MCID: ENC008
MIFTS: 35

Encephalocele malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Encephalocele

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Aliases & Descriptions for Encephalocele:

Name: Encephalocele 45
Cranium Bifidum 45
Encephaloceles 46
 
Bifid Cranium 45
Cephalocele 45
Craniocele 45

Classifications:



External Ids:

ICD1027 Q01, Q01.9

Summaries for Encephalocele

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NINDS:46 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 (excessive accumulation of cerebrospinal fluid in the brain), (paralysis of the arms and legs), (abnormally small head), (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 cranium bifidum, is related to neurenteric cyst and encephalocele anencephaly. An important gene associated with Encephalocele is MKS1 (Meckel Syndrome, Type 1), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, endothelial and lung, and related mouse phenotypes are liver/biliary system and renal/urinary system.

NIH Rare Diseases:45 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. last updated: 10/21/2011

Wikipedia:68 Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized... more...

Related Diseases for Encephalocele

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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 442)
idRelated DiseaseScoreTop Affiliating Genes
1neurenteric cyst28.9ALX3, ALX4, TGIF1
2encephalocele anencephaly28.0ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
3frontal encephalocele12.5
4parietal encephalocele12.4
5basal encephalocele12.4
6isolated encephalocele12.4
7occipital encephalocele12.4
8nasal encephalocele12.4
9lethal occipital encephalocele-skeletal dysplasia syndrome12.2
10parietal foramina 112.0
11knobloch syndrome, type 111.8
12knobloch syndrome11.8
13dk phocomelia syndrome11.7
14meningoencephalocele11.6
15zechi ceide syndrome11.5
16brachial amelia, forebrain defects and facial clefts11.2
17cranial meningocele10.8
18frontonasal dysplasia 110.8
19acromelic frontonasal dysostosis10.7
20meckel syndrome 110.6
21frontonasal dysplasia 210.5
22iniencephaly10.4
23meckel syndrome 310.3
24meckel syndrome 410.3
25meckel syndrome 810.3
26meckel syndrome 910.3
27corneal dystrophy, congenital stromal10.3CEP290, TMEM67
28leukemia10.3
29breast cancer10.3
30krabbe disease10.3
31purpura fulminans10.3
32purpura10.3
33gynandroblastoma10.3
34hepatitis10.3
35prostatitis10.3
36endotheliitis10.3
37lymphoma10.3
38pancreatic agenesis10.2NPHP3, TMEM67
39obesity10.2
40retinitis10.2
41neural tube defects10.2
42meckel syndrome 1210.2
43craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies10.2
44meckel syndrome 710.2
45meckel syndrome 610.2
46orofaciodigital syndrome iv10.2
47meckel syndrome 210.2
48meckel syndrome 510.2
49meckel syndrome 1110.2
50meckel syndrome 1010.2

Graphical network of the top 20 diseases related to Encephalocele:



Diseases related to encephalocele

Symptoms for Encephalocele

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Drugs & Therapeutics for Encephalocele

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Interventional clinical trials:

idNameStatusNCT IDPhase
1UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
2Management Following Lumbar Puncture In ChildrenNot yet recruitingNCT02590718
3Optimization Lumbar Puncture In ChildrenWithdrawnNCT02454894

Search NIH Clinical Center for Encephalocele

Genetic Tests for Encephalocele

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Anatomical Context for Encephalocele

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MalaCards organs/tissues related to Encephalocele:

33
Brain, Endothelial, Lung, Bone, Breast, Colon, Liver

Animal Models for Encephalocele or affiliated genes

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MGI Mouse Phenotypes related to Encephalocele:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:00053678.6B9D1, CC2D2A, CEP290, COL18A1, MKS1, NPHP3
3MP:00053887.9ALX3, ALX4, B9D2, CEP290, CYP26B1, MKS1
4MP:00053817.5ALX3, ALX4, B9D1, B9D2, CC2D2A, MKS1
5MP:00053856.6B9D1, CC2D2A, CEP290, COL18A1, CYP26B1, MKS1
6MP:00053806.3ALX3, ALX4, B9D1, CC2D2A, CYP26B1, MKS1
7MP:00053716.1ALX3, ALX4, B9D1, B9D2, CC2D2A, CYP26B1
8MP:00053906.0ALX3, ALX4, B9D1, CEP290, COL18A1, CYP26B1
9MP:00053845.9ALX3, B9D1, B9D2, CC2D2A, CEP290, COL18A1
10MP:00053915.5ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
11MP:00053785.5ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
12MP:00036315.2ALX3, ALX4, B9D1, CC2D2A, CEP290, COL18A1
13MP:00107685.2ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290
14MP:00053825.1ALX3, ALX4, B9D1, B9D2, CC2D2A, CEP290

Publications for Encephalocele

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Articles related to Encephalocele:

(show top 50)    (show all 649)
idTitleAuthorsYear
1
Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease. (26902324)
2016
2
PTEN status mediates 2ME2 anti-tumor efficacy in preclinical glioblastoma models: role of HIF1I+ suppression. (24162827)
2014
3
Progressive bilateral ptosis in a patient with midbrain metastasis and chronic inflammatory demyelinating polyradiculoneuropathy. (24594646)
2014
4
Accuracy of MRI compared with ultrasound imaging and selective use of CT to discriminate simple from perforated appendicitis. (24272981)
2014
5
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. (23921535)
2014
6
Paraphenylenediamine dye allergic contact dermatitis of mustache region manifesting as prurigo nodularis-like lesions. (24603506)
2014
7
Intact Choledochal Cyst with Spontaneous Common Hepatic Duct Perforation: A Spectrum of Congenital Biliary Canal Defects? (23343939)
2013
8
Stem cell origin of testicular seminoma. (23850550)
2013
9
Differences in omega-3 and fatty acid profiles between patients with endometriosis and those with a functional ovarian cyst. (23919858)
2013
10
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. (23193487)
2012
11
Bilateral viral retinitis in a patient with immune deficiency because of purine nucleoside phosphorylase deficiency. (25390949)
2012
12
Validation of a quality-of-life scale for women with bladder pain syndrome/interstitial cystitis. (22146841)
2012
13
III-10, a newly synthesized flavonoid, induced differentiation of human U937 leukemia cells via PKCI' activation. (22266210)
2012
14
APP mutations in the AI^ coding region are associated with abundant cerebral deposition of AI^38. (23143229)
2012
15
Contribution of decreased expression of Ku70 to enhanced radiosensitivity by sodium butyrate in glioblastoma cell line (U251). (21671178)
2011
16
Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role? (21890420)
2011
17
A genomewide linkage scan of cocaine dependence and major depressive episode in two populations. (21849985)
2011
18
Nonmotor presentations of multiple system atrophy. (21343894)
2011
19
Ochronosis of hip joint; a case report. (20062596)
2009
20
Effects of the antipsychotic drug haloperidol on the somastostatinergic system in SH-SY5Y neuroblastoma cells. (19457089)
2009
21
The BBSome. (19549489)
2009
22
Influenza viruses with reduced sensitivity to the neuraminidase inhibitor drugs in untreated young children. (18522305)
2008
23
Altered glial cell line-derived neurotrophic factor (GDNF) concentrations in the brain of patients with depressive disorder: a comparative post-mortem study. (18760907)
2008
24
Inflammatory joint disease and severe ischemia of the extremities revealing thromboangiitis obliterans in a female. (15681252)
2005
25
Treatment of antisynthetase-associated interstitial lung disease with tacrolimus. (16052580)
2005
26
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. (12970262)
2003
27
Selective apoptosis in HeLa cells induced by sodium butyrate and its mechanism]. (12974082)
2003
28
Colored photisms prevent object-substitution masking in digit-color synesthesia. (12030516)
2002
29
Developmental expression of catenins and associated proteins during submucosal gland morphogenesis in the airway. (11258801)
2001
30
Lower serum activity of prolyl endopeptidase in anorexia and bulimia nervosa. (11070331)
2001
31
Interleukin-12-related cytokine gene expression in carcinomas of the breast, lung, and larynx: a study at tissue level. (11129984)
2000
32
Targeting and translocation of endothelial nitric oxide synthase. (10559837)
1999
33
Coronary artery aneurysm after stent implantation. (10481393)
1999
34
Aldehyde dehydrogenase (CoA-acetylating) and the mechanism of ethanol formation in the amitochondriate protist, Giardia lamblia. (9633598)
1998
35
NADPH-initiated cytochrome P450-dependent free iron-independent microsomal lipid peroxidation: specific prevention by ascorbic acid. (9046019)
1997
36
Nitric oxide induces heat-shock protein 70 expression in vascular smooth muscle cells via activation of heat shock factor 1. (9276725)
1997
37
BMP-1: resurrection as procollagen C-proteinase. (8560258)
1996
38
The role of the oxidative state of glutathione and glutathione-related enzymes in anemia of hemodialysis patients. (8939405)
1996
39
High frequency of p16 (CDKN2/MTS-1/INK4A) inactivation in head and neck squamous cell carcinoma. (8705996)
1996
40
A case of primary hypothyroidism with pituitary enlargement and abnormal secretion of growth hormone and prolactin]. (7750626)
1995
41
Elevated immunoreactive endothelin levels in patients with pheochromocytoma. (7986462)
1994
42
Prospective randomized study comparing three surgical techniques for the treatment of gastric outlet obstruction secondary to duodenal ulcer. (8101050)
1993
43
Psychogenic urinary retention (Hinman syndrome) in a child. (1472168)
1992
44
X-linked ichthyosis and cryptorchidism. (2874061)
1986
45
Encephalomalacia in the distribution of the posterior cerebral and superior cerebellar arteries: the CT and radionuclide examination. (6260502)
1981
46
Glomerular injury in malignant nephrosclerosis. (740104)
1978
47
Traditional chinese medicine in the treatment of thromboangiitis obliterans. Report of 136 cases. (5678364)
1968
48
Afibrinogenemia; etiology and management. A review of the literature. (14492342)
1962
49
AMMONIA metabolism and hepatic coma. (13407086)
1957
50

Variations for Encephalocele

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Expression for genes affiliated with Encephalocele

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Search GEO for disease gene expression data for Encephalocele.

Pathways for genes affiliated with Encephalocele

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GO Terms for genes affiliated with Encephalocele

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

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:000581410.1CEP290, MKS1
2ciliary transition zoneGO:00358699.9B9D2, CEP290, MKS1
3TCTN-B9D complexGO:00360388.4B9D1, B9D2, MKS1, TCTN2, TMEM216, TMEM231

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1embryonic brain developmentGO:199040310.4CC2D2A, MKS1
2olfactory bulb developmentGO:002177210.3KIF14, RPGRIP1L
3nonmotile primary cilium assemblyGO:003505810.3CC2D2A, MKS1
4camera-type eye developmentGO:004301010.3CC2D2A, RPGRIP1L
5limb morphogenesisGO:003510810.1ALX4, RPGRIP1L
6cilium assemblyGO:00423849.8B9D1, RPGRIP1L
7determination of left/right symmetryGO:00073689.7CC2D2A, MKS1, NPHP3, RPGRIP1L
8pattern specification processGO:00073899.2ALX3, ALX4
9embryonic forelimb morphogenesisGO:00351158.7ALX3, ALX4, RPGRIP1L
10cilium morphogenesisGO:00602718.6B9D1, CC2D2A, CEP290, MKS1, NPHP3, TCTN2
11organelle organizationGO:00069968.5B9D2, CC2D2A, NPHP3, RPGRIP1L, TCTN3, TMEM67

Sources for Encephalocele

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet