MCID: OCC011
MIFTS: 28

Occipital Encephalocele

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Occipital Encephalocele

MalaCards integrated aliases for Occipital Encephalocele:

Name: Occipital Encephalocele 59 29 55 6

Classifications:



External Ids:

Orphanet 59 ORPHA268823
UMLS via Orphanet 74 C0014067
ICD10 via Orphanet 34 Q01.2
ICD10 33 Q01.2

Summaries for Occipital Encephalocele

MalaCards based summary : Occipital Encephalocele is related to encephalocele and joubert syndrome 1. An important gene associated with Occipital Encephalocele is CEP290 (Centrosomal Protein 290). Affiliated tissues include cerebellum, brain and skin, and related phenotypes are cardiovascular system and craniofacial

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.46 CEP290 COL18A1 CYP26B1 DACT1
2 craniofacial MP:0005382 9.13 CEP290 COL18A1 CYP26B1
3 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

Genetic tests related to Occipital Encephalocele:

# Genetic test Affiliating Genes
1 Occipital Encephalocele 29

Anatomical Context for Occipital Encephalocele

MalaCards organs/tissues related to Occipital Encephalocele:

41
Cerebellum, Brain, Skin, Lung, Heart, Kidney

Publications for Occipital Encephalocele

Articles related to Occipital Encephalocele:

(show top 50) (show all 92)
# Title Authors Year
1
Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration. ( 29962502 )
2018
2
Neurosurgical Interventions for Occipital Encephalocele. ( 29682014 )
2018
3
Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in a Patient with Dandy-Walker Malformation. ( 29890274 )
2018
4
A Giant Occipital Encephalocele in Neonate with Spontaneous Hemorrhage into the Encephalocele Sac: Surgical Management. ( 29204205 )
2017
5
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
6
Successful Treatment of Large Occipital Encephalocele Presenting with Bilateral Vocal Cord Paralysis: A Case Report. ( 29901361 )
2016
7
Primary Occipital Encephalocele in an Elderly Patient. ( 26999692 )
2016
8
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
9
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. ( 26876766 )
2016
10
Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association. ( 27057033 )
2016
11
Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele. ( 26816952 )
2015
12
MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE. ( 26852507 )
2015
13
Supra- and infra-torcular double occipital encephalocele. ( 25307275 )
2014
14
Extra giant occipital encephalocele--can it grow bigger than this? ( 24522946 )
2014
15
A novel technique in airway management of neonates with occipital encephalocele. ( 25359415 )
2014
16
A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report. ( 25685207 )
2014
17
Airway Management in an Infant with a Giant Occipital Encephalocele. ( 23788049 )
2013
18
Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. ( 23443296 )
2013
19
Torcular occipital encephalocele in infant: Report of two cases and review of literature. ( 24470814 )
2013
20
Anesthetic management in a newborn with a giant occipital encephalocele: a case report. ( 23494729 )
2013
21
In response to the article: Giant occipital encephalocele: a new paradigm. ( 23216935 )
2013
22
Perioperative challenges in patients with giant occipital encephalocele with microcephaly and micrognathia. ( 22346198 )
2012
23
Mature teratoma in association with neural tube defect (occipital encephalocele): series of four cases and review of the literature. ( 22986898 )
2012
24
Giant occipital encephalocele: a new paradigm. ( 22594415 )
2012
25
Congenital occipital encephalocele with Dabska tumor: report of an unusual case. ( 22831960 )
2012
26
A rare case of ventricular diverticulum in a child with occipital encephalocele. ( 22922324 )
2012
27
Occipital encephalocele and spinal meningomyelocele in same patient: new theories hold true? ( 22544671 )
2012
28
Airway management for occipital encephalocele in neonatal patients: A review of 17 cases. ( 21897680 )
2011
29
Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? ( 21932183 )
2011
30
Intubating children with giant occipital encephalocele in lateral position: Right or left side? ( 22096311 )
2011
31
Management of neonatal giant occipital encephalocele: Anaesthetic challenge. ( 21189892 )
2010
32
Prognostic factors in patients with occipital encephalocele. ( 20453557 )
2010
33
A giant occipital encephalocele. ( 22953259 )
2010
34
Large supra- and infra-tentorial occipital encephalocele encompassing posterior sagittal sinus and torcular Herophili. ( 19308424 )
2009
35
Risk factors associated with occipital encephalocele: a case-control study. Clinical article. ( 19485742 )
2009
36
Dandy-Walker syndrome together with occipital encephalocele. ( 18511899 )
2008
37
Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease. ( 18810345 )
2008
38
Airway management in a patient with occipital encephalocele with retrognathia and complete bilateral cleft palate. ( 18685951 )
2008
39
Airway management in neonates with occipital encephalocele: easy does it. ( 18806073 )
2008
40
Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele. ( 18661486 )
2008
41
Progressive skin necrosis of a huge occipital encephalocele. ( 19753210 )
2008
42
Anesthetic management in two infants with giant occipital encephalocele. ( 18435698 )
2008
43
Giant occipital encephalocele associated with microcephaly and micrognathia. ( 19127097 )
2008
44
Occipital encephalocele associated with iniencephaly mimicking an unilateral nuchal tumor on prenatal ultrasound. ( 18564506 )
2008
45
Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations. ( 18978658 )
2008
46
Airway management in neonates with occipital encephalocele: adjustments and modifications. ( 17897287 )
2007
47
A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. ( 17394389 )
2007
48
A five-generation family with occipital encephalocele. ( 16793200 )
2007
49
Neonatal airway management in occipital encephalocele. ( 17122307 )
2006
50
Expansile cranioplasty for massive occipital encephalocele. ( 16708252 )
2006

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_000001.10: g.85569702_85585573del deletion Likely pathogenic GRCh37 Chromosome 1, 85569702: 85585573
4 CEP290 NM_025114.3(CEP290): c.5710-3C> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 88465706: 88465706
5 CEP290 NM_025114.3(CEP290): c.5710-3C> G single nucleotide variant Likely pathogenic 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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