ORPHA:619367
SAMD9L-associated autoinflammatory syndrome
Synonyms: SAMD9L-SAAD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare autoinflammatory syndrome characterized by nodular panniculitis, lipoatrophy, severe early-onset interstitial lung disease, and basal ganglia calcifications. Most patients have progressive isolated B-cell and natural killer cell cytopenias. Respiratory failure was also reported.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SAMD9L-associated autoinflammatory syndrome | SAMD9L-SAAD |
| fr | Syndrome auto-inflammatoire associé à SAMD9L | |
| de | SAMD9L-assoziiertes autoinflammatorisches Syndrom | = en |
| es | Síndrome autoinflamatorio asociado a SAMD9L | = en |
| it | Sindrome autoinfiammatoria correlata a SAMD9L | = en |
| nl | SAMD9L-geassocieerd auto-inflammatoir syndroom | = en |
| pt | Síndrome autoinflamatória SAMD9L-associada | = en |
| pl | Zespół autozapalny związany z SAMD9L | = en |
| cs | Autoinflamatorní syndrom spojený se SAMD9L | = en |
| uk | SAMD9L-асоційований аутозапальний синдром | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0850066 | E | validated | |
| UMLS | C5680414 | E | 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 (6):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:264699Secondary interstitial lung disease specific to childhood associated with a systemic disease
rare respiratory diseases; rare transplant-related disorders - 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SAMD9L | Disease-causing germline mutation(s) in | Assessed | HGNC:1349 | ENSG00000177409 | 611170 | 7q21.2 | sterile alpha motif domain containing 9 like | 31874111[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 | 31874111[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31874111[PMID]_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.
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/619367
- This record as JSON: /data/d/619367.json