DOCK8 gene related symptoms and diseases

All the information presented here about the DOCK8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DOCK8 gene

Symptoms // Phenotype % Cases
Asthma Common - Between 50% and 80% cases
Atopic dermatitis Common - Between 50% and 80% cases
Recurrent sinusitis Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Anal canal squamous carcinoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DOCK8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Squamous cell carcinoma of the vulva
  • Recurrent fungal infections
  • Abnormality of the dentition
  • Immunodeficiency
  • Coarse facial features
  • Severe viral infections
  • Recurrent sinopulmonary infections
  • Otitis media

And 86 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DOCK8 gene

Here you will find a list of rare diseases related to the DOCK8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Ectodermal dysplasia


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

SOURCES: OMIM

COMBINED IMMUNODEFICIENCY DUE TO DOCK8 DEFICIENCY


Alternate names

COMBINED IMMUNODEFICIENCY DUE TO DOCK8 DEFICIENCY Is also known as cid due to dock8 deficiency, dock8 immunodeficiency syndrome, combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Description

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).

Most common symptoms of COMBINED IMMUNODEFICIENCY DUE TO DOCK8 DEFICIENCY

  • Pneumonia
  • Recurrent respiratory infections
  • Asthma
  • Skin ulcer
  • Chronic otitis media


More info about COMBINED IMMUNODEFICIENCY DUE TO DOCK8 DEFICIENCY

SOURCES: ORPHANET

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Alternate names

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive, hies, autosomal recessive

Description

Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

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

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


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

SOURCES: OMIM 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

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY



More info about AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET


Potential gene panels for DOCK8 gene

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

DOCK8 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 DOCK8 gene.

More info about this panel

DOCK8 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 DOCK8 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

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

DOCK8 mutation analysis Panel

Netherlands.

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

This panel specifically test the DOCK8 gene.

More info about this panel

DOCK8. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DOCK8 gene.

More info about this panel

DOCK8. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DOCK8 gene.

More info about this panel

DOCK8. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DOCK8 gene.

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Severe combined immunodeficiency Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficency Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficiency Del/dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Hyper-IgE syndrome, AR (sequence analysis of DOCK8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DOCK8 gene.

More info about this panel

Hyper-IgE syndrome, AR (deletion/duplication analysis of DOCK8 and STAT3 genes) Panel

Portugal.

By CGC Genetics

This panel specifically test the DOCK8 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 Recessive Hyper IgE Syndrome via DOCK8 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DOCK8 gene.

More info about this panel

DOCK8 Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the DOCK8 gene.

More info about this panel

DOCK8 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the DOCK8 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

Severe combined immunodeficiency (SCID) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

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

Mental retardation, autosomal dominant type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DOCK8 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

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

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G

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 Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3G CD8A LRBA

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

DOCK8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DOCK8 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

Autosomal recessive hyper IgE syndrome Panel

Spain.

By Bioarray

This panel specifically test the DOCK8 gene.

More info about this panel

Autosomal recessive hyper IgE syndrome Panel

Spain.

By Bioarray

This panel specifically test the DOCK8 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

HYPER IgE SYNDROME (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPER IgE SYNDROME (AUTOSOMAL RECESSIVE) that also includes the following genes: TYK2 DOCK8 PGM3

More info about this panel

Autosomal Recessive Hyper IgE Syndrome, Sequencing DOCK8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DOCK8 gene.

More info about this panel

Autosomal Recessive Hyper IgE Syndrome, Deletions-Duplications (MLPA) DOCK8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DOCK8 gene.

More info about this panel


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