MCID: ENC008
MIFTS: 47

Encephalocele

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Encephalocele

MalaCards integrated aliases for Encephalocele:

Name: Encephalocele 52 29 6 32
Cephalocele 52 58 6
Cranium Bifidum 52
Encephaloceles 53
Bifid Cranium 52
Craniocele 52

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q01 Q01.9
ICD10 via Orphanet 33 Q01.0 Q01.1 Q01.2 more
UMLS via Orphanet 72 C0014065
Orphanet 58 ORPHA268817

Summaries for Encephalocele

NINDS : 53 Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.

MalaCards based summary : Encephalocele, also known as cephalocele, is related to occipital encephalocele and meckel syndrome, type 7. An important gene associated with Encephalocele is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs leucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and kidney, and related phenotypes are cardiovascular system and cellular

NIH Rare Diseases : 52 Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Encephaloceles are usually dramatic deformities diagnosed immediately after birth; but occasionally a small encephalocele in the nasal and forehead region can go undetected. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members.

Wikipedia : 74 Encephalocele, is a neural tube defect characterized by sac-like protrusions of the brain and the... more...

Related Diseases for Encephalocele

Diseases in the Encephalocele family:

Frontal Encephalocele Basal Encephalocele

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

(show top 50) (show all 431)
# Related Disease Score Top Affiliating Genes
1 occipital encephalocele 34.1 COL18A1 CEP290
2 meckel syndrome, type 7 31.0 B9D2 B9D1
3 meckel syndrome, type 1 30.4 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
4 meckel syndrome, type 3 30.0 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
5 meckel syndrome, type 8 29.9 TMEM67 MKS1 CC2D2A B9D2 B9D1
6 congenital hepatic fibrosis 29.7 TMEM67 CC2D2A
7 bardet-biedl syndrome 13 29.7 MKS1 CEP290
8 meckel syndrome, type 4 29.5 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
9 pathologic nystagmus 29.5 TMEM67 MKS1 CEP290
10 meckel syndrome, type 6 29.3 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
11 meckel syndrome, type 5 29.3 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
12 meckel syndrome, type 2 29.3 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
13 oligohydramnios 29.2 TMEM67 MKS1 CC2D2A
14 bardet-biedl syndrome 14 28.9 TMEM67 MKS1 CEP290 CC2D2A
15 polycystic kidney disease 4 with or without polycystic liver disease 28.2 TMEM67 MKS1 CEP290 CC2D2A B9D1
16 coloboma of macula 27.9 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
17 nephronophthisis 27.3 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
18 bardet-biedl syndrome 27.2 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
19 joubert syndrome 1 27.2 TMEM67 PIBF1 MKS1 CEP290 CC2D2A B9D2
20 frontal encephalocele 12.6
21 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.5
22 basal encephalocele 12.5
23 parietal encephalocele 12.5
24 nasal encephalocele 12.4
25 isolated encephalocele 12.3
26 laryngeal atresia, encephalocele, and limb deformities 12.3
27 encephalocele anencephaly 12.3
28 zechi-ceide syndrome 12.2
29 knobloch syndrome 12.2
30 knobloch syndrome 1 12.1
31 parietal foramina 1 12.1
32 meningoencephalocele 12.1
33 dk phocomelia syndrome 12.1
34 radiohumeral fusions with other skeletal and craniofacial anomalies 11.7
35 acromelic frontonasal dysostosis 11.6
36 hydrocephalus 11.5
37 neural tube defects 11.5
38 frontonasal dysplasia 2 11.4
39 frontonasal dysplasia 3 11.4
40 nasal glial heterotopia 11.4
41 chiari malformation 11.4
42 frontonasal dysplasia 1 11.4
43 dandy-walker syndrome 11.4
44 boomerang dysplasia 11.2
45 meckel syndrome, type 9 11.2
46 constricting bands, congenital 11.1
47 craniotelencephalic dysplasia 11.1
48 frontofacionasal dysplasia 11.1
49 orofaciodigital syndrome iv 11.1
50 roberts syndrome 11.1

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to Encephalocele

Symptoms & Phenotypes for Encephalocele

MGI Mouse Phenotypes related to Encephalocele:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 B9D1 B9D2 CC2D2A CEP290 COL18A1 MKS1
2 cellular MP:0005384 10.04 B9D1 B9D2 CC2D2A CEP290 COL18A1 MKS1
3 craniofacial MP:0005382 10.02 B9D1 B9D2 CC2D2A CEP290 COL18A1 MKS1
4 growth/size/body region MP:0005378 9.95 B9D1 B9D2 CC2D2A CEP290 MKS1 PIBF1
5 embryo MP:0005380 9.91 B9D1 B9D2 CC2D2A MKS1 PIBF1 TMEM67
6 digestive/alimentary MP:0005381 9.85 B9D1 B9D2 CC2D2A MKS1 TMEM67
7 mortality/aging MP:0010768 9.8 B9D1 B9D2 CC2D2A CEP290 MKS1 PIBF1
8 limbs/digits/tail MP:0005371 9.77 B9D1 B9D2 CC2D2A MKS1 TMEM67
9 nervous system MP:0003631 9.76 B9D1 B9D2 CC2D2A CEP290 COL18A1 MKS1
10 liver/biliary system MP:0005370 9.72 B9D1 B9D2 CEP290 MKS1 TMEM67
11 renal/urinary system MP:0005367 9.5 B9D1 B9D2 CC2D2A CEP290 COL18A1 MKS1
12 vision/eye MP:0005391 9.1 B9D1 B9D2 CC2D2A CEP290 COL18A1 MKS1

