Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | |
| fr | Syndrome auto-inflammatoire avec infection bactérienne pyogénique et amylopectinose | |
| de | Autoinflammatorisches Syndrom mit pyogener Bakterieninfektion und Amylopektinose | HOIL1-Mangel |
| es | Síndrome autoinflamatorio con infección bacteriana piogénica y amilopectinosis | Deficiencia de HOIL1 |
| it | Sindrome autoinfiammatoria con infezione da batteri piogeni e amilopectinosi | Deficit di HOIL1 |
| nl | Auto-inflammatoir syndroom met pyogene bacteriële infectie en amylopectinose | |
| pt | Síndrome autoinflamatório com infeções bacterianas piogénicas e amilopectinose | |
| pl | Zespół autozapalenie z ropnym zakażeniem bakteryjnym i amylopektynozą | |
| cs | Autoinflamatorní syndrom s pyogenní bakteriální infekcí a amylopektinózou | HOIL1 deficit |
| uk | Аутозапальний синдром з піогенною бактеріальною інфекцією та амілопектинозом | |
| zh | 自身炎症综合征伴化脓性细菌感染和支链淀粉病 | |
| tr | Piyojenik bakteriyel enfeksiyon ve amilopektinoz ile seyreden otoinflamatuar sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615895 | NTBT | validated | |
| OMIM | 620632 | BTNT | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | attributed | validated |
| MONDO | 0017992 | E | validated | |
| UMLS | C5394674 | 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 (3):
- ORPHA:324933Mixed autoinflammatory and autoimmune syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBCK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15864 | ENSG00000125826 | 610924 | 20p13 | RANBP2-type and C3HC4-type zinc finger containing 1 | 23104095[PMID] |
| RNF31 | Disease-causing germline mutation(s) in | Assessed | HGNC:16031 | ENSG00000092098 | 612487 | 14q12 | ring finger protein 31 | 26008899[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 30936877[PMID]_23104095[PMID]_26008899[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30936877[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329173
- This record as JSON: /data/d/329173.json