3
23knobloch syndrome, type 110.3
24knobloch syndrome10.3
25teratoma10.3
26holoprosencephaly10.2
27temporal lobe epilepsy10.2
28cerebritis10.2
29microcephaly10.2
30dk phocomelia syndrome10.2
31zechi ceide syndrome10.2
32bardet-biedl syndrome 1410.2CEP290, TMEM67
33thanatophoric dysplasia, type ii10.2
34anencephaly10.2
35hemangioma10.2
36mastoiditis10.2
37meningoencephalocele10.2
38cerebrofacial arteriovenous metameric syndrome type 110.2CC2D2A, RPGRIP1L, TMEM67
39ophthalmoplegia - intellectual disability - lingua scrotalis10.1TCTN3, TMEM216
40fraser syndrome10.1
41meckel syndrome 310.1
42meckel syndrome 410.1
43meckel syndrome 810.1
44meckel syndrome 910.1
45thrombocytopenia10.1
46polydactyly10.1
47nasopharyngitis10.1
48myelomeningocele10.1
49bacterial meningitis10.1
50intracranial hypertension10.1

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
1UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
2Management Following Lumbar Puncture In ChildrenNot yet recruitingNCT02590718
3Optimization Lumbar Puncture In ChildrenWithdrawnNCT02454894

Search NIH Clinical Center for Encephalocele

Genetic Tests for Encephalocele

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Anatomical Context for Encephalocele

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MalaCards organs/tissues related to Encephalocele:

33
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:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7B9D1, CC2D2A, CEP290, COL18A1, MKS1, NPHP3
2MP:00053817.7ALX3, ALX4, B9D1, B9D2, CC2D2A, MKS1
3MP:00053887.6ALX3, ALX4, B9D2, CEP290, CYP26B1, MKS1
4MP:00053857.5B9D1, CC2D2A, CEP290, COL18A1, MKS1, NPHP3
5MP:00053847.1ALX3, B9D2, CC2D2A, CEP290, CYP26B1, KIF14
6MP:00053906.5ALX3, ALX4, B9D1, CEP290, COL18A1, CYP26B1
7MP:00053716.3ALX3, ALX4, B9D1, B9D2, CC2D2A, CYP26B1
8MP:00053806.2ALX3, ALX4, B9D1, CC2D2A, CYP26B1, MKS1
9MP:00053915.8ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
10MP:00053785.6ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
11MP:00107685.5ALX3, ALX4, B9D1, B9D2, CC2D2A, CYP26B1
12MP:00053825.4ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
13MP:00036315.4ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1

Publications for Encephalocele

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Articles related to Encephalocele:

