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.

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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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: ORPHANET OMIM

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


Potential gene panels for FIP1L1 gene

RT-PCR FIP1L1-PDGFRA Panel

Portugal.

By CGC Genetics RT-PCR FIP1L1-PDGFRA that also includes the following genes: FIP1L1 PDGFRA

More info about this panel

FIP1L1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FIP1L1 gene.

More info about this panel

Onco microarray for MDS/AML Panel

United States.

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 panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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 panel


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