1. Mendelian
  2. Rare Disease Genes
  3. RORC

RORC gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to RORC gene

Symptoms // Phenotype % Cases
Immunodeficiency Very Common - Between 80% and 100% cases
Hepatosplenomegaly Very Common - Between 80% and 100% cases
Chronic mucocutaneous candidiasis Very Common - Between 80% and 100% cases
Hypoplasia of the thymus Very Common - Between 80% and 100% cases

Rare diseases associated to RORC gene

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


AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE RORGAMMA RECEPTOR DEFICIENCY

Alternate names

AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE RORGAMMA RECEPTOR DEFICIENCY Is also known as autosomal recessive msmd due to complete rorgamma receptor defiency, autosomal recessive primary immunodeficiency due to rorc mutation

Description

Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections (summary by Okada et al., 2015).

Most common symptoms of AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE RORGAMMA RECEPTOR DEFICIENCY

  • Immunodeficiency
  • Hepatosplenomegaly
  • Chronic mucocutaneous candidiasis
  • Hypoplasia of the thymus


More info about AUTOSOMAL RECESSIVE MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE RORGAMMA RECEPTOR DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for RORC gene

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel
United States.

RORC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RORC 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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