ORPHA:699615
Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency
Synonyms: Severe MSMD due to complete IRF1 deficiency · Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency | Severe MSMD due to complete IRF1 deficiency · Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency |
| fr | Sévère prédisposition mendélienne aux infections mycobactériennes par déficit complet en IRF1 | SSMIM sévère par déficit complet en IRF1 · Syndrome de susceptibilité mendélienne aux infections mycobactériennes sévère par déficit complet en IRF1 · Sévère prédisposition mendélienne aux infections mycobactériennes par déficit complet en protéine interferon regulatory factor 1 |
| de | Suszeptibilität für Mykobakteriosen durch kompletten IRF1-Mangel | Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Mangel an Interferon-regulierendem Faktor 1 · Schwere MSMD durch vollständige IRF1-Defizienz |
| es | Susceptibilidad mendeliana grave a enfermedades micobacterianas por deficiencia completa de IRF1 | SMEM grave por deficiencia completa de IRF1 · Susceptibilidad mendeliana grave a enfermedades micobacterianas por deficiencia completa del factor regulador del interferón 1 |
| it | Grave predisposizione mendeliana alle malattie micobatteriche da deficit completo di IRF1 | Grave predisposizione mendeliana alle malattie micobatteriche da deficit completo del fattore 1 di regolazione dell'interferone · MSMD grave da deficit completo di IRF1 |
| nl | Ernstige Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IRF1-deficiëntie | Ernstige MSMD door volledige IRF1-deficiëntie · Ernstige Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige deficiëntie van interferon regulatorische factor 1 |
| pt | Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency | |
| pl | Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency | = en |
| cs | Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620668 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | not yet validated |
| ICD-11 | 4A00.2 | NTBT | attributed | not yet validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6116 | ENSG00000125347 | 147575 | 5q31.1 | interferon regulatory factor 1 | 36736301[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/699615
- This record as JSON: /data/d/699615.json