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Splenic Hypoplasia MeSH Supplementary Concept Data 2024


MeSH Supplementary
Splenic Hypoplasia
Unique ID
C563028
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C563028
Entry Term(s)
Asplenia, Familial
Hyposplenia, Isolated Congenital
Registry Number
0
Previous Indexing
IMMUNOLOGIC DEFICIENCY SYNDROMES (2014-2019)
Heading Mapped to
*Primary Immunodeficiency Diseases
Spleen / *abnormalities
Frequency
24
Note
A rare hereditary autosomal dominant 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. Mutations in the RPSA gene have been identified. OMIM: 271400
Date of Entry
2012/11/05
Revision Date
2019/06/17
Splenic Hypoplasia Preferred
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