ORPHA:319600
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Synonyms: MSMD due to partial IRF8 deficiency · MSMD due to partial interferon regulatory factor 8 deficiency · Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | MSMD due to partial IRF8 deficiency · MSMD due to partial interferon regulatory factor 8 deficiency · Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en IRF8 | MSMD par déficit partiel en IRF8 · MSMD par déficit partiel en facteur 8 régulateur de l'interféron · Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en facteur 8 régulateur de l'interféron |
| de | Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt | MSMD durch partiellen IRF8-Defekt · MSMD durch partiellen Interferon-Regulationsfaktor 8-Mangel · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei IRF8-Mangel |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial del IRF89 | MSMD por deficiencia parcial del IRF89 · MSMD por deficiencia parcial del factor regulador del interferón 8 · Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial del factor regulador de interferón 8 |
| it | Suscettibilità mendeliana a malattie micobatteriche da deficit parziale di IRF8 | MSMD da deficit parziale del fattore regolatore dell'interferone 8 · MSMD da deficit parziale di IRF8 · Suscettibilità mendeliana a malattie micobatteriche da deficit del fattore regolatore dell'interferone 8 |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële IRF8-deficiëntie | MSMD door partiële IRF8-deficiëntie · MSMD door partiële interferon-regulerende factor 8-deficiëntie · Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële interferon-regulerende factor 8-deficiëntie |
| pt | Suscetibilidade mendeliana a doenças micobacterianas por deficiência parcial de IRF8 | |
| pl | Mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru IRF8 | Mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru regulatorowego czynnika interferonu 8 · MSMD z powodu częściowego niedoboru IRF8 · MSMD z powodu częściowego niedoboru regulatorowego czynnika interferonu 8 |
| cs | Genetická vnímavost k mykobakteriální infekci způsobená částečným IRF8 deficitem | MSMD způsobená částečným IRF8 deficitem · MSMD způsobená částečným deficitem regulačního faktoru 8 interferonu · Genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem regulačního faktoru 8 interferonu |
| uk | Менделевська сприйнятливість до мікобактеріальних захворювань внаслідок часткового дефіциту IRF8 | Менделевська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту регуляторного фактора 8 інтерферону · MSMD внаслідок часткового дефіциту регуляторного фактору 8 інтерферону · MSMD через частковий дефіцит IRF8 |
| zh | IRF8基因部分缺陷所致孟德尔遗传易感分枝杆菌病 | 干扰素调节因子8部分缺陷所致MSMD |
| tr | Kısmi IRF8 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık | Kısmi interferon düzenleyici faktör 8 eksikliğine bağlı mikobakteriyel hastalıklara Mendelian duyarlılığı · Kısmi IRF8 eksikliği nedeniyle MSMD · Kısmi interferon düzenleyici faktör 8 eksikliğine bağlı MSMD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614893 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | attributed | validated |
| MONDO | 0013957 | E | validated | |
| UMLS | C4509854 | 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 (1):
- ORPHA:319543Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRF8 | Disease-causing germline mutation(s) in | Assessed | HGNC:5358 | ENSG00000140968 | 601565 | 16q24.1 | interferon regulatory factor 8 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25453225[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25453225[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.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0001945 | Fever | |
| HP:0002716 | Lymphadenopathy | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319600
- This record as JSON: /data/d/319600.json