MCID: ENC008
MIFTS: 54

Encephalocele malady

Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Encephalocele

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NINDS:43 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 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: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. 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:65 Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized... more...

Aliases & Classifications for Encephalocele

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Encephalocele, Aliases & Descriptions:

Name: Encephalocele 42
Cranium Bifidum 42 62
Encephaloceles 43
 
Bifid Cranium 42
Cephalocele 42
Craniocele 42


Classifications:

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


External Ids:

ICD1025 Q01, Q01.9

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/GeneDecks gene sharing:

(show top 50)    (show all 176)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 230.4TMEM216
2bardet-biedl syndrome29.7CEP290, MKS1
3coach syndrome29.4RPGRIP1L, CC2D2A, TMEM67
4joubert syndrome29.3TMEM67, CEP290, CC2D2A, RPGRIP1L
5polydactyly28.9ALX4, ALX3, CC2D2A, CEP290, TMEM216, TMEM67
6occipital encephalocele10.8
7basal encephalocele10.6
8frontal encephalocele10.5
9enlarged parietal foramina10.5
10nasal encephalocele10.5
11parietal foramina 110.4
12isolated encephalocele10.4
13hydrocephalus10.4
14meningitis10.4
15parietal encephalocele10.4
16cranial meningocele10.4
17meningocele10.3
18spina bifida10.3
19meckel syndrome10.3
20frontonasal dysplasia 110.3
21cerebrospinal fluid leak10.2
22teratoma10.2
23bardet-biedl syndrome 1410.2CEP290
24neural tube defects10.2
25exophthalmos10.2
26microcephaly10.2
27cerebritis10.2
28frontonasal dysplasia10.2
29zechi ceide syndrome10.2
30anencephaly10.2
31hemangioma10.2
32temporal lobe epilepsy10.2
33dk phocomelia syndrome10.2
34knobloch syndrome10.2
35meningoencephalocele10.2
36myelomeningocele10.2
37holoprosencephaly10.1
38thrombocytopenia10.1
39dandy-walker syndrome10.1
40thanatophoric dysplasia10.1
41nasopharyngitis10.1
42bacterial meningitis10.1
43laryngitis10.1
44agenesis of the corpus callosum10.1
45septo-optic dysplasia10.1
46subependymal nodular heterotopia10.1
47knobloch syndrome type i10.1
48meckel syndrome 110.1
49arteriosclerosis10.1MTHFR, TGIF1
50usher 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:

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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:

32
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:

36 (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 621)
idTitleAuthorsYear
1
Basal encephalocele in an adult patient presenting with minor anomalies: a case report. (24468320)
2014
2
Bilateral middle cranial fossa encephaloceles presenting as conductive hearing loss. (24366708)
2013
3
Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation. (24174773)
2013
4
Airway Management in an Infant with a Giant Occipital Encephalocele. (23788049)
2013
5
The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital--a three year experience. (23441515)
2013
6
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases. (21897680)
2011
7
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
8
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. (21358540)
2011
9
Reliability of preoperative assessment of cerebrospinal fluid pressure in the management of spontaneous cerebrospinal fluid leaks and encephaloceles. (22287374)
2011
10
Congenital duplication of the superior sagittal sinus and parietal encephalocele after vacuum extraction delivery. (19639246)
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
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
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 Encephalocele

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Expression for genes affiliated with Encephalocele

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Expression patterns in normal tissues for genes affiliated with Encephalocele

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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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary transition zoneGO:0358699.4CC2D2A, B9D1
2cytoskeletonGO:0058569.1CC2D2A, TCTN2, TMEM216
3ciliary basal bodyGO:0360648.8B9D1, B9D2, MKS1, RPGRIP1L
4ciliumGO:0059298.8TMEM216, RPGRIP1L, NPHP3
5centrosomeGO:0058137.8B9D1, B9D2, MKS1, TMEM67, CEP290, RPGRIP1L
6TCTN-B9D complexGO:0360387.4CC2D2A, B9D1, B9D2, MKS1, TMEM67, TMEM216

Biological processes related to Encephalocele according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1embryonic skeletal system morphogenesisGO:04870410.0ALX4, ALX3
2negative regulation of retinoic acid receptor signaling pathwayGO:0483879.9TGIF1, CYP26B1
3regulation of cAMP metabolic processGO:0308149.8NPHP3, CEP290
4embryonic digit morphogenesisGO:0427339.8ALX4, B9D1
5response to drugGO:0424939.5COL18A1, MTHFR, TGIF1
6embryonic hindlimb morphogenesisGO:0351169.4ALX4, ALX3, RPGRIP1L
7embryonic forelimb morphogenesisGO:0351159.4RPGRIP1L, ALX3, ALX4
8retina development in camera-type eyeGO:0600419.4TGIF1, CEP290
9camera-type eye developmentGO:0430109.4B9D1, RPGRIP1L
10determination of left/right symmetryGO:0073689.3NPHP3, RPGRIP1L, TGIF1
11smoothened signaling pathwayGO:0072249.2B9D1, TCTN2, CC2D2A
12establishment or maintenance of cell polarityGO:0071639.1CEP290, RPGRIP1L, NPHP3
13cilium morphogenesisGO:0602717.5B9D1, MKS1, TMEM67, TMEM216, TCTN2, CEP290
14cilium assemblyGO:0423846.7RPGRIP1L, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet