MCID: FRN037
MIFTS: 22

Frontal Encephalocele malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Frontal Encephalocele

About this section
Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Frontal Encephalocele:

Name: Frontal Encephalocele 51 65
 
Anterior Encephalocele 51

Classifications:



External Ids:

Orphanet51 1931
ICD10 via Orphanet28 Q01.0
ICD1027 Q01.0
UMLS65 C0431289

Summaries for Frontal Encephalocele

About this section
MalaCards based summary: Frontal Encephalocele, also known as anterior encephalocele, is related to isolated encephalocele and cranial meningocele, and has symptoms including macrocephaly, encephalocele and hydrocephalus. Affiliated tissues include smooth muscle, skin and endothelial.

Related Diseases for Frontal Encephalocele

About this section

Graphical network of the top 20 diseases related to Frontal Encephalocele:



Diseases related to frontal encephalocele

Symptoms for Frontal Encephalocele

About this section

Symptoms:

 51 (show all 11)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • encephalocele/exencephaly
  • scalp/skull defect
  • spina bifida
  • myelomeningocele
  • hydrocephaly
  • dolichocephaly/scaphocephaly
  • hypertelorism
  • corpus callosum/septum pellucidum total/partial agenesis
  • intracranial/cerebral calcifications
  • seizures/epilepsy/absences/spasms/status epilepticus

HPO human phenotypes related to Frontal Encephalocele:

(show all 10)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 encephalocele hallmark (90%) HP:0002084
3 hydrocephalus typical (50%) HP:0000238
4 skull defect typical (50%) HP:0001362
5 myelomeningocele typical (50%) HP:0002475
6 dolichocephaly occasional (7.5%) HP:0000268
7 hypertelorism occasional (7.5%) HP:0000316
8 seizures occasional (7.5%) HP:0001250
9 cerebral calcification occasional (7.5%) HP:0002514
10 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370

Drugs & Therapeutics for Frontal Encephalocele

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Frontal Encephalocele

Genetic Tests for Frontal Encephalocele

About this section

Anatomical Context for Frontal Encephalocele

About this section

MalaCards organs/tissues related to Frontal Encephalocele:

33
Smooth muscle, Skin, Endothelial

Animal Models for Frontal Encephalocele or affiliated genes

About this section

Publications for Frontal Encephalocele

About this section

Articles related to Frontal Encephalocele:

(show all 15)
idTitleAuthorsYear
1
III-10, a newly synthesized flavonoid, induced differentiation of human U937 leukemia cells via PKCI' activation. (22266210)
2012
2
Chemokines CCL3/MIP1I+, CCL5/RANTES and CCL18/PARC are independent risk predictors of short-term mortality in patients with acute coronary syndromes. (23029252)
2012
3
Reverse chimney or periscope: some issues have to be addressed "Re: Endovascular aneurysm repair using a reverse chimney technique in a patient with Marfan syndrome and contained ruptured chronic type B dissection". (21717250)
2012
4
Protein-tyrosine phosphatase 1B modulates early endosome fusion and trafficking of Met and epidermal growth factor receptors. (22045810)
2011
5
Proteome-based epitopic peptide scanning along PSA. (19109947)
2009
6
Maternal Tgif1 regulates nodal gene expression in Xenopus. (18816846)
2008
7
Inflammatory joint disease and severe ischemia of the extremities revealing thromboangiitis obliterans in a female. (15681252)
2005
8
Simulation, experiment, and evolution: understanding nucleation in protein S6 folding. (15150413)
2004
9
UV-induced skin damage. (12821280)
2003
10
The structural basis for the transition from Ras-GTP to Ras-GDP. (12213964)
2002
11
Intercellular electrical communication among smooth muscle and endothelial cells in guinea-pig mesenteric arterioles. (11507168)
2001
12
Ribosomal protein L9: a structure determination by the combined use of X-ray crystallography and NMR spectroscopy. (9000630)
1996
13
Mitochondrial COII sequences and modern human origins. (8277847)
1993
14
Insulin induction of ornithine decarboxylase. Importance of mRNA secondary structure and phosphorylation of eucaryotic initiation factors eIF-4B and eIF-4E. (1989989)
1991
15
Glomerular injury in malignant nephrosclerosis. (740104)
1978

Variations for Frontal Encephalocele

About this section

Expression for genes affiliated with Frontal Encephalocele

About this section
Search GEO for disease gene expression data for Frontal Encephalocele.

Pathways for genes affiliated with Frontal Encephalocele

About this section

GO Terms for genes affiliated with Frontal Encephalocele

About this section

Sources for Frontal Encephalocele

About this section
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