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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in STAT3

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

STAT3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to STAT3 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to STAT3 gene

T-CELL LARGE GRANULAR LYMPHOCYTE LEUKEMIA

Alternate names

Description

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Alternate names

Description

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

PERMANENT NEONATAL DIABETES MELLITUS

Alternate names

Description

Most common symptoms of PERMANENT NEONATAL DIABETES MELLITUS

STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Description

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

CHRONIC LYMPHOPROLIFERATIVE DISORDER OF NATURAL KILLER CELLS

Alternate names

Search interest in STAT3

Potential gene panels for STAT3 gene

MitoMet®Plus aCGH Analysis Panel

Comprehensive Pulmonary Panel Panel

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

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

STAT3 Deletion/duplication analysis Panel

STAT3 Sequencing Panel

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

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

PulmoGene Panel (64 Genes) Panel

STAT3 mutation analysis 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

STAT3. Complete sequencing Panel

Humoral dysfunction Del/Dup Panel Panel

Humoral dysfunction Seq Analysis Panel

Humoral dysfunction Seq + Del/Dup Panel Panel

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

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

Hyper IgE Syndrome Sequencing Panel with CNV Detection Panel

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

Interstitial Lung Disease Sequencing Panel with CNV Detection Panel

Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection Panel

STAT3 gene Panel

STAT3 Panel

HIES syndromes panel Panel

Hyper-IgE recurrent infection syndrome Panel

Comprehensive pulmonary disease panel Panel

Syndromes with immunodeficiency Panel Panel

Single gene testing STAT3 Panel

Job Syndrome Panel

Autosomal Dominant Hyper IgE Syndrome, STAT3 Panel

STAT3 SH2 and DNA Binding Sequencing Panel

Hyper-IgE Syndrome Panel

Hyperimmunoglobulin E syndrome Panel

Hyper-IgE Syndrome Panel

Invitae Hyper IgE Syndrome Panel Panel

Invitae Common Variable Immunodeficiency Panel Panel

Invitae Monogenic Autoimmunity Panel Panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

Invitae Primary Immunodeficiency Panel Panel

Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel

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

Hyper IgE Syndromes: Sequencing Panel Panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

Hyper IgE Syndromes: Deletion/Duplication Panel Panel

STAT3 Panel

Primary Immunodeficiency Panel Panel

Severe Combined Immunodeficiency Panel Panel

Comprehensive Pulmonology Panel Panel

Interstitial Lung Disease Panel Panel

Focus::DLBCL&FL™ NGS Panel Panel

Focus::Lymphoma™ NGS Panel Panel

Autosomal dominant hyper IgE syndrome Panel

FoundationOne® Heme Panel