DPP6 gene related symptoms and diseases

All the information presented here about the DPP6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DPP6 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ventricular fibrillation Uncommon - Between 30% and 50% cases
Sudden cardiac death Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DPP6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Alternating esotropia
  • Horizontal nystagmus
  • Oligodontia
  • Reduced number of teeth
  • Broad hallux
  • Overbite
  • Small forehead
  • J wave

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DPP6 gene

Here you will find a list of rare diseases related to the DPP6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Intellectual disability, severe


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33

SOURCES: OMIM

AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY


Description

Autosomal dominant primary microcephaly is a rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

Most common symptoms of AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus


More info about AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY

SOURCES: ORPHANET OMIM MESH

IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE


Alternate names

IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE Is also known as vf, familial paroxysmal ventricular fibrillation, non brugada type, ivf

Description

Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). Patients with a distinct form of VF called Brugada syndrome (see {601144}) present with a characteristic electrocardiographic pattern, with right bundle branch block (RBBB) and elevation of ST segment in leads V1 to V3 and may account for 40 to 60% of all IVF cases (review by Chen et al., 1998). Mutations in the SCN5A gene were identified in patients with Brugada syndrome-1 (OMIM ). Genetic Heterogeneity of Paroxysmal Familial Ventricular FibrillationAnother familial form of VF (VF2 ) is caused by mutation in the DPP6 gene (OMIM ) on chromosome 7q26.

Most common symptoms of IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE

  • Arrhythmia
  • Tachycardia
  • Sudden cardiac death
  • Syncope
  • Ventricular fibrillation


More info about IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE

SOURCES: ORPHANET OMIM

VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2


Most common symptoms of VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2

  • Abnormal heart morphology
  • Sudden cardiac death
  • Ventricular fibrillation


More info about VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2

SOURCES: OMIM MESH


Potential gene panels for DPP6 gene

Autism Spectrum Disorders 53-Gene Panel Panel

United States.

By Center for Human Genetics, Inc Autism Spectrum Disorders 53-Gene Panel that also includes the following genes: RPL10 SYN1 SYNGAP1 TSPAN7 PCDH10 CNTNAP2 SH3KBP1 CACNA1H PCDH19 NLGN4X

More info about this panel

DPP6 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the DPP6 gene.

More info about this panel

Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN CACNA1C

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel Panel

Germany.

By CeGaT GmbH Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel that also includes the following genes: RYR2 SCN5A TRDN CALM1 CALM2 CASQ2 DPP6 GNAI2 ANK2 KCNJ2

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel

Cardio-channelopathy-gene-panel Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner Cardio-channelopathy-gene-panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

DPP6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DPP6 gene.

More info about this panel

Cardiac Arrhythmia Exome Panel Panel

United States.

By Northwest Clinical Genomics Laboratory University of Washington Cardiac Arrhythmia Exome Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN TTN CACNA1C

More info about this panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Spain.

By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP

More info about this panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ

More info about this panel

Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SMARCA4 SMARCB1 ARID1A SYNGAP1 TRIO ZBTB18 CACNG2 DEAF1 SETBP1 ADNP

More info about this panel


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