Familial monosomy 7 syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial monosomy 7 syndrome | |
| fr | Syndrome de monosomie 7 familiale | |
| de | Monosomie-7-Syndrom, familiäres | Myelodysplasie- und Leukämiesyndrom mit Monosomie 7 |
| es | Síndrome familiar de monosomía 7 | |
| it | Monosomia 7 familiare | |
| nl | Familiale monosomie 7 syndroom | |
| pt | Síndrome de monossomia do mosaico 7 | |
| pl | Zespół rodzinnej mosomii 7 | |
| cs | Familiární monozomie 7 | |
| uk | Синдром сімейної моносомії 7 | |
| zh | 家族性7号染色单体综合征 | |
| tr | Ailesel monozomi 7 sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252270 | BTNT | validated | |
| OMIM | 619041 | BTNT | validated | |
| ICD-10 | D46.7 | NTBT | attributed | validated |
| ICD-11 | 2A3Y | NTBT | attributed | validated |
| MONDO | 0044645 | E | validated | |
| UMLS | C5681220 | E | validated | |
| GARD | 3765 | 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:52688Myelodysplastic syndrome
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 families | Worldwide | Family(ies) | Validated | 20614583[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20614583[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/495930
- This record as JSON: /data/d/495930.json