MCID: BSL030
MIFTS: 26

Basal Encephalocele

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

Aliases & Classifications for Basal Encephalocele

Summaries for Basal Encephalocele

MalaCards based summary : Basal Encephalocele is related to encephalocele and frontonasal dysplasia 1. An important gene associated with Basal Encephalocele is ALX3 (ALX Homeobox 3). Affiliated tissues include pituitary and eye, 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 all 16)
# Related Disease Score Top Affiliating Genes
1 encephalocele 10.6
2 frontonasal dysplasia 1 10.0
3 cleft palate, isolated 9.9
4 epidermoid cysts 9.9
5 mental retardation, x-linked, with or without seizures, arx-related 9.9
6 epileptic encephalopathy, early infantile, 1 9.9
7 partington x-linked mental retardation syndrome 9.9
8 teratoma 9.9
9 pituitary adenoma 9.9
10 pituitary gland disease 9.9
11 adenoma 9.9
12 cryptophthalmos 9.9
13 growth hormone deficiency 9.9
14 idiopathic hypertrophic pachymeningitis 9.9
15 igg4-related pachymeningitis 9.9
16 widow's peak 9.4 ALX3 ALX4

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:

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.58 ALX4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.58 TGIF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.58 ALX4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.58 ALX4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.58 ALX4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.58 TGIF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.58 TGIF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.58 ALX4 TGIF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.58 TGIF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.58 ALX4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.58 ALX4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.58 ALX4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.58 TGIF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.58 TGIF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.58 TGIF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 ALX4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.58 TGIF1

MGI Mouse Phenotypes related to Basal Encephalocele:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 ALX3 ALX4 TGIF1
2 embryo MP:0005380 9.5 ALX3 ALX4 TGIF1
3 limbs/digits/tail MP:0005371 9.43 ALX3 ALX4 TGIF1
4 respiratory system MP:0005388 9.33 ALX3 ALX4 TGIF1
5 skeleton MP:0005390 9.13 ALX3 ALX4 TGIF1
6 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:

42
Pituitary, Eye

Publications for Basal Encephalocele

Articles related to Basal Encephalocele:

(show all 30)
# Title Authors Year
1
Cognitive improvement following repair of a basal encephalocele. ( 29250724 )
2018
2
Basal Encephalocele Presenting with Bitemporal Hemianopsia in an Adult Male. ( 29796049 )
2018
3
Endoscopic trans-nasal repair of basal encephalocele associated with morning glory syndrome. ( 30095018 )
2018
4
Growth Hormone Deficiency, Basal Encephalocele, and Morning Glory Anomaly. ( 28938928 )
2017
5
Basal encephalocele in an adult patient presenting with minor anomalies: a case report. ( 24468320 )
2014
6
Basal encephalocele associated with teratoma; pathogenesis and management, case report. ( 23724194 )
2013
7
Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies. ( 22496059 )
2012
8
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. ( 22628242 )
2012
9
Anesthetic challenges during perioperative management of patient undergoing repair of basal encephalocele with cleft palate. ( 23162415 )
2012
10
Rhabdomyolysis after transnasal repair of anterior basal encephalocele. ( 19604548 )
2009
11
Acquired anterior Basal encephalocele in idiopathic hypertrophic pachymeningitis. ( 24257046 )
2009
12
Basal encephalocele associated with morning glory syndrome: case report. ( 18094860 )
2007
13
Basal encephalocele associated with hypoplasia of the internal carotid artery. ( 18159144 )
2007
14
Morning glory syndrome and basal encephalocele. ( 14691642 )
2004
15
The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations. ( 15912188 )
2004
16
A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity. ( 10712719 )
1999
17
Lateral basal encephalocele of the infratemporal fossa. ( 8570231 )
1996
18
Transnasal endoscopic management of basal encephalocele--craniotomy is no longer mandatory. ( 7661318 )
1995
19
Optic nerve compression from a basal encephalocele. ( 8574361 )
1995
20
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. ( 2080994 )
1990
21
Morning glory syndrome and basal encephalocele mimicking a pituitary adenoma. ( 3267440 )
1987
22
Anterior basal encephalocele of the neonatal and infantile period. ( 3762899 )
1986
23
Basal encephalocele presenting with monocular visual loss. ( 6233316 )
1984
24
Pituitary and hypothalamic dysfunction in a patient with a basal encephalocele. ( 6672071 )
1983
25
Basal encephalocele and morning glory syndrome. ( 6849854 )
1983
26
Basal encephalocele associated with suprasellar epidermoid cyst. ( 7073536 )
1982
27
Spontaneous cerebrospinal fluid rhinorrhea associated with dysplastic optic discs and a basal encephalocele: case report. ( 7241190 )
1981
28
The syndrome of basal encephalocele and hypothalamic-pituitary dysfunction. ( 717987 )
1978
29
Acquired basal encephalocele. ( 958625 )
1976
30
Optic nerve anomalies in basal encephalocele. ( 1090290 )
1975

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

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 ALX3 ALX4 TGIF1
2 multicellular organism development GO:0007275 9.5 ALX3 ALX4 TGIF1
3 regulation of apoptotic process GO:0042981 9.4 ALX3 ALX4
4 pattern specification process GO:0007389 9.26 ALX3 ALX4
5 embryonic skeletal system morphogenesis GO:0048704 9.16 ALX3 ALX4
6 embryonic forelimb morphogenesis GO:0035115 8.96 ALX3 ALX4
7 embryonic hindlimb morphogenesis GO:0035116 8.62 ALX3 ALX4

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.13 ALX3 ALX4 TGIF1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 8.8 ALX3 ALX4 TGIF1

Sources for Basal Encephalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....