MCID: ENC008
MIFTS: 34

Encephalocele malady

Neuronal diseases category

Summaries for Encephalocele

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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

MalaCards: Encephalocele, also known as cranium bifidum, is related to occipital encephalocele and knobloch syndrome. An important gene associated with Encephalocele is COL18A1 (collagen, type XVIII, alpha 1). Affiliated tissues include brain, and related mouse phenotypes are respiratory system and digestive/alimentary.

Wikipedia:63 Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized... more...

Aliases & Classifications for Encephalocele

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42NIH Rare Diseases, 25ICD10
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Classifications:

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Anatomical: Neuronal diseases


Aliases & Descriptions:

encephalocele 42
cranium bifidum 42
bifid cranium 42
cephalocele 42
craniocele 42


External Ids:

ICD1025 Q01, Q01.9

Related Diseases for Encephalocele

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17GeneCards, 18GeneDecks
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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 157)
idRelated DiseaseScoreTop Affiliating Genes
1occipital encephalocele30.3COL18A1
2knobloch syndrome30.0COL18A1
3polydactyly30.0CC2D2A, B9D2, B9D1, MKS1, TCTN3, TMEM216
4hypertension29.9MTHFR
5joubert syndrome29.9RPGRIP1L, CC2D2A, TMEM67, CEP290
6joubert syndrome 229.7TMEM216
7bardet-biedl syndrome29.7CEP290, MKS1
8coach syndrome29.7RPGRIP1L, CC2D2A, TMEM67
9enlarged parietal foramina10.4
10hydrocephalus10.3
11encephaloceles10.3
12cranial meningocele10.3
13meningitis10.3
14meningocele10.3
15frontal encephalocele10.3
16meckel syndrome10.2
17spina bifida10.2
18frontonasal dysplasia 110.2
19parietal foramina 110.2
20dandy-walker syndrome10.2
21cerebritis10.2
22exophthalmos10.2
23microcephaly10.2
24parietal encephalocele10.2
25zechi ceide syndrome10.1
26temporal lobe epilepsy10.1
27hemangioma10.1
28meningoencephalocele10.1
29nasal encephalocele10.1
30basal encephalocele10.1
31thanatophoric dysplasia10.0
32cleft palate10.0
33nasopharyngitis10.0
34holoprosencephaly10.0
35bacterial meningitis10.0
36laryngitis10.0
37mature teratoma10.0
38thrombocytopenia10.0
39dk phocomelia syndrome10.0
40knobloch syndrome type i10.0
41meckel syndrome 110.0
42usher syndrome10.0
43atelosteogenesis10.0
44apraxia10.0TMEM216
45leber congenital amaurosis10.0CEP290
46mental retardation10.0TGIF1, POMT1
47asphyxiating thoracic dystrophy10.0CC2D2A
48retinal degeneration10.0CEP290
49intellectual disability10.0POMT1
50fundus dystrophy10.0CC2D2A, CEP290

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to encephalocele

Clinical Features for Encephalocele

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Drugs & Therapeutics for Encephalocele

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Encephalocele

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Anatomical Context for Encephalocele

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32MalaCards
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MalaCards organs/tissues related to Encephalocele:

32
Brain

Animal Models for Encephalocele or affiliated genes

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36MGI
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Publications for Encephalocele

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Genetic Variations for Encephalocele

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Expression for genes affiliated with Encephalocele

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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16Gene Ontology
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Cellular components related to Encephalocele according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.5TMEM216, NPHP3, RPGRIP1L
2cilium axonemeGO:0350859.4RPGRIP1L, B9D2, B9D1
3ciliary transition zoneGO:0358699.4B9D1, CC2D2A
4centrosomeGO:0058138.5RPGRIP1L, B9D2, B9D1, MKS1, TMEM67, CEP290
5TCTN-B9D complexGO:0360387.9CC2D2A, B9D2, B9D1, MKS1, TCTN2, TMEM216
6microtubule basal bodyGO:0059327.5CEP290, RPGRIP1L, TMEM67, TMEM216, TCTN2, MKS1

Biological processes related to Encephalocele according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of cAMP metabolic processGO:0308149.9CEP290, NPHP3
2embryonic hindlimb morphogenesisGO:0351169.6ALX3, ALX4, RPGRIP1L
3embryonic forelimb morphogenesisGO:0351159.5RPGRIP1L, ALX4, ALX3
4establishment or maintenance of cell polarityGO:0071639.5CEP290, NPHP3, RPGRIP1L
5determination of left/right symmetryGO:0073689.3TGIF1, NPHP3, RPGRIP1L
6smoothened signaling pathwayGO:0072249.2CC2D2A, B9D1, TCTN2, TCTN3
7cilium morphogenesisGO:0602717.8CC2D2A, B9D1, NPHP3, MKS1, TCTN2, TCTN3
8cilium assemblyGO:0423847.5CEP290, RPGRIP1L, TMEM67, TMEM216, TCTN2, MKS1

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet