Familial isolated congenital asplenia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPOSPLENIA, ISOLATED CONGENITAL ASPLENIA, FAMILIAL SPLENIC HYPOPLASIA ICAS |
| Number of Symptoms | 9 |
| OrphanetNr: | 101351 |
| OMIM Id: |
271400
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| ICD-10: |
Q89.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Infantile onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic visceral malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Primary immunodeficiency due to a defect in adaptive immunity -Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0001746) | Asplenia | 19 / 7739 | ||||
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(HPO:0001894) | Thrombocytosis | rare [HPO:skoehler] | 16 / 7739 | |||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Hyposplenia | 2 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Howell-Jolly bodies seen in peripheral blood smear | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Recurrent severe and invasive bacterial infections | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Kevy et al. (1968) described a sibship, with consanguineous parents, in which 1 of 2 boys and 2 of 3 girls had splenic hypoplasia. One of the children died at 10 months of overwhelming haemophilus influenzae sepsis. The ... |
| Molecular genetics OMIM |
Bolze et al. (2013) studied 33 patients with isolated congenital asplenia from 23 kindreds, including 5 kindreds previously reported by Mahlaoui et al. (2011) and the family described by Ferlicot et al. (1997). They identified 7 different heterozygous ... |
| Population genetics OMIM | Mahlaoui et al. (2011) estimated the incidence of congenital asplenia to be 0.51 per 1 million births in France, based on birth records between 1957 and 2006. |