MCID: OCC011
MIFTS: 26

Occipital Encephalocele

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Occipital Encephalocele

MalaCards integrated aliases for Occipital Encephalocele:

Name: Occipital Encephalocele 60 56 6

Classifications:



External Ids:

ICD10 34 Q01.2
ICD10 via Orphanet 35 Q01.2
UMLS via Orphanet 75 C0014067
Orphanet 60 ORPHA268823

Summaries for Occipital Encephalocele

MalaCards based summary : Occipital Encephalocele is related to meckel syndrome, type 1 and encephalocele. An important gene associated with Occipital Encephalocele is CEP290 (Centrosomal Protein 290). Affiliated tissues include heart, cerebellum and skin, and related phenotype is skeleton.

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

MGI Mouse Phenotypes related to Occipital Encephalocele:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 CEP290 COL18A1 CYP26B1 DACT1

Drugs & Therapeutics for Occipital Encephalocele

Search Clinical Trials , NIH Clinical Center for Occipital Encephalocele

Genetic Tests for Occipital Encephalocele

Anatomical Context for Occipital Encephalocele

MalaCards organs/tissues related to Occipital Encephalocele:

42
Heart, Cerebellum, Skin, Brain, Kidney

Publications for Occipital Encephalocele

Articles related to Occipital Encephalocele:

(show top 50) (show all 93)
# Title Authors Year
1
Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome. ( 30617574 )
2019
2
Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration. ( 29962502 )
2018
3
Giant Occipital Encephalocele with Chiari Malformation Type 3. ( 30271061 )
2018
4
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 )
2018
5
Neurosurgical Interventions for Occipital Encephalocele. ( 29682014 )
2018
6
Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Patient with Dandy-Walker Malformation. ( 29890274 )
2018
7
A Brief Review of Giant Occipital Encephalocele. ( 30271032 )
2018
8
A Giant Occipital Encephalocele in Neonate with Spontaneous Hemorrhage into the Encephalocele Sac: Surgical Management. ( 29204205 )
2017
9
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. ( 26876766 )
2016
10
Primary Occipital Encephalocele in an Elderly Patient. ( 26999692 )
2016
11
Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. ( 27057033 )
2016
12
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
13
Successful Treatment of Large Occipital Encephalocele Presenting with Bilateral Vocal Cord Paralysis: A Case Report. ( 29901361 )
2016
14
Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele. ( 26816952 )
2015
15
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
16
Supra- and infra-torcular double occipital encephalocele. ( 25307275 )
2015
17
A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report. ( 25685207 )
2014
18
Images in anesthesiology: airway management in an infant with a giant occipital encephalocele. ( 23788049 )
2014
19
Extra giant occipital encephalocele--can it grow bigger than this? ( 24522946 )
2014
20
A novel technique in airway management of neonates with occipital encephalocele. ( 25359415 )
2014
21
In response to the article: Giant occipital encephalocele: a new paradigm. ( 23216935 )
2013
22
Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. ( 23443296 )
2013
23
Anesthetic management in a newborn with a giant occipital encephalocele: a case report. ( 23494729 )
2013
24
Torcular occipital encephalocele in infant: Report of two cases and review of literature. ( 24470814 )
2013
25
Perioperative challenges in patients with giant occipital encephalocele with microcephaly and micrognathia. ( 22346198 )
2012
26
Occipital encephalocele and spinal meningomyelocele in same patient: new theories hold true? ( 22544671 )
2012
27
Giant occipital encephalocele: a new paradigm. ( 22594415 )
2012
28
Congenital occipital encephalocele with Dabska tumor: report of an unusual case. ( 22831960 )
2012
29
A rare case of ventricular diverticulum in a child with occipital encephalocele. ( 22922324 )
2012
30
Mature teratoma in association with neural tube defect (occipital encephalocele): series of four cases and review of the literature. ( 22986898 )
2012
31
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases. ( 21897680 )
2011
32
Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? ( 21932183 )
2011
33
Intubating children with giant occipital encephalocele in lateral position: Right or left side? ( 22096311 )
2011
34
Prognostic factors in patients with occipital encephalocele. ( 20453557 )
2010
35
Management of neonatal giant occipital encephalocele: Anaesthetic challenge. ( 21189892 )
2010
36
A giant occipital encephalocele. ( 22953259 )
2010
37
Large supra- and infra-tentorial occipital encephalocele encompassing posterior sagittal sinus and torcular Herophili. ( 19308424 )
2009
38
Risk factors associated with occipital encephalocele: a case-control study. Clinical article. ( 19485742 )
2009
39
Dandy-Walker syndrome together with occipital encephalocele. ( 18511899 )
2008
40
Anesthetic management in two infants with giant occipital encephalocele. ( 18435698 )
2008
41
Occipital encephalocele associated with iniencephaly mimicking an unilateral nuchal tumor on prenatal ultrasound. ( 18564506 )
2008
42
Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele. ( 18661486 )
2008
43
Airway management in a patient with occipital encephalocele with retrognathia and complete bilateral cleft palate. ( 18685951 )
2008
44
Airway management in neonates with occipital encephalocele: easy does it. ( 18806073 )
2008
45
Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease. ( 18810345 )
2008
46
Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations. ( 18978658 )
2008
47
Giant occipital encephalocele associated with microcephaly and micrognathia. ( 19127097 )
2008
48
Progressive skin necrosis of a huge occipital encephalocele. ( 19753210 )
2008
49
A five-generation family with occipital encephalocele. ( 16793200 )
2007
50
A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. ( 17394389 )
2007

Variations for Occipital Encephalocele

ClinVar genetic disease variations for Occipital Encephalocele:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh38 Chromosome 12, 88083161: 88083161
2 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh37 Chromosome 12, 88476938: 88476938
3 WDR63 NC_000001.11: g.85104020_85119891del15872 deletion Likely pathogenic GRCh37 Chromosome 1, 85569702: 85585573
4 WDR63 NC_000001.11: g.85104020_85119891del15872 deletion Likely pathogenic GRCh38 Chromosome 1, 85104020: 85119891
5 CEP290 NM_025114.3(CEP290): c.5710-3C> G single nucleotide variant Likely pathogenic rs1555202126 GRCh37 Chromosome 12, 88465706: 88465706
6 CEP290 NM_025114.3(CEP290): c.5710-3C> G single nucleotide variant Likely pathogenic rs1555202126 GRCh38 Chromosome 12, 88071929: 88071929

Expression for Occipital Encephalocele

Search GEO for disease gene expression data for Occipital Encephalocele.

Pathways for Occipital Encephalocele

GO Terms for Occipital Encephalocele

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.16 CEP290 TCTN3
2 cell projection organization GO:0030030 8.96 CEP290 TCTN3
3 ciliary basal body-plasma membrane docking GO:0097711 8.62 CEP290 TCTN3

Sources for Occipital 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
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