DOCK6 gene related symptoms and diseases

All the information presented here about the DOCK6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DOCK6 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Ventriculomegaly Very Common - Between 80% and 100% cases
Short distal phalanx of finger Very Common - Between 80% and 100% cases
Polymicrogyria Very Common - Between 80% and 100% cases
Small nail Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DOCK6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cutis marmorata
  • Cerebellar hypoplasia
  • Alopecia
  • Abnormal heart morphology
  • Cutis marmorata telangiectatica congenita
  • Microphthalmia
  • Syndactyly
  • Hypertonia

And 130 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to DOCK6 gene

Here you will find a list of rare diseases related to the DOCK6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADAMS-OLIVER SYNDROME


Alternate names

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects, congenital scalp defects with distal limb reduction anomalies, congenital scalp defects with distal limb anomalies, aos, absence defect of limbs, scalp, and skull, limb, scalp and skull defects

Description

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

Most common symptoms of ADAMS-OLIVER SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about ADAMS-OLIVER SYNDROME

SOURCES: ORPHANET OMIM

ADAMS-OLIVER SYNDROME 2; AOS2


Description

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Most common symptoms of ADAMS-OLIVER SYNDROME 2; AOS2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about ADAMS-OLIVER SYNDROME 2; AOS2

SOURCES: OMIM


Potential gene panels for DOCK6 gene

Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2

More info about this panel

DOCK6. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DOCK6 gene.

More info about this panel

Adams-Oliver syndrome (AOS2, sequence analysis of DOCK6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DOCK6 gene.

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel

Adams-Oliver Syndrome via DOCK6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DOCK6 gene.

More info about this panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Adams-Oliver syndrome Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Adams-Oliver syndrome Deletion/ Duplication panel that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1

More info about this panel

Adams-Oliver syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Adams-Oliver syndrome NGS panel that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1

More info about this panel

Adams-Oliver syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Adams-Oliver syndrome Comprehensive panel that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Adams-Oliver syndrome type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DOCK6 gene.

More info about this panel

DOCK6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DOCK6 gene.

More info about this panel

Adams-Oliver Syndrome Panel Panel

Finland.

By Blueprint Genetics Adams-Oliver Syndrome Panel that also includes the following genes: UBR1 KCTD1 DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Limb Malformations Panel Panel

Finland.

By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

ADAMS-OLIVER SYNDROME 2; AOS2 Panel

Spain.

By Bioarray

This panel specifically test the DOCK6 gene.

More info about this panel

ADAMS-OLIVER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL ADAMS-OLIVER SYNDROME that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1

More info about this panel

ADAMS-OLIVER SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ADAMS-OLIVER SYNDROME NGS PANEL that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1

More info about this panel

Adams-Oliver syndrome type 2 Panel

Canada.

By LifeLabs Genetics

This panel specifically test the DOCK6 gene.

More info about this panel

Adams-Oliver Type 2 Syndrome, Sequencing DOCK6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DOCK6 gene.

More info about this panel

Adams-Oliver Syndrome, Panel Massive Sequencing (NGS) 3 Genes Panel

Spain.

By Reference Laboratory Genetics Adams-Oliver Syndrome, Panel Massive Sequencing (NGS) 3 Genes that also includes the following genes: DOCK6 ARHGAP31 NOTCH1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KLF11 CSNK1D TENT5C SLC16A2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more