EOS
MCID: ESN023
MIFTS: 22

Eosinophilia, Familial (EOS)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Eosinophilia, Familial

MalaCards integrated aliases for Eosinophilia, Familial:

Name: Eosinophilia, Familial 57 13
Familial Eosinophilia 73 20 70
Eos 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
eosinophilia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 131400
MedGen 41 C0272192
UMLS 70 C0272192

Summaries for Eosinophilia, Familial

OMIM® : 57 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) (Updated 05-Apr-2021)

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

Wikipedia : 73 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 top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 blau syndrome 11.5
2 scoliosis 10.7
3 idiopathic scoliosis 10.5
4 scoliosis, isolated 1 10.4
5 cerebral palsy 10.1
6 allergic rhinitis 10.0
7 rhinitis 10.0
8 polykaryocytosis inducer 9.9
9 asthma 9.9
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
11 hydrocephalus 9.9
12 arthropathy 9.9
13 osteoarthritis 9.9
14 toxoplasmosis 9.9
15 radiation induced cancer 9.9
16 back pain 9.9
17 hair whorl 9.8
18 myelopathy, htlv-1-associated 9.8
19 protrusio acetabuli 9.8
20 neural tube defects 9.8
21 spondylolisthesis 9.8
22 trichorhinophalangeal syndrome, type i 9.8
23 body mass index quantitative trait locus 11 9.8
24 rett syndrome 9.8
25 leukemia, acute myeloid 9.8
26 body mass index quantitative trait locus 9 9.8
27 body mass index quantitative trait locus 8 9.8
28 body mass index quantitative trait locus 1 9.8
29 body mass index quantitative trait locus 4 9.8
30 body mass index quantitative trait locus 10 9.8
31 body mass index quantitative trait locus 7 9.8
32 body mass index quantitative trait locus 12 9.8
33 body mass index quantitative trait locus 14 9.8
34 gastric cancer 9.8
35 leptin deficiency or dysfunction 9.8
36 body mass index quantitative trait locus 18 9.8
37 body mass index quantitative trait locus 19 9.8
38 adult t-cell leukemia 9.8
39 inflammatory bowel disease 9.8
40 salmonellosis 9.8
41 urinary tract infection 9.8
42 neutropenia 9.8
43 leukemia 9.8
44 acute leukemia 9.8
45 quadriplegia 9.8
46 toxic shock syndrome 9.8
47 acromegaly 9.8
48 tropical spastic paraparesis 9.8
49 teratoma 9.8
50 spinal stenosis 9.8

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 pulmonary infiltrates 31 frequent (33%) HP:0002113
2 thrombocytopenia 31 occasional (7.5%) HP:0001873
3 anemia 31 HP:0001903
4 eosinophilia 31 HP:0001880
5 recurrent bronchitis 31 HP:0002837
6 myocardial eosinophilic infiltration 31 HP:0031323

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Heme:
eosinophilia

Clinical features from OMIM®:

131400 (Updated 05-Apr-2021)

Drugs & Therapeutics for Eosinophilia, Familial

Search Clinical Trials , 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:

(show all 23)
# Title Authors PMID Year
1
Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. 57 61
9758611 1998
2
Familial eosinophilia: clinical and laboratory results on a U.S. kindred. 57 61
9508242 1998
3
Disseminated eosinophilic collagenosis and familial eosinophilia. 61 57
6033105 1967
4
Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families. 57
11093275 2000
5
HEREDITARY EOSINOPHILIA: REPORT OF A FAMILY AND REVIEW OF THE LITERATURE. 57
14176021 1964
6
Disseminated visceral lesions associated with extreme eosinophilia; pathologic and clinical observations on a syndrome of young children. 57
18135516 1949
7
Dysregulation of interleukin 5 expression in familial eosinophilia. 61
28226398 2017
8
Clinical and Biological Markers in Hypereosinophilic Syndromes. 61
29312946 2017
9
Response of Complex Undefined Hypereosinophilic Syndrome to Treatment with Imatinib. 61
29404138 2016
10
Eosinophilia with organ involvement in 3 siblings. 61
23291489 2012
11
Familial eosinophilia: a benign disorder? 61
14988154 2004
12
Multiple valvar replacements for hypereosinophilic syndrome. 61
11922446 2002
13
[Familial eosinophilia: contribution of parasitology to its diagnosis]. 61
10333643 1998
14
[Hypereosinophilia of the blood. II. Classification. Benign essential hypereosinophilia. Eosinophilia caused by systemic eosinophilic hemopathies]. 61
4011004 1985
15
[Hemoglobin C associated with beta thalasemia and familial eosinophilia: study of a Chilean kindred (author's transl)]. 61
968234 1976
16
[Familial eosinophilia]. 61
4839926 1974
17
[Neonatal eczema-like dermatosis with eosinophilia. (Familial reticuloendotheliosis with eosinophilia)]. 61
5151285 1971
18
[HEREDITARY-FAMILIAL EOSINOPHILIA (COLLECTIVE REVIEW AND CASE CONTRIBUTION)]. 61
14231387 1964
19
Familial eosinophilia and splenomegaly. 61
13983596 1963
20
[Chronic familial eosinophilia. Study and personal case]. 61
13917588 1961
21
[Familial eosinophilia]. 61
13088420 1953
22
Eosinophilic leukaemia and familial eosinophilia; two illustrative cases. 61
15396964 1949
23
[A case of familial eosinophilia]. 61
18113636 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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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