EAF
MCID: EF001
MIFTS: 23

Eaf (EAF)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Eaf

MalaCards integrated aliases for Eaf:

Name: Eaf 52
Eosinophilic Angiocentric Fibrosis 52 58
Igg4-Related Eosinophilic Angiocentric Fibrosis 58
Sinonasal Eosinophilic Angiocentric Fibrosis 52

Characteristics:

Orphanet epidemiological data:

58
eosinophilic angiocentric fibrosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

ICD10 via Orphanet 33 J39.8
Orphanet 58 ORPHA449566

Summaries for Eaf

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

Related Diseases for Eaf

Graphical network of the top 20 diseases related to Eaf:



Diseases related to Eaf

Symptoms & Phenotypes for Eaf

Drugs & Therapeutics for Eaf

Genetic Tests for Eaf

Anatomical Context for Eaf

MalaCards organs/tissues related to Eaf:

40
Bone, Skin, Lung, Trachea

Publications for Eaf

Articles related to Eaf:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Eosinophilic Angiocentric Fibrosis in Bilateral Upper Eyelid Conjunctivas: A First Case Report. 61
32366815 2020
2
Nasal eosinophilic angiocentric fibrosis with IgG4-positive plasma cell infiltration. 61
32342944 2020
3
Does a Subset of Localized Chronic Fibrosing Vasculitis Represent Cutaneous Manifestation of IgG4-Related Disease/a Histologic Pattern of IgG4-Related Skin Disease? A Reappraisal of an Enigmatic Pathologic Entity. 61
32149838 2020
4
EOSINOPHILIC ANGIOCENTRIC FIBROSIS AS A CAUSE OF NASAL OBSTRUCTION. A CASE REPORT. 61
32370519 2020
5
Nasal Framework Reconstruction in Patient with Eosinophilic Angiocentric Fibrosis. 61
31763288 2019
6
Eosinophilic Angiocentric Fibrosis: A Review and Update of Its Association With Immunoglobulin G4-Related Disease. 61
30289267 2018
7
Eosinophilic angiocentric fibrosis : a sino-orbital masquerader. 61
30093462 2018
8
Endoscopic pericranial flap design for the restoration of nasal mid-vault lining defects. 61
29526562 2018
9
Ocular involvement in idiopathic hypertrophic pachymeningitis associated with eosinophilic angiocentric fibrosis: a case report. 61
29924200 2018
10
Image Gallery: Concomitant eosinophilic angiocentric fibrosis and granuloma faciale. 61
29897116 2018
11
An unusual presentation of eosinophilic angiocentric fibrosis. 61
29250311 2017
12
The role of biopsy in lacrimal gland inflammation: A clinicopathologic study. 61
28816552 2017
13
Right ethmoid eosinophilic angiocentric fibrosis with orbital extension. 61
28359733 2017
14
A Case Report and Systematic Review of Eosinophilic Angiocentric Fibrosis of the Paranasal Sinuses. 61
28397561 2017
15
Granuloma Faciale and Eosinophilic Angiocentric Fibrosis: Similar Entities in Different Anatomic Sites. 61
26808128 2017
16
A Concomitant Case of Orbital Granuloma Faciale and Eosinophilic Angiocentric Fibrosis. 61
27281484 2017
17
Eosinophilic Angiocentric Fibrosis as a Stenosing Lesion in the Subglottis. 61
28251006 2017
18
Non-infectious Inflammatory Lesions of the Sinonasal Tract. 61
26830405 2016
19
Eosinophilic angiocentric fibrosis of the sinonasal tract. 61
30363608 2016
20
Eosinophilic Angiocentric Fibrosis of Sinonasal Region: A Rare & Under Reported Entity. 61
26674883 2015
21
Nasal Eosinophilic Angiocentric Fibrosis with Orbital Extension. 61
25601283 2015
22
Orbital Compartment Syndrome in Eosinophilic Angiocentric Fibrosis. 61
24828962 2015
23
Optic neuropathy secondary to eosinophilic angiocentric fibrosis. 61
25232841 2015
24
IgG4 related disease of the head and neck. 61
25804380 2015
25
Chronic localized leukocytoclastic vasculitis: clinicopathological spectrum of granuloma faciale with and without extrafacial and mucosal involvement. 61
25592670 2015
26
Eosinophilic angiocentric fibrosis presenting as asymptomatic cutaneous nodules. 61
25196473 2015
27
Eosinophilic angiocentric fibrosis of the orbit: a case report and review of literature. 61
25673599 2015
28
A surgical case of eosinophilic angiocentric fibrosis of the lung. 61
26366349 2015
29
Eosinophilic angiocentric fibrosis of the nose and sinuses. 61
25399547 2014
30
Sinonasal eosinophilic angiocentric fibrosis: a systematic review. 61
25065665 2014
31
Unexplained persistent dyspnea in a young woman with eosinophilic angiocentric fibrosis. 61
24149671 2014
32
Primary orbital eosinophilic angiocentric fibrosis with intranasal extension. 61
23733241 2014
33
Eosinophilic angiocentric fibrosis of the nasal septum. 61
23634315 2013
34
IgG4-related disease in the head and neck. 61
23068303 2012
35
[Eosinophilic angiocentric fibrosis: a form of IgG4-related systemic disease?]. 61
23010402 2012
36
The latest on IgG4-RD: a rapidly emerging disease. 61
22157413 2012
37
Nasal cavity eosinophilic angiocentric fibrosis: CT and MR imaging findings. 61
21998106 2011
38
Granuloma faciale with subglottic eosinophilic angiocentric fibrosis: case report and review of the literature. 61
21916274 2011
39
[Eosinophilic angiocentric fibrosis and granuloma facial with extra facial presentation, the same pathology?]. 61
21736992 2011
40
Eosinophilic angiocentric fibrosis is a form of IgG4-related systemic disease. 61
21502911 2011
41
Eosinophilic angiocentric fibrosis of orbit. 61
21045443 2010
42
Intranasal eosinophilic angiocentric fibrosis: a case report and review. 61
20533005 2010
43
Pathology quiz case 2. Eosinophilic angiocentric fibrosis (EAF). 61
19620599 2009
44
Sinonasal eosinophilic angiocentric fibrosis: a report of four cases and review of literature. 61
20614301 2008
45
Eosinophilic angiocentric fibrosis. 61
19128662 2008
46
Eosinophilic angiocentric fibrosis of the sinonasal tract. 61
18620993 2008
47
Eosinophilic angiocentric fibrosis of the orbit. 61
18412598 2008
48
Eosinophilic angiocentric fibrosis and extrafacial granuloma faciale. 61
17927606 2007
49
Atypical eosinophilic angiocentric fibrosis on nasal septum. 61
16529899 2006
50
Eosinophilic angiocentric fibrosis. 61
16877941 2006

Variations for Eaf

Expression for Eaf

Search GEO for disease gene expression data for Eaf.

Pathways for Eaf

GO Terms for Eaf

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.73 EAF2 EAF1 AFF4 AFF3 AFF2 AFF1
2 ELL-EAF complex GO:0032783 9.43 EAF2 EAF1 AFF4 AFF3 AFF2 AFF1
3 nuclear speck GO:0016607 9.33 EAF2 EAF1 AFF2
4 transcription elongation factor complex GO:0008023 9.1 EAF2 EAF1 AFF4 AFF3 AFF2 AFF1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.56 EAF2 EAF1 AFF4 AFF1
2 transcription by RNA polymerase II GO:0006366 9.33 EAF2 EAF1 AFF4
3 regulation of gene expression GO:0010468 9.26 AFF4 AFF3 AFF2 AFF1
4 transcription elongation from RNA polymerase II promoter GO:0006368 8.8 EAF2 EAF1 AFF4

Sources for Eaf

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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