ORPHA:314399
Autosomal dominant aplasia and myelodysplasia
Synonyms: Autosomal dominant aplastic anemia and myelodysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant aplasia and myelodysplasia | Autosomal dominant aplastic anemia and myelodysplasia |
| fr | Aplasie et myélodysplasie autosomiques dominantes | Anémie aplasique et myélodysplasie autosomiques dominantes |
| de | Autosomal-dominante Aplasie und Myelodysplasie | |
| es | Aplasia y mielodisplasia autosómica dominante | Anemia aplásica y mielodisplasia autosómicas dominantes |
| it | Aplasia e mielodisplasia autosomiche dominanti | Anemia aplastica e mielodisplasia autosomiche dominanti |
| nl | Autosomaal dominante aplasie en myelodysplasie | Autosomaal dominante aplastische anemie en myelodysplasie |
| pt | Aplasia autossómica dominante e mielodisplasia | Anemia aplásica e mielodisplasia autossómica dominante |
| pl | Autosomalna dominująca aplazja i mielodysplazja | Autosomalna dominująca niedokrwistość aplastyczna i mielodysplazja |
| cs | Autozomálně dominantní aplázie kostní dřeně a myelodysplázie | Autozomálně dominantní aplázie a myelodysplázie |
| uk | Аутосомно-домінантна аплазія та мієлодисплазія | Аутосомно-домінантна апластична анемія та мієлодисплазія |
| zh | 常染色体显性遗传骨髓发育不全和增生异常 | 常染色体显性遗传再生障碍性贫血和骨髓增生异常 |
| tr | Otozomal dominant aplazi ve miyelodisplazi | Otozomal dominant aplastik anemi ve miyelodisplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614675 | E | validated | |
| ICD-10 | D61.0 | NTBT | attributed | validated |
| ICD-11 | 3A70.0 | NTBT | attributed | validated |
| MONDO | 0013851 | E | validated | |
| UMLS | C4755259 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SRP72 | Disease-causing germline mutation(s) in | Assessed | HGNC:11303 | ENSG00000174780 | 602122 | 4q12 | signal recognition particle 72 | 22541560[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 | 22541560[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22541560[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.
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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/314399
- This record as JSON: /data/d/314399.json