ORPHA:319558
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Synonyms: MSMD due to complete IL12B deficiency · MSMD due to complete interleukin 12B deficiency · Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent <i>Salmonella</i> infections.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | MSMD due to complete IL12B deficiency · MSMD due to complete interleukin 12B deficiency · Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12B | MSMD par déficit complet en IL12B · MSMD par déficit complet en interleukine 12B · Prédisposition mendélienne aux infections mycobactériennes par déficit complet en interleukine 12B |
| de | Suszeptibilität für Mykobakteriosen durch kompletten IL12B-Defekt | MSMD durch kompletten IL12B-Defekt · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interleukin 12B-Mangel |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del IL12B | MSMD por deficiencia completa de la interleucina 12B · MSMD por deficiencia completa del IL12B · Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa de la interleucina 12B |
| it | Suscettibilità mendeliana a malattie micobatteriche da deficit completo di IL12B | MSMD da deficit completo di IL12B · MSMD da deficit completo di interleuchina 12B · Suscettibilità mendeliana a malattie micobatteriche da deficit completo dell'interleuchina 12B |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IL12B-deficiëntie | MSMD door volledige IL12B-deficiëntie · MSMD door volledige interleukine 12B-deficiëntie · Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige interleukine 12B-deficiëntie |
| pt | Suscetibilidade mendeliana a doenças micobacterianas por deficiência completa de IL12B | |
| pl | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru IL12B | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru interleukiny 12B · MSMD z powodu całkowitego niedoboru IL12B · MSMD z powodu całkowitego niedoboru interleukiny 12B |
| cs | Genetická vnímavost k mykobakteriální infekci způsobená kompletním IL12B1 deficitem | MSMD způsobená kompletním IL12B1 deficitem · MSMD způsobená kompletním deficitem interleukinu 12B · Genetická vnímavost k mykobakteriální infekci způsobená kompletním deficitem interleukinu 12B |
| uk | Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту IL12B | Менделіанська сприйнятливість до мікобактеріальних захворювань внаслідок повного дефіциту інтерлейкіну 12В · MSMD внаслідок повного дефіциту IL12B · MSMD внаслідок повного дефіциту інтерлейкіну 12В |
| zh | IL12B基因完全缺陷所致孟德尔遗传易感分枝杆菌病 | 白介素12B完全缺陷所致MSMD |
| tr | Tam IL12B eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık | Tam interlökin 12B eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel duyarlılığı · Tam IL12B eksikliğine bağlı MSMD · Tam interlökin 12B eksikliğine bağlı MSMD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614890 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0013954 | E | validated | |
| UMLS | C4303665 | 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 |
|---|---|---|---|---|---|---|---|---|
| IL12B | Disease-causing germline mutation(s) in | Assessed | HGNC:5970 | ENSG00000113302 | 161561 | 5q33.3 | interleukin 12B |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/319558
- This record as JSON: /data/d/319558.json