Mendelian susceptibility to mycobacterial diseases
Synonyms: Idiopathic infection caused by BCG or atypical mycobacteria · MSMD · Mendelian susceptibility to atypical mycobacteria · Mendelian susceptibility to mycobacterial infections
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- All ages
- Status
- active
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mendelian susceptibility to mycobacterial diseases | Idiopathic infection caused by BCG or atypical mycobacteria · MSMD · Mendelian susceptibility to atypical mycobacteria · Mendelian susceptibility to mycobacterial infections |
| fr | Prédisposition mendélienne aux infections mycobactériennes | Infection idiopathique par le BCG ou les mycobactéries atypiques · MSMD |
| de | Suszeptibilität für Mykobakteriosen, familiäre Form | Idiopathische Infektionen durch BCG oder atypische Mykobakterien · MSMD · Mendelsche Anfälligkeit für Erkrankungen durch Mykobakterien |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas | Infección idiopática por BCG o micobacterias atípicas · MSMD · Susceptibilidad mendeliana a infecciones micobacterianas · Susceptibilidad mendeliana a micobacterias atípicas |
| it | Suscettibilità mendeliana alle malattie micobatteriche | Infezione idiopatia causata da BCG o micobatteri atipici · MSMD · Suscettibilità mendeliana ai micobatteri atipici · Suscettibilità mendeliana alle infezioni micobatteriche |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten | Idiopathische infectie veroorzaakt door BCG of atypische mycobacteriën · MSMD · Mendeliaanse gevoeligheid voor atypische mycobacteriën · Mendeliaanse gevoeligheid voor mycobacteriële infecties |
| pt | Suscetibilidade mendeliana a doenças micobacterianas | Infeção idiopática provocada por BCG ou micobactérias atípicas · MSMD · Suscetibilidade mendeliana a infeções micobacterianas · Suscetibilidade mendeliana a micobactérias atípicas |
| pl | Wrażliwość typu Mendla na zakażenie prątkami | Idiopatyczne zakażenie wywołane BCG lub atypowymi prątkami · Mendlowska podatność na atypowe prątki · Mendlowska podatność na zakażenie prątkami · MSMD |
| cs | Mendelovská náchylnost k mykobakteriálnímu onemocnění | MSMD · Mendelovská náchylnost k atypickým mykobakteriím · Mendelovská náchylnost k mykobakteriální infekci · Idiopatická infekce způsobená BCG nebo atypickými mykobakteriemi |
| uk | Менделівська чутливість до мікобактеріальних захворювань | Ідіопатична інфекція, спричинена БЦЖ або атиповими мікобактеріями · Менделівська сприйнятливість до атипових мікобактерій · Сприйнятливість до мікобактеріальних інфекцій, успадкована за менделівським типом · MSMD |
| zh | 孟德尔遗传易感分枝杆菌病 | BCG或非典型分枝杆菌所致特发性感染 |
| tr | Mikobakteriyel hastalıklara Mendel tipi yatkınlık | MSMD · Atipik mikobakterilere Mendel duyarlılığı · Mikobakteriyel enfeksiyonlara Mendel yatkınlığı · BCG veya atipik mikobakterilerin neden olduğu idiyopatik enfeksiyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019146 | E | validated | |
| MONDO | 19146 | E | validated | |
| UMLS | C3266863 | E | validated | |
| GARD | 12977 | 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:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases
Children (4):
- ORPHA:319543Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
- ORPHA:319535Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
- ORPHA:319539Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
- ORPHA:319605X-linked mendelian susceptibility to mycobacterial diseases
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/748
- This record as JSON: /data/d/748.json