X-linked lymphoproliferative disease due to SAP deficiency
Synonyms: X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency · X-linked lymphoproliferative syndrome type 1 · XLP1 · X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked <i>SH2D1A</i> gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked lymphoproliferative disease due to SAP deficiency | X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency · X-linked lymphoproliferative syndrome type 1 · XLP1 · X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency |
| fr | Maladie lymphoproliférative liée à l'X par déficit en SAP | Maladie lymphoproliférative liée à l'X par déficit en SH2D1A · Maladie lymphoproliférative liée à l'X par déficit en protéine SH2 domain containing 1A · Maladie lymphoproliférative liée à l'X par déficit en protéine Signaling lymphocyte activation molecule-associated protein · Maladie lymphoproliférative liée à l'X type 1 · Syndrome lymphoprolifératif lié à l'X type 1 · XLP1 |
| de | X-chromosomales lymphoproliferatives Syndrom durch SAP-Mangel | SAP-Defizienz · X-chromosomale lymphoproliferative Störung durch Defizienz des SLAM-assoziierten Proteins · X-chromosomales lymphoproliferatives Syndrom Typ 1 · X-chromosomales lymphoproliferatives Syndrom durch SH2D1A-Mangel · XLP1 |
| es | Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia de SAP | Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia de SH2D1A · Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia de la proteína asociada a la molécula linfocitaria activadora de señales · Enfermedad linfoproliferativa ligada al cromosoma X por deficiencia del dominio SH2 que contiene la proteína 1A · Síndrome linfoproliferativo ligado al cromosoma X tipo 1 · XLP1 |
| it | Malattia linfoproliferativa legata all'X da deficit di SAP | Malattia linfoproliferativa legata all'X da deficit della proteina 1A contenente il dominio SH2 · Malattia linfoproliferativa legata all'X da deficit della proteina associata alla molecola di segnalazione dell'attivazione dei linfociti · Malattia linfoproliferativa legata all'X da deficit di SH2D1A · Malattia linfoproliferativa legata all'X tipo 1 · XLP1 |
| nl | X-gebonden lymfoproliferatieve ziekte door SAP-deficiëntie | X-gebonden lymfoproliferatief syndroom type 1 · X-gebonden lymfoproliferatieve ziekte door SH2D1A-deficiëntie · X-gebonden lymfoproliferatieve ziekte door deficiëntie van 'SH2 domain containing 1A'-proteïne · X-gebonden lymfoproliferatieve ziekte door deficiëntie van 'Signaling lymphocyte activation molecule'-geassocieerd proteïne · XLP1 |
| pt | Doença linfoproliferativa ligada ao X devido a deficiência SAP | Doença linfoproliferativa ligada ao X devido a deficiência SH2D1A · Doença linfoproliferativa ligada ao X devido a deficiência XIAP · Doença linfoproliferativa ligada ao X devido a deficiência do domínio SH2 que contem a proteína 1A · Doença linfoproliferativa ligada ao X devido à deficiência de proteína associada à molécula de ativação de linfócitos de sinalização · XLP1 |
| pl | Choroba limfoproliferacyjna sprzężona z chromosomem X spowodowana niedoborem SAP | = en |
| cs | X-vázané lymfoproliferativní onemocnění způsobené deficitem SH2D1A | XLP1 · SAP deficit · Deficit proteinu související s SH2D1A/SLAM · X-vázaný lymfoproliferativní syndrom, typ 1 |
| uk | Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом SAP | Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом SH2 домену, що містить білок 1A · Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом SH2D1A · Х-зчеплене лімфопроліферативне захворювання, зумовлене дефіцитом білка, асоційованого з сигнальною молекулою активації лімфоцитів · Х-зчеплений лімфопроліферативний синдром, тип 1 · XLP1 |
| zh | SH2D1A基因缺陷诱导的X连锁淋巴组织增生性疾病 | X连锁淋巴组织增生综合征1型 |
| tr | SH2D1A eksikliğine bağlı X'e bağlı lenfoproliferatif hastalık | XLP1 · SAP eksikliği · SH2D1A/SLAM ilişkili protein eksikliği · X'e bağlı lenfoproliferatif sendrom tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308240 | E | validated | |
| ICD-10 | D82.3 | NTBT | attributed | validated |
| ICD-11 | 4A01.22 | NTBT | index | validated |
| MONDO | 0024551 | E | validated | |
| UMLS | C5399825 | 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 (3):
- ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:2442X-linked lymphoproliferative disease
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SH2D1A | Disease-causing germline mutation(s) in | Assessed | HGNC:10820 | ENSG00000183918 | 300490 | Xq25 | SH2 domain containing 1A | 20301580[PMID]_28196537[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 29942301[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29942301[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/538931
- This record as JSON: /data/d/538931.json