MCID: FRN037
MIFTS: 20

Frontal Encephalocele malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Frontal Encephalocele

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Sources:
26GTR, 29ICD10, 30ICD10 via Orphanet, 53Orphanet, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Frontal Encephalocele:

Name: Frontal Encephalocele 53 26 67
 
Anterior Encephalocele 53

Classifications:



External Ids:

Orphanet53 ORPHA1931
ICD10 via Orphanet30 Q01.0
ICD1029 Q01.0

Summaries for Frontal Encephalocele

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MalaCards based summary: Frontal Encephalocele, also known as anterior encephalocele, is related to craniofacial anomalies and anterior segment dysgenesis syndrome and encephalocele, and has symptoms including macrocephaly, encephalocele and hydrocephalus. Affiliated tissues include colon and cerebellum.

Related Diseases for Frontal Encephalocele

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Diseases in the Encephalocele family:

frontal encephalocele Basal Encephalocele

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

idRelated DiseaseScoreTop Affiliating Genes
1craniofacial anomalies and anterior segment dysgenesis syndrome10.9
2encephalocele10.3
3isolated encephalocele10.1
4cranial meningocele10.1
5fraser syndrome9.7
6lipoma9.7
7colonic atresia9.7
8corpus callosum lipoma9.7
9meningitis9.7

Graphical network of diseases related to Frontal Encephalocele:



Diseases related to frontal encephalocele

Symptoms for Frontal Encephalocele

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Human phenotypes related to Frontal Encephalocele:

 63 53 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
2 encephalocele63 53 hallmark (90%) Very frequent (99-80%) HP:0002084
3 hydrocephalus63 53 typical (50%) Frequent (79-30%) HP:0000238
4 calvarial skull defect63 typical (50%) HP:0001362
5 myelomeningocele63 typical (50%) HP:0002475
6 dolichocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000268
7 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
8 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
9 cerebral calcification63 53 occasional (7.5%) Occasional (29-5%) HP:0002514
10 aplasia/hypoplasia of the corpus callosum63 53 occasional (7.5%) Occasional (29-5%) HP:0007370
11 skull defect53 Frequent (79-30%)
12 spina bifida53 Frequent (79-30%)
13 leukodystrophy53 Frequent (79-30%)

Drugs & Therapeutics for Frontal Encephalocele

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Frontal Encephalocele

Genetic Tests for Frontal Encephalocele

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Genetic tests related to Frontal Encephalocele:

id Genetic test Affiliating Genes
1 Frontal Encephalocele26

Anatomical Context for Frontal Encephalocele

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MalaCards organs/tissues related to Frontal Encephalocele:

35
Colon, Cerebellum

Animal Models for Frontal Encephalocele or affiliated genes

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Publications for Frontal Encephalocele

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Articles related to Frontal Encephalocele:

(show all 15)
idTitleAuthorsYear
1
Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. (26267579)
2015
2
Recurrent meningitis and frontal encephalocele as delayed complications of craniofacial trauma. (24561371)
2014
3
Colon atresia and frontal encephalocele: a rare association. (22152902)
2011
4
Rhinorrhoea from a frontal encephalocele after reduction of high intracranial pressure. (19015807)
2008
5
Frontal encephalocele in a middle-aged woman with first seizure: smells like a seizure to me. (18180446)
2008
6
Prenatal diagnosis of the fetal frontal encephalocele by three-dimensional ultrasound. (16566057)
2006
7
Intrathecal morphine for postoperative analgesia following repair of frontal encephaloceles in children: comparison with intermittent, on-demand dosing of nalbuphine. (9195349)
1997
8
The repair of frontal encephaloceles in Papua New Guinea. (7980262)
1994
9
Lateral frontal encephalocele associated with dysplasia of orbit, eyeball, and eyelid. (2311117)
1990
10
Corpus callosum lipoma with frontal encephalocele. (2333134)
1990
11
Frontal encephalocele and the nasal cavity. (3347336)
1988
12
Heterotopic growth of dysplastic cerebellum in frontal encephalocele in an infant of a diabetic mother. (7093822)
1982
13
Nontraumatic frontal encephalocele. (7227254)
1980
14
Frontal encephaloceles. (4578728)
1973
15
A note on frontal encephalocele. Case report with a 20-year follow-up. (5060324)
1972

Variations for Frontal Encephalocele

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Expression for genes affiliated with Frontal Encephalocele

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Search GEO for disease gene expression data for Frontal Encephalocele.

Pathways for genes affiliated with Frontal Encephalocele

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GO Terms for genes affiliated with Frontal Encephalocele

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Sources for Frontal Encephalocele

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet