MCID: BSL030
MIFTS: 26

Basal Encephalocele

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

Aliases & Classifications for Basal Encephalocele

MalaCards integrated aliases for Basal Encephalocele:

Name: Basal Encephalocele 58 71

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q01.8
Orphanet 58 ORPHA268829
UMLS 71 C4023176

Summaries for Basal Encephalocele

MalaCards based summary : Basal Encephalocele is related to hypertelorism and cleft palate, isolated. An important gene associated with Basal Encephalocele is ALX3 (ALX Homeobox 3). Affiliated tissues include eye, pituitary and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Basal Encephalocele

Diseases in the Encephalocele family:

Frontal Encephalocele Basal Encephalocele

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 29.7 ALX4 ALX3
2 cleft palate, isolated 29.1 ALX4 ALX3
3 encephalocele 10.7
4 cleft lip 10.2
5 coloboma of macula 10.1
6 frontonasal dysplasia 1 10.1
7 strabismus 10.1
8 isolated growth hormone deficiency 10.1
9 pituitary gland disease 10.1
10 mechanical strabismus 10.1
11 exophthalmos 10.1
12 diabetes insipidus 10.1
13 dwarfism 10.1
14 growth hormone deficiency 10.1
15 epidermoid cysts 9.9
16 septooptic dysplasia 9.9
17 mental retardation, x-linked, with or without seizures, arx-related 9.9
18 epileptic encephalopathy, early infantile, 1 9.9
19 partington x-linked mental retardation syndrome 9.9
20 tricuspid atresia 9.9
21 meningioma, radiation-induced 9.9
22 meningioma, familial 9.9
23 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
24 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
25 non-syndromic x-linked intellectual disability 9.9
26 brain meningioma 9.9
27 hypogonadotropic hypogonadism 9.9
28 spinal meningioma 9.9
29 hypogonadism 9.9
30 encephalomalacia 9.9
31 teratoma 9.9
32 pituitary adenoma 9.9
33 secretory meningioma 9.9
34 lymphoplasmacyte-rich meningioma 9.9
35 peripheral nervous system disease 9.9
36 adenoma 9.9
37 neuropathy 9.9
38 hypopituitarism 9.9
39 intracranial hypertension 9.9
40 meningitis 9.9
41 cerebrospinal fluid leak 9.9
42 cryptophthalmos 9.9
43 idiopathic hypertrophic pachymeningitis 9.9
44 mollaret meningitis 9.9
45 back pain 9.9
46 head injury 9.9
47 posttransplant acute limbic encephalitis 9.9
48 cleft lip/palate 9.9
49 igg4-related pachymeningitis 9.9
50 right aortic arch 9.9

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



Diseases related to Basal Encephalocele

Symptoms & Phenotypes for Basal Encephalocele

GenomeRNAi Phenotypes related to Basal Encephalocele according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.44 ALX4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.44 ALX4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.44 ALX4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.44 TGIF1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.44 TGIF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.44 ALX4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.44 ALX4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.44 ALX4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.44 ALX4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.44 ALX4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.44 ALX4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.44 TGIF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.44 ALX4

MGI Mouse Phenotypes related to Basal Encephalocele:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 ALX3 ALX4 TGIF1
2 embryo MP:0005380 9.43 ALX3 ALX4 TGIF1
3 limbs/digits/tail MP:0005371 9.33 ALX3 ALX4 TGIF1
4 respiratory system MP:0005388 9.13 ALX3 ALX4 TGIF1
5 vision/eye MP:0005391 8.8 ALX3 ALX4 TGIF1

Drugs & Therapeutics for Basal Encephalocele

Search Clinical Trials , NIH Clinical Center for Basal Encephalocele

Genetic Tests for Basal Encephalocele

Anatomical Context for Basal Encephalocele

MalaCards organs/tissues related to Basal Encephalocele:

40
Eye, Pituitary, Bone, Temporal Lobe

Publications for Basal Encephalocele

Articles related to Basal Encephalocele:

