MCID: FRN037
MIFTS: 23

Frontal Encephalocele malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Frontal Encephalocele

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Frontal Encephalocele:

Name: Frontal Encephalocele 51 65
 
Anterior Encephalocele 51

Classifications:



External Ids:

Orphanet51 1931
ICD10 via Orphanet28 Q01.0
ICD1027 Q01.0
UMLS65 C0431289

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 kidney, smooth muscle and brain.

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
6corpus callosum lipoma9.8
7meningitis9.8
8colonic atresia9.8

Graphical network of diseases related to Frontal Encephalocele:



Diseases related to frontal encephalocele

Symptoms for Frontal Encephalocele

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Symptoms:

 51 (show all 11)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • encephalocele/exencephaly
  • scalp/skull defect
  • spina bifida
  • myelomeningocele
  • hydrocephaly
  • dolichocephaly/scaphocephaly
  • hypertelorism
  • corpus callosum/septum pellucidum total/partial agenesis
  • intracranial/cerebral calcifications
  • seizures/epilepsy/absences/spasms/status epilepticus

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 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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Anatomical Context for Frontal Encephalocele

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MalaCards organs/tissues related to Frontal Encephalocele:

33
Kidney, Smooth muscle, Brain, Skin, Pituitary, Endothelial, Myeloid

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet