FIP1L1 gene related symptoms and diseases
All the information presented here about the FIP1L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FIP1L1 gene
Symptoms // Phenotype | % Cases |
---|---|
Leukemia | Common - Between 50% and 80% cases |
Splenomegaly | Common - Between 50% and 80% cases |
Mastocytosis | Common - Between 50% and 80% cases |
Eosinophilia | Common - Between 50% and 80% cases |
Endocardial fibrosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with FIP1L1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Myeloproliferative disorder
- Abnormality of circulating enzyme level
- Abnormal mast cell morphology
- Bone marrow hypocellularity
- Thrombocytopenia
- Anemia
- Pulmonary infiltrates
- Restrictive cardiomyopathy
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FIP1L1 gene
Here you will find a list of rare diseases related to the FIP1L1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACUTE PROMYELOCYTIC LEUKEMIA
Alternate names
ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic
Description
Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.
Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA
- Leukemia
- Acute promyelocytic leukemia
- Abnormal granulocytopoietic cell morphology
More info about ACUTE PROMYELOCYTIC LEUKEMIA
CHRONIC EOSINOPHILIC LEUKEMIA
Most common symptoms of CHRONIC EOSINOPHILIC LEUKEMIA
- Hepatomegaly
- Splenomegaly
- Myalgia
- Abnormality of the nervous system
- Pruritus
More info about CHRONIC EOSINOPHILIC LEUKEMIA
PRIMARY HYPEREOSINOPHILIC SYNDROME
Alternate names
PRIMARY HYPEREOSINOPHILIC SYNDROME Is also known as neoplastic hypereosinophilic syndrome, hes-m, primary hes, hes-n, clonal hypereosinophilic syndrome
Most common symptoms of PRIMARY HYPEREOSINOPHILIC SYNDROME
- Anemia
- Splenomegaly
- Thrombocytopenia
- Leukemia
- Bone marrow hypocellularity
More info about PRIMARY HYPEREOSINOPHILIC SYNDROME
SOURCES: ORPHANET
Search interest in FIP1L1
Potential gene panels for FIP1L1 gene
RT-PCR FIP1L1-PDGFRA Panel
By CGC Genetics RT-PCR FIP1L1-PDGFRA that also includes the following genes: FIP1L1 PDGFRA
More info about this panelFIP1L1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FIP1L1 gene.
More info about this panelOnco microarray for MDS/AML Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KIF3A SBF2 PLCZ1 GIF RLIM TNXB ARSE