ORPHA:319569
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Synonyms: Autosomal recessive MSMD due to partial IFNgammaR1 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency · Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | Autosomal recessive MSMD due to partial IFNgammaR1 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency · Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency |
| fr | Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel en IFNgammaR1 | MSMD autosomique récessive par déficit partiel en IFNgammaR1 · MSMD autosomique récessive par déficit partiel en récepteur 1 de l'interféron gamma |
| de | Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R1-Defekt | MSMD durch partiellen IFNgammaR1-Defekt, autosomal-rezessiv · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem IFN-gRezeptor 1-Mangel, autosomal-rezessiv |
| es | Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por deficiencia parcial del IFNgammaR1 | MSMD autosómica recesiva por deficiencia parcial del IFNgammaR1 · MSMD autosómica recesiva por deficiencia parcial del receptor 1 del interferón-gamma |
| it | Suscettibilità mendeliana autosomica recessiva a malattie micobatteriche da deficit parziale di IFNgammaR1 | MSMD autosomica recessiva da deficit parziale del recettore dell'interferone gamma 1 · MSMD autosomica recessiva da deficit parziale di IFNgammaR1 · Suscettibilità mendeliana autosomica recessiva a micobatteriosi da deficit parziale del recettore dell'interferone gamma 1 |
| nl | Autosomaal recessieve Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële IFNgammaR1-deficiëntie | Autosomaal recessieve MSMD door partiële IFNgammaR1-deficiëntie · Autosomaal recessieve MSMD door partiële interferon-gamma receptor 1-deficiëntie · Autosomaal recessieve Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële interferon-gamma receptor 1-deficiëntie |
| pt | Suscetibilidade mendeliana autossómica recessiva para doenças micobacterianas por deficiência parcial de IFNgamaR1 | |
| pl | Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru IFNgammaR1 | Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru receptora 1 interferonu gamma · Autosomalna recesywna MSMD z powodu częściowego niedoboru IFNgammaR1 · Autosomalna recesywna MSMD z powodu częściowego niedoboru receptora 1 interferonu gamma |
| cs | Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená částečným IFNgammaR1 deficitem | Autozomálně recesivní MSMD způsobená částečným IFNgammaR1 deficitem · Autozomálně recesivní MSMD způsobená částečným deficitem gama receptoru 1 interferonu · Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem gama receptoru 1 interferonu |
| uk | Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту IFNgammaR1 | Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань через частковий дефіцит рецептора гамма-інтерферону 1 · Аутосомно-рецесивна MSMD внаслідок часткового дефіциту IFNgammaR1 · Аутосомно-рецесивна MSMD внаслідок часткової недостатності рецептора гамма-інтерферону 1 |
| zh | IFNγR1基因部分缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病 | 常染色体隐性遗传干扰素γ受体1部分缺陷所致易感分枝杆菌病 |
| tr | Kısmi IFNgammaR1 eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık | Kısmi IFNgammaR1 eksikliğine bağlı otozomal çekinik MSMD · Kısmi interferon gama reseptör 1 eksikliğine bağlı otozomal çekinik MSMD · Kısmi interferon gama reseptör 1 eksikliğine bağlı mikobakteriyel hastalıklara otozomal çekinik Mendelian duyarlılık |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209950 | NTBT | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0017901 | E | validated | |
| UMLS | C4511091 | 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:319539Autosomal recessive 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 |
|---|---|---|---|---|---|---|---|---|
| IFNGR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5439 | ENSG00000027697 | 107470 | 6q23.3 | interferon gamma receptor 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 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
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/319569
- This record as JSON: /data/d/319569.json