RBX1 gene related symptoms and diseases

All the information presented here about the RBX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE.

Top 5 symptoms associated to RBX1 gene



Symptoms // Phenotype % Cases
Anemia 100%
Dysuria 100%
Skin vesicle 100%
Macule 100%
Conjunctivitis 100%

Other less frequent symptoms

Patients with RBX1 gene alterations may also develop some of the following symptoms and phenotypes:

100% Pancreatitis 100% Eosinophilia 100% Restrictive ventilatory defect 100% Corneal erosion 100% Acute hepatic failure 100% Entropion 100% Nephritis 100% Excessive salivation

And 31 more phenotypes.
View the complete list

Rare diseases associated to RBX1 gene

Here you will find a list of rare diseases related to the RBX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO

Alternate names

SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO Is also known as ;stevens-johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Description

Dermatostomatitis, Stevens Johnson type

Most common symptoms of SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO

  • Anemia
  • Visual impairment
  • Fever
  • Dysphagia
  • Renal insufficiency


More info about SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO

SOURCES: UMLS NCIT SCTID MONDO OMIM ORPHANET ICD9 MESH

Potential gene panels for RBX1 gene

RBX1 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the RBX1 gene.

More info about this panel


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