Lymphoproliferative syndrome 3

Preferred Label : Lymphoproliferative syndrome 3;

Symbol : LPFS3;

CISMeF acronym : LPFS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cd70 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD70 molecule gene (CD70, 602840.0001);

Neoplasia : EBV-associated Hodgkin lymphoma; Lymphoproliferative disorders; Possibly increased risk of solid tumors in heterozygous carriers;

Prefixed ID : #618261;

Details

Origin ID

618261;

UMLS CUI

C5568559;

Currated CISMeF NLP mapping
- CD70 Deficiency [NCIt concept]
- Combined immunodeficiency due to CD70 deficiency [ORDO Disease]
- Combined immunodeficiency due to CD70 deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Cd70 antigen [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating antibody level [HPO term]
- Hepatosplenomegaly [HPO term]
- Hodgkin lymphoma [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoproliferative disorder [HPO term]
- Partial absence of specific antibody response to tetanus vaccine [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Reduced natural killer cell count [HPO term]
- Severe varicella zoster infection [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to CD70 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CD70 Deficiency [NCIt concept]
- Combined immunodeficiency due to CD70 deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients