ORPHA:319595
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Synonyms: MSMD due to partial STAT1 deficiency · MSMD due to partial signal transducer and activator of transcription 1 deficiency · Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | MSMD due to partial STAT1 deficiency · MSMD due to partial signal transducer and activator of transcription 1 deficiency · Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en STAT1 | MSMD par déficit partiel en STAT1 |
| de | Suszeptibilität für Mykobakteriosen durch partielle STAT1-Defizienz | Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem STAT1-Mangel · MSMD durch partiellen STAT1-Defekt |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial del STAT1 | MSMD por deficiencia parcial del STAT1 · MSMD por deficiencia parcial del transductor de señal y activador de transcripción 1 |
| it | Suscettibilità mendeliana a malattie micobatteriche da deficit parziale di STAT1 | Suscettibilità mendeliana a micobatteriosi da deficit parziale del trasduttore e attivatore del segnale di trascrizione 1 |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële STAT1-deficiëntie | MDMD door partiële deficiëntie van signaaltransductor en -activator van transcriptie 1 · MSMD door partiële STAT1-deficiëntie · Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële deficiëntie van signaaltransductor en -activator van transcriptie 1 |
| pt | Suscetibilidade mendeliana a doenças micobacterianas por deficiência parcial de STAT1 | |
| pl | Mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru STAT1 | Mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru przekaźnika sygnału i aktywatora transkrypcji 1 · MSMD z powodu częściowego niedoboru przekaźnika sygnału i aktywatora transkrypcji 1 · MSMD z powodu częściowego niedoboru STAT1 |
| cs | Genetická vnímavost k mykobakteriální infekci způsobená částečným STAT1 deficitem | MSMD způsobená částečným STAT1 deficitem · MSMD způsobená částečným deficitem signálního transduktoru a aktivátoru transkripce 1 · Genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem signálního transduktoru a aktivátoru transkripce 1 |
| uk | Менделевська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту STAT1 | Менделевська схильність до мікобактеріальних захворювань внаслідок часткової недостатності трансдуктора сигналу та активатора транскрипції 1 · MSMD внаслідок часткової недостатності трансдуктора сигналу та активатора транскрипції 1 · MSMD внаслідок часткового дефіциту STAT1 |
| zh | STAT1基因部分缺陷所致孟德尔遗传易感分枝杆菌病 | STAT1基因部分缺陷所致MSMD |
| tr | Kısmi STAT1 eksikliğine bağlı mikobakteriyel hastalıklara Mendel tipi yatkınlık | Kısmi sinyal dönüştürücü ve transkripsiyon 1 eksikliğinin aktivatörü nedeniyle MSMD · Kısmi sinyal dönüştürücü ve transkripsiyon 1 aktivatörü eksikliğine bağlı mikobakteriyel hastalıklara Mendelian duyarlılığı · Kısmi STAT1 eksikliğine bağlı MSMD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614892 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0013956 | E | validated | |
| UMLS | C4509855 | 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:319543Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial 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 |
|---|---|---|---|---|---|---|---|---|
| STAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11362 | ENSG00000115415 | 600555 | 2q32.2 | signal transducer and activator of transcription 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 25453225[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25453225[PMID] |
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/319595
- This record as JSON: /data/d/319595.json