Immunodeficiency 80 with or without congenital cardiomyopathy

Preferred Label : Immunodeficiency 80 with or without congenital cardiomyopathy;

Symbol : IMD80;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mcm10 deficiency;

Prefixed ID : #619313;

Details

Origin ID

619313;

UMLS CUI

C5543344;

Genes related to phenotype
- Minichromosome maintenance complex component 10 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Decreased lymphocyte proliferation in response to anti-CD3 [HPO term]
- Diarrhea [HPO term]
- Endocardial fibroelastosis [HPO term]
- Fetal onset [HPO term]
- Fever [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypofibrinogenemia [HPO term]
- Hypoplasia of the thymus [HPO term]
- Hypoplastic spleen [HPO term]
- Immunodeficiency [HPO term]
- Impaired lymphocyte transformation with phytohemagglutinin [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Pericardial effusion [HPO term]
- Reduced natural killer cell count [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Right atrial enlargement [HPO term]
- Severe cytomegalovirus infection [HPO term]
- T lymphocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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