MYO1H gene related symptoms and diseases

All the information presented here about the MYO1H gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MYO1H gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Abnormality of the endocrine system Very Common - Between 80% and 100% cases
Sleep apnea Very Common - Between 80% and 100% cases
Polyphagia Very Common - Between 80% and 100% cases
Neuroblastoma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MYO1H gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Polycythemia
  • Hypoventilation
  • Abnormality of the mouth
  • Obstructive sleep apnea
  • Cardiorespiratory arrest
  • Hypothermia
  • Chronic constipation
  • Chronic lung disease

And 38 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to MYO1H gene

Here you will find a list of rare diseases related to the MYO1H. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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


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


Potential gene panels for MYO1H gene

MYO1H Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYO1H gene.

More info about this panel

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