EOS
MCID: ESN023
MIFTS: 23

Eosinophilia, Familial (EOS)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Eosinophilia, Familial

MalaCards integrated aliases for Eosinophilia, Familial:

Name: Eosinophilia, Familial 58 13
Familial Eosinophilia 77 54 74
Eos 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
eosinophilia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 131400
MedGen 43 C0272192
UMLS 74 C0272192

Summaries for Eosinophilia, Familial

OMIM : 58 Familial eosinophilia is a rare autosomal dominant disorder characterized by peripheral hypereosinophilia (greater than 500 eosinophils/micro liter of blood) with or without other oragn involvement (summary by Rioux et al., 1998). (131400)

MalaCards based summary : Eosinophilia, Familial, also known as familial eosinophilia, is related to blau syndrome and omenn syndrome. An important gene associated with Eosinophilia, Familial is EOS (Eosinophilia, Familial). Related phenotypes are pulmonary infiltrates and thrombocytopenia

Wikipedia : 77 Familial eosinophilia is a rare congenital disorder characterized by the presence of sustained... more...

Related Diseases for Eosinophilia, Familial

Diseases related to Eosinophilia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 blau syndrome 11.9
2 omenn syndrome 11.1
3 scoliosis 10.6
4 idiopathic scoliosis 10.5
5 scoliosis, isolated 1 10.4
6 prostate cancer 10.2
7 asthma 10.2
8 polykaryocytosis inducer 9.9
9 ichthyosis prematurity syndrome 9.9
10 cerebral palsy 9.9
11 hydrocephalus 9.9
12 spinal stenosis 9.9
13 extrapulmonary tuberculosis 9.9
14 salmonellosis 9.9
15 pre-eclampsia 9.9
16 sarcoma 9.9
17 eclampsia 9.9
18 severe acute respiratory syndrome 9.9
19 adenocarcinoma 9.9
20 breast adenocarcinoma 9.9
21 rhinitis 9.9
22 taylor's syndrome 9.9
23 hemophilia 9.9
24 congenital hydrocephalus 9.9
25 slipped capital femoral epiphysis 9.9
26 splenomegaly 9.6
27 hypereosinophilic syndrome 9.6

Graphical network of the top 20 diseases related to Eosinophilia, Familial:



Diseases related to Eosinophilia, Familial

Symptoms & Phenotypes for Eosinophilia, Familial

Human phenotypes related to Eosinophilia, Familial:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 pulmonary infiltrates 33 frequent (33%) HP:0002113
2 thrombocytopenia 33 occasional (7.5%) HP:0001873
3 anemia 33 HP:0001903
4 eosinophilia 33 HP:0001880
5 recurrent bronchitis 33 HP:0002837
6 myocardial eosinophilic infiltration 33 HP:0031323

Symptoms via clinical synopsis from OMIM:

58
Heme:
eosinophilia

Clinical features from OMIM:

131400

Drugs & Therapeutics for Eosinophilia, Familial

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression Recruiting NCT00091871

Search NIH Clinical Center for Eosinophilia, Familial

Genetic Tests for Eosinophilia, Familial

Anatomical Context for Eosinophilia, Familial

Publications for Eosinophilia, Familial

Articles related to Eosinophilia, Familial:

# Title Authors Year
1
Dysregulation of interleukin 5 expression in familial eosinophilia. ( 28226398 )
2017
2
Familial eosinophilia: a benign disorder? ( 14988154 )
2004
3
Familial eosinophilia: clinical and laboratory results on a U.S. kindred. ( 9508242 )
1998
4
Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. ( 9758611 )
1998
5
Disseminated eosinophilic collagenosis and familial eosinophilia. ( 6033105 )
1967
6
Familial eosinophilia and splenomegaly. ( 13983596 )
1963
7
Eosinophilic leukaemia and familial eosinophilia; two illustrative cases. ( 15396964 )
1949

Variations for Eosinophilia, Familial

Expression for Eosinophilia, Familial

Search GEO for disease gene expression data for Eosinophilia, Familial.

Pathways for Eosinophilia, Familial

GO Terms for Eosinophilia, Familial

Sources for Eosinophilia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....