Immunodeficiency 54

Preferred Label : Immunodeficiency 54;

Symbol : IMD54;

CISMeF acronym : IMD54; NKCD; NKGCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NKGCD; NKCD; Natural killer cell and glucocorticoid deficiency with dna repair defect; Natural killer cell deficiency, familial isolated;

Description : Natural killer cell and glucocorticoid deficiency with DNA repair defect is an autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of NK cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer (summary by Gineau et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. Cerevisiae minichromosome maintenance 4 gene (MCM4, 602638.0001);

Neoplasia : Increased susceptibility to cancer; Lymphoproliferative disorders;

Laboratory abnormalities : Increased ACTH; Cell studies show increased DNA breakage;

Prefixed ID : #609981;

Details

Origin ID

609981;

UMLS CUI

C1864947;

Automatic exact mappings (from CISMeF team)
- MCM4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect [NCIt concept]
- Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) [SNOMED CT concept]
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [ORDO Disease]
- immunodeficiency 54 [DO Concept]
- natural killer cell deficiency, familial isolated [MeSH concept]
- natural killer cell deficiency, familial isolated [MeSH Supplementary Concept]
DO Cross reference
- immunodeficiency 54 [DO Concept]
Genes related to phenotype
- Minichromosome maintenance complex component 4 [OMIM gene]
HPO term(s)
- Adrenal insufficiency [HPO term]
- Adrenocorticotropic hormone excess [HPO term]
- Autosomal recessive inheritance [HPO term]
- Caesarian section [HPO term]
- Chromosome breakage [HPO term]
- Failure to thrive [HPO term]
- Hepatomegaly [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Intrauterine growth retardation [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoproliferative disorder [HPO term]
- Microcephaly [HPO term]
- Mild global developmental delay [HPO term]
- Postnatal growth retardation [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent viral infections [HPO term]
- Reduced natural killer cell count [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect [NCIt concept]
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [ORDO Disease]
- immunodeficiency 54 [DO Concept]
- natural killer cell deficiency, familial isolated [MeSH Supplementary Concept]
- natural killer cell deficiency, familial isolated [MeSH concept]

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