ORPHA:720371
T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency | |
| fr | Déficit immunitaire combiné sévère T-B+NK+ par déficit en LCP2 | |
| de | Immundefekt, kombinierter schwerer, T-B+NK+, durch LCP2-Mangel | T-B+NK+ SCID durch LCP2-Defizienz |
| es | Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de LCP2 | |
| it | T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency | |
| nl | T-B+NK+ ernstige gecombineerde immuundeficiëntie door LCP2-deficiëntie | T-B+NK+ SCID door LCP2-deficiëntie · T-B+NK+ ernstige gecombineerde immuundeficiëntie door deficiëntie van 'lymphocyte cytosolic protein 2' · T-cel negatieve B-cel positieve NK-cel positieve ernstige gecombineerde immuundeficiëntie door LCP2-deficiëntie |
| pt | T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency | |
| pl | T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency | |
| cs | T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:720280T-B+NK+ severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LCP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6529 | 5q35.1 | lymphocyte cytosolic protein 2 | 33231617[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/720371
- This record as JSON: /data/d/720371.json