AP1S3 gene related symptoms and diseases

All the information presented here about the AP1S3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AP1S3 gene

Symptoms // Phenotype % Cases
Psoriasiform dermatitis Common - Between 50% and 80% cases
Pustule Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Furrowed tongue Rare - less than 30% cases
Pain Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with AP1S3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Oligoarthritis
  • Geographic tongue
  • Palmoplantar pustulosis
  • Periostitis
  • Asthenia
  • Neutrophilia
  • Chills
  • Cholangitis

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AP1S3 gene

Here you will find a list of rare diseases related to the AP1S3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GENERALIZED PUSTULAR PSORIASIS


Alternate names

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra, interleukin 36 receptor antagonist deficiency, acrodermatitis continua of hallopeau, generalized pustular psoriasis, psorp, gpp, palmoplantar pustulosis

Description

Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

Most common symptoms of GENERALIZED PUSTULAR PSORIASIS

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


More info about GENERALIZED PUSTULAR PSORIASIS

SOURCES: OMIM ORPHANET

PUSTULOSIS PALMARIS ET PLANTARIS


Alternate names

PUSTULOSIS PALMARIS ET PLANTARIS Is also known as localized pustular psoriasis, lpp, ppp, palmoplantar pustulosis

Most common symptoms of PUSTULOSIS PALMARIS ET PLANTARIS

  • Pain
  • Pruritus
  • Psoriasiform dermatitis
  • Pustule


More info about PUSTULOSIS PALMARIS ET PLANTARIS

SOURCES: ORPHANET

PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15


Most common symptoms of PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15

  • Nail dystrophy
  • Psoriasiform dermatitis


More info about PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15

SOURCES: OMIM

ACRODERMATITIS CONTINUA OF HALLOPEAU



More info about ACRODERMATITIS CONTINUA OF HALLOPEAU

SOURCES: ORPHANET


Potential gene panels for AP1S3 gene

AP1S3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the AP1S3 gene.

More info about this panel


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