ASNS gene related symptoms and diseases
All the information presented here about the ASNS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ASNS gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Muscular hypotonia of the trunk | Very Common - Between 80% and 100% cases |
Profound global developmental delay | Very Common - Between 80% and 100% cases |
Dilation of lateral ventricles | Very Common - Between 80% and 100% cases |
Long foot | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ASNS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypoplasia of the pons
- Progressive encephalopathy
- Cortical gyral simplification
- Cortical dysplasia
- Large hands
- Progressive microcephaly
- Cerebral visual impairment
- Hypsarrhythmia
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ASNS gene
Here you will find a list of rare diseases related to the ASNS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME
Alternate names
CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME Is also known as asparagine synthetase deficiency, asns deficiency
Description
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.
Most common symptoms of CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Failure to thrive
More info about CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME
Search interest in ASNS
Potential gene panels for ASNS gene
Cerebral Cortical Malformation Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panelCerebral Cortical Malformations Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panelAsparaginesynthetase deficiency (sequence analysis of ASNS gene) Panel
By CGC Genetics
This panel specifically test the ASNS gene.
More info about this panelHyperekplexia (NGS panel for 7 genes) Panel
By CGC Genetics Hyperekplexia (NGS panel for 7 genes) that also includes the following genes: SLC6A5 ARHGEF9 GPHN FKTN GLRA1 GLRB ASNS
More info about this panelMental retardation - different panels Panel
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 panelAllNeuro panel Panel
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 panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelASNS Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ASNS gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelEpileptic Encephalopathy Panel Panel
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panelTempus xT assay Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BARD1 DLG3 CHRNA4 POC1A ANKRD26 NEK2 GCNT2