MCID: OCC011
MIFTS: 27

Occipital Encephalocele

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Occipital Encephalocele

MalaCards integrated aliases for Occipital Encephalocele:

Name: Occipital Encephalocele 58 54 6 32

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q01.2
ICD10 via Orphanet 33 Q01.2
UMLS via Orphanet 71 C0014067
Orphanet 58 ORPHA268823

Summaries for Occipital Encephalocele

MalaCards based summary : Occipital Encephalocele is related to meckel syndrome, type 3 and encephalocele. An important gene associated with Occipital Encephalocele is CEP290 (Centrosomal Protein 290). Affiliated tissues include cerebellum, heart and placenta, and related phenotypes are cardiovascular system and craniofacial

Related Diseases for Occipital Encephalocele

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 3 31.4 TCTN3 CEP290
2 encephalocele 31.2 DNAI3 COL18A1 CEP290
3 coloboma of macula 29.4 TCTN3 CEP290
4 neural tube defects 29.3 DACT1 CYP26B1 CEP290
5 knobloch syndrome 1 11.6
6 knobloch syndrome 11.6
7 meckel syndrome, type 1 11.5
8 radiohumeral fusions with other skeletal and craniofacial anomalies 11.4
9 dandy-walker syndrome 11.3
10 orofaciodigital syndrome iv 11.1
11 meckel syndrome, type 4 11.1
12 meckel syndrome 13 11.1
13 hydrocephalus 10.4
14 microcephaly 10.3
15 joubert syndrome 1 10.2
16 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
17 polymicrogyria 10.2
18 isolated encephalocele 10.2
19 cranial meningocele 10.2
20 myelomeningocele 10.2
21 chromosomal triplication 10.2
22 cleft palate, isolated 10.1
23 achondrogenesis, type ia 10.1
24 hydrocephalus, congenital, 1 10.1
25 schizencephaly 10.1
26 polydactyly 10.1
27 achondrogenesis 10.1
28 meningocele 10.1
29 mature teratoma 10.1
30 situs inversus 10.1
31 cerebrospinal fluid leak 10.1
32 meningoencephalocele 10.1
33 hydromyelia 10.1
34 hypotonia 10.1
35 seizure disorder 10.1
36 pathologic nystagmus 10.0 COL18A1 CEP290
37 pfeiffer syndrome 9.9
38 macroglossia 9.9
39 neurofibromatosis, type i 9.9
40 retinal detachment 9.9
41 tetralogy of fallot 9.9
42 renal hypodysplasia/aplasia 1 9.9
43 vesicoureteral reflux 1 9.9
44 corpus callosum, agenesis of 9.9
45 hydrops fetalis, nonimmune 9.9
46 macrocephaly/megalencephaly syndrome, autosomal recessive 9.9
47 pulmonary hypoplasia, primary 9.9
48 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 9.9
49 yemenite deaf-blind hypopigmentation syndrome 9.9
50 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 9.9

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 9.35 CEP290 COL18A1 CYP26B1 DACT1 TCTN3
2 craniofacial MP:0005382 8.92 CEP290 COL18A1 CYP26B1 TCTN3

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:

40
Cerebellum, Heart, Placenta

Publications for Occipital Encephalocele

Articles related to Occipital Encephalocele:

