ORPHA:726479
Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency
Synonyms: Genetic susceptibility to Tropheryma whipplei infections due to IRF4 haploinsufficiency · Genetic predisposition to Whipple disease due to Interferon regulatory factor 4 haploinsufficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency | Genetic susceptibility to Tropheryma whipplei infections due to IRF4 haploinsufficiency · Genetic predisposition to Whipple disease due to Interferon regulatory factor 4 haploinsufficiency |
| fr | Prédisposition génétique à la maladie de Whipple par haploinsuffisance en IRF4 | Susceptibilité génétique à une infection par Tropheryma whipplei par haploinsuffisance en IRF4 · Prédisposition génétique à la maladie de Whipple par haploinsuffisance en protéine Interferon regulatory factor 4 |
| de | Genetische Prädisposition für Morbus Whipple durch IRF4-Haploinsuffizienz | Suszeptibilität für Tropheryma whipplei-Infektionen durch IRF4-Haploinsuffizienz |
| es | Predisposición genética a la enfermedad de Whipple por haploinsuficiencia del gen IRF4 | Predisposición genética a la enfermedad de Whipple por haploinsuficiencia del factor regulador del interferón 4 · Susceptibilidad genética a las infecciones por Tropheryma whipplei por haploinsuficiencia del gen IRF4 |
| it | Predisposizione genetica alla malattia di Whipple da aploinsufficienza di IRF4 | Suscettibilità genetica alle infezioni di Tropheryma whipplei da aploinsufficienza di IRF4 · Suscettibilità genetica alla malattia di Whipple da aploinsufficienza del fattore 4 di regolazione dell'interferone |
| nl | Genetische predispositie voor ziekte van Whipple door IRF4-haploinsufficiëntie | Genetische predispositie voor infectie door Tropheryma whipplei door IRF4-haploinsufficiëntie · Genetische predispositie voor ziekte van Whipple door haploinsufficiëntie van 'interferon regulatory factor 4' · Genetische predispositie voor ziekte van Whipple door haploinsufficiëntie van interferonregulerende factor 4 |
| pt | Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency | |
| pl | Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency | = en |
| cs | Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621097 | NTBT | 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:183710Genetic susceptibility to infections due to particular pathogens
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 |
|---|---|---|---|---|---|---|---|---|
| IRF4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6119 | ENSG00000137265 | 601900 | 6p25.3 | interferon regulatory factor 4 | 29537367[PMID]_36917008[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
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/726479
- This record as JSON: /data/d/726479.json