MCID: ENC017
MIFTS: 26

Encephaloceles malady

Summaries for Encephaloceles

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43NINDS, 32MalaCards
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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: Encephaloceles is related to occipital encephalocele and knobloch syndrome. An important gene associated with Encephaloceles is COL18A1 (collagen, type XVIII, alpha 1). Affiliated tissues include brain, and related mouse phenotypes are respiratory system and digestive/alimentary.

Aliases & Classifications for Encephaloceles

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43NINDS
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Aliases & Descriptions:

encephaloceles 43


Related Diseases for Encephaloceles

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17GeneCards, 18GeneDecks
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Diseases related to Encephaloceles via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1occipital encephalocele30.3COL18A1
2knobloch syndrome30.0COL18A1
3polydactyly30.0MKS1, TCTN3, TMEM216, TMEM67, CEP290, ALX4
4hypertension29.9MTHFR
5joubert syndrome29.9RPGRIP1L, CC2D2A, TMEM67, CEP290
6joubert syndrome 229.7TMEM216
7bardet-biedl syndrome29.7CEP290, MKS1
8coach syndrome29.7CC2D2A, RPGRIP1L, TMEM67
9encephalocele10.3
10hydrocephalus10.3
11cranial meningocele10.3
12meningitis10.3
13meningocele10.3
14frontal encephalocele10.3
15meckel syndrome10.2
16spina bifida10.2
17dandy-walker syndrome10.2
18cerebritis10.2
19exophthalmos10.2
20microcephaly10.2
21parietal encephalocele10.2
22temporal lobe epilepsy10.1
23hemangioma10.1
24meningoencephalocele10.1
25nasal encephalocele10.1
26basal encephalocele10.1
27thanatophoric dysplasia10.0
28cleft palate10.0
29nasopharyngitis10.0
30holoprosencephaly10.0
31bacterial meningitis10.0
32laryngitis10.0
33mature teratoma10.0
34thrombocytopenia10.0
35dk phocomelia syndrome10.0
36knobloch syndrome type i10.0
37meckel syndrome 110.0
38apraxia10.0TMEM216
39leber congenital amaurosis10.0CEP290
40mental retardation10.0POMT1, TGIF1
41asphyxiating thoracic dystrophy10.0CC2D2A
42retinal degeneration10.0CEP290
43intellectual disability10.0POMT1
44fundus dystrophy10.0CEP290, CC2D2A
45seckel syndrome10.0TMEM216, TMEM67, CEP290
46neurofibromatosis10.0
47goldenhar syndrome10.0
48achondrogenesis type ia10.0
49achondrogenesis10.0
50cervicitis10.0

Graphical network of the top 20 diseases related to Encephaloceles:



Diseases related to encephaloceles

Clinical Features for Encephaloceles

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Drugs & Therapeutics for Encephaloceles

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

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Drug clinical trials:

Search ClinicalTrials for Encephaloceles

Search NIH Clinical Center for Encephaloceles

Search CenterWatch for Encephaloceles

Genetic Tests for Encephaloceles

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Anatomical Context for Encephaloceles

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32MalaCards
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MalaCards organs/tissues related to Encephaloceles:

32
Brain

Animal Models for Encephaloceles or affiliated genes

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36MGI
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Publications for Encephaloceles

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Genetic Variations for Encephaloceles

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Expression for genes affiliated with Encephaloceles

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Encephaloceles

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Pathways for genes affiliated with Encephaloceles

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Compounds for genes affiliated with Encephaloceles

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GO Terms for genes affiliated with Encephaloceles

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16Gene Ontology
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Cellular components related to Encephaloceles according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.5NPHP3, TMEM216, RPGRIP1L
2cilium axonemeGO:0350859.4RPGRIP1L, B9D2, B9D1
3ciliary transition zoneGO:0358699.4B9D1, CC2D2A
4centrosomeGO:0058138.5TMEM67, MKS1, B9D1, B9D2, RPGRIP1L, CEP290
5TCTN-B9D complexGO:0360387.9CC2D2A, CEP290, TMEM67, TMEM216, TCTN2, MKS1
6microtubule basal bodyGO:0059327.4B9D1, B9D2, CC2D2A, RPGRIP1L, MKS1, TCTN2

Biological processes related to Encephaloceles according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of cAMP metabolic processGO:0308149.9NPHP3, CEP290
2embryonic hindlimb morphogenesisGO:0351169.6RPGRIP1L, ALX4, ALX3
3embryonic forelimb morphogenesisGO:0351159.5ALX4, RPGRIP1L, ALX3
4establishment or maintenance of cell polarityGO:0071639.5CEP290, NPHP3, RPGRIP1L
5determination of left/right symmetryGO:0073689.3RPGRIP1L, TGIF1, NPHP3
6smoothened signaling pathwayGO:0072249.2TCTN3, TCTN2, B9D1, CC2D2A
7cilium morphogenesisGO:0602717.8CC2D2A, CEP290, TMEM67, TMEM216, TCTN3, TCTN2
8cilium assemblyGO:0423847.5TMEM67, TMEM216, TCTN2, MKS1, B9D1, B9D2

Products for genes affiliated with Encephaloceles

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Sources for Encephaloceles

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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