ORPHA:319539
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Synonyms: Autosomal recessive MSMD due to a partial deficiency
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the <i>IFNGR1</i> and <i>IFNGR2</i> genes which lead to a residual response of IFN-gamma.
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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 a partial deficiency | Autosomal recessive MSMD due to a partial deficiency |
| fr | Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel | |
| de | Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen Defekt | MSMD durch partiellen Defekt, autosomal-rezessiv · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem Mangel, autosomal-rezessiv |
| es | Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por deficiencia parcial | MSMD autosómica recesiva por deficiencia parcial |
| it | Suscettibilità mendeliana autosomica recessiva a malattie micobatteriche da deficit parziale | MSMD autosomica recessiva da deficit parziale |
| nl | Autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekten door een partiële deficiëntie | Autosomaal recessieve MSMD door een partiële deficiëntie |
| pt | Suscetibilidade mendeliana autossómica recessiva a doenças micobacterianas por deficiência parcial | |
| pl | Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru | Autosomalna recesywna MSMD z powodu częściowego niedoboru |
| cs | Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem | Autozomálně recesivní MSMD způsobená částečným deficitem |
| uk | Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту | Аутосомно-рецесивна MSMD внаслідок часткового дефіциту |
| zh | 部分缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病 | 部分缺陷所致常染色体隐性遗传MSMD |
| tr | Kısmi bir eksikliğe bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık | Kısmi eksikliğe bağlı otozomal çekinik MSMD |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17898 | E | validated | |
| UMLS | C5679891 | 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:748Mendelian susceptibility to mycobacterial diseases
rare genetic diseases; rare immunological diseases
Children (4):
- ORPHA:319569Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- ORPHA:319574Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
- ORPHA:574957Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
- ORPHA:331226Susceptibility to infection due to TYK2 deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
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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.
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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/319539
- This record as JSON: /data/d/319539.json