Psoriasis 14, pustular

Preferred Label : Psoriasis 14, pustular;

Symbol : PSORS14;

CISMeF acronym : DITRA; GPP; PSORP; PSORS14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DITRA; Interleukin 36 receptor antagonist deficiency; PSORP; Generalized pustular psoriasis; Palmoplantar pustulosis; Acrodermatitis continua of hallopeau; GPP;

Description : Generalized pustular psoriasis is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (123260) (summary by Marrakchi et al., 2011). Generalized pustulosis in association with sterile multifocal osteomyelitis and periostitis (612852) is caused by mutation in the IL1RN gene (147679).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin-36 receptor antagonist gene (IL36RN, 605507.0001);

Laboratory abnormalities : Increased serum C-reactive protein (CRP, 123260);

Prefixed ID : #614204;

Details

Origin ID

614204;

UMLS CUI

C4759670;

Automatic exact mappings (from CISMeF team)
- Acrodermatitis continua of Hallopeau [ORDO Disease]
- Acrodermatitis continua of Hallopeau (disorder) [SNOMED CT concept]
- Acropustulosis of Hallopeau [ICD-11 Sub-sub category]
- Hallopeau acrodermatitis continua [PASCAL descriptor]
- Palmoplantar Pustulosis [NCIt concept]
- Palmoplantar pustulosis [ICD-11 Sub-sub category]
- Palmoplantar pustulosis [HPO term]
- Palmoplantar pustulosis [MedDRA Preferred Term]
- Palmoplantar pustulosis [HRDO Sign]
- Palmoplantaris pustulosis [PASCAL descriptor]
- Pustular psoriasis of palms and soles (disorder) [SNOMED CT concept]
- Pustulosis palmaris et plantaris [ORDO Disease]
- acrodermatitis continua of hallopeau [SNOMED Notion]
- pustular psoriasis 14 [DO Concept]
- pustulosis of palm and sole [DO Concept]
Currated CISMeF NLP mapping
- DITRA [ORDO Disease]
- DITRA [MedDRA LLT]
- Deficiency of interleukin 36 receptor antagonist (disorder) [SNOMED CT concept]
- Deficiency of the Interleukin-36 Receptor Antagonist [NCIt concept]
- Deficiency of the interleukin-36 receptor antagonist [MedDRA Preferred Term]
- Generalised pustular psoriasis [ICD-11 Sub-sub category]
- Generalized pustular psoriasis [ICD-10 Sub-category]
- Generalized pustular psoriasis [ICD-10 Sub-category (who)]
- Generalized pustular psoriasis [ORDO Disease]
- Generalized pustular psoriasis (disorder) [SNOMED CT concept]
- generalized pustular psoriasis [Disease (Nov.)]
- generalized pustular psoriasis of von zumbush [SNOMED Notion]
DO Cross reference
- pustular psoriasis 14 [DO Concept]
Genes related to phenotype
- Interleukin 36 receptor antagonist [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Cholangitis [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Epidermal acanthosis [HPO term]
- Erythema [HPO term]
- Fever [HPO term]
- Furrowed tongue [HPO term]
- Geographic tongue [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Leukocytosis [HPO term]
- Nail dystrophy [HPO term]
- Neonatal onset [HPO term]
- Neutrophilia [HPO term]
- Oligoarthritis [HPO term]
- Parakeratosis [HPO term]
- Polyarticular arthritis [HPO term]
- Psoriasiform dermatitis [HPO term]
- Pustule [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- DITRA [ORDO Disease]
- Generalized pustular psoriasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DITRA [MedDRA LLT]
- Deficiency of interleukin 36 receptor antagonist (disorder) [SNOMED CT concept]
- Deficiency of the Interleukin-36 Receptor Antagonist [NCIt concept]
- Deficiency of the interleukin-36 receptor antagonist [MedDRA Preferred Term]
- Generalized pustular psoriasis [ICD-10 Sub-category (who)]
- Generalized pustular psoriasis [ORDO Disease]
- Generalized pustular psoriasis [ICD-10 Sub-category]
- Generalized pustular psoriasis (disorder) [SNOMED CT concept]
- generalized pustular psoriasis [Disease (Nov.)]

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