DYRK1A gene related symptoms and diseases
All the information presented here about the DYRK1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DYRK1A gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Deeply set eye | Uncommon - Between 30% and 50% cases |
Thickened helices | Uncommon - Between 30% and 50% cases |
Hallux valgus | Uncommon - Between 30% and 50% cases |
Failure to thrive in infancy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DYRK1A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Thick lower lip vermilion
- Hypotelorism
- Eczema
- Narrow forehead
- Febrile seizures
- Bulbous nose
- Severe global developmental delay
- Small for gestational age
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DYRK1A gene
Here you will find a list of rare diseases related to the DYRK1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7
- Intellectual disability
- Seizures
- Generalized hypotonia
- Microcephaly
- Ataxia
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7
DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME DUE TO 21Q22.13Q22.2 MICRODELETION
Alternate names
DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME DUE TO 21Q22.13Q22.2 MICRODELETION Is also known as monosomy 21q22.13-q22.2, del(21)(q22.13q22.2), monosomy 21q22.13q22.2, 21q22.13-q22.2 microdeletion syndrome, 21q22.13q22.2 microdeletion syndrome
More info about DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME DUE TO 21Q22.13Q22.2 MICRODELETION
SOURCES: ORPHANET
INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION
Alternate names
INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION Is also known as dyrk1a-related intellectual disability syndrome due to a point mutation
More info about INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION
SOURCES: ORPHANET
Search interest in DYRK1A
Potential gene panels for DYRK1A gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel![](/img/flags/United-states.png)
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP
More info about this panel![](/img/flags/United-states.png)
Syndromic Autism Panel Panel
![](/img/flags/United-states.png)
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
More info about this panel![](/img/flags/United-states.png)
NGS Epilepsy/Seizure Panel Panel
![](/img/flags/United-states.png)
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel![](/img/flags/United-states.png)
Rett/Angelman Syndrome Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
By Genetic Services Laboratory University of Chicago Rett/Angelman Syndrome Deletion/Duplication Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX MBD5
More info about this panel![](/img/flags/United-states.png)
Non-Specific Intellectual Disability Panel Panel
![](/img/flags/United-states.png)
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel![](/img/flags/United-states.png)
Rett/Angelman Syndrome Sequencing Panel Panel
![](/img/flags/United-states.png)
By Genetic Services Laboratory University of Chicago Rett/Angelman Syndrome Sequencing Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX MBD5
More info about this panel![](/img/flags/United-states.png)
Microcephaly Sequencing Panel Panel
![](/img/flags/United-states.png)
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel![](/img/flags/United-states.png)
Microcephaly Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel![](/img/flags/United-states.png)
AutismNext Panel
![](/img/flags/United-states.png)
By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1
More info about this panel![](/img/flags/United-states.png)
CustomNext: Neuro Panel
![](/img/flags/United-states.png)
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel![](/img/flags/United-states.png)
Neurodevelopment-Expanded Panel
![](/img/flags/United-states.png)
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel![](/img/flags/United-states.png)
EpilepsyNext Panel
![](/img/flags/United-states.png)
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel![](/img/flags/United-states.png)
EpiRapid reflex EpilepsyNext Panel
![](/img/flags/United-states.png)
By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel![](/img/flags/United-states.png)
IDNext Panel
![](/img/flags/United-states.png)
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel![](/img/flags/United-states.png)
Angelman/Rett Seq Panel
![](/img/flags/United-states.png)
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Angelman/Rett Seq that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A PCDH19 ZEB2 ARX MBD5 EHMT1
More info about this panel![](/img/flags/United-states.png)
Angelman/Rett Del/Dup Panel
![](/img/flags/United-states.png)
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Angelman/Rett Del/Dup that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A PCDH19 ZEB2 ARX MBD5 EHMT1 DYRK1A
More info about this panel![](/img/flags/United-states.png)
Angelman/ Rett Seq + Del/Dup Panel
![](/img/flags/United-states.png)
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Angelman/ Rett Seq + Del/Dup that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A PCDH19 ZEB2 ARX MBD5 EHMT1
More info about this panel![](/img/flags/United-states.png)
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel![](/img/flags/United-states.png)
Syndromic Intellectual Disability/Autism Spectrum Disorder via DYRK1A Gene Sequencing with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics
This panel specifically test the DYRK1A gene.
More info about this panel![](/img/flags/United-states.png)
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
More info about this panel![](/img/flags/United-states.png)
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Neurogenetic Disorders - panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mental Retardation and Dysmorphology - panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Syndromal Diseases - panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Brain Malformations / Neuronal Migration Disorders Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Angelman Syndrome and Differential Diagnoses Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Angelman Syndrome and Differential Diagnoses that also includes the following genes: SLC9A6 KDM5C CDKL5 SYNGAP1 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epileptic syndromes with epilepsy and intellectual disability panel Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Mental retardation, autosomal dominant type 7 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the DYRK1A gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
DYRK1A Panel
![](/img/flags/Denmark.png.pagespeed.ce.NsMpWwCVLQ.png)
By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the DYRK1A gene.
More info about this panel![](/img/flags/Denmark.png.pagespeed.ce.NsMpWwCVLQ.png)
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Invitae Epilepsy Panel Panel
![](/img/flags/United-states.png)
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel![](/img/flags/United-states.png)
Invitae Rett and Angelman Syndromes and Related Disorders Panel Panel
![](/img/flags/United-states.png)
By Invitae Invitae Rett and Angelman Syndromes and Related Disorders Panel that also includes the following genes: SCN8A SLC9A6 CDKL5 STXBP1 TCF4 UBE3A CNTNAP2 ZEB2 NGLY1 MBD5
More info about this panel![](/img/flags/United-states.png)
Intellectual Disability NGS Panel Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel![](/img/flags/United-states.png)
DYRK1A Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DYRK1A gene.
More info about this panel![](/img/flags/United-states.png)
Early-Onset Epileptic Encephalopathy NGS Panel Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy NGS Panel Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel![](/img/flags/United-states.png)
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ABCA3 SIX1 POP1 LPL HIKESHI CAMK2B