Aplastic anemia-intellectual disability-dwarfism syndrome
Synonyms: AMeD syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare constitutional aplastic anemia characterized by aplastic anemia, intellectual disability, short stature and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioral problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukemia.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aplastic anemia-intellectual disability-dwarfism syndrome | AMeD syndrome |
| fr | Syndrome d'aplasie médullaire-déficience intellectuelle-nanisme | Syndrome AMeD |
| de | Aplastische Anämie-Intelligenzminderung-Kleinwuchs-Syndrom | AMeD-Syndrom |
| es | Síndrome de anemia aplásica-discapacidad intelectual-talla baja significativa | Síndrome AMeD · Síndrome de anemia aplásica-discapacidad intelectual-enanismo |
| it | Sindrome da anemia aplastica-disabilità intellettiva-nanismo | Sindrome AMeD |
| nl | Aplastische anemie - intellectuele achterstand - dwerggroei-syndroom | AMeD-syndroom |
| pt | Síndrome de anemia aplásica-perturbação do desenvolvimento intelectual-nanismo | Síndrome AMeD |
| pl | Zespół anemii aplastycznej-niepełnosprawności intelektualnej-karłowatości | = en |
| cs | Syndrom zahrnující aplastickou anémii, mentální retardaci a malý vzrůst | = en |
| uk | Синдром апластичної анемії-інтелектуальної недостатності-карликовості | Синдром AMeD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619151 | E | validated | |
| ICD-10 | D61.0 | NTBT | attributed | validated |
| ICD-11 | 3A70.0 | NTBT | attributed | validated |
| MONDO | 0030894 | E | validated | |
| UMLS | C5436906 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
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 | 10 cases | Worldwide | Case(s) | Validated | 33355142[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33355142[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/611216
- This record as JSON: /data/d/611216.json