MCID: ENC008
MIFTS: 46

Encephalocele malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Encephalocele

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Aliases & Descriptions for Encephalocele:

Name: Encephalocele 45
Cranium Bifidum 45
Encephaloceles 46
 
Bifid Cranium 45
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 encephalocele anencephaly 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, liver and bone, and related mouse phenotypes are liver/biliary system and renal/urinary system.

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 165)
idRelated DiseaseScoreTop Affiliating Genes
1encephalocele anencephaly24.7ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
2frontal encephalocele12.2
3basal encephalocele12.2
4occipital encephalocele12.1
5parietal encephalocele12.1
6nasal encephalocele12.1
7isolated encephalocele12.0
8lethal occipital encephalocele-skeletal dysplasia syndrome11.8
9parietal foramina 111.6
10knobloch syndrome11.6
11dk phocomelia syndrome11.5
12knobloch syndrome, type 111.4
13meningoencephalocele11.2
14zechi ceide syndrome11.1
15brachial amelia, forebrain defects and facial clefts10.8
16corneal dystrophy, congenital stromal10.5CEP290, TMEM67
17neural tube defects10.5
18cranial meningocele10.4
19pancreatic agenesis10.4NPHP3, TMEM67
20frontonasal dysplasia 110.4
21acromelic frontonasal dysostosis10.3
22huntington disease-like 310.2CC2D2A, RPGRIP1L, TMEM67
23meckel syndrome 110.2
24associative agnosia10.2CC2D2A, TMEM216, TMEM231
25hydrocephalus10.2
26chronic gonococcal salpingitis10.2CEP290, NPHP3, TMEM67
27myelocystocele10.1COL18A1, CYP26B1, TCTN3
28isobutyryl-coa dehydrogenase deficiency10.1MKS1, TMEM216
29meningitis10.1
30frontonasal dysplasia 210.1
31morning glory syndrome10.1
32joubert syndrome with renal anomalies10.1CC2D2A, CEP290, TMEM216, TMEM231
33glioma10.1
34intermittent squint10.1CEP290, MKS1, RPGRIP1L, TMEM67
35meningocele10.0
36exophthalmos10.0
37cerebrospinal fluid leak10.0
38senior-loken syndrome-110.0CEP290, MKS1, NPHP3, TMEM216, TMEM67
39temporal lobe epilepsy10.0
40teratoma10.0
41meckel syndrome 310.0
42meckel syndrome 410.0
43meckel syndrome 810.0
44meckel syndrome 910.0
45craniofacial microsomia9.9B9D2, CC2D2A, RPGRIP1L, TMEM67
46microcephaly9.9
47cerebritis9.9
48anencephaly9.9
49hemangioma9.9
50mastoiditis9.9

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
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, Liver, Bone, Kidney, Prostate, Endothelial, Temporal lobe

Animal Models for Encephalocele or affiliated genes

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MGI Mouse Phenotypes related to Encephalocele:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:00053678.6B9D1, CC2D2A, CEP290, COL18A1, MKS1, NPHP3
3MP:00053887.9ALX3, ALX4, B9D2, CEP290, CYP26B1, MKS1
4MP:00053817.5ALX3, ALX4, B9D1, B9D2, CC2D2A, MKS1
5MP:00053856.6B9D1, CC2D2A, CEP290, COL18A1, CYP26B1, MKS1
6MP:00053806.3ALX3, ALX4, B9D1, CC2D2A, CYP26B1, MKS1
7MP:00053716.1ALX3, ALX4, B9D1, B9D2, CC2D2A, CYP26B1
8MP:00053906.0ALX3, ALX4, B9D1, CEP290, COL18A1, CYP26B1
9MP:00053845.9ALX3, B9D1, B9D2, CC2D2A, CEP290, COL18A1
10MP:00053915.5ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
11MP:00053785.5ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
12MP:00036315.2ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1
13MP:00107685.2ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
14MP:00053825.1ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290

Publications for Encephalocele

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Articles related to Encephalocele:

(show top 50)    (show all 669)
idTitleAuthorsYear
1
Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy. (27020612)
2016
2
Traumatic fronto-ethmoidal encephalocele: a rare case. (25745349)
2015
3
Combined transnasal and transoral endoscopic approach to a transsphenoidal encephalocele in an infant. (25712744)
2015
4
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. (25848158)
2015
5
Basal encephalocele in an adult patient presenting with minor anomalies: a case report. (24468320)
2014
6
Bilateral middle cranial fossa encephaloceles presenting as conductive hearing loss. (24366708)
2013
7
Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation. (24174773)
2013
8
Airway Management in an Infant with a Giant Occipital Encephalocele. (23788049)
2013
9
The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital--a three year experience. (23441515)
2013
10
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases. (21897680)
2011
11
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
12
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. (21358540)
2011
13
Reliability of preoperative assessment of cerebrospinal fluid pressure in the management of spontaneous cerebrospinal fluid leaks and encephaloceles. (22287374)
2011
14
Congenital duplication of the superior sagittal sinus and parietal encephalocele after vacuum extraction delivery. (19639246)
2010
15
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
16
Septo-optic dysplasia with encephalocele. (19766496)
2009
17
A non-midline spheno-orbital encephalocele in a newborn. (19191207)
2009
18
Spontaneous motor cortex encephalocele presenting with simple partial seizures and progressive hemiparesis. Case report and review of the literature. (16190600)
2005
19
Surgical closure and reconstruction of a large occipital encephalocele without parenchymal excision. (15351895)
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
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
Anterior encephalocele presenting as nasolacrimal obstruction. (3592469)
1986
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
Intranasal encephalocele (14452527)
1961
47
Intranasal (sphenopharyngeal) encephalocele; a report of a case with intracranial repair and a review of the subject. (18896818)
1947
48
A Case of Encephalocele: Removal: Hydrocephalus: Death. (20754704)
1894
49
II. Cases of Operation in Spina Bifida and Encephalocele. (17859817)
1892
50

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
1centrioleGO:000581410.1CEP290, MKS1
2ciliary transition zoneGO:00358699.9B9D2, CEP290, MKS1
3TCTN-B9D complexGO:00360388.4B9D1, B9D2, MKS1, TCTN2, TMEM216, TMEM231

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1embryonic brain developmentGO:199040310.4CC2D2A, MKS1
2olfactory bulb developmentGO:002177210.3KIF14, RPGRIP1L
3nonmotile primary cilium assemblyGO:003505810.3CC2D2A, MKS1
4camera-type eye developmentGO:004301010.3CC2D2A, RPGRIP1L
5limb morphogenesisGO:003510810.1ALX4, RPGRIP1L
6cilium assemblyGO:00423849.8B9D1, RPGRIP1L
7determination of left/right symmetryGO:00073689.7CC2D2A, MKS1, NPHP3, RPGRIP1L
8pattern specification processGO:00073899.2ALX3, ALX4
9embryonic forelimb morphogenesisGO:00351158.7ALX3, ALX4, RPGRIP1L
10cilium morphogenesisGO:00602718.6B9D1, CC2D2A, CEP290, MKS1, NPHP3, TCTN2
11organelle organizationGO:00069968.5B9D2, CC2D2A, NPHP3, RPGRIP1L, TCTN3, TMEM67

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