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.

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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

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

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

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

Central hypoventilation syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ASCL1 gene.

More info about this panel

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

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

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

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

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

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

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

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

ASCL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASCL1 gene.

More info about this panel

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

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

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

Ondine Syndrome, Sequencing ASCL1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ASCL1 gene.

More info about this panel

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

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


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