RPSA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to RPSA gene

Symptoms // Phenotype % Cases
Fever Very Common - Between 80% and 100% cases
Vomiting Very Common - Between 80% and 100% cases
Immunodeficiency Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Sepsis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Meningitis
  • Thrombocytosis
  • Abnormality of abdomen morphology
  • Polysplenia
  • Asplenia
  • Heterotaxy

Rare diseases associated to RPSA gene

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


FAMILIAL ISOLATED CONGENITAL ASPLENIA

Alternate names

FAMILIAL ISOLATED CONGENITAL ASPLENIA Is also known as splenic hypoplasia, asplenia, familial, hyposplenia, isolated congenital

Description

Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.

Most common symptoms of FAMILIAL ISOLATED CONGENITAL ASPLENIA

  • Fever
  • Vomiting
  • Immunodeficiency
  • Abnormality of metabolism/homeostasis
  • Sepsis


More info about FAMILIAL ISOLATED CONGENITAL ASPLENIA

SOURCES: OMIM ORPHANET MESH


Potential gene panels for RPSA gene

Syndromes with immunodeficiency Panel Panel

Germany.

By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1

More info about this panel
Germany.

RPSA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RPSA gene.

More info about this panel
United States.

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel
Finland.

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