MCID: FRN037
MIFTS: 23

Frontal Encephalocele malady

Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Frontal Encephalocele

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MalaCards based summary: Frontal Encephalocele, also known as anterior encephalocele, is related to encephalocele and corpus callosum lipoma, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, encephalocele/exencephaly and scalp/skull defect. Affiliated tissues include cerebellum and colon.

Aliases & Classifications for Frontal Encephalocele

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Sources:
48Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Frontal Encephalocele, Aliases & Descriptions:

Name: Frontal Encephalocele 48
 
Anterior Encephalocele 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

ICD10 via Orphanet26 Q01.0
ICD1025 Q01.0

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/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1encephalocele10.7
2corpus callosum lipoma10.1
3lipoma10.1
4meningitis10.1
5colonic atresia10.1
6isolated encephalocele10.1
7cranial meningocele10.1
8goldenhar syndrome10.1
9choanal atresia10.1
10frontonasal dysplasia10.1
11schizencephaly10.1
12septo-optic dysplasia10.1
13subependymal nodular heterotopia10.1

Graphical network of diseases related to Frontal Encephalocele:



Diseases related to frontal encephalocele

Symptoms for Frontal Encephalocele

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Symptoms:

48 (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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Drug clinical trials:

Search ClinicalTrials for Frontal Encephalocele

Search 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:

32
Cerebellum, Colon

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

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GO Terms for genes affiliated with Frontal Encephalocele

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Products for genes affiliated with Frontal Encephalocele

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  • Antibodies
  • Proteins
  • Lysates

Sources for Frontal 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet