ORPHA:319552
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Synonyms: MSMD due to complete IL12RB1 deficiency · MSMD due to complete interleukin 12 receptor beta 1 deficiency · Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent <i>Salmonella</i> infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | MSMD due to complete IL12RB1 deficiency · MSMD due to complete interleukin 12 receptor beta 1 deficiency · Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12RB1 | MSMD par déficit complet en IL12RB1 · MSMD par déficit complet en récepteur bêta 1 de l'interleukine 12 · Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur bêta 1 de l'interleukine 12 |
| de | Suszeptibilität für Mykobakteriosen durch kompletten IL12RB1-Defekt | MSMD durch kompletten IL12RB1-Defekt · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interleukin 12-Rezeptor beta 1-Mangel |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del IL12RB1 | MSMD por deficiencia completa del IL12RB1 · MSMD por deficiencia completa del receptor beta 1 de la interleucina 12 · Susceptibilidad mendeliana a la deficiencia del receptor beta 1 de la interleucina 12 |
| it | Suscettibilità mendeliana a malattie micobatteriche da deficit completo di IL12RB1 | MSMD da deficit completo del recettore beta 1 dell'interleuchina 12 · MSMD da deficit completo di IL12RB1 · Suscettibilità mendeliana al deficit del recettore beta 1 dell'interleuchina 12 |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IL12RB1-deficiëntie | MSMD door interleukine 12-receptor bèta 1-deficiëntie · MSMD door volledige IL12RB1-deficiëntie · Mendeliaanse gevoeligheid door interleukine 12-receptor bèta 1-deficiëntie |
| pt | Suscetibilidade mendeliana a doenças micobacterianas por deficiência completa de IL12RB1 | |
| pl | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru IL12RB1 | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora beta 1 dla interleukiny 12 · MSMD z powodu całkowitego niedoboru IL12RB1 · MSMD z powodu całkowitego niedoboru receptora beta 1 dla interleukiny 12 |
| cs | Genetická vnímavost k mykobakteriální infekci způsobená kompletním IL12RB1 deficitem | MSMD způsobená kompletním IL12RB1 deficitem · MSMD způsobená kompletním deficitem receptoru beta 1 interleukinu 12 · Genetická vnímavost k mykobakteriální infekci způsobená kompletním deficitem receptoru beta 1 interleukinu 12 |
| uk | Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту IL12RB1 | Менделевська схильність до дефіциту рецептора бета-1 інтерлейкіну 12 · MSMD внаслідок повного дефіциту IL12RB1 · MSMD внаслідок повного дефіциту рецептора бета-1 інтерлейкіну 12 |
| zh | IL12RB1基因完全缺陷所致孟德尔遗传易感分枝杆菌病 | 白介素12受体β1完全缺陷所致孟德尔遗传易感 |
| tr | Tam IL12RB1 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık | Tam IL12RB1 eksikliğine bağlı MSMD · Tam interlökin 12 reseptör beta 1 eksikliğine bağlı MSMD · İnterlökin 12 reseptör beta 1 eksikliğine Mendel duyarlılığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614891 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0013955 | E | validated | |
| UMLS | C4274793 | E | validated | |
| GARD | 10984 | 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 |
|---|---|---|---|---|---|---|---|---|
| IL12RB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5971 | ENSG00000096996 | 601604 | 19p13.11 | interleukin 12 receptor subunit beta 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 180 cases | Worldwide | Case(s) | Validated | 25453225[PMID] | |
| 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
15 annotations · validated 2021-05-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011117 | Abnormal circulating interleukin concentration | |
| HP:0020087 | BCGosis | |
| HP:0002721 | Immunodeficiency | |
| HP:0011274 | Recurrent mycobacterial infections | |
| Frequent (79-30%) | ||
| HP:0032283 | Disseminated nontuberculous mycobacterial infection | |
| HP:0002840 | Lymphadenitis | |
| HP:0005401 | Recurrent candida infections | |
| Occasional (29-5%) | ||
| HP:0002090 | Pneumonia | |
| HP:0005661 | Salmonella osteomyelitis | |
| HP:0007408 | Tegumentary leishmaniasis susceptibility | |
| Very rare (<4-1%) | ||
| HP:0032249 | Coccidioidomycosis | |
| HP:0032256 | Histoplasmosis | |
| HP:0002742 | Recurrent Klebsiella infections | |
| HP:0020105 | Severe toxoplasmosis | |
| HP:0200029 | Vasculitis in the skin | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 31951326[PMID]_28276206[PMID]_23864330[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319552
- This record as JSON: /data/d/319552.json