STAT3 gene related symptoms and diseases

All the information presented here about the STAT3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to STAT3 gene

Symptoms // Phenotype % Cases
Recurrent infections Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Eczema Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Pruritus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with STAT3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Atopic dermatitis
  • Inflammatory abnormality of the skin
  • Immunodeficiency
  • Increased IgE level
  • Chronic otitis media
  • Eosinophilia
  • Skin ulcer
  • Lymphoma

And 140 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 STAT3 gene

Here you will find a list of rare diseases related to the STAT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


T-CELL LARGE GRANULAR LYMPHOCYTE LEUKEMIA


Alternate names

T-CELL LARGE GRANULAR LYMPHOCYTE LEUKEMIA Is also known as proliferation of large granular lymphocytes, t-lgl, t-cell lgl leukemia

Description

T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.


More info about T-CELL LARGE GRANULAR LYMPHOCYTE LEUKEMIA

SOURCES: ORPHANET

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


Alternate names

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome, hyperimmunoglobulin e syndrome type 1, ad-hies, buckley syndrome, stat3 deficiency, job syndrome, hyperimmunoglobulin e-recurrent infection syndrome, autosomal dominant hies

Description

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

Most common symptoms of AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

SOURCES: ORPHANET

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


Alternate names

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant, hyper-ige syndrome, autosomal dominant, job syndrome

Description

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

Most common symptoms of HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

SOURCES: OMIM

PERMANENT NEONATAL DIABETES MELLITUS


Alternate names

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy, pndm

Description

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

Most common symptoms of PERMANENT NEONATAL DIABETES MELLITUS

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


More info about PERMANENT NEONATAL DIABETES MELLITUS

SOURCES: ORPHANET

STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Description

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Most common symptoms of STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

SOURCES: OMIM ORPHANET

CHRONIC LYMPHOPROLIFERATIVE DISORDER OF NATURAL KILLER CELLS


Alternate names

CHRONIC LYMPHOPROLIFERATIVE DISORDER OF NATURAL KILLER CELLS Is also known as chronic nk-cell lymphocytosis, nk-cell lineage granular lymphocyte proliferative disorder, chronic nk lymphocytosis, cnkl, clpd-nk, chronic lymphoproliferative disorder of nk-cells


More info about CHRONIC LYMPHOPROLIFERATIVE DISORDER OF NATURAL KILLER CELLS

SOURCES: ORPHANET


Potential gene panels for STAT3 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Hyper IgE Syndrome (HIES): STAT3 (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the STAT3 gene.

More info about this panel

Hyper IgE Syndrome (HIES): STAT3 (known mutation) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the STAT3 gene.

More info about this panel

STAT3 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the STAT3 gene.

More info about this panel

STAT3 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the STAT3 gene.

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

PulmoGene Panel (64 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

STAT3 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the STAT3 gene.

More info about this panel

STAT3. Detection of the mutations c.1144C>T ( p.Arg382Trp), c.1145G>A ( p.Arg382Gln), c.1268G>A (p.Arg423Gln), c.1387_1389delGTG (p.Val463del) and c.1909G>A (p.Val637Met) by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the STAT3 gene.

More info about this panel

STAT3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the STAT3 gene.

More info about this panel

Humoral dysfunction Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel

Humoral dysfunction Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq Analysis that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel

Humoral dysfunction Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq + Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel

Autosomal Dominant Hyper IgE Syndrome (sequence analysis of STAT3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the STAT3 gene.

More info about this panel

Hyper-IgE syndrome (deletion/duplication analysis of STAT3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the STAT3 gene.

More info about this panel

Hyper IgE Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyper IgE Syndrome Sequencing Panel with CNV Detection that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8 PGM3

More info about this panel

Autosomal Dominant Hyper IgE Syndrome via STAT3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the STAT3 gene.

More info about this panel

Interstitial Lung Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2

More info about this panel

Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 LRBA CTLA4 MAGT1 FADD

More info about this panel

STAT3 gene Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the STAT3 gene.

More info about this panel

STAT3 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the STAT3 gene.

More info about this panel

HIES syndromes panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht HIES syndromes panel that also includes the following genes: STAT3 TYK2 DOCK8

More info about this panel

Hyper-IgE recurrent infection syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the STAT3 gene.

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

More info about this panel

Syndromes with immunodeficiency Panel Panel

Germany.

By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1

More info about this panel

Single gene testing STAT3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the STAT3 gene.

More info about this panel

Job Syndrome Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the STAT3 gene.

More info about this panel

Autosomal Dominant Hyper IgE Syndrome, STAT3 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the STAT3 gene.

More info about this panel

STAT3 SH2 and DNA Binding Sequencing Panel

United States.

By Advanced Diagnostic Laboratories (ADx) National Jewish Health

This panel specifically test the STAT3 gene.

More info about this panel

Hyper-IgE Syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the STAT3 gene.

More info about this panel

Hyperimmunoglobulin E syndrome Panel

Denmark.

By Department of Clinical Immunology Odense University Hospital

This panel specifically test the STAT3 gene.

More info about this panel

Hyper-IgE Syndrome Panel

Slovakia.

By MedGene

This panel specifically test the STAT3 gene.

More info about this panel

Invitae Hyper IgE Syndrome Panel Panel

United States.

By Invitae Invitae Hyper IgE Syndrome Panel that also includes the following genes: STAT3 SPINK5 DOCK8 PGM3

More info about this panel

Invitae Common Variable Immunodeficiency Panel Panel

United States.

By Invitae Invitae Common Variable Immunodeficiency Panel that also includes the following genes: STAT3 CD27 TNFSF12 LRBA TNFRSF13C TNFRSF13B CR2 CTLA4 ICOS IL21

More info about this panel

Invitae Monogenic Autoimmunity Panel Panel

United States.

By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2

More info about this panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT

More info about this panel

Hyper-IgE recurrent infection syndrome: STAT3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the STAT3 gene.

More info about this panel

Hyper IgE Syndromes: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hyper IgE Syndromes: Sequencing Panel that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8

More info about this panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT

More info about this panel

Hyper IgE Syndromes: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hyper IgE Syndromes: Deletion/Duplication Panel that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8

More info about this panel

STAT3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STAT3 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Interstitial Lung Disease Panel Panel

Finland.

By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT

More info about this panel

Focus::DLBCL&FL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::DLBCL&FL™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

Focus::Lymphoma™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

Autosomal dominant hyper IgE syndrome Panel

Spain.

By Bioarray

This panel specifically test the STAT3 gene.

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

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

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel

HYPER-IgE SYNDROME, JOB SYNDROME (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the STAT3 gene.

More info about this panel

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD XIAP

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Hyper IgE Syndrome (Job Syndrome), Sequencing STAT3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the STAT3 gene.

More info about this panel

Hyper IgE Syndrome (Job Syndrome), Deletions-Duplications (MLPA) STAT3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the STAT3 gene.

More info about this panel

Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel

Spain.

By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA

More info about this panel

Hyperimmunoglobulin E syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the STAT3 gene.

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

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 ADAMTS17 THSD4

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more