Immunodeficiency 8 with lymphoproliferation

Preferred Label : Immunodeficiency 8 with lymphoproliferation;

Symbol : IMD8;

CISMeF acronym : IMD8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coronin 1A gene (CORO1A, 605000.0001);

Neoplasia : EBV-induced B-cell lymphoma;

Laboratory abnormalities : Shortened telomeres (1 patient);

Prefixed ID : #615401;

Details

Origin ID

615401;

UMLS CUI

C3809383;

Automatic exact mappings (from CISMeF team)
- CORO1A wt Allele [NCIt concept]
- Severe combined immunodeficiency due to CORO1A deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Severe combined immunodeficiency due to coronin 1A deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- coronin-1A deficiency [DO Concept]
Genes related to phenotype
- Coronin 1a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Lymphopenia [HPO term]
- Recurrent respiratory infections [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to CORO1A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency due to coronin 1A deficiency (disorder) [SNOMED CT concept]

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