MCID: FRN037
MIFTS: 24

Frontal Encephalocele

Categories: Neuronal diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Frontal Encephalocele

MalaCards integrated aliases for Frontal Encephalocele:

Name: Frontal Encephalocele 55 28 69
Anterior Encephalocele 55

Classifications:



External Ids:

Orphanet 55 ORPHA1931
UMLS via Orphanet 70 C0431289
ICD10 via Orphanet 33 Q01.0
ICD10 32 Q01.0
UMLS 69 C0431289

Summaries for Frontal Encephalocele

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 hydrocephalus, macrocephaly and dolichocephaly. Affiliated tissues include colon and cerebellum.

Related Diseases for Frontal Encephalocele

Diseases in the Encephalocele family:

Frontal Encephalocele Basal Encephalocele

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

# Related Disease Score Top Affiliating Genes
1 craniofacial anomalies and anterior segment dysgenesis syndrome 11.0
2 encephalocele 10.4
3 isolated encephalocele 10.2
4 cranial meningocele 10.2
5 lipomatosis, multiple 9.8
6 fraser syndrome 1 9.8
7 colonic atresia 9.8
8 aging 9.8
9 corpus callosum lipoma 9.8
10 meningitis 9.8

Graphical network of the top 20 diseases related to Frontal Encephalocele:



Diseases related to Frontal Encephalocele

Symptoms & Phenotypes for Frontal Encephalocele

Human phenotypes related to Frontal Encephalocele:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0000238
2 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 dolichocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000268
4 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
5 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
6 encephalocele 55 31 hallmark (90%) Very frequent (99-80%) HP:0002084
7 spina bifida 55 31 frequent (33%) Frequent (79-30%) HP:0002414
8 leukodystrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002415
9 cerebral calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0002514
10 aplasia/hypoplasia of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007370
11 skull defect 55 Frequent (79-30%)
12 calvarial skull defect 31 frequent (33%) HP:0001362

Drugs & Therapeutics for Frontal Encephalocele

Search Clinical Trials , NIH Clinical Center for Frontal Encephalocele

Genetic Tests for Frontal Encephalocele

Genetic tests related to Frontal Encephalocele:

# Genetic test Affiliating Genes
1 Frontal Encephalocele 28

Anatomical Context for Frontal Encephalocele

MalaCards organs/tissues related to Frontal Encephalocele:

38
Colon, Cerebellum

Publications for Frontal Encephalocele

Articles related to Frontal Encephalocele:

(show all 15)
# Title Authors Year
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
Corpus callosum lipoma with frontal encephalocele. ( 2333134 )
1990
10
Lateral frontal encephalocele associated with dysplasia of orbit, eyeball, and eyelid. ( 2311117 )
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

Expression for Frontal Encephalocele

Search GEO for disease gene expression data for Frontal Encephalocele.

Pathways for Frontal Encephalocele

GO Terms for Frontal Encephalocele

Sources for Frontal Encephalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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