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: HGNC,OMIM,NCBIGENE.

Top 5 symptoms associated to RBX1 gene



Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Dysuria Very Common - Between 80% and 100% cases
Skin vesicle Very Common - Between 80% and 100% cases
Macule Very Common - Between 80% and 100% cases
Conjunctivitis Very Common - Between 80% and 100% cases

Other less frequent symptoms

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

Commonly - More than 50% cases

Pancreatitis

Not very common - Between 30% and 50% cases

Eosinophilia

Commonly - More than 50% cases

Restrictive ventilatory defect

Not very common - Between 30% and 50% cases

Corneal erosion

Commonly - More than 50% cases

Acute hepatic failure

Not very common - Between 30% and 50% cases

Entropion

Commonly - More than 50% cases

Nephritis

Not very common - Between 30% and 50% cases

Excessive salivation

And 31 more phenotypes.

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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 ;dermatostomatitis, stevens johnson type

Description

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.

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: MONDO NCIT UMLS SCTID OMIM ORPHANET MESH ICD9

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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