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 53 13
Familial Eosinophilia 72 49 69
Eos 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
eosinophilia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 131400
MedGen 39 C0272192
SNOMED-CT via HPO 65 263681008
UMLS 69 C0272192

Summaries for Eosinophilia, Familial

OMIM : 53 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, and has symptoms including eosinophilia An important gene associated with Eosinophilia, Familial is EOS (Eosinophilia, Familial).

Wikipedia : 72 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 17)
# Related Disease Score Top Affiliating Genes
1 blau syndrome 11.8
2 omenn syndrome 10.9
3 scoliosis, isolated 1 10.1
4 scoliosis 10.1
5 idiopathic scoliosis 10.1
6 prostate cancer 10.0
7 asthma 9.8
8 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 9.8
9 mycobacterium tuberculosis 1 9.8
10 spinal stenosis 9.8
11 extrapulmonary tuberculosis 9.8
12 salmonellosis 9.8
13 sarcoma 9.8
14 adenocarcinoma 9.8
15 breast adenocarcinoma 9.8
16 hemophilia 9.8
17 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:

53
Heme:
eosinophilia


Clinical features from OMIM:

131400

Human phenotypes related to Eosinophilia, Familial:

31
# Description HPO Frequency HPO Source Accession
1 eosinophilia 31 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
Familial eosinophilia: a benign disorder? ( 14988154 )
2004
2
Familial eosinophilia: clinical and laboratory results on a U.S. kindred. ( 9508242 )
1998
3
Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. ( 9758611 )
1998
4
Disseminated eosinophilic collagenosis and familial eosinophilia. ( 6033105 )
1967
5
Familial eosinophilia and splenomegaly. ( 13983596 )
1963
6
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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