LTC4S gene related symptoms and diseases

All the information presented here about the LTC4S gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LTC4S gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Failure to thrive Very Common - Between 80% and 100% cases
Muscular hypotonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LTC4S gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal pyramidal sign
  • Severe muscular hypotonia
  • Failure to thrive in infancy
  • Mask-like facies

Rare diseases associated to LTC4S gene

Here you will find a list of rare diseases related to the LTC4S. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOTONIA-FAILURE TO THRIVE-MICROCEPHALY SYNDROME

Alternate names

HYPOTONIA-FAILURE TO THRIVE-MICROCEPHALY SYNDROME Is also known as leukotriene c4 synthase deficiency, ltc4 synthase deficiency

Description

Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.

Most common symptoms of HYPOTONIA-FAILURE TO THRIVE-MICROCEPHALY SYNDROME

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


More info about HYPOTONIA-FAILURE TO THRIVE-MICROCEPHALY SYNDROME

SOURCES: OMIM MESH ORPHANET


Potential gene panels for LTC4S gene

LTC4S Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LTC4S gene.

More info about this panel
United States.

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