PRKCD gene related symptoms and diseases
All the information presented here about the PRKCD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRKCD gene
Symptoms // Phenotype | % Cases |
---|---|
Purpura | Common - Between 50% and 80% cases |
Splenomegaly | Common - Between 50% and 80% cases |
Hepatomegaly | Common - Between 50% and 80% cases |
Autoimmune thrombocytopenia | Common - Between 50% and 80% cases |
Autoimmunity | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PRKCD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lymphadenopathy
- Hemolytic anemia
Not very common - Between 30% and 50% cases
- Anemia
- Lymphoma
- Vasculitis
- Autoimmune neutropenia
- Lymphocytosis
- Lymphoproliferative disorder
And 90 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRKCD gene
Here you will find a list of rare diseases related to the PRKCD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3
Alternate names
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly, immunodeficiency, common variable, 9, formerly
Description
Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.
Most common symptoms of AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3
- Anemia
- Hepatomegaly
- Splenomegaly
- Immunodeficiency
- Recurrent infections
More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3
SOURCES: OMIM
COMMON VARIABLE IMMUNODEFICIENCY
Alternate names
COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency, cvid, antibody deficiency due to icos defect, idiopathic immunoglobulin deficiency, primary hypogammaglobulinemia
Description
Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.
Most common symptoms of COMMON VARIABLE IMMUNODEFICIENCY
- Hepatomegaly
- Diarrhea
- Splenomegaly
- Immunodeficiency
- Recurrent infections
More info about COMMON VARIABLE IMMUNODEFICIENCY
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Alternate names
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps, autoimmune lymphoproliferative syndrome, type i, autosomal dominant, fas deficiency, canale-smith syndrome
Description
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
Most common symptoms of AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
- Neoplasm
- Anemia
- Hepatomegaly
- Edema
- Splenomegaly
More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
Alternate names
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as autosomal sle, familial systemic lupus erythematosus, familial sle
Description
Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.
Most common symptoms of AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
- Systemic lupus erythematosus
- Nephritis
More info about AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
Search interest in PRKCD
Potential gene panels for PRKCD gene
PRKCD Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PRKCD gene.
More info about this panelPrimary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A
More info about this panelHumoral dysfunction Del/Dup Panel Panel
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 panelHumoral dysfunction Seq Analysis Panel
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 panelHumoral dysfunction Seq + Del/Dup Panel Panel
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 panelAutoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection Panel
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 panelAutoimmune lymphoproliferative syndrome type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PRKCD gene.
More info about this panelImmune dysregulation Panel Panel
By CeGaT GmbH Immune dysregulation Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG TREX1 ITCH CASP10 CASP8 CARD11
More info about this panelInvitae Common Variable Immunodeficiency Panel Panel
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 panelInvitae Monogenic Autoimmunity Panel Panel
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 panelInvitae Primary Immunodeficiency Panel Panel
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 panelInvitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Panel
By Invitae Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel that also includes the following genes: FAS FASLG CASP8 CTLA4 MAGT1 ITK PIK3CD PRKCD
More info about this panelPRKCD Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRKCD gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelAUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL Panel
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 panelAutoimmune Lymphoproliferative Syndrome Type III, Sequencing PRKCD Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PRKCD gene.
More info about this panel152 Integrated Advantage NGS Solid Tumor Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NTF3 KCNV2 ACAT2 REEP1 MMAB PLEKHG1 SERPINA1