Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia

Preferred Label : Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia;

Symbol : AICZC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hzhc syndrome; Hyperzincemia with functional zinc depletion; Hyperzincemia and hypercalprotectinemia;

Inheritance : ? Autosomal dominant;

Prefixed ID : #601979;

Details

Origin ID

601979;

UMLS CUI

C1865986;

Currated CISMeF NLP mapping
- hyperzincemia with functional zinc depletion [MeSH concept]
- hyperzincemia with functional zinc depletion [MeSH Supplementary Concept]
Genes related to phenotype
- Proline/serine/threonine phosphatase-interacting protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Diarrhea [HPO term]
- Hepatomegaly [HPO term]
- Immunodeficiency [HPO term]
- Increased serum zinc [HPO term]
- Osteoporosis [HPO term]
- Severe growth failure [HPO term]
- Skin rash [HPO term]
- Vasculitis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperzincemia with functional zinc depletion [MeSH Supplementary Concept]
- hyperzincemia with functional zinc depletion [MeSH concept]

Keyword's position in hierarchy(ies) :

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