CTSH gene related symptoms and diseases

All the information presented here about the CTSH 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 CTSH gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Brain neoplasm Very Common - Between 80% and 100% cases
Sleep paralysis Very Common - Between 80% and 100% cases
Paroxysmal drowsiness Very Common - Between 80% and 100% cases
Hypnagogic hallucinations Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • CNS infection
  • Transient global amnesia
  • Abnormal rapid eye movement sleep
  • Narcolepsy
  • Cataplexy
  • Excessive daytime sleepiness
  • Hypersomnia
  • Drowsiness

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CTSH gene

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


NARCOLEPSY TYPE 1

Alternate names

NARCOLEPSY TYPE 1 Is also known as gÉlineau disease, narcoleptic syndrome 1, narcolepsy-cataplexy

Description

Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

Most common symptoms of NARCOLEPSY TYPE 1

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


More info about NARCOLEPSY TYPE 1

SOURCES: ORPHANET OMIM


Potential gene panels for CTSH gene

CTSH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CTSH gene.

More info about this panel
United States.

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