MCID: FRN037
MIFTS: 20

Frontal Encephalocele malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Frontal Encephalocele

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Sources:
52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 28ICD10
See all MalaCards sources

Aliases & Descriptions for Frontal Encephalocele:

Name: Frontal Encephalocele 52 25 66
 
Anterior Encephalocele 52

Classifications:



External Ids:

Orphanet52 ORPHA1931
ICD10 via Orphanet29 Q01.0
ICD1028 Q01.0

Summaries for Frontal Encephalocele

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MalaCards based summary: Frontal Encephalocele, also known as anterior encephalocele, is related to encephalocele and isolated 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
1encephalocele10.4
2isolated encephalocele10.2
3cranial meningocele10.2
4fraser syndrome9.8
5lipoma9.8
6colonic atresia9.8
7corpus callosum lipoma9.8
8meningitis9.8

Graphical network of diseases related to Frontal Encephalocele:



Diseases related to frontal encephalocele

Symptoms for Frontal Encephalocele

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Symptoms:

 52 (show all 11)
  • hydrocephalus
  • macrocephaly
  • dolichocephaly
  • hypertelorism
  • seizures
  • skull defect
  • encephalocele
  • spina bifida
  • leukodystrophy
  • cerebral calcification
  • aplasia/hypoplasia of the corpus callosum

HPO human phenotypes related to Frontal Encephalocele:

(show all 10)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 encephalocele hallmark (90%) HP:0002084
3 hydrocephalus typical (50%) HP:0000238
4 calvarial skull defect typical (50%) HP:0001362
5 myelomeningocele typical (50%) HP:0002475
6 dolichocephaly occasional (7.5%) HP:0000268
7 hypertelorism occasional (7.5%) HP:0000316
8 seizures occasional (7.5%) HP:0001250
9 cerebral calcification occasional (7.5%) HP:0002514
10 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370

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 Encephalocele25

Anatomical Context for Frontal Encephalocele

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MalaCards organs/tissues related to Frontal Encephalocele:

34
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet