ORPHA:99898
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Synonyms: MSMD due to complete IFNgammaR1 deficiency · MSMD due to complete interferon gamma receptor 1 deficiency · Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal 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 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | MSMD due to complete IFNgammaR1 deficiency · MSMD due to complete interferon gamma receptor 1 deficiency · Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR1 | MSMD par déficit complet en IFNgammaR1 · MSMD par déficit complet en récepteur 1 de l'interféron gamma · Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur 1 de l'interféron gamma |
| de | Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R1-Defekt | MSMD durch kompletten IFN-gamma-R1-Defekt · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interferon-Gamma-Rezeptor 1-Mangel |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del IFNgammaR1 | |
| it | Suscettibilità mendeliana alle malattie micobatteriche da deficit completo di IFNgammaR1 | MSMD da deficit completo del recettore dell'interferone gamma 1 · MSMD da deficit completo di IFNgammaR1 · Suscettibilità mendeliana alle malattie micobatteriche da deficit completo del recettore dell'interferone gamma 1 |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IFNgammaR1-deficiëntie | MSMD door volledige IFNgammaR1-deficiëntie · MSMD door volledige interferon-gamma receptor 1-deficiëntie · Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige interferon-gamma receptor 1-deficiëntie |
| pt | Suscetibilidade mendeliana a doenças micobacterianas por deficiência completa de IFNgamaR1 | MSMD por deficiência completa de IFNgamaR1 · MSMD por deficiência completa de recetor 1 de interferon gama · Suscetibilidade mendeliana a doenças micobacterianas por deficiência completa de recetor 1 de interferon gama |
| pl | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru IFNgammaR1 | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora 1 interferonu gamma · MSMD z powodu całkowitego niedoboru IFNgammaR1 · MSMD z powodu całkowitego niedoboru receptora 1 interferonu gamma |
| cs | Dědičný sklon k mykobakteriálním nemocem způsobený úplným deficitem IFN-gamaR1 | MSMD způsobená úplným deficitem IFN-gamaR1 · MSMD způsobená úplným deficitem receptoru 1 interferonu gama · Dědičný sklon k mykobakteriálním nemocem způsobený úplným deficitem receptoru 1 interferonu gama |
| uk | Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту IFNgammaR1 | Менделіанська сприйнятливість до мікобактеріальних захворювань внаслідок повного дефіциту рецептора гамма-інтерферону 1 · MSMD внаслідок повного дефіциту IFNgammaR1 · MSMD внаслідок повного дефіциту рецептора гамма-інтерферону 1 |
| zh | IFN-γR2完全缺乏所致孟德尔遗传易感性分枝杆菌病 | 干扰素γ受体1完全缺乏所致MSMD |
| tr | Tam IFNgamaR1 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık | Tam interferon gama reseptörü 1 eksikliğine bağlı mikobakteriyel hastalıklara Mendelyen yatkınlık · Tam IFNgammaR1 eksikliğine bağlı MSMD · Tam interferon gama reseptörü 1 eksikliğine bağlı MSMD |
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 | 0020530 | E | validated | |
| MeSH | C535530 | E | validated | |
| UMLS | C4011949 | E | validated | |
| GARD | 9185 | 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:319535Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25453225[PMID] |
| Cases/families | 31 cases | Worldwide | Case(s) | Validated | 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/99898
- This record as JSON: /data/d/99898.json