PIK3CD gene related symptoms and diseases

All the information presented here about the PIK3CD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PIK3CD gene

Symptoms // Phenotype % Cases
Immunodeficiency Very Common - Between 80% and 100% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PIK3CD gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Osteopenia
  • Umbilical hernia
  • Arthritis
  • Short metacarpal
  • Generalized myoclonic seizures
  • Short metatarsal
  • Cone-shaped epiphysis
  • Ectopic kidney

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PIK3CD gene

Here you will find a list of rare diseases related to the PIK3CD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACTIVATED PI3K-DELTA SYNDROME


Alternate names

ACTIVATED PI3K-DELTA SYNDROME Is also known as activated pi3k-delta syndrome, senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation, apds, p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency, pasli

Description

Activated PI3K-delta syndrome is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.

Most common symptoms of ACTIVATED PI3K-DELTA SYNDROME

  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections
  • Respiratory tract infection


More info about ACTIVATED PI3K-DELTA SYNDROME

SOURCES: ORPHANET OMIM

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Alternate names

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay, roifman-chitayat syndrome

Description

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

Most common symptoms of COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

SOURCES: ORPHANET MESH OMIM


Potential gene panels for PIK3CD gene

PIK3CD 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 PIK3CD gene.

More info about this panel

PIK3CD 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 PIK3CD gene.

More info about this panel

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1

More info about this panel

Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel

United States.

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 panel

Immunodeficiency 14 (sequence analysis of PIK3CD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PIK3CD gene.

More info about this panel

Primary Immunodeficiency via PIK3CD Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PIK3CD gene.

More info about this panel

Hyper IgM Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyper IgM Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG AICDA MRE11 NBN NFKBIA ATM

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

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Immunodeficiency type 14 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PIK3CD gene.

More info about this panel

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

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 Autoimmune Lymphoproliferative Disorders (ALPS) Panel Panel

United States.

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 panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2

More info about this panel

PIK3CD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIK3CD 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

Focus::MCL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C

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

Activated PI3K-delta Immunodeficiency Syndrome , Sequencing PIK3CD gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PIK3CD 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

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


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