OTULIN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to OTULIN gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Fever Very Common - Between 80% and 100% cases
Diarrhea Very Common - Between 80% and 100% cases
Immunodeficiency Very Common - Between 80% and 100% cases
Arthralgia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Myalgia
  • Scarring
  • Skin rash
  • Lymphadenopathy
  • Vasculitis
  • Lipodystrophy
  • Leukocytosis
  • Joint swelling

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to OTULIN gene

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


INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME


Alternate names

INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME Is also known as otulipenia, oras, otulin deficiency, otulin-related autoinflammatory syndrome

Description

Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

Most common symptoms of INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Arthralgia


More info about INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for OTULIN gene

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

Autoinflammatory Syndrome Panel Panel

Finland.

By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4

More info about this panel


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