MCID: ENC008
MIFTS: 49

Encephalocele malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Encephalocele

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Sources:
41NIH Rare Diseases, 42NINDS, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Encephalocele, Aliases & Descriptions:

Name: Encephalocele 41
Isolated Encephalocele 41 47
Cranial Meningocele 41 47
Cranium Bifidum 41
Encephaloceles 42
 
Cranioschisis 60
Bifid Cranium 41
Cephalocele 41
Craniocele 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


External Ids:

Orphanet47 199647, 268820
MESH via Orphanet34 D004677
ICD10 via Orphanet26 Q01.0, Q01.1, Q01.2 Q01.8, Q01.9, more
UMLS via Orphanet61 C0009694
ICD1025 Q01, Q01.9

Summaries for Encephalocele

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NINDS:42 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 isolated encephalocele, is related to joubert syndrome 2 and bardet-biedl syndrome. An important gene associated with Encephalocele is COL18A1 (collagen, type XVIII, alpha 1). Affiliated tissues include brain, bone and temporal lobe, and related mouse phenotypes are liver/biliary system and integument.

NIH Rare Diseases:41 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:63 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:

Basal Encephalocele

Diseases related to Encephalocele via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 192)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 230.3TMEM216
2bardet-biedl syndrome29.8MKS1, CEP290
3coach syndrome29.7TMEM67, RPGRIP1L, CC2D2A
4joubert syndrome 129.3TMEM67, CEP290, CC2D2A, RPGRIP1L
5polydactyly28.9B9D1, ALX4, ALX3, CC2D2A, CEP290, TMEM216
6occipital encephalocele10.8
7basal encephalocele10.6
8nasal encephalocele10.5
9hydrocephalus10.4
10meningitis10.4
11parietal encephalocele10.4
12herpes simplex encephalitis10.4
13meckel syndrome 110.3
14meningocele10.3
15knobloch syndrome10.3
16morning glory syndrome10.3
17zechi ceide syndrome10.3
18exophthalmos10.2
19cerebrospinal fluid leak10.2
20dk phocomelia syndrome10.2
21teratoma10.2
22bardet-biedl syndrome 1410.2CEP290
23neural tube defects10.2
24holoprosencephaly10.2
25cerebritis10.2
26thanatophoric dysplasia, type ii10.2
27anencephaly10.2
28hemangioma10.2
29temporal lobe epilepsy10.2
30microcephaly10.2
31meningoencephalocele10.2
32myelomeningocele10.2
33acromelic frontonasal dysostosis10.1
34vacterl association10.1
35thrombocytopenia10.1
36nasopharyngitis10.1
37bacterial meningitis10.1
38laryngitis10.1
39agenesis of the corpus callosum10.1
40craniotelencephalic dysplasia10.1
41dandy-walker complex10.1
42encephalocele anencephaly10.1
43iniencephaly10.1
44subependymal nodular heterotopia10.1
45lethal occipital encephalocele-skeletal dysplasia syndrome10.1
46usher syndrome10.0
47atelosteogenesis10.0
48frontonasal dysplasia 110.0
49schizencephaly10.0
50dandy-walker syndrome10.0

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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Drug clinical trials:

Search ClinicalTrials for Encephalocele

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:

31
Brain, Bone, Temporal lobe, Pituitary, Cerebellum, Kidney, Eye, Skin, Cortex, Heart, Colon, Lung, Placenta, Pineal

Animal Models for Encephalocele or affiliated genes

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MGI Mouse Phenotypes related to Encephalocele:

