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GTR Home > Conditions/Phenotypes > Familial isolated congenital asplenia

Familial isolated congenital asplenia

Synonyms
ASPLENIA, FAMILIAL; Asplenia, isolated congenital; HYPOSPLENIA, ISOLATED CONGENITAL
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Isolated congenital asplenia (ICAS) is a rare cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome (208530) (summary by Mahlaoui et al., 2011). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 37LRP, 67LR, ICAS, LAMBR, LAMR1, LBP, LBP/p40, LRP, LRP/LR, NEM/1CHD4, SA, lamR, p40, uS2, RPSA
    Summary: ribosomal protein SA

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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