ORPHA:319547
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Synonyms: MSMD due to complete IFNgammaR2 deficiency · MSMD due to complete interferon gamma receptor 2 deficiency · Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 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 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency | MSMD due to complete IFNgammaR2 deficiency · MSMD due to complete interferon gamma receptor 2 deficiency · Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR2 | MSMD par déficit complet en IFNgammaR2 · MSMD par déficit complet en récepteur 2 de l'interféron gamma · Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur 2 de l'interféron gamma |
| de | Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R2-Defekt | MSMD durch kompletten IFNgammaR2-Defekt · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interferon gamma-Rezeptor 2-Mangel |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del IFNgammaR2 | MSMD por deficiencia completa del IFNgammaR2 · MSMD por deficiencia completa del receptor 2 del interferón-gamma · Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del receptor 2 del interferón-gamma |
| it | Suscettibilità mendeliana a malattie micobatteriche da deficit completo di IFNgammaR2 | MSMD da deficit completo del recettore dell'interferone gamma 2 · MSMD da deficit completo di IFNgammaR2 · Suscettibilità mendeliana a malattie micobatteriche da deficit completo del recettore dell'interferone gamma 2 |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IFNgammaR2-deficiëntie | MSMD door volledige IFNgammaR2-deficiëntie · MSMD door volledige interferon-gamma receptor 2-deficiëntie · Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige interferon-gamma receptor 2-deficiëntie |
| pt | Suscetibilidade mendeliana a doenças micobacterianas pora deficiência completa de IFNgamaR2 | |
| pl | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru IFNgammaR2 | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora 2 dla interferonu gamma · MSMD z powodu całkowitego niedoboru IFNgammaR2 · MSMD z powodu całkowitego niedoboru receptora 2 dla interferonu gamma |
| cs | Genetická vnímavost k mykobakteriální infekci způsobená kompletním IFNgammaR2 deficitem | MSMD způsobená kompletním IFNgammaR2 deficitem · MSMD způsobená kompletním deficitem gama receptoru 2 interferonu · Genetická vnímavost k mykobakteriální infekci způsobená kompletním deficitem gama receptoru 2 interferonu |
| uk | Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту IFNgammaR2 | Менделіанська сприйнятливість до мікобактеріальних захворювань внаслідок повного дефіциту рецептора гамма-інтерферону 2 · MSMD внаслідок повного дефіциту IFNgammaR2 · MSMD внаслідок повного дефіциту рецептора гамма-інтерферону 2 |
| zh | IFN-γR2完全缺陷所致孟德尔遗传易感分枝杆菌病 | 干扰素γ受体2完全缺陷所致MSMD |
| tr | Tam IFNgammaR2 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık | Tam interferon gama reseptörü 2 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel duyarlılığı · Tam IFNgammaR2 eksikliğine bağlı MSMD · Tam interferon gama reseptörü 2 eksikliğine bağlı MSMD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614889 | NTBT | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0017900 | E | validated | |
| UMLS | C4303071 | E | validated |
E 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:319535Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
rare genetic diseases; rare immunological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFNGR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5440 | ENSG00000159128 | 147569 | 21q22.11 | interferon gamma receptor 2 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319547
- This record as JSON: /data/d/319547.json