ORPHA:319563
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Synonyms: MSMD due to complete ISG15 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) 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 ISG15 deficiency | MSMD due to complete ISG15 deficiency |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit complet en ISG15 | MSMD par déficit complet en ISG15 |
| de | Suszeptibilität für Mykobakteriosen durch kompletten ISG15-Defekt | MSMD durch kompletten ISG15-Defekt · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem ISG15-Mangel |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del ISG15 | MSMD por deficiencia completa del ISG15 |
| it | Suscettibilità mendeliana a malattie micobatteriche da deficit completo di ISG15 | MSMD da deficit completo di ISG15 |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige ISG15-deficiëntie | MSMD door volledige ISG15-deficiëntie |
| pt | Suscetibilidade mendeliana a doenças micobacterianas por deficiência completa de ISG15 | |
| pl | Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru ISG15 | MSMD z powodu całkowitego niedoboru ISG15 |
| cs | Genetická vnímavost k mykobakteriální infekci způsobená kompletním ISG15 deficitem | MSMD způsobená kompletním ISG15 deficitem |
| uk | Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту ISG15 | MSMD внаслідок повної недостатності ISG15 |
| zh | ISG15基因完全缺陷所致孟德尔遗传易感分枝杆菌病 | ISG15基因完全缺陷所致MSMD |
| tr | Tam ISG15 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık | Tam ISG15 eksikliğine bağlı MSMD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616126 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | attributed | validated |
| MONDO | 0014502 | E | validated | |
| UMLS | C4509853 | 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 (3):
- ORPHA:319535Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
rare genetic diseases; rare immunological diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ISG15 | Disease-causing germline mutation(s) in | Assessed | HGNC:4053 | ENSG00000187608 | 147571 | 1p36.33 | ISG15 ubiquitin like modifier | 22859821[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 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/319563
- This record as JSON: /data/d/319563.json