MCID: ESN023
MIFTS: 20

Eosinophilia, Familial

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Eosinophilia, Familial

MalaCards integrated aliases for Eosinophilia, Familial:

Name: Eosinophilia, Familial 57 13
Familial Eosinophilia 76 53 73
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
SNOMED-CT via HPO 69 263681008
UMLS 73 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 scoliosis. An important gene associated with Eosinophilia, Familial is EOS (Eosinophilia, Familial). Related phenotype is eosinophilia.

Wikipedia : 76 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 16)
# Related Disease Score Top Affiliating Genes
1 blau syndrome 11.8
2 scoliosis 10.3
3 scoliosis, isolated 1 10.2
4 idiopathic scoliosis 10.2
5 prostate cancer 10.0
6 asthma 9.8
7 spinal stenosis 9.8
8 extrapulmonary tuberculosis 9.8
9 salmonellosis 9.8
10 sarcoma 9.8
11 parametritis 9.8
12 adenocarcinoma 9.8
13 breast adenocarcinoma 9.8
14 hemophilia 9.8
15 slipped capital femoral epiphysis 9.8
16 splenomegaly 9.5

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



Diseases related to Eosinophilia, Familial

Symptoms & Phenotypes for Eosinophilia, Familial

Symptoms via clinical synopsis from OMIM:

57
Heme:
eosinophilia


Clinical features from OMIM:

131400

Human phenotypes related to Eosinophilia, Familial:

32
# Description HPO Frequency HPO Source Accession
1 eosinophilia 32 HP:0001880

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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