MCID: ESN023
MIFTS: 17

Eosinophilia, Familial

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Eosinophilia, Familial

MalaCards integrated aliases for Eosinophilia, Familial:

Name: Eosinophilia, Familial 54 13
Familial Eosinophilia 50 69

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
eosinophilia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 131400
SNOMED-CT via HPO 65 263681008

Summaries for Eosinophilia, Familial

OMIM : 54
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 acute lymphocytic leukemia and eosinophilic pneumonia, and has symptoms including eosinophilia An important gene associated with Eosinophilia, Familial is EOS (Eosinophilia, Familial). The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include lung and neutrophil.

Related Diseases for Eosinophilia, Familial

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

id Related Disease Score Top Affiliating Genes
1 acute lymphocytic leukemia 9.5
2 eosinophilic pneumonia 9.5
3 splenomegaly 9.5

Symptoms & Phenotypes for Eosinophilia, Familial

Symptoms via clinical synopsis from OMIM:

54

Heme:
eosinophilia


Clinical features from OMIM:

131400

Human phenotypes related to Eosinophilia, Familial:

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

Drugs & Therapeutics for Eosinophilia, Familial

Drugs for Eosinophilia, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 3
2 Antibodies, Monoclonal Phase 3
3 Immunoglobulins Phase 3
4 Vaccines Phase 3
5 Imatinib Mesylate Phase 2 123596
6 Protein Kinase Inhibitors Phase 2
7
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
2 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3 canakinumab
3 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
4 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3 ACZ885
5 Study of STI571 in the Treatment of Patients With Idiopathic Hypereosinophilic Syndrome (HES) and Eosinophilic Leukemias Unknown status NCT00276926 Phase 2 STI571
6 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
7 The Factors Associated With the Formation of Nasal polyp-a Case Control and Descriptive Study Unknown status NCT01278719
8 Evaluation of Nasal Mucosal Permeability in Controls and House Dust Mite Allergic Rhinitis Patients Completed NCT02461797
9 A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression Recruiting NCT00091871
10 Activation and Function of Eosinophils in Conditions With Blood or Tissue Eosinophilia Recruiting NCT00001406
11 Lung Fluid and Peripheral Blood Neutrophil IL-5 Surface Receptor in Children With Asthma Recruiting NCT02866487
12 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
13 Genetic Study of Familial Forms of Non-atopic Asthma Not yet recruiting NCT02911220

Search NIH Clinical Center for Eosinophilia, Familial

Genetic Tests for Eosinophilia, Familial

Anatomical Context for Eosinophilia, Familial

MalaCards organs/tissues related to Eosinophilia, Familial:

39
Lung, Neutrophil

Publications for Eosinophilia, Familial

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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