Drugs & Therapeutics for Encephalocele

Drugs for Encephalocele (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved 58-05-9 6006 143
2
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3 Liver Extracts
4 Vitamins
5 Hematinics
6 Vitamin B Complex
7 Nutrients
8 Vitamin B9
9 Folate
10 Trace Elements
11 Micronutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
2 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
3 A Prospective Longitudinal Quality of Life Study in Patients Undergoing Endoscopic Endonasal Skull Base Surgery Recruiting NCT04087902
4 Knowledge and Follow-up of Vitamin B9 Supplementation Recommendations for Women in the Periconceptional Period to Prevent Neural Tube Closure Defects: a Study Conducted With Health Professionnals and Women Who Have Just Given Birth in Rennes CHU. Recruiting NCT04195542
5 Sunnaas International Network Pediatric Spinal Cord Injury Study - an International Multicenterstudy in Seven Countries Recruiting NCT04117854

Search NIH Clinical Center for Encephalocele

Genetic Tests for Encephalocele

Genetic tests related to Encephalocele:

# Genetic test Affiliating Genes
1 Encephalocele 29

Anatomical Context for Encephalocele

MalaCards organs/tissues related to Encephalocele:

40
Brain, Bone, Kidney, Pituitary, Temporal Lobe, Heart, Liver

Publications for Encephalocele

Articles related to Encephalocele:

(show top 50) (show all 2055)
# Title Authors PMID Year
1
Rhythmic Wave Patterns on Ambient Pressure Tympanometry in Patients With Objective Tinnitus-associated Pathologies. 61
31868782 2020
2
Persistent falcine sinus with temporo-occipital schizencephaly: case report with a review of literature in relation to the undeveloped vein of Galen and/or straight sinus. 61
31154486 2020
3
A Report of Intracranial Meningioma Recurring as Ectopic Orbital Meningioma Associated With Basal Encephalocele. 61
31895728 2020
4
Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China. 61
31955435 2020
5
Prenatal diagnosis and clinical significance of cephalocoele - a single institution experience and literature review. 61
32003477 2020
6
Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Epilepsy: Systematic Review of Technique, Indications, and Outcomes. 61
31980831 2020
7
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. 61
31840411 2020
8
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
9
Commentary: Medial Temporal Encephalocele and Medically Intractable Epilepsy: A Tailored Inferior Temporal Lobectomy and Case Report. 61
31342068 2020
10
Medial Temporal Encephalocele and Medically Intractable Epilepsy: A Tailored Inferior Temporal Lobectomy and Case Report. 61
31079152 2020
11
Current management of congenital anterior cranial base encephaloceles. 61
31931391 2020
12
Early Diagnosis and Differences in Progression of Fetal Encephalocele. 61
31944319 2020
13
Cranial nerve V2 and Vidian nerve trauma secondary to lateral pterygoid recess encephalocele repair. 61
31774620 2020
14
Occipital encephalocele in a neonate: a case successfully managed by excision and formation of a reverse visor scalp flap. 61
31969420 2020
15
Anatomical implications of posterior cephaloceles in the dural venous sinuses. 61
32002608 2020
16
Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects. 61
31856916 2019
17
Occipital teratoma in a neonate with CHARGE syndrome: a case report. 61
31797071 2019
18
Diagnosis of fetal defects in twin pregnancies at routine ultrasound examination at 11-13 weeks' gestation. 61
31788879 2019
19
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
31130048 2019
20
Prenatal evaluation of the Sakoda complex. 61
31384970 2019
21
Prevalence of Asymptomatic Middle Cranial Fossa Floor Pits and Encephaloceles on MR Imaging. 61
31780461 2019
22
Contrasting Surgical Management of CSF Leak from Lateral Recess of Sphenoid Sinus and Its Surgical Outcomes: Our Experience. 61
31750115 2019
23
Role of High-Frequency Ultrasound in the Diagnosis of Atretic Cephalocele. 61
30829778 2019
24
Congenital lateral encephalocele-case report. 61
31802192 2019
25
Intrasphenoidal Encephalocele with Spontaneous Cerebrospinal Fluid Rhinorrhea in Idiopathic Intracranial Hypertension: Need for Clarity in Terminology and Imaging Delineation. 61
31491574 2019
26
Transcranial cerebellar herniation following craniotomy: Case report and literature review. 61
30679101 2019
27
Nasal Congenital Panfollicular Nevus. 61
31763229 2019
28
Concepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach. 61
31576681 2019
29
Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects. 61
31628096 2019
30
Genetic variants in GRHL3 and risk for neural tube defects: A case-control and case-parent triad/control study. 61
31332962 2019
31
A case report of triple neural tube defect: revisiting the multisite closure theory. 61
31694612 2019
32
Congenital hemangioma of the face-Value of fetal MRI with prenatal ultrasound. 61
31695833 2019
33
The relationship between external bony defects and widened lateral interorbital distance in frontoethmoidal encephalomeningocele. 61
31409529 2019
34
Diagnosis and management of spontaneous cerebrospinal fluid fistula and encephaloceles. 61
31361611 2019
35
Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI. 61
31949351 2019
36
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 61
31408229 2019
37
Characteristics of bilateral versus unilateral temporal encephalocele-associated epilepsy. 61
31176276 2019
38
Investigation of Skull-Based Cerebrospinal Fluid Leak Repair: A Single-Institution Comprehensive Study of 116 Cases Over 10 Years. 61
31604132 2019
39
Repair of a large primary subtemporal encephalocele in a 3-year-old child: case report. 61
31628278 2019
40
Giant Occipital Encephalocele in an Infant: A Surgical Challenge. 61
31908663 2019
41
Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management. 61
31656152 2019
42
Post-Traumatic Occipital Intradiploic Encephalocele. 61
31150845 2019
43
Neural Crest Cell Failure as Embryogenesis for Fusiform Aneurysm of the Anterior Communicating Artery: Case Report and Review of the Literature. 61
31203061 2019
44
Non-Midline Frontal Encephalocele Presenting as Disappearing Dermoid. 61
31756879 2019
45
Surgical Outcome in an Iniencephaly Survivor: Case Report and Review of the Literature. 61
31150861 2019
46
Audiologic Improvement Following MCF Approach for Spontaneous Cerebrospinal Fluid Leaks. 61
31157725 2019
47
A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case. 61
31184807 2019
48
Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment. 61
31635597 2019
49
Neural-Tube Defects and Antiretroviral Treatment Regimens in Botswana. 61
31329379 2019
50
Orbital and Subcutaneous Encephalocele 10 Days Following an Orbital Roof Fracture in a Child. 61
31385857 2019

