MCID: OCC011
MIFTS: 23

Occipital Encephalocele

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Occipital Encephalocele

MalaCards integrated aliases for Occipital Encephalocele:

Name: Occipital Encephalocele 56 29 52

Classifications:



External Ids:

Orphanet 56 ORPHA268823
UMLS via Orphanet 70 C0014067
ICD10 via Orphanet 34 Q01.2
ICD10 33 Q01.2

Summaries for Occipital Encephalocele

MalaCards based summary : Occipital Encephalocele is related to neural tube defects and knobloch syndrome, type 1. An important gene associated with Occipital Encephalocele is DACT1 (Dishevelled Binding Antagonist Of Beta Catenin 1). Affiliated tissues include cerebellum, brain and skin, and related phenotype is Increased Sindbis virus (SINV) infection.

Related Diseases for Occipital Encephalocele

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



Diseases related to Occipital Encephalocele

Symptoms & Phenotypes for Occipital Encephalocele

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Sindbis virus (SINV) infection GR00310-A-1 9.23 COL18A1 DACT1
2 Increased Sindbis virus (SINV) infection GR00310-A-2 9.23 COL18A1 DACT1

Drugs & Therapeutics for Occipital Encephalocele

Search Clinical Trials , NIH Clinical Center for Occipital Encephalocele

Genetic Tests for Occipital Encephalocele

Genetic tests related to Occipital Encephalocele:

id Genetic test Affiliating Genes
1 Occipital Encephalocele 29

Anatomical Context for Occipital Encephalocele

MalaCards organs/tissues related to Occipital Encephalocele:

39
Cerebellum, Brain, Skin, Lung, Heart, Kidney

Publications for Occipital Encephalocele

Articles related to Occipital Encephalocele:

(show top 50) (show all 86)
id Title Authors Year
1
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. ( 26876766 )
2016
2
Primary Occipital Encephalocele in an Elderly Patient. ( 26999692 )
2016
3
Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. ( 27057033 )
2016
4
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
5
Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele. ( 26816952 )
2015
6
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
7
Supra- and infra-torcular double occipital encephalocele. ( 25307275 )
2014
8
A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report. ( 25685207 )
2014
9
A novel technique in airway management of neonates with occipital encephalocele. ( 25359415 )
2014
10
Extra giant occipital encephalocele--can it grow bigger than this? ( 24522946 )
2014
11
Anesthetic management in a newborn with a giant occipital encephalocele: a case report. ( 23494729 )
2013
12
Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. ( 23443296 )
2013
13
Airway Management in an Infant with a Giant Occipital Encephalocele. ( 23788049 )
2013
14
In response to the article: Giant occipital encephalocele: a new paradigm. ( 23216935 )
2013
15
Torcular occipital encephalocele in infant: Report of two cases and review of literature. ( 24470814 )
2013
16
Perioperative challenges in patients with giant occipital encephalocele with microcephaly and micrognathia. ( 22346198 )
2012
17
Mature teratoma in association with neural tube defect (occipital encephalocele): series of four cases and review of the literature. ( 22986898 )
2012
18
Occipital encephalocele and spinal meningomyelocele in same patient: new theories hold true? ( 22544671 )
2012
19
A rare case of ventricular diverticulum in a child with occipital encephalocele. ( 22922324 )
2012
20
Giant occipital encephalocele: a new paradigm. ( 22594415 )
2012
21
Congenital occipital encephalocele with Dabska tumor: report of an unusual case. ( 22831960 )
2012
22
Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? ( 21932183 )
2011
23
Intubating children with giant occipital encephalocele in lateral position: Right or left side? ( 22096311 )
2011
24
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases. ( 21897680 )
2011
25
Management of neonatal giant occipital encephalocele: Anaesthetic challenge. ( 21189892 )
2010
26
Prognostic factors in patients with occipital encephalocele. ( 20453557 )
2010
27
A giant occipital encephalocele. ( 22953259 )
2010
28
Large supra- and infra-tentorial occipital encephalocele encompassing posterior sagittal sinus and torcular Herophili. ( 19308424 )
2009
29
Risk factors associated with occipital encephalocele: a case-control study. Clinical article. ( 19485742 )
2009
30
Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations. ( 18978658 )
2008
31
Airway management in neonates with occipital encephalocele: easy does it. ( 18806073 )
2008
32
Airway management in a patient with occipital encephalocele with retrognathia and complete bilateral cleft palate. ( 18685951 )
2008
33
Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease. ( 18810345 )
2008
34
Progressive skin necrosis of a huge occipital encephalocele. ( 19753210 )
2008
35
Anesthetic management in two infants with giant occipital encephalocele. ( 18435698 )
2008
36
Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele. ( 18661486 )
2008
37
Dandy-Walker syndrome together with occipital encephalocele. ( 18511899 )
2008
38
Giant occipital encephalocele associated with microcephaly and micrognathia. ( 19127097 )
2008
39
Occipital encephalocele associated with iniencephaly mimicking an unilateral nuchal tumor on prenatal ultrasound. ( 18564506 )
2008
40
A five-generation family with occipital encephalocele. ( 16793200 )
2007
41
Airway management in neonates with occipital encephalocele: adjustments and modifications. ( 17897287 )
2007
42
A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. ( 17394389 )
2007
43
Neurofibromatosis type I with occipital encephalocele. ( 16679660 )
2006
44
Expansile cranioplasty for massive occipital encephalocele. ( 16708252 )
2006
45
Neonatal airway management in occipital encephalocele. ( 17122307 )
2006
46
Surgical closure and reconstruction of a large occipital encephalocele without parenchymal excision. ( 15351895 )
2005
47
Gangrene of an occipital encephalocele. ( 15973035 )
2005
48
Concordant occipital encephalocele in monoamniotic twins. ( 16211777 )
2005
49
Giant occipital encephalocele with microcephaly and micrognathia. ( 15608496 )
2004
50
Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. ( 12541087 )
2003

Variations for Occipital Encephalocele

Expression for Occipital Encephalocele

Search GEO for disease gene expression data for Occipital Encephalocele.

Pathways for Occipital Encephalocele

GO Terms for Occipital Encephalocele

Sources for Occipital Encephalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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