(show top 50) (show all 82)
# Title Authors PMID Year
1
A Report of Intracranial Meningioma Recurring as Ectopic Orbital Meningioma Associated With Basal Encephalocele. 61
31895728 2020
2
Delayed presentation of morning glory disc anomaly and transsphenoidal encephalocele: A management dilemma. 61
31312233 2019
3
Endoscopic trans-nasal repair of basal encephalocele associated with morning glory syndrome. 61
30095018 2018
4
Craniopharyngeal canal, morning glory disc anomaly and hypopituitarism: what do they have in common? 61
29977576 2018
5
Cognitive improvement following repair of a basal encephalocele. 61
29250724 2018
6
Basal Encephalocele Presenting with Bitemporal Hemianopsia in an Adult Male. 61
29796049 2018
7
Morning glory syndrome with Moyamoya disease: A rare association with role of imaging. 61
30050238 2018
8
Modified two flap palatoplasty in asymptomatic transsphenoidal encephalocele: a case report. 61
29732314 2018
9
Growth Hormone Deficiency, Basal Encephalocele, and Morning Glory Anomaly. 61
28938928 2017
10
[Modern diagnosis and treatment in children with congenital basal encephalocele]. 61
28665386 2017
11
Mechanism and surgical management of transsellar transsphenoidal encephalocele. 61
26256066 2015
12
Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate. 61
26044478 2015
13
Partial thickness autologus calvarial bone orbitocranioplasty for a sphenorbital encephalocele presenting as pulsatile exophthalmos. 61
25972944 2015
14
Clival encephalocele and 5q15 deletion: a case report. 61
24762864 2015
15
Spheno-orbital encephalocele: A rare entity - A case report and review of literature. 61
25126130 2014
16
Basal encephalocele in an adult patient presenting with minor anomalies: a case report. 61
24468320 2014
17
Transethmoidal encephalocele after reduction of high intracranial pressure in aqueductal stenosis. 61
24535796 2014
18
Intrasphenoidal encephalocele: an incidental finding in emergency department. 61
24314115 2013
19
Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation. 61
24174773 2013
20
Basal encephalocele associated with teratoma; pathogenesis and management, case report. 61
23724194 2013
21
Congenital orbital encephalocele, orbital dystopia, and exophthalmos. 61
22801176 2012
22
Anesthetic challenges during perioperative management of patient undergoing repair of basal encephalocele with cleft palate. 61
23162415 2012
23
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. 61
22628242 2012
24
Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies. 61
22496059 2012
25
Transsellar transsphenoidal encephalocele: a series of four cases. 61
21483136 2011
26
Temporal lobe encephalocele in the lateral recess of the sphenoid sinus presenting with intraventricular tension pneumocephalus. 61
21772809 2010
27
Mid line craniofacial defects and morning glory disc anomaly with clinical anophthalmos-a distinct clinical entity. 61
20302414 2010
28
Rhabdomyolysis after transnasal repair of anterior basal encephalocele. 61
19604548 2009
29
Endoscopic treatment of trans-sellar trans-sphenoidal encephalocele associated with morning glory syndrome presenting with non-traumatic cerebrospinal fluid rhinorrhea. 61
19322134 2009
30
A non-midline spheno-orbital encephalocele in a newborn. 61
19191207 2009
31
Acquired anterior Basal encephalocele in idiopathic hypertrophic pachymeningitis. 61
24257046 2009
32
Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases. 61
19112545 2008
33
Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency. 61
19169473 2008
34
Basal encephalocele associated with morning glory syndrome: case report. 61
18094860 2007
35
Basal encephalocele associated with hypoplasia of the internal carotid artery. 61
18159144 2007
36
[Rehabilitation on functional amblyopia in Morning Glory Syndrome]. 61
18268439 2007
37
[Morning glory disc anomaly und frontonasal dysplasia]. 61
17440733 2007
38
Transalar sphenoidal encephalocele. A case report. 61
24299645 2007
39
Chiari type capital I, Ukrainian malformation associated with morning glory disc anomaly. 61
17204923 2006
40
Caution in treating transsphenoidal encephalocele with concomitant moyamoya disease. 61
17003634 2006
41
Diagnostic approach to recurrent bacterial meningitis in children. 61
16231527 2005
42
Morning glory syndrome and basal encephalocele. 61
14691642 2004
43
Three-layer reconstruction with fascia lata and vascularized pericranium for anterior skull base defects. 61
14740265 2004
44
The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations. 61
15912188 2004
45
[Spontaneous rhinorrhea due to basal encephalocele]. 61
11696314 2001
46
A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity. 61
10712719 1999
47
Transalar sphenoidal encephalocele and respiratory distress in a neonate: a case report. 61
9917492 1999
48
Optic disc anomalies and frontonasal dysplasia. 61
9602627 1998
49
Frontonasal dysplasia: analysis of 21 cases and literature review. 61
8727576 1996
50
Lateral basal encephalocele of the infratemporal fossa. 61
8570231 1996

Variations for Basal Encephalocele

Expression for Basal Encephalocele

Search GEO for disease gene expression data for Basal Encephalocele.

Pathways for Basal Encephalocele

GO Terms for Basal Encephalocele

Cellular components related to Basal Encephalocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.8 TGIF1 ALX4 ALX3

Biological processes related to Basal Encephalocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.54 TGIF1 ALX4 ALX3
2 multicellular organism development GO:0007275 9.5 TGIF1 ALX4 ALX3
3 regulation of apoptotic process GO:0042981 9.4 ALX4 ALX3
4 pattern specification process GO:0007389 9.26 ALX4 ALX3
5 embryonic skeletal system morphogenesis GO:0048704 9.16 ALX4 ALX3
6 embryonic forelimb morphogenesis GO:0035115 8.96 ALX4 ALX3
7 embryonic hindlimb morphogenesis GO:0035116 8.62 ALX4 ALX3

Molecular functions related to Basal Encephalocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.33 TGIF1 ALX4 ALX3
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.96 ALX4 ALX3
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 8.8 TGIF1 ALX4 ALX3

Sources for Basal 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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