Autoinflammation with arthritis and dyskeratosis

Preferred Label : Autoinflammation with arthritis and dyskeratosis;

Symbol : AIADK;

CISMeF acronym : AIADK;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the NLR family, pyrin domain-containing-1 gene (NLRP1, 606636.0006);

Laboratory abnormalities : Hypereosinophilia; Persistently elevated C-reactive protein (CRP); Reduced levels of retinal-binding protein; Reduced levels of vitamin A; Reduced levels of vitamin C;

Prefixed ID : #617388;

Details

Origin ID

617388;

UMLS CUI

C4479278;

Automatic exact mappings (from CISMeF team)
- NLRP1 wt Allele [NCIt concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 1 [OMIM gene]
HPO term(s)
- Antinuclear antibody positivity [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal neovascularization [HPO term]
- Dry skin [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Epidermal acanthosis [HPO term]
- Failure to thrive [HPO term]
- Follicular hyperkeratosis [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Hypereosinophilia [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgG level [HPO term]
- Infantile onset [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Laryngeal papilloma [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Photophobia [HPO term]
- Polyarticular arthritis [HPO term]
- Punctate keratitis [HPO term]
- Recurrent fever [HPO term]
- Splenomegaly [HPO term]
- Thyroiditis [HPO term]
- Uveitis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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