ORPHA:98791
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Synonyms: ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type · ATR-16 syndrome · Alpha thalassemia-intellectual disability syndrome, deletion type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type · ATR-16 syndrome · Alpha thalassemia-intellectual disability syndrome, deletion type |
| fr | Syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 | Syndrome ATR associé au chromosome 16 · Syndrome ATR type délétion · Syndrome ATR-16 · Syndrome d'alpha-thalassémie-déficience intellectuelle type délétion |
| de | Alpha-Thalassämie-Intelligenzminderung-Syndrom, gekoppelt an Chr. 16 | ATR-16-Syndrom · ATR-Syndrom gekoppelt an Chr. 16 · ATR-Syndrom vom Deletions-Typ · Alpha-Thalassämie-Intelligenzminderung-Syndrom vom Deletions-Typ |
| es | Síndrome de alfa talasemia-discapacidad intelectual ligado al cromosoma 16 | Síndrome ATR ligado al cromosoma 16 · Síndrome ATR tipo deleción · Síndrome ATR-16 · Síndrome de alfa talasemia-discapacidad intelectual tipo deleción |
| it | Sindrome alfa talassemia-disabilità intellettiva associata al cromosoma 16 | Sindrome ATR legata al cromosoma 16 · Sindrome ATR, tipo delezione · Sindrome ATR-16 · Sindrome alfa talassemia-deficit cognitivo, tipo delezione · Sindrome alfa talassemia-disabilità cognitiva, tipo delezione |
| nl | Alfa-thalassemie - intellectuele achterstand-syndroom gekoppeld aan chromosoom 16 | ATR-16-syndroom · ATR-syndroom gekoppeld aan chromosoom 16 · ATR-syndroom, deletie-type · Alfa-thalassemie - intellectuele achterstand-syndroom, deletie-type |
| pt | Síndrome de alfa-talassemia-perturbação do desenvolvimento intelectual ligada ao cromossoma 16 | Síndrome ATR ligado ao cromossoma 16 · Síndrome ATR, tipo delecional · Síndrome ATR-16 · Síndrome de alfa-talassemia-perturbação do desenvolvimento intelectual, tipo delecional |
| pl | Zespół alfa-talasemii i niepełnosprawności intelektualnej sprzężony z chromosomem 16 | Zespół alfa-talasemii i niepełnosprawności intelektualnej, typ delecyjny · Zespół alfa-talasemii i upośledzenia umysłowego · Zespół ATR sprzężony z chromosomem 16 · Zespół ATR, typ delecyjny · Zespół ATR-16 |
| cs | Syndrom zahrnující alfa-talasémii a mentální retardaci, vázaný na chromozom 17 | ART syndrom vázaný na chromozom 16 · ART-16 syndrom · Syndrom zahrnující alfa-talasémii a mentální retardaci · ART syndrom, deleční typ · Syndrom zahrnující alfa-talasémii a mentální retardaci, deleční typ |
| uk | Синдром альфа-таласемії-інтелектуальної недостатності, повязаний з хромосомою 16 | Синдром альфа-таласемії - інтелектуальної недостатності, делеційний тип · Синдром ATR, зчеплений з хромосомою 16 · Синдром ATR, тип делеції · Синдром ATR-16 |
| zh | 16号染色体连锁α-地中海贫血-智力障碍综合征 | 缺失型α-地中海贫血-智力障碍综合征 |
| tr | 16. Kromozom bağlantılı alfa-talasemi-zihinsel yetersizlik sendromu | ATR-16 sendromu · ATR sendromu, delesyon tipi · 16. kromozoma bağlı ATR sendromu · Alfa talasemi-zihinsel yetersizlik sendromu, delesyon tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 141750 | E | validated | |
| ICD-10 | D56.0 | NTBT | attributed | validated |
| ICD-11 | 3A50.1 | NTBT | index | validated |
| MONDO | 7716 | E | validated | |
| MeSH | C563050 | E | validated | |
| UMLS | C0795917 | 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 (3):
- ORPHA:261956Partial deletion of the short arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:232288Syndrome with alpha-thalassemia as a major feature
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBA1 | Role in the phenotype of | Assessed | HGNC:4823 | ENSG00000206172 | 141800 | 16p13.3 | hemoglobin subunit alpha 1 | |
| HBA2 | Role in the phenotype of | Assessed | HGNC:4824 | ENSG00000188536 | 141850 | 16p13.3 | hemoglobin subunit alpha 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
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HPO phenotypes
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0012378 | Fatigue | |
| HP:0011903 | HbH hemoglobin | |
| HP:0001249 | Intellectual disability | |
| HP:0001935 | Microcytic anemia | |
| Frequent (79-30%) | ||
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0000337 | Broad forehead | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000768 | Pectus carinatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000278 | Retrognathia | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0001371 | Flexion contracture | |
| HP:0002007 | Frontal bossing | |
| HP:0000047 | Hypospadias | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98791
- This record as JSON: /data/d/98791.json