STOM gene related symptoms and diseases
All the information presented here about the STOM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STOM gene
|Symptoms // Phenotype||% Cases|
|Generalized hypotonia||Very Common - Between 80% and 100% cases|
|Anisocytosis||Very Common - Between 80% and 100% cases|
|Hyperbilirubinemia||Very Common - Between 80% and 100% cases|
|Brittle hair||Very Common - Between 80% and 100% cases|
|Abnormality of mitochondrial metabolism||Very Common - Between 80% and 100% cases|
Other less frequent symptoms and clinical featuresPatients with STOM gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Pulmonary fibrosis
- Increased antibody level in blood
- Intermittent jaundice
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to STOM gene
Here you will find a list of rare diseases related to the STOM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OVERHYDRATED HEREDITARY STOMATOCYTOSIS
OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs, potassium-sodium disorder of erythrocyte
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.
Most common symptoms of OVERHYDRATED HEREDITARY STOMATOCYTOSIS
- Generalized hypotonia
More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS
Search interest in STOM
Potential gene panels for STOM gene
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59More info about this panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STOM gene.More info about this panel
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