Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Synonyms: MSMD due to partial JAK1 deficiency · Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency | MSMD due to partial JAK1 deficiency · Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en JAK1 | MSMD par déficit partiel en JAK1 · Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en protéine Janus kinase 1 · SSMIM par déficit partiel en JAK1 · Syndrome de susceptibilité mendélienne aux infections mycobactériennes par déficit partiel en JAK1 |
| de | Suszeptibilität für Mykobakteriosen durch partiellen JAK1-Mangel | MSMD durch partiellen JAK1-Mangel · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partieller Januskinase-1-Defizienz |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial de JAK1 | SMEM por deficiencia parcial de JAK1 · Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial de la enzima quinasa Janus 1 |
| it | Suscettibilità mendeliana alle malattie micobatteriche da deficit parziale di JAK1 | MSMD da deficit parziale di JAK1 |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële JAK1-deficiëntie | MSMD door partiële JAK1-deficiëntie · Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële deficiëntie van Janus kinase 1 |
| pt | Susceptibilidade mendeliana a doenças micobacterianas devida a deficiência parcial de JAK1 | MSMD devido a deficiência parcial JAK1 · Susceptibilidade mendeliana a doenças micobacterianas devido a deficiência parcial de Janus |
| pl | Autosomalna recesywna mendlowska podatność na zakażenia prątkami/mykobakteryjne z powodu częściowego niedoboru JAK1 | = en |
| cs | Autozomálně recesivní mendeliánská citlivost na mykobakteriální onemocnění způsobená částečným deficitem JAK1 | = en |
| uk | Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань, зумовлена частковим дефіцитом JAK1 | Аутосомно-рецесивна MSMD внаслідок часткового дефіциту JAK1 |
| zh | 由JAK1基因部分缺陷所致常染色体隐性孟德尔遗传易感性分支杆菌病 | Autosomal recessive MSMD due to partial JAK1 deficiency |
| tr | Kısmi JAK1 eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık | Kısmi JAK1 eksikliğine bağlı otozomal çekinik MSMD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | attributed | validated |
| MONDO | 0035548 | E | validated | |
| UMLS | C5680361 | 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:319539Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JAK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6190 | ENSG00000162434 | 147795 | 1p31.3 | Janus kinase 1 | 30264912[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/574957
- This record as JSON: /data/d/574957.json