DDX41-related hematologic malignancy predisposition syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adult, Elderly
- Status
- active
A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DDX41-related hematologic malignancy predisposition syndrome | |
| fr | Syndrome de prédisposition aux cancers hématologiques associé à DDX41 | |
| de | Tumorprädispositionssyndrom, DDX41-assoziiertes | DDX41-assoziiertes familiäres myelodysplastisches Syndrom und akute myeloische Leukämie |
| es | Síndrome de predisposición al cáncer hematológico asociado a DDX41 | |
| it | Sindrome predisposizione ai tumori ematologici maligni correlata a DDX41 | |
| nl | DDX41-gerelateerd hematologische maligniteit-predispositiesyndroom | |
| pt | Síndrome de predisposição para malignidade hematológica DDX41-relacionada | |
| pl | Zespół predyspozycji do nowotworów hematologicznych związany z DDX41 | |
| cs | Syndrom DDX41-vázané predispozice k hematologickým malignitám | |
| uk | Синдром схильності до гематологічних злоякісних новоутворень, повязаних з DDX41 | |
| zh | DDX41相关的血液恶性肿瘤易感综合征 | |
| tr | DDX41 -ilişkili hematolojik habis yatkınlık sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616871 | E | validated | |
| ICD-10 | C96.7 | NTBT | attributed | not yet validated |
| MONDO | 0014809 | E | validated | |
| UMLS | C5567478 | 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 (1):
- ORPHA:619340Inherited hematologic cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDX41 | Major susceptibility factor in | Assessed | HGNC:18674 | ENSG00000183258 | 608170 | 5q35.3 | DEAD-box helicase 41 | 26712909[PMID]_25920683[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 26712909[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26712909[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/488647
- This record as JSON: /data/d/488647.json