(show top 50)    (show all 645)
idTitleAuthorsYear
1
Traumatic fronto-ethmoidal encephalocele: a rare case. (25745349)
2015
2
Combined transnasal and transoral endoscopic approach to a transsphenoidal encephalocele in an infant. (25712744)
2015
3
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. (25848158)
2015
4
Basal encephalocele in an adult patient presenting with minor anomalies: a case report. (24468320)
2014
5
Bilateral middle cranial fossa encephaloceles presenting as conductive hearing loss. (24366708)
2013
6
Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation. (24174773)
2013
7
Airway Management in an Infant with a Giant Occipital Encephalocele. (23788049)
2013
8
The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital--a three year experience. (23441515)
2013
9
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases. (21897680)
2011
10
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
11
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. (21358540)
2011
12
Reliability of preoperative assessment of cerebrospinal fluid pressure in the management of spontaneous cerebrospinal fluid leaks and encephaloceles. (22287374)
2011
13
Congenital duplication of the superior sagittal sinus and parietal encephalocele after vacuum extraction delivery. (19639246)
2010
14
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
15
Septo-optic dysplasia with encephalocele. (19766496)
2009
16
A non-midline spheno-orbital encephalocele in a newborn. (19191207)
2009
17
Spontaneous motor cortex encephalocele presenting with simple partial seizures and progressive hemiparesis. Case report and review of the literature. (16190600)
2005
18
Surgical closure and reconstruction of a large occipital encephalocele without parenchymal excision. (15351895)
2005
19
Transnasal endoscopic repair of cerebrospinal fluid fistulas and encephaloceles: surgical indications and complications. (16015496)
2005
20
Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. (12541087)
2003
21
Intrasphenoidal transsellar encephalocele repaired by endoscopic approach. (14587981)
2003
22
Temporal lobe encephalocele appearing as a lytic lesion of the skull base and pterygoid process. (12735159)
2003
23
Craniofacial surgery for giant frontonasal encephalocele in a neonate. (12383426)
2002
24
Spontaneous resolution of a sphenoid sinus encephalocele. Case illustration. (10701545)
2000
25
Glial lesion of the infratemporal fossa presenting as a soft tissue middle ear mass - rudimentary encephalocele or neural crest remnant? (11115687)
2000
26
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. (10517481)
1999
27
Craniofacial reconstruction of a giant cystlike temporal encephalocele. (10726514)
1999
28
Imaging quiz case 1. Tegmental encephalocele. (9821934)
1998
29
Intrathecal morphine for postoperative analgesia following repair of frontal encephaloceles in children: comparison with intermittent, on-demand dosing of nalbuphine. (9195349)
1997
30
Long-term outcome in surgically treated encephalocele. (8362349)
1993
31
Endaural encephalocele. (1589224)
1992
32
Transalar sphenoidal encephalocele. Uncommon clinical and radiological findings. (1999078)
1991
33
Developmental anterobasal temporal encephalocele and temporal lobe epilepsy. (2033453)
1991
34
Morphological evaluation for neuronal maturation in anencephaly and encephalocele in human neonates. A proposal of reclassification of cephalic dysraphism. (2257550)
1990
35
A case of temporal encephalocele. (2383870)
1990
36
Lateral frontal encephalocele associated with dysplasia of orbit, eyeball, and eyelid. (2311117)
1990
37
Basal transsphenoidal encephalocele: MR findings. (2505585)
1989
38
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
39
Anterior encephalocele presenting as nasolacrimal obstruction. (3592469)
1986
40
Basal encephalocele presenting with monocular visual loss. (6233316)
1984
41
The role of sonography in the prenatal diagnosis and management of encephalocele. (6152935)
1982
42
Nontraumatic frontal encephalocele. (7227254)
1980
43
Sphenoid encephalocele. Report of a case. (836247)
1977
44
Occipital encephaloceles with and without visual evoked potentials. (4816837)
1974
45
Endaural brain hernia (encephalocele). Diagnosis and treatment. (5450301)
1970
46
Intranasal encephaloceles. A survey of 8 neurosurgically treated cases. (5766704)
1969
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 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
1ciliary membraneGO:006017010.0TCTN2, TCTN3, TMEM231, TMEM67
2ciliary basal bodyGO:00360649.7B9D1, B9D2, MKS1, RPGRIP1L
3ciliumGO:00059299.1NPHP3, NPHP3-ACAD11, RPGRIP1L, TMEM216
4centrosomeGO:00058139.1B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
5ciliary transition zoneGO:00358698.8B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
6TCTN-B9D complexGO:00360388.5B9D1, B9D2, CC2D2A, CEP290, MKS1, TCTN2
7cytosolGO:00058297.3B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1head developmentGO:006032210.6MKS1, RPGRIP1L
2regulation of smoothened signaling pathwayGO:000858910.6MKS1, RPGRIP1L
3nonmotile primary cilium assemblyGO:003505810.4CEP290, MKS1
4atrial septum developmentGO:000328310.1NPHP3, NPHP3-ACAD11
5maintenance of organ identityGO:004849610.1NPHP3, NPHP3-ACAD11
6convergent extension involved in gastrulationGO:006002710.1NPHP3, NPHP3-ACAD11
7determination of intestine left/right asymmetryGO:007190810.1NPHP3, NPHP3-ACAD11
8determination of stomach left/right asymmetryGO:007190910.1NPHP3, NPHP3-ACAD11
9regulation of planar cell polarity pathway involved in neural tube closureGO:200016710.1NPHP3, NPHP3-ACAD11
10ureter developmentGO:007218910.1NPHP3, NPHP3-ACAD11
11kidney morphogenesisGO:006099310.0NPHP3, NPHP3-ACAD11
12establishment or maintenance of cell polarityGO:000716310.0CEP290, NPHP3, RPGRIP1L
13olfactory bulb developmentGO:002177210.0KIF14, RPGRIP1L
14determination of pancreatic left/right asymmetryGO:003546910.0NPHP3, NPHP3-ACAD11
15epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.0NPHP3, NPHP3-ACAD11
16determination of liver left/right asymmetryGO:007191010.0NPHP3, NPHP3-ACAD11
17regulation of Wnt signaling pathway, planar cell polarity pathwayGO:20000959.9MKS1, NPHP3, NPHP3-ACAD11
18regulation of cAMP metabolic processGO:00308149.8CEP290, NPHP3
19embryonic digit morphogenesisGO:00427339.6ALX4, B9D1, MKS1
20smoothened signaling pathwayGO:00072249.5B9D1, CC2D2A, TCTN2, TCTN3, TMEM231
21photoreceptor cell maintenanceGO:00454949.5CEP290, NPHP3, NPHP3-ACAD11
22limb morphogenesisGO:00351089.4ALX4, RPGRIP1L
23embryonic forelimb morphogenesisGO:00351159.4ALX3, ALX4, RPGRIP1L
24kidney developmentGO:00018229.3NPHP3, NPHP3-ACAD11, RPGRIP1L
25embryonic hindlimb morphogenesisGO:00351169.2ALX3, ALX4, RPGRIP1L
26determination of left/right symmetryGO:00073688.5MKS1, NPHP3, NPHP3-ACAD11, RPGRIP1L, TGIF1
27cilium assemblyGO:00423848.0B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
28cilium morphogenesisGO:00602717.6B9D1, CC2D2A, CEP290, MKS1, NPHP3, NPHP3-ACAD11
29organelle organizationGO:00069966.9B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3

Sources for Encephalocele

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet