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 75 53 72
Eos 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
eosinophilia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 131400
MedGen 42 C0272192
UMLS 72 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)

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

Wikipedia : 75 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:

(showing 81, show less)
# Related Disease Score Top Affiliating Genes
1 blau syndrome 12.1
2 exogenous ochronosis 11.4
3 omenn syndrome 11.2
4 scoliosis 10.8
5 idiopathic scoliosis 10.6
6 scoliosis, isolated 1 10.5
7 prostate cancer 10.3
8 cerebral palsy 10.2
9 rare disease in surgical orthopedic 10.2
10 allergic rhinitis 10.2
11 rhinitis 10.2
12 polykaryocytosis inducer 10.1
13 varicose veins 10.1
14 autism 10.1
15 adenocarcinoma 10.1
16 toxoplasmosis 10.1
17 radiation induced cancer 10.1
18 brain injury 10.1
19 traumatic brain injury 10.1
20 hypereosinophilic syndrome 10.1
21 hair whorl 9.9
22 protrusio acetabuli 9.9
23 trichorhinophalangeal syndrome, type i 9.9
24 proteasome-associated autoinflammatory syndrome 1 9.9
25 rett syndrome 9.9
26 asthma 9.9
27 leukemia, acute myeloid 9.9
28 dermatitis, atopic 9.9
29 hypereosinophilic syndrome, idiopathic 9.9
30 leukemia, chronic myeloid 9.9
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
32 leptin deficiency or dysfunction 9.9
33 au-kline syndrome 9.9
34 inflammatory bowel disease 9.9
35 salmonellosis 9.9
36 pre-eclampsia 9.9
37 hydrocephalus 9.9
38 hemiplegia 9.9
39 respiratory failure 9.9
40 esophageal varix 9.9
41 disseminated intravascular coagulation 9.9
42 neutropenia 9.9
43 locked-in syndrome 9.9
44 quadriplegia 9.9
45 dementia 9.9
46 acute cystitis 9.9
47 eclampsia 9.9
48 toxic shock syndrome 9.9
49 contact dermatitis 9.9
50 severe acute respiratory syndrome 9.9
51 teratoma 9.9
52 breast adenocarcinoma 9.9
53 arthropathy 9.9
54 hemoglobinuria 9.9
55 spinal stenosis 9.9
56 osteoarthritis 9.9
57 measles 9.9
58 vasculitis 9.9
59 hard palate cancer 9.9
60 taylor's syndrome 9.9
61 hemophilia 9.9
62 trichorhinophalangeal syndrome 9.9
63 allergic encephalomyelitis 9.9
64 congenital hydrocephalus 9.9
65 pituitary stalk interruption syndrome 9.9
66 slipped capital femoral epiphysis 9.9
67 hypotonia 9.9
68 wiskott-aldrich syndrome 9.6
69 cysticercosis 9.6
70 strongyloidiasis 9.6
71 trichostrongyloidiasis 9.6
72 anisakiasis 9.6
73 fascioliasis 9.6
74 trichinosis 9.6
75 cytokine deficiency 9.6
76 distomatosis 9.6
77 splenomegaly 9.6
78 urticaria 9.6
79 angioedema 9.6
80 dermatitis 9.6
81 reticuloendotheliosis 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:

32 (showing 6, show less)
# Description HPO Frequency HPO Source Accession
1 pulmonary infiltrates 32 frequent (33%) HP:0002113
2 thrombocytopenia 32 occasional (7.5%) HP:0001873
3 anemia 32 HP:0001903
4 eosinophilia 32 HP:0001880
5 recurrent bronchitis 32 HP:0002837
6 myocardial eosinophilic infiltration 32 HP:0031323

Symptoms via clinical synopsis from OMIM:

57
Heme:
eosinophilia

Clinical features from OMIM:

131400

Drugs & Therapeutics for Eosinophilia, Familial

Interventional clinical trials:

(showing 1, show less)
# 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:

(showing 23, show less)
# Title Authors PMID Year
1
Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. 38 8
9758611 1998
2
Familial eosinophilia: clinical and laboratory results on a U.S. kindred. 38 8
9508242 1998
3
Disseminated eosinophilic collagenosis and familial eosinophilia. 38 8
6033105 1967
4
Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families. 8
11093275 2000
5
HEREDITARY EOSINOPHILIA: REPORT OF A FAMILY AND REVIEW OF THE LITERATURE. 8
14176021 1964
6
Disseminated visceral lesions associated with extreme eosinophilia; pathologic and clinical observations on a syndrome of young children. 8
18135516 1949
7
Dysregulation of interleukin 5 expression in familial eosinophilia. 38
28226398 2017
8
Clinical and Biological Markers in Hypereosinophilic Syndromes. 38
29312946 2017
9
Response of Complex Undefined Hypereosinophilic Syndrome to Treatment with Imatinib. 38
29404138 2016
10
Eosinophilia with organ involvement in 3 siblings. 38
23291489 2012
11
Familial eosinophilia: a benign disorder? 38
14988154 2004
12
Multiple valvar replacements for hypereosinophilic syndrome. 38
11922446 2002
13
[Familial eosinophilia: contribution of parasitology to its diagnosis]. 38
10333643 1998
14
[Hypereosinophilia of the blood. II. Classification. Benign essential hypereosinophilia. Eosinophilia caused by systemic eosinophilic hemopathies]. 38
4011004 1985
15
[Hemoglobin C associated with beta thalasemia and familial eosinophilia: study of a Chilean kindred (author's transl)]. 38
968234 1976
16
[Familial eosinophilia]. 38
4839926 1974
17
[Neonatal eczema-like dermatosis with eosinophilia. (Familial reticuloendotheliosis with eosinophilia)]. 38
5151285 1971
18
[HEREDITARY-FAMILIAL EOSINOPHILIA (COLLECTIVE REVIEW AND CASE CONTRIBUTION)]. 38
14231387 1964
19
Familial eosinophilia and splenomegaly. 38
13983596 1963
20
[Chronic familial eosinophilia. Study and personal case]. 38
13917588 1961
21
[Familial eosinophilia]. 38
13088420 1953
22
Eosinophilic leukaemia and familial eosinophilia; two illustrative cases. 38
15396964 1949
23
[A case of familial eosinophilia]. 38
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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