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 features

Patients 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
  • Reticulocytosis
  • Spherocytosis
  • Dehydration
  • Poikilocytosis
  • Stomatocytosis
  • Intermittent jaundice

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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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


Alternate names

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs, potassium-sodium disorder of erythrocyte

Description

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
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

SOURCES: OMIM ORPHANET MESH


Potential gene panels for STOM gene

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

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 CD59

More info about this panel

STOM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STOM gene.

More info about this panel


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