ASCL1 gene related symptoms and diseases
All the information presented here about the ASCL1 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 ASCL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ganglioneuroma | Very Common - Between 80% and 100% cases |
| Aganglionic megacolon | Very Common - Between 80% and 100% cases |
| Strabismus | Very Common - Between 80% and 100% cases |
| Muscular hypotonia | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ASCL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Central hypoventilation
- Neuroblastoma
- Abnormal autonomic nervous system physiology
Not very common - Between 30% and 50% cases
- Abnormality of the mouth
- Hypoventilation
- Polycythemia
- Sleep apnea
- Polyphagia
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ASCL1 gene
Here you will find a list of rare diseases related to the ASCL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HADDAD SYNDROME
Alternate names
HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome, ondine-hirschsprung syndrome, ondine-hirschsprung disease
Description
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).
Most common symptoms of HADDAD SYNDROME
- Intellectual disability
- Seizures
- Failure to thrive
- Strabismus
- Sensorineural hearing impairment
More info about HADDAD SYNDROME
SOURCES: ORPHANET
ONDINE SYNDROME
Alternate names
ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome, autonomic control, congenital failure of, central congenital hypoventilation syndrome, ondine curse, congenital, cchs, ondine curse
Description
Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.
Most common symptoms of ONDINE SYNDROME
- Seizures
- Strabismus
- Muscular hypotonia
- Pain
- Low-set ears
More info about ONDINE SYNDROME
Search interest in ASCL1
Potential gene panels for ASCL1 gene
Central Hypoventilation Syndrome Panel (6 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Central Hypoventilation Syndrome Panel (6 Genes) that also includes the following genes: BDNF EDN3 GDNF ASCL1 PHOX2B RET
More info about this panel United States.
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 United States.
Central hypoventilation syndrome (sequence analysis of ASCL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ASCL1 gene.
More info about this panel Portugal.
Congenital Central Hypoventilation Syndrome (CCHS) via ASCL1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ASCL1 gene.
More info about this panel United States.
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection that also includes the following genes: BDNF BMP2 EDN3 PHOX2A ASCL1 PHOX2B RET
More info about this panel United States.
Central hypoventilation syndrome, congenital Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ASCL1 gene.
More info about this panel Germany.
Central hypoventilation syndrome, congenital Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ASCL1 gene.
More info about this panel Germany.
Central hypoventilation syndrome, congenital Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ASCL1 gene.
More info about this panel Germany.
Central hypoventilation syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ASCL1 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Congenital Central Hypoventilation Syndrome: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Central Hypoventilation Syndrome: Sequencing Panel that also includes the following genes: BDNF EDN3 GDNF HOXA1 ASCL1 PHOX2B RET
More info about this panel United States.
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 United States.
Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel that also includes the following genes: BDNF EDN3 GDNF HOXA1 ASCL1 PHOX2B RET
More info about this panel United States.
Hypoventilation Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hypoventilation Syndrome NGS Panel that also includes the following genes: BDNF EDN3 GDNF ASCL1 PHOX2B
More info about this panel United States.
Lung Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panel United States.
Central Hypoventilation Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Central Hypoventilation Syndrome NGS Panel that also includes the following genes: BDNF EDN3 GDNF ASCL1 PHOX2B RET
More info about this panel United States.
ASCL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ASCL1 gene.
More info about this panel United States.
ASCL1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ASCL1 gene.
More info about this panel United States.
HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME) that also includes the following genes: BDNF EDN3 GDNF GFRA1 PHOX2A ASCL1 PHOX2B RET
More info about this panel Spain.
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: BDNF EDN3 GDNF GFRA1 PHOX2A ASCL1 PHOX2B RET
More info about this panel Spain.
Ondine Syndrome, Sequencing ASCL1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ASCL1 gene.
More info about this panel Spain.
Ondine Syndrome (Congenital Central Hypoventilation Syndrome), Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Ondine Syndrome (Congenital Central Hypoventilation Syndrome), Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: BDNF EDN3 GDNF ASCL1 PHOX2B RET
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like F5 ESCO2 SLC4A1 ATXN7 CDAN1 TAB2 ARSE