35 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3B9D1, B9D2, MKS1, TMEM67, RPGRIP1L
2MP:00107718.1ALX4, RPGRIP1L, MTHFR, CYP26B1, B9D1
3MP:00053898.1CYP26B1, MKS1, TGIF1, CEP290, MTHFR, ALX3
4MP:00053798.0B9D1, CYP26B1, MKS1, RPGRIP1L, ALX3
5MP:00053817.8B9D1, B9D2, MKS1, TMEM67, TCTN2, CC2D2A
6MP:00053887.8B9D2, CYP26B1, MKS1, CEP290, RPGRIP1L, ALX3
7MP:00053677.2B9D1, MKS1, TMEM67, CEP290, CC2D2A, RPGRIP1L
8MP:00053767.1B9D1, B9D2, CYP26B1, MKS1, TGIF1, CC2D2A
9MP:00053846.7B9D2, CYP26B1, MKS1, TGIF1, TMEM67, CEP290
10MP:00053856.5B9D1, MKS1, TGIF1, TMEM67, TCTN2, CEP290
11MP:00053806.4B9D1, CYP26B1, MKS1, TGIF1, TMEM67, TCTN2
12MP:00053906.2TMEM67, TGIF1, MKS1, CYP26B1, B9D1, CEP290
13MP:00107686.0TGIF1, MKS1, CYP26B1, B9D2, B9D1, TMEM67
14MP:00053715.9B9D1, ALX4, ALX3, RPGRIP1L, MTHFR, CC2D2A
15MP:00053915.8TCTN2, MKS1, CYP26B1, B9D2, B9D1, CEP290
16MP:00036315.5TCTN2, TMEM67, TGIF1, MKS1, B9D1, CEP290
17MP:00053785.5TMEM67, TGIF1, MKS1, B9D2, B9D1, TCTN2
18MP:00053825.4B9D1, B9D2, NPHP3, ALX4, ALX3, COL18A1

Publications for Encephalocele

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Articles related to Encephalocele:

(show top 50)    (show all 624)
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
Transnasal endoscopic repair of cerebrospinal fluid fistulas and encephaloceles: surgical indications and complications. (16015496)
2005
19
Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. (12541087)
2003
20
Intrasphenoidal transsellar encephalocele repaired by endoscopic approach. (14587981)
2003
21
Temporal lobe encephalocele appearing as a lytic lesion of the skull base and pterygoid process. (12735159)
2003
22
Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen. (12605444)
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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Compounds 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 transition zoneGO:00358699.4CC2D2A, B9D1
2cytoskeletonGO:00058569.1CC2D2A, TCTN2, TMEM216
3ciliary basal bodyGO:00360648.8B9D1, B9D2, MKS1, RPGRIP1L
4ciliumGO:00059298.8TMEM216, RPGRIP1L, NPHP3
5centrosomeGO:00058137.8B9D1, B9D2, MKS1, TMEM67, CEP290, RPGRIP1L
6TCTN-B9D complexGO:00360387.4CC2D2A, B9D1, B9D2, MKS1, TMEM67, TMEM216

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1embryonic skeletal system morphogenesisGO:004870410.0ALX4, ALX3
2negative regulation of retinoic acid receptor signaling pathwayGO:00483879.9TGIF1, CYP26B1
3regulation of cAMP metabolic processGO:00308149.8NPHP3, CEP290
4embryonic digit morphogenesisGO:00427339.8ALX4, B9D1
5response to drugGO:00424939.5COL18A1, MTHFR, TGIF1
6embryonic hindlimb morphogenesisGO:00351169.4ALX4, ALX3, RPGRIP1L
7embryonic forelimb morphogenesisGO:00351159.4RPGRIP1L, ALX3, ALX4
8retina development in camera-type eyeGO:00600419.4TGIF1, CEP290
9camera-type eye developmentGO:00430109.4B9D1, RPGRIP1L
10determination of left/right symmetryGO:00073689.3NPHP3, RPGRIP1L, TGIF1
11smoothened signaling pathwayGO:00072249.2B9D1, TCTN2, CC2D2A
12establishment or maintenance of cell polarityGO:00071639.1CEP290, RPGRIP1L, NPHP3
13cilium morphogenesisGO:00602717.5B9D1, MKS1, TMEM67, TMEM216, TCTN2, CEP290
14cilium assemblyGO:00423846.7RPGRIP1L, B9D1, CC2D2A, CEP290, TCTN2, TMEM216

Products for genes affiliated with Encephalocele

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Sources for Encephalocele

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet