ORPHA:275517
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
Synonyms: ALPS-recurrent viral infections due to CASP8 deficiency · Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency · CEDS · Caspase 8 deficiency syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency | ALPS-recurrent viral infections due to CASP8 deficiency · Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency · CEDS · Caspase 8 deficiency syndrome |
| fr | Syndrome lymphoprolifératif auto-immun-infections virales récurrentes par déficit en CASP8 | ALPS-infections virales récurrentes par déficit en CASP8 · CEDS · SLAI-infections virales récurrentes par déficit en CASP8 · Syndrome de déficit en caspase 8 · Syndrome lymphoprolifératif auto-immun-infections virales récurrentes par déficit en caspase 8 · Syndrome lymphoprolifératif avec auto-immunité-infections virales récurrentes par déficit en CASP8 |
| de | Autoimmun-lymphoproliferatives Syndrom mit rezidivierenden Infekten durch CASP8-Defizienz | ALPS-rezidivierende virale Infektionen aufgrund von CASP8-Mangel · CEDS · Caspase 8-Mangel-Syndrom · Caspase-8-Defizienz |
| es | Síndrome linfoproliferativo autoinmune-infecciones virales recurrentes por deficiencia de CASP8 | SLPA-infecciones virales recurrentes por deficiencia de CASP8 · Síndrome de deficiencia de caspasa 8 · Síndrome linfoproliferativo autoinmune-infecciones virales recurrentes por deficiencia de caspasa 8 |
| it | Sindrome linfoproliferativa autoimmune con infezioni virali ricorrenti dovute a deficit di caspasi 8 | CEDS · Simile ad ALPS · ALPS con infezioni virali ricorrenti da deficit di CASP8 · Sindrome da deficit di caspasi 8 · Sindrome linfoproliferativa autoimmune con infezioni virali ricorrenti da deficit della caspasi 8 |
| nl | Auto-immuun lymfoproliferatief syndroom-recidiverende virale infecties door CASP8-deficiëntie | ALPS-recidiverende virale infecties door CASP8-deficiëntie · Auto-immuun lymfoproliferatief syndroom-recidiverende virale infecties door deficiëntie van Caspase8 · CEDS · Caspase 8-deficiëntiesyndroom |
| pt | Síndrome linfoproliferativa autoimune-infeções virais recorrentes devido a deficiência CASP8 | CEDS · Infeções víricas ALPS-recorrentes devido a deficiência CASP8 · Síndrome de deficiência caspase 8 · Síndrome linfoproliferativa autoimune-infeções virais recorrentes devido a deficiência de caspase 8 |
| pl | Autoimmunologiczny zespół limfoproliferacyjny – nawracające infekcje wirusowe spowodowane niedoborem CASP8 | ALPS z nawracającymi infekcjami · CEDS · Stan niedoboru kaspazy ósmej · Zespół niedoboru kaspazy 8 |
| cs | Autoimunitní lymfoproliferativní syndrom s rekurentními virovými infekcemi | ALPS s rekurentními virovými infekcemi · CEDS · Syndrom deficitu kaspázy 8 · Stav deficitu kaspázy 8 |
| uk | Аутоімунний лімфопроліферативний синдром - рецидивуючі вірусні інфекції через дефіцит CASP8 | ALPS-рецидивуючі вірусні інфекції, спричинені дефіцитом CASP8 · Аутоімунний лімфопроліферативний синдром - рецидивуючі вірусні інфекції, спричинені дефіцитом каспази 8 · Синдром дефіциту каспази 8 · CEDS |
| zh | 自身免疫性淋巴细胞增生综合征伴复发性病毒感染 | ALPS伴复发性病毒感染 |
| tr | Tekrarlayan viral enfeksiyonlar ile seyreden otoimmün lenfoproliferatif sendrom | CEDS · Kaspaz 8 eksikliği sendromu · Tekrarlayan viral enfeksiyonlar ile seyreden ALPS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607271 | E | validated | |
| ICD-10 | D47.9 | NTBT | attributed | validated |
| ICD-11 | 4A01.22 | NTBT | index | validated |
| MONDO | 0011804 | E | validated | |
| UMLS | C1846545 | E | validated | |
| GARD | 9796 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CASP8 | Disease-causing germline mutation(s) in | Assessed | HGNC:1509 | ENSG00000064012 | 601763 | 2q33.1 | caspase 8 | 21447005[PMID]_16446975[PMID]_20301287[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12353035[PMID] |
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 12353035[PMID]_Dr Koneti RAO[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275517
- This record as JSON: /data/d/275517.json