ORPHA:688543
T-B-NK- reticular dysgenesis-like severe combined immunodeficiency
Synonyms: Activated RAC2-associated severe combined immunodeficiency · Activated Rac2 defect · Non-syndromic reticular dysgenesis · T-B-NK- reticular dysgenesis-like SCID
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- 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- reticular dysgenesis-like severe combined immunodeficiency | Activated RAC2-associated severe combined immunodeficiency · Activated Rac2 defect · Non-syndromic reticular dysgenesis · T-B-NK- reticular dysgenesis-like SCID |
| fr | Déficit immunitaire combiné sévère T-B-NK- dysgénésie réticulaire-like | Dysgénésie réticulaire non syndromique · Déficit immunitaire combiné sévère dû à des mutations activatrices de RAC2 · IDCS T-B-NK- dysgénésie réticulaire-like · Immunodéficience combinée sévère dysgénésie réticulaire-like · SCID T-B-NK- dysgénésie réticulaire-like |
| de | RAC2-assoziierter schwerer kombinierter Immundefekt bei aktiviertem RAC2 | Nicht-syndromale retikuläre Dysgenesie · T-B-NK- SCID, RAC2-assoziiert · Retikuläre Dysgenesie-artiger schwerer kombinierter Immundefekt bei aktiviertem RAC2 |
| es | Inmunodeficiencia combinada grave similar a la disgenesia reticular T-B-NK- | IDCG similar a la disgenesia reticular T-B-NK- · SCID similar a la disgenesia reticular T-B-NK- · Defecto por activación de Rac2 · Disgenesia reticular no sindrómica · Inmunodeficiencia combinada grave por activación de RAC2 |
| it | Immunodeficienza combinata grave simil-disgenesia reticolare T-B-NK | Difetto da attivazione di Rac2 · Disgenesia reticolare non sindromica · SCID simil-disgenesia reticolare T-B-NK- · Immunodeficienza combinata grave correlata all'attivazione di RAC2 |
| nl | T-B-NK- reticulaire dysgenesie-achtige ernstige gecombineerde immuundeficiëntie | Ernstige gecombineerde immuundeficiëntie geassocieerd met geactiveerd RAC2 · Geactiveerd Rac2-defect · Niet-syndromale reticulaire dysgenesie · T-B-NK- reticulaire dysgenesie-achtige SCID |
| pt | Imunodeficiência combinada grave disgenesia reticular-like | Defeito de ativação Rac2 · Disgenesia reticular não-sindrómica · Imunodeficiência combinada grave associada a ativação RAC2 · SCID disgenesia reticular-like |
| pl | Ciężki złożony niedobór odporności przypominający dysgenezję retikularnąi | = en |
| cs | Těžká kombinovaná imunodeficience připomínající retikulární dysgenezi | = en |
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:720294T-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 |
|---|---|---|---|---|---|---|---|---|
| RAC2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9802 | ENSG00000128340 | 602049 | 22q13.1 | Rac family small GTPase 2 | 31919089[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/688543
- This record as JSON: /data/d/688543.json