(show top 50) (show all 306)
# Title Authors PMID 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. 61 6
29285825 2018
2
Physiological role of collagen XVIII and endostatin. 54 61
15857886 2005
3
Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report. 61
33789317 2021
4
Endoscopic Third Ventriculostomy in Infants Less than One Year of Age: A Short Series of 14 Cases. 61
33652442 2021
5
Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature. 61
33404715 2021
6
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. 61
33791682 2021
7
Two novel TCTN2 mutations cause Meckel-Gruber syndrome. 61
32655147 2020
8
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children. 61
33238767 2020
9
Giant Occipital Encephalocele - Challenges in Management. 61
33487942 2020
10
Spontaneous external rupture of hydrocephalus after fontanelle closure: a case report and review of literature. 61
33025149 2020
11
Fetal surgery for occipital encephalocele. 61
32916650 2020
12
Quadrigeminal arachnoid cyst with perinatal encephalocele. 61
32328704 2020
13
Multiple Neural Tube Defects: A Case Report. 61
32350236 2020
14
Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management. 61
31656152 2020
15
Occipital encephalocele in a neonate: a case successfully managed by excision and formation of a reverse visor scalp flap. 61
31969420 2020
16
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. 61
31840411 2020
17
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
31130048 2019
18
Giant Occipital Encephalocele in an Infant: A Surgical Challenge. 61
31908663 2019
19
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. 61
31311558 2019
20
"Cable Suturing Technique" a Dural Obliteration Method for the Prevention of Cerebellar Herniation through a Large Occipital Meningocele. 61
31497162 2019
21
Do we need to scan the whole neuraxis for coexistent abnormalities in children with surgically treated occult spinal dysraphism? 61
31083790 2019
22
Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome. 61
30617574 2019
23
An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. 61
30726525 2019
24
Giant Occipital Encephalocele with Chiari Malformation Type 3. 61
30271061 2018
25
A Brief Review of Giant Occipital Encephalocele. 61
30271032 2018
26
Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Patient with Dandy-Walker Malformation. 61
29890274 2018
27
Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration. 61
29962502 2018
28
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. 61
29337005 2018
29
Neurosurgical Interventions for Occipital Encephalocele. 61
29682014 2018
30
The newer classifications of the chiari malformations with clarifications: An anatomical review. 61
29344999 2018
31
Meckel Gruber syndrome associated with anencephaly-an unusual reported case. 61
29479449 2018
32
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin. 61
29360170 2018
33
Migration of ventriculoperitoneal shunt to urethral and rectal orifices. 61
29122895 2017
34
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 61
28295209 2017
35
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case. 61
28620746 2017
36
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. 61
28602933 2017
37
A Giant Occipital Encephalocele in Neonate with Spontaneous Hemorrhage into the Encephalocele Sac: Surgical Management. 61
29204205 2017
38
Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation. 61
28593008 2017
39
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype. 61
28374938 2017
40
Mortality in Joubert syndrome. 61
28371402 2017
41
Giant Occipital Meningoencephalocele in a Neonate: A Therapeutic Challenge. 61
28553380 2017
42
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 61
27449316 2016
43
Managing tracheal extubation in infants with stridor and congenital neuraxial anomalies. 61
28217159 2016
44
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 61
27208211 2016
45
Molecular and Clinical Findings in Patients With Knobloch Syndrome. 61
27259167 2016
46
Successful Treatment of Large Occipital Encephalocele Presenting with Bilateral Vocal Cord Paralysis: A Case Report. 61
29901361 2016
47
Primary Occipital Encephalocele in an Elderly Patient. 61
26999692 2016
48
Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele. 61
26876766 2016
49
[Trapped temporal horn, an unusual form of obstructive hydrocephalus: 5 case-reports]. 61
26701318 2016
50
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. 61
27200165 2016

Variations for Occipital Encephalocele

ClinVar genetic disease variations for Occipital Encephalocele:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP290 NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) SNV Pathogenic 217635 rs376493409 GRCh37: 12:88476938-88476938
GRCh38: 12:88083161-88083161
2 CEP290 NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) SNV Pathogenic 217626 rs539400286 GRCh37: 12:88479860-88479860
GRCh38: 12:88086083-88086083
3 DNAI3 NC_000001.10:g.85569702_85585573del Deletion Likely pathogenic 428608 GRCh37: 1:85569702-85585573
GRCh38: 1:85104020-85119891
4 CEP290 NM_025114.4(CEP290):c.5710-3C>G SNV Likely pathogenic 523535 rs1555202126 GRCh37: 12:88465706-88465706
GRCh38: 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 ciliary basal body-plasma membrane docking GO:0097711 8.62 TCTN3 CEP290

Sources for Occipital Encephalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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