MCID: EF001
MIFTS: 22

Eaf malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Eaf

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Sources:
45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Eaf:

Name: Eaf 45
Eosinophilic Angiocentric Fibrosis 45 51
 
Igg4-Related Eosinophilic Angiocentric Fibrosis 51
Sinonasal Eosinophilic Angiocentric Fibrosis 45

Classifications:



External Ids:

Orphanet51 449566
ICD10 via Orphanet28 J39.8

Summaries for Eaf

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MalaCards based summary: Eaf, also known as eosinophilic angiocentric fibrosis, is related to leopard syndrome and deafness onychodystrophy osteodystrophy and mental retardation syndrome. An important gene associated with Eaf is EAF1 (ELL Associated Factor 1). Affiliated tissues include bone, colon and liver.

Related Diseases for Eaf

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Graphical network of the top 20 diseases related to Eaf:



Diseases related to eaf

Symptoms for Eaf

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Drugs & Therapeutics for Eaf

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ApremilastPhase 158608141-41-911561674
Synonyms:
Apremilast
Apremilast (USAN)
CC-10004
 
CHEBI:558773
CHEMBL514800
CID11561674
D08860
N-[2-[1-(3-ethoxy-4-methoxy-phenyl)-2-methylsulfonyl-ethyl]-1,3-dioxo-isoindol-4-yl]acetamide
2Peripheral Nervous System AgentsPhase 118510
3Antirheumatic AgentsPhase 18496
4Anti-Inflammatory Agents, Non-SteroidalPhase 13549
5Analgesics, Non-NarcoticPhase 15184
6Anti-Inflammatory AgentsPhase 18478
7AnalgesicsPhase 19358

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study to Evaluate Pharmacokinetics of Apremilast in Heatlhy Male SubjectsCompletedNCT02236988Phase 1
2Study of Ventilatory Mechanics in Patients With Sickle Cell AnemiaCompletedNCT02565849
3Exercise and PTSD in Older VeteransRecruitingNCT02295995

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Genetic Tests for Eaf

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Anatomical Context for Eaf

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MalaCards organs/tissues related to Eaf:

33
Bone, Colon, Liver, Breast, Myeloid, Pituitary, Endothelial

Animal Models for Eaf or affiliated genes

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Publications for Eaf

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Articles related to Eaf:

(show all 38)
idTitleAuthorsYear
1
IgG4-Related Disease Presented as a Mural Mass in the Stomach. (26420251)
2015
2
ALK-negative anaplastic large cell lymphoma is sensitive to bortezomib through Noxa upregulation and release of Bax from Bcl-2. (25975837)
2015
3
Regional Bias of Intratumoral Genetic Heterogeneity of Apoptosis-Related Genes BAX, APAF1, and FLASH in Colon Cancers with High Microsatellite Instability. (25599959)
2015
4
Radiation-induced liver disease after stereotactic body radiotherapy for small hepatocellular carcinoma: clinical and dose-volumetric parameters. (24160910)
2013
5
Nodes and biological processes identified on the basis of network analysis in the brain of the senescence accelerated mice as an Alzheimer's disease animal model. (24194717)
2013
6
The contrasting epidemiology of granulomatosis with polyangiitis (Wegener's) and microscopic polyangiitis. (22258386)
2012
7
Underexpression of 4 placenta-associated microRNAs in complete hydatidiform moles. (22672989)
2012
8
Kawasaki disease: an unexpected etiology of shock and multiple organ dysfunction syndrome. (22273753)
2012
9
Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. (19799913)
2010
10
Expanding the chemistry of DNA for in vitro selection. (20201573)
2010
11
Variation in the human soluble epoxide hydrolase gene and risk of restenosis after percutaneous coronary intervention. (19814804)
2009
12
Unclassified mucin phenotype of gastric adenocarcinoma exhibits the highest invasiveness. (19175827)
2009
13
Concurrent Takayasu's arteritis and antineutrophil cytoplasmic antibody-related glomerulonephritis related to use of propylthiouracil. (19567638)
2009
14
Coordinate NF-kappaB and STAT1 activation promotes development of myeloid type 1 dendritic cells. (18261039)
2008
15
Extreme hyperphosphatemia and hypocalcemic coma associated with phosphate enema. (18379152)
2008
16
Haptoglobin gene polymorphism in type 2 diabetic patients with and without nephropathy: An Egyptian study. (17822661)
2007
17
The role of panic attacks in acute stress disorder in children. (18157894)
2007
18
Stereological quantification of nerve fibers immunoreactive to PGP 9.5, NPY, and VIP in rat prostate during postnatal development. (15716245)
2005
19
tumor suppressor p53 binds with high affinity to CTG.CAG trinucleotide repeats and induces topological alterations in mismatched duplexes. (16230356)
2005
20
GnRH antagonist-induced down-regulation of the mRNA expression of pituitary receptors: comparisons with GnRH agonist effects. (15758569)
2005
21
Necrobiotic palisading granulomas associated with breast carcinoma. (16311349)
2005
22
PECAM-1 interacts with nitric oxide synthase in human endothelial cells: implication for flow-induced nitric oxide synthase activation. (15284089)
2004
23
Orotic aciduria and plasma urea cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet. (15449570)
2004
24
Diet-dependent obesity and hypercholesterolemia in the New Zealand obese mouse: identification of a quantitative trait locus for elevated serum cholesterol on the distal mouse chromosome 5. (12727230)
2003
25
A severe epidemic of meningococcal meningitis in Nigeria, 1996. (10974995)
2000
26
Minibrain/DYRK1A gene: candidate gene for mental retardation in Down's syndrome?]. (10812554)
2000
27
The targeted deletion of the LAMC1 gene. (9917858)
1998
28
Polymerase chain reaction-based diagnosis of rhabdomyosarcomas: comparison of fetal type acetylcholine receptor subunits and myogenin. (9836066)
1998
29
Hyporeninemic hypoaldosteronism in patients with nephrotic syndrome. (9627045)
1998
30
PML is expressed in chronic graft-versus-host disease lesions. (9193756)
1997
31
Fourth ventricular ependymoma in a child with Duane retraction syndrome. (9419032)
1997
32
Fibrolamellar carcinoma of the liver: composition of the extracellular matrix and expression of cell-matrix and cell-cell adhesion molecules. (8903387)
1996
33
Tolrestat pharmacokinetic and pharmacodynamic effects on red blood cell sorbitol levels in normal volunteers and in patients with insulin-dependent diabetes. (8529328)
1995
34
Molecular cloning of the human homologue to the pig protein-tyrosine kinase syk. (8168854)
1994
35
Schistosomal colonic disease. (2110925)
1990
36
Predicting susceptibility to acute mountain sickness. (6135008)
1983
37
Histogenesis of coronary arteriosclerosis. (12979061)
1952
38

Variations for Eaf

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Expression for genes affiliated with Eaf

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Search GEO for disease gene expression data for Eaf.

Pathways for genes affiliated with Eaf

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GO Terms for genes affiliated with Eaf

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056549.1EAF1, EAF2

Sources for Eaf

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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