Asplenia, isolated congenital

Preferred Label : Asplenia, isolated congenital;

Symbol : ICAS;

CISMeF acronym : ICAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Splenic hypoplasia; Hyposplenia, isolated congenital; Asplenia, familial;

Description : Isolated congenital asplenia 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein SA gene (RPSA, 150370.0001);

Laboratory abnormalities : Howell-Jolly bodies seen in peripheral blood smear; Thrombocytosis (in some patients);

Prefixed ID : #271400;

Details

Origin ID

271400;

UMLS CUI

C0685889;

Automatic exact mappings (from CISMeF team)
- Antibody to islet cells of pancreas measurement (procedure) [SNOMED CT concept]
- ICAS [LOINC method]
- splenic hypoplasia [MeSH concept]
- splenic hypoplasia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Familial isolated congenital asplenia [ORDO Disease]
- Familial isolated congenital asplenia (disorder) [SNOMED CT concept]
Genes related to phenotype
- Ribosomal protein sa [OMIM gene]
HPO term(s)
- Asplenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Howell-Jolly bodies [HPO term]
- Infantile onset [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- Familial isolated congenital asplenia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hypoplasia of spleen (disorder) [SNOMED CT concept]
- Familial isolated congenital asplenia [ORDO Disease]
- Hypoplasia of spleen (disorder) [SNOMED CT concept]
- congenital hypoplasia of spleen [SNOMED Notion]
- splenic hypoplasia [MeSH Supplementary Concept]
- splenic hypoplasia [MeSH concept]

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