Periodic fever, immunodeficiency, and thrombocytopenia syndrome

Preferred Label : Periodic fever, immunodeficiency, and thrombocytopenia syndrome;

Symbol : PFITS;

CISMeF acronym : PFITS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lazy leukocyte syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein 1 gene (WDR1, 604734.0001);

Prefixed ID : #150550;

Details

Origin ID

150550;

UMLS CUI

C0272174;

Currated CISMeF NLP mapping
- Lazy leukocyte syndrome (disorder) [SNOMED CT concept]
- lazy leukocyte syndrome [SNOMED Notion]
- lazy leukocyte syndrome [MeSH concept]
- lazy leukocyte syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Wd repeat-containing protein 1 [OMIM gene]
HPO term(s)
- Abnormal CD4:CD8 ratio [HPO term]
- Abscess [HPO term]
- All cases sporadic [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Chronic oral candidiasis [HPO term]
- Diarrhea [HPO term]
- Intermittent thrombocytopenia [HPO term]
- Lymphadenopathy [HPO term]
- Neutropenia [HPO term]
- Pyoderma gangrenosum [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Recurrent pneumonia [HPO term]
- Specific learning disability [HPO term]
- Splenomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lazy leukocyte syndrome (disorder) [SNOMED CT concept]
- lazy leukocyte syndrome [MeSH Supplementary Concept]
- lazy leukocyte syndrome [SNOMED Notion]
- lazy leukocyte syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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