Familial isolated congenital asplenia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated congenital asplenia | |
| fr | Asplénie congénitale familiale isolée | |
| de | Asplenie, familiäre isolierte, kongenitale | |
| es | Asplenia congénita familiar aislada | |
| it | Asplenia congenita isolata familiare | |
| nl | Familiale geïsoleerde congenitale asplenie | |
| pt | Asplenia | |
| pl | Rodzinna izolowana wrodzona asplenia | |
| cs | Familiární vrozená izolovaná asplenie | |
| uk | Сімейна ізольована вроджена аспленія | |
| zh | 家族性散发性先天性无脾症 | |
| tr | Ailesel izole Doğumsal aspleni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271400 | E | validated | |
| ICD-10 | Q89.0 | NTBT | attributed | validated |
| ICD-11 | LB22.0 | NTBT | specific | validated |
| MONDO | 0010066 | E | validated | |
| UMLS | C4512055 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:108971Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:331193Other immunodeficiency syndromes due to defects in innate immunity
rare genetic diseases; rare immunological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NKX2-5 | Disease-causing germline mutation(s) in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 22560297[PMID] |
| RPSA | Disease-causing germline mutation(s) in | Assessed | HGNC:6502 | ENSG00000168028 | 150370 | 3p22.1 | ribosomal protein SA | 23579497[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101351
- This record as JSON: /data/d/101351.json