MCID: OCC011
MIFTS: 25

Occipital Encephalocele

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Occipital Encephalocele

MalaCards integrated aliases for Occipital Encephalocele:

Name: Occipital Encephalocele 55 28 51

Classifications:



External Ids:

Orphanet 55 ORPHA268823
UMLS via Orphanet 70 C0014067
ICD10 via Orphanet 33 Q01.2
ICD10 32 Q01.2

Summaries for Occipital Encephalocele

MalaCards based summary : Occipital Encephalocele is related to encephalocele and neural tube defects. 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 phenotypes are Increased Sindbis virus (SINV) infection and Increased Sindbis virus (SINV) infection

Related Diseases for Occipital Encephalocele

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 encephalocele 29.7 COL18A1 CYP26B1 TCTN3
2 neural tube defects 28.7 CYP26B1 DACT1
3 knobloch syndrome 1 12.1
4 knobloch syndrome 11.9
5 radiohumeral fusions with other skeletal and craniofacial anomalies 11.7
6 meckel syndrome, type 1 11.4
7 meckel syndrome, type 3 11.1
8 meckel syndrome, type 4 11.1
9 orofaciodigital syndrome iv 11.1
10 isolated encephalocele 10.2
11 cranial meningocele 10.2
12 microcephaly 10.1
13 situs inversus 9.9
14 cleft palate, isolated 9.9
15 achondrogenesis, type ia 9.9
16 hydrocephalus 9.9
17 achondrogenesis 9.9
18 laryngitis 9.8
19 neural tube defects, folate-sensitive 9.8
20 mature teratoma 9.8
21 atrial septal defect 1 9.8
22 polydactyly 9.8
23 blood group, i system 9.8
24 mediastinitis 9.8
25 lipomyelomeningocele 9.8
26 duodenitis 9.8
27 neurofibromatosis, type i 9.8
28 rubella 9.8
29 neurofibromatosis, type iv, of riccardi 9.8
30 polymicrogyria, bilateral temporooccipital 9.8
31 polymicrogyria 9.8
32 tetralogy of fallot 9.8
33 holoprosencephaly 9.8
34 iniencephaly 9.8
35 joubert syndrome 1 9.8
36 murcs association 9.8
37 dandy-walker syndrome 9.8
38 klippel-feil syndrome 9.8
39 passos-bueno syndrome 9.8
40 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.8
41 megalencephaly 9.8
42 macrocephaly/megalencephaly syndrome, autosomal recessive 9.8
43 heart disease 9.8
44 dermoid cyst 9.8
45 teratoma 9.8

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:

25
# 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:

# Genetic test Affiliating Genes
1 Occipital Encephalocele 28

Anatomical Context for Occipital Encephalocele

MalaCards organs/tissues related to Occipital Encephalocele:

38
Cerebellum, Brain, Skin, Lung, Heart, Kidney

Publications for Occipital Encephalocele

Articles related to Occipital Encephalocele:

(show top 50) (show all 88)
# Title Authors Year
1
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish. ( 29285825 )
2017
2
A Giant Occipital Encephalocele in Neonate with Spontaneous Hemorrhage into the Encephalocele Sac: Surgical Management. ( 29204205 )
2017
3
Primary Occipital Encephalocele in an Elderly Patient. ( 26999692 )
2016
4
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. ( 26876766 )
2016
5
Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. ( 27057033 )
2016
6
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
7
Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele. ( 26816952 )
2015
8
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
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
A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report. ( 25685207 )
2014
12
Supra- and infra-torcular double occipital encephalocele. ( 25307275 )
2014
13
In response to the article: Giant occipital encephalocele: a new paradigm. ( 23216935 )
2013
14
Torcular occipital encephalocele in infant: Report of two cases and review of literature. ( 24470814 )
2013
15
Airway Management in an Infant with a Giant Occipital Encephalocele. ( 23788049 )
2013
16
Anesthetic management in a newborn with a giant occipital encephalocele: a case report. ( 23494729 )
2013
17
Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. ( 23443296 )
2013
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
Congenital occipital encephalocele with Dabska tumor: report of an unusual case. ( 22831960 )
2012
21
Mature teratoma in association with neural tube defect (occipital encephalocele): series of four cases and review of the literature. ( 22986898 )
2012
22
Perioperative challenges in patients with giant occipital encephalocele with microcephaly and micrognathia. ( 22346198 )
2012
23
Giant occipital encephalocele: a new paradigm. ( 22594415 )
2012
24
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases. ( 21897680 )
2011
25
Intubating children with giant occipital encephalocele in lateral position: Right or left side? ( 22096311 )
2011
26
Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? ( 21932183 )
2011
27
A giant occipital encephalocele. ( 22953259 )
2010
28
Management of neonatal giant occipital encephalocele: Anaesthetic challenge. ( 21189892 )
2010
29
Prognostic factors in patients with occipital encephalocele. ( 20453557 )
2010
30
Risk factors associated with occipital encephalocele: a case-control study. Clinical article. ( 19485742 )
2009
31
Large supra- and infra-tentorial occipital encephalocele encompassing posterior sagittal sinus and torcular Herophili. ( 19308424 )
2009
32
Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations. ( 18978658 )
2008
33
Airway management in neonates with occipital encephalocele: easy does it. ( 18806073 )
2008
34
Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease. ( 18810345 )
2008
35
Giant occipital encephalocele associated with microcephaly and micrognathia. ( 19127097 )
2008
36
Progressive skin necrosis of a huge occipital encephalocele. ( 19753210 )
2008
37
Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele. ( 18661486 )
2008
38
Occipital encephalocele associated with iniencephaly mimicking an unilateral nuchal tumor on prenatal ultrasound. ( 18564506 )
2008
39
Airway management in a patient with occipital encephalocele with retrognathia and complete bilateral cleft palate. ( 18685951 )
2008
40
Dandy-Walker syndrome together with occipital encephalocele. ( 18511899 )
2008
41
Anesthetic management in two infants with giant occipital encephalocele. ( 18435698 )
2008
42
Airway management in neonates with occipital encephalocele: adjustments and modifications. ( 17897287 )
2007
43
A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. ( 17394389 )
2007
44
A five-generation family with occipital encephalocele. ( 16793200 )
2007
45
Neonatal airway management in occipital encephalocele. ( 17122307 )
2006
46
Neurofibromatosis type I with occipital encephalocele. ( 16679660 )
2006
47
Expansile cranioplasty for massive occipital encephalocele. ( 16708252 )
2006
48
Surgical closure and reconstruction of a large occipital encephalocele without parenchymal excision. ( 15351895 )
2005
49
Concordant occipital encephalocele in monoamniotic twins. ( 16211777 )
2005
50
Gangrene of an occipital encephalocele. ( 15973035 )
2005

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
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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