FLI1 gene related symptoms and diseases

All the information presented here about the FLI1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FLI1 gene

Symptoms // Phenotype % Cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Finger syndactyly Rare - less than 30% cases
Eczema Rare - less than 30% cases
Long philtrum Rare - less than 30% cases
Syndactyly Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with FLI1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Trigonocephaly
  • Pyloric stenosis
  • Intrauterine growth retardation
  • Clinodactyly
  • Low-set ears
  • Ptosis
  • Abnormal facial shape
  • Micrognathia

And 201 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to FLI1 gene

Here you will find a list of rare diseases related to the FLI1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EWING SARCOMA


Description

Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Most common symptoms of EWING SARCOMA

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


More info about EWING SARCOMA

SOURCES: OMIM ORPHANET

EXTRASKELETAL EWING SARCOMA


Alternate names

EXTRASKELETAL EWING SARCOMA Is also known as extraosseous ewing sarcoma, extraskeletal ewing tumor, eoe, extraosseous ewing tumor

Description

Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.


More info about EXTRASKELETAL EWING SARCOMA

SOURCES: ORPHANET

JACOBSEN SYNDROME


Alternate names

JACOBSEN SYNDROME Is also known as monosomy 11qter, del(11)(q23.3), distal deletion 11q, telomeric deletion 11q, distal monosomy 11q, del(11)(qter), chromosome 11q deletion syndrome, partial 11q monosomy syndrome

Description

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

Most common symptoms of JACOBSEN SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about JACOBSEN SYNDROME

SOURCES: OMIM ORPHANET

PARIS-TROUSSEAU THROMBOCYTOPENIA


Alternate names

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Description

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

Most common symptoms of PARIS-TROUSSEAU THROMBOCYTOPENIA

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

SOURCES: OMIM ORPHANET

BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21


Description

BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by Saultier et al., 2017).For a discussion of genetic heterogeneity of platelet-type bleeding disorders, see BDPLT1 (OMIM ).

Most common symptoms of BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21

  • Thrombocytopenia
  • Alopecia
  • Eczema
  • Psoriasiform dermatitis
  • Menorrhagia


More info about BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21

SOURCES: OMIM

ISOLATED DELTA-STORAGE POOL DISEASE


Alternate names

ISOLATED DELTA-STORAGE POOL DISEASE Is also known as isolated delta-spd, isolated dense-spd, isolated dense-storage pool disease

Description

Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.


More info about ISOLATED DELTA-STORAGE POOL DISEASE

SOURCES: ORPHANET

PERIPHERAL PRIMITIVE NEUROECTODERMAL TUMOR


Alternate names

PERIPHERAL PRIMITIVE NEUROECTODERMAL TUMOR Is also known as peripheral pnet, ppnet


More info about PERIPHERAL PRIMITIVE NEUROECTODERMAL TUMOR

SOURCES: ORPHANET


Potential gene panels for FLI1 gene

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Paris-Trousseau Thrombocytopenia via FLI1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FLI1 gene.

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

FLI1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FLI1 gene.

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITPR1-DT ADCY1 IBA57 SIX2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more