MCID: FRN037
MIFTS: 26

Frontal Encephalocele

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Frontal Encephalocele

MalaCards integrated aliases for Frontal Encephalocele:

Name: Frontal Encephalocele 58 29 71 32
Anterior Encephalocele 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q01.0
ICD10 via Orphanet 33 Q01.0
UMLS via Orphanet 72 C0431289
Orphanet 58 ORPHA1931
UMLS 71 C0431289

Summaries for Frontal Encephalocele

MalaCards based summary : Frontal Encephalocele, also known as anterior encephalocele, is related to craniotelencephalic dysplasia and craniofacial anomalies and anterior segment dysgenesis syndrome. Affiliated tissues include colon, cerebellum and brain, and related phenotypes are macrocephaly and encephalocele

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:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 craniotelencephalic dysplasia 11.3
2 craniofacial anomalies and anterior segment dysgenesis syndrome 11.3
3 encephalocele 11.1
4 isolated encephalocele 10.5
5 cranial meningocele 10.5
6 hypertelorism 10.1
7 lipomatosis, multiple 10.1
8 pleomorphic lipoma 10.1
9 hydrocephalus 10.1
10 corpus callosum lipoma 10.1
11 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
12 exophthalmos 10.0
13 fraser syndrome 1 10.0
14 colonic atresia 10.0
15 pain agnosia 10.0
16 meningitis 10.0
17 mollaret meningitis 10.0
18 basal encephalocele 10.0
19 cleft palate, isolated 9.9
20 frontonasal dysplasia 1 9.9
21 neurofibromatosis, type iv, of riccardi 9.9
22 hemifacial microsomia 9.9
23 septooptic dysplasia 9.9
24 tetralogy of fallot 9.9
25 arachnoid cysts, intracranial 9.9
26 corpus callosum, agenesis of 9.9
27 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.9
28 schizencephaly 9.9
29 corpus callosum, partial agenesis of, x-linked 9.9
30 thoracoabdominal syndrome 9.9
31 fryns microphthalmia syndrome 9.9
32 choanal atresia, posterior 9.9
33 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
34 ectopic pregnancy 9.9
35 microcephaly 9.9
36 teratoma 9.9
37 nervous system disease 9.9
38 craniofacial microsomia 9.9
39 polymicrogyria 9.9
40 meningoencephalocele 9.9
41 single ventricular heart 9.9
42 subependymal nodular heterotopia 9.9
43 rare surgical neurologic disease 9.9

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 encephalocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002084
3 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
4 spina bifida 58 31 frequent (33%) Frequent (79-30%) HP:0002414
5 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
6 calvarial skull defect 31 frequent (33%) HP:0001362
7 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
8 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
9 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
10 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
11 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
12 skull defect 58 Frequent (79-30%)

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 29

Anatomical Context for Frontal Encephalocele

MalaCards organs/tissues related to Frontal Encephalocele:

40
Colon, Cerebellum, Brain, Endothelial, Pineal, Heart

Publications for Frontal Encephalocele

Articles related to Frontal Encephalocele:

(show top 50) (show all 77)
# Title Authors PMID Year
1
The relationship between external bony defects and widened lateral interorbital distance in frontoethmoidal encephalomeningocele. 61
31409529 2019
2
Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI. 61
31949351 2019
3
Non-Midline Frontal Encephalocele Presenting as Disappearing Dermoid. 61
31756879 2019
4
Management of median and paramedian craniofacial clefts. 61
30691993 2019
5
Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report. 61
29782331 2018
6
Encephalocele presenting as lower lid swelling: A rare case report. 61
29480266 2018
7
Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles. 61
28499675 2017
8
Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India. 61
28398708 2017
9
Acquired Encephalocele With Hydrocephalus and Pineal Region Epidermoid Cyst. 61
27315314 2016
10
Supraciliary keyhole craniotomy for anterior frontal lesions in children. 61
26758703 2016
11
Giant Interfrontal Encephalocele in an Infant: A Rare Entity. 61
27513987 2016
12
Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. 61
26267579 2015
13
Prenatal Diagnosis of A Case with Frontoethmoidal Encephalocele and the Neonatal Outcome. 61
26393172 2015
14
Acalvaria. 61
24926969 2014
15
Recurrent meningitis and frontal encephalocele as delayed complications of craniofacial trauma. 61
24561371 2014
16
The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital--a three year experience. 61
23441515 2013
17
Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele. 61
24592072 2013
18
New classification scheme of proboscis lateralis based on a review of 50 cases. 61
21219222 2012
19
A case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. 61
24665280 2012
20
Colon atresia and frontal encephalocele: a rare association. 61
22152902 2011
21
Anterior encephalocele - AIIMS experience a series of 133 patients. 61
22069427 2011
22
Recurrent meningitis associated with frontal sinus tuber encephalocele in a patient with tuberous sclerosis. 61
21721896 2011
23
Giant encephalocele: a study of 14 patients. 61
22776867 2011
24
Review of skull base surgery in a Nigerian teaching hospital. 61
20348983 2010
25
Rhinorrhoea from a frontal encephalocele after reduction of high intracranial pressure. 61
19015807 2008
26
Temporal anterior encephalocele. 61
18852447 2008
27
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. 61
18553510 2008
28
Frontal encephalocele in a middle-aged woman with first seizure: smells like a seizure to me. 61
18180446 2008
29
Photoclinic. Anterior encephalocele. 61
17903067 2007
30
[Surgical treatment for anterior cerebral hernias]. 61
18041208 2007
31
Anterior encephalocele associated with subependymal nodular heterotopia, cortical dysplasia and epilepsy: case report and review of the literature. 61
17035053 2006
32
Anterior encephaloceles: a series of 103 cases over 32 years. 61
16679016 2006
33
[Anterior encephalocele in a human embryo resulting from an ectopic pregnancy]. 61
16625517 2006
34
Prenatal diagnosis of the fetal frontal encephalocele by three-dimensional ultrasound. 61
16566057 2006
35
Anterior encephalocele with subcutaneous right facial nodule. 61
15280818 2004
36
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. 61
15051220 2004
37
Anterior encephaloceles: a study of 92 cases. 61
11919444 2002
38
Unilateral CHARGE association. 61
11954755 2002
39
A heterotopic cerebellum presenting as a suprasellar mass with associated nasopharyngeal teratoma. 61
10871025 2000
40
Applications of intrathecal catheters in children. 61
10886692 2000
41
Anterior encephalocele mimicking choanal atresia. 61
10745359 1999
42
Prenatal diagnosis of dacryocystocele: a possible marker for syndromes. 61
10461343 1999
43
Craniofacial correction of giant frontoethmoidal encephalomeningocele. 61
10388410 1999
44
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube. 61
9800912 1998
45
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. 61
9375920 1997
46
Intrathecal morphine for postoperative analgesia following repair of frontal encephaloceles in children: comparison with intermittent, on-demand dosing of nalbuphine. 61
9195349 1997
47
[Ectopic neuroglial tissue associated with intrapulmonary congenital cystic adenomatoid malformation]. 61
9198734 1997
48
Uncommon craniospinal dysraphism. 61
8893940 1996
49
Anterior encephalocele and anophthalmia. 61
8867665 1996
50
Lipoma of the corpus callosum with frontal encephalocele. 61
29542516 1995

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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