Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Synonyms: Autosomal dominant MSMD due to a partial deficiency
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Status
- active
A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency | Autosomal dominant MSMD due to a partial deficiency |
| fr | Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel | |
| de | Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen Defekt | Autosomal-dominante MSMD durch partiellen Defekt · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem Mangel, autosomal-dominant |
| es | Susceptibilidad mendeliana autosómica dominante a enfermedades micobacterianas por deficiencia parcial | MSMD autosómica dominante por un deficiencia parcial |
| it | Suscettibilità mendeliana autosomica dominante a malattie micobatteriche da deficit parziale | MSMD autosomica dominante da deficit parziale |
| nl | Autosomaal dominante mendeliaanse gevoeligheid voor mycobacteriële ziekten door een partiële deficiëntie | Autosomaal dominante MSMD door een partiële deficiëntie |
| pt | Suscetibilidade mendeliana autossómica dominante a doenças micobacterianas por deficiência parcial | |
| pl | Autosomalna dominująca mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru | Autosomalna dominująca MSMD z powodu częściowego niedoboru |
| cs | Autozomálně dominantní genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem | Autozomálně dominantní MSMD způsobená částečným deficitem |
| uk | Аутосомно-домінантна менделівська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту | Аутосомно-домінантна MSMD внаслідок часткового дефіциту |
| zh | 部分缺陷所致孟德尔常染色体显性遗传易感分枝杆菌病 | 部分缺陷所致常染色体显性遗传MSMD |
| tr | Kısmi bir eksikliğe bağlı olarak mikobakteriyel hastalıklara otozomal dominant Mendel tipi yatkınlık | Kısmi eksikliğe bağlı otozomal dominant MSMD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17899 | E | validated | |
| UMLS | C5679889 | 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 (1):
- ORPHA:748Mendelian susceptibility to mycobacterial diseases
rare genetic diseases; rare immunological diseases
Children (4):
- ORPHA:319581Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- ORPHA:319589Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
- ORPHA:319600Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
- ORPHA:319595Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319543
- This record as JSON: /data/d/319543.json