Variations for Encephalocele

ClinVar genetic disease variations for Encephalocele:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CC2D2A NM_001080522.2(CC2D2A):c.4179+1deldeletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
2 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>ASNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757
3 PIBF1 NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)SNV Pathogenic 598934 rs144610914 13:73482688-73482688 13:72908550-72908550
4 PIBF1 NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)SNV Pathogenic 632607 rs911707459 13:73539496-73539496 13:72965358-72965358

Expression for Encephalocele

Search GEO for disease gene expression data for Encephalocele.

Pathways for Encephalocele

GO Terms for Encephalocele

Cellular components related to Encephalocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.88 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
2 cytoskeleton GO:0005856 9.8 TMEM67 PIBF1 MKS1 CEP290 CC2D2A B9D2
3 cilium GO:0005929 9.72 TMEM67 MKS1 CEP290 CC2D2A B9D2
4 ciliary basal body GO:0036064 9.67 MKS1 CEP290 B9D2 B9D1
5 centrosome GO:0005813 9.63 TMEM67 PIBF1 MKS1 CEP290 B9D2 B9D1
6 microtubule organizing center GO:0005815 9.61 PIBF1 MKS1 CEP290
7 centriolar satellite GO:0034451 9.46 PIBF1 CEP290
8 ciliary transition zone GO:0035869 9.43 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
9 MKS complex GO:0036038 9.1 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.63 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
2 smoothened signaling pathway GO:0007224 9.5 MKS1 CC2D2A B9D1
3 neural tube closure GO:0001843 9.49 MKS1 CC2D2A
4 determination of left/right symmetry GO:0007368 9.48 MKS1 CC2D2A
5 camera-type eye development GO:0043010 9.46 CC2D2A B9D1
6 embryonic digit morphogenesis GO:0042733 9.43 MKS1 B9D1
7 non-motile cilium assembly GO:1905515 9.43 PIBF1 MKS1 CC2D2A
8 ciliary basal body-plasma membrane docking GO:0097711 9.43 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
9 motile cilium assembly GO:0044458 9.4 MKS1 CC2D2A
10 embryonic brain development GO:1990403 9.37 MKS1 CC2D2A
11 cilium assembly GO:0060271 9.17 TMEM67 PIBF1 MKS1 CEP290 CC2D2A B9D2

Sources for Encephalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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