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
Search interest in LTC4S
Potential gene panels for LTC4S gene
LTC4S Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LTC4S gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PLAT PRICKLE2 ARL6IP1 DBH KLHL40 PDE6G CSTB