ORPHA:725898
Bone marrow failure-diabetes mellitus syndrome
Synonyms: BMFDMS · BMF disorder due to DUT deficiency · Bone marrow failure disorder due to DUT deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bone marrow failure-diabetes mellitus syndrome | BMFDMS · BMF disorder due to DUT deficiency · Bone marrow failure disorder due to DUT deficiency |
| fr | Syndrome d'aplasie médullaire-diabète sucré | Aplasie médullaire par déficit en DUT |
| de | Knochenmarkversagen-Diabetes-mellitus-Syndrom | BMFDMS · Knochenmarkversagen-Syndrom durch DUT-Defizienz · BMFS durch DUT-Mangel |
| es | Síndrome de fallo medular-diabetes mellitus | Trastorno de fallo medular por deficiencia de DUT · Trastorno BMF por deficiencia de DUT |
| it | Sindrome insufficienza del midollo osseo-diabete mellito | BMF da deficit di DUT · Insufficienza del midollo osseo da deficit di DUT · BMFDMS |
| nl | Beenmergfalen - diabetes mellitus-syndroom | BMFDMS · BMF door DUT-deficiëntie · Beenmergfalen door DUT-deficiëntie |
| pt | Bone marrow failure-diabetes mellitus | |
| pl | Bone marrow failure-diabetes mellitus syndrome | = en |
| cs | Bone marrow failure-diabetes mellitus syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620044 | 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 (4):
- ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:101952Rare diabetes mellitus
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DUT | Disease-causing germline mutation(s) in | Assessed | HGNC:3078 | ENSG00000128951 | 601266 | 15q21.1 | deoxyuridine triphosphatase | 28073829[PMID]_35611808[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 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.
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/725898
- This record as JSON: /data/d/725898.json