JAK3 gene related symptoms and diseases

All the information presented here about the JAK3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,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 JAK3 gene

Symptoms // Phenotype	% Cases
Generalized hypotonia	Uncommon - Between 30% and 50% cases
Juvenile myelomonocytic leukemia	Uncommon - Between 30% and 50% cases
Lymphoma	Uncommon - Between 30% and 50% cases
Cutaneous anergy	Uncommon - Between 30% and 50% cases
Panhypogammaglobulinemia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with JAK3 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Abnormality of the lymph nodes
Severe combined immunodeficiency
Intestinal obstruction
Recurrent upper respiratory tract infections
Meningitis
Pneumonia
Diarrhea
Failure to thrive

And 18 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to JAK3 gene

Here you will find a list of rare diseases related to the JAK3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia, jmml, leukemia, juvenile myelomonocytic

Description

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

Generalized hypotonia
Abnormal facial shape
Anemia
Anteverted nares
Splenomegaly

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

SOURCES: ORPHANET MESH OMIM

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

Alternate names

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY Is also known as t-b+ scid due to jak3 deficiency, scid, t cell-negative, b cell-positive, nk cell-negative

Description

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

Most common symptoms of T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

Failure to thrive
Diarrhea
Pneumonia
Meningitis
Recurrent upper respiratory tract infections

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

SOURCES: OMIM ORPHANET MESH

LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL

Alternate names

LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL Is also known as lymphomatous all

Most common symptoms of LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL

Lymphoma
T-cell acute lymphoblastic leukemias

More info about LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL

SOURCES: OMIM MESH

Search interest in JAK3

Potential gene panels for JAK3 gene

Juvenile Myelomonocytic Leukemia Panel

United States.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco Juvenile Myelomonocytic Leukemia that also includes the following genes: CBL SETBP1 RRAS2 ASXL1 SH2B3 JAK3 KRAS NF1 NRAS PTPN11

JAK3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to JAK3 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to JAK3 gene

JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

Alternate names

Description

Most common symptoms of T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL

Alternate names

Most common symptoms of LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL

Search interest in JAK3

Potential gene panels for JAK3 gene

Juvenile Myelomonocytic Leukemia Panel

MyeloidDx by NGS Panel

MyeloidDx by NGS Panel

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing) Panel

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing) Panel

Severe Combined Immunodeficiency (SCID): JAK3 (Full Gene Sequencing) Panel

Severe Combined Immunodeficiency (SCID): JAK3 (Known mutation) Panel

Severe Combined Immunodeficiency (SCID): Two-gene Profile (IL2RG, JAK3) (Full Gene Sequencing) Panel

Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel

JAK3 Sequencing Panel

Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel

JAK3 Deletion/duplication analysis Panel

JAK3 Gene Sequencing Panel

JAK3. Complete sequencing Panel

Severe combined immunodeficiency Seq + Del/Dup Panel Panel

Severe combined immunodeficency Seq Analysis Panel

Severe combined immunodeficiency Del/dup Panel Panel

Severe combined immunodeficiency, T-/B+ by JAK3 deficiency (sequence analysis of JAK3 gene) Panel

Severe combined immunodeficiency, AR, T- B+ (deletion/duplication analysis of JAK3 gene) Panel

Severe combined immunodeficiency, AR, T- B+ (deletion/duplication analysis of JAK3 gene) Panel

Hereditary kidney disorders - different panels Panel

JAK3 Gene Panel

Severe combined immunodeficiency (SCID) panel Panel

Myeloid Tumor Panel Panel

B-positive SCID panel Panel

Comprehensive SCID panel Panel

Cancer Hotspot Panel Panel

Solid Tumor Panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

SCID autosomal recessive T negative B positive type Panel

Combined immunodeficiencies Panel Panel

Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive Panel

qCarrier Plus Panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel Panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

Invitae Primary Immunodeficiency Panel Panel

Invitae T-B+NK- Severe Combined Immunodeficiency (SCID) Panel Panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel Panel

Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel

JAK3 Panel

Primary Immunodeficiency Panel Panel

Severe Combined Immunodeficiency Panel Panel

Focus::Myeloid™ NGS Panel Panel

Focus::Myeloid™ NGS Panel Panel

Focus::MPN™ NGS Panel Panel

Focus::Oncomine™ NGS Panel Panel

SCID, autosomal recessive, T-negative/B-positive type Panel

Hematopoietic Disorders Gene Set Panel

Gynecologic Tumors Gene Set Panel

Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel Panel

JAK3 Gene Sequencing and Deletion/Duplication Analysis Panel

FoundationOne® Heme Panel

Guardant360 Panel

Comprehensive Panel for Individualized Cancer Threatment Panel

Cancer Hotspot Analysis Panel

Circulo Hematological Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

OmniSeq Comprehensive Panel

SEVERE COMBINED IMMUNODEFICIENCY (SCID) T- B- NK-, (AUTOSOMAL RECESSIVE) Panel