ORPHA:847
X-linked alpha-thalassemia-intellectual disability syndrome
Synonyms: ATR-X syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked alpha-thalassemia-intellectual disability syndrome | ATR-X syndrome |
| fr | Alpha-thalassémie-déficience intellectuelle liée à l'X | Syndrome ATR-X · Thalassémie alpha-déficience intellectuelle liée à l'X |
| de | Alpha-Thalassämie-X-chromosomale Intelligenzminderung-Syndrom | ATR-X-Syndrom |
| es | Síndrome de alfa talasemia-discapacidad intelectual ligado al cromosoma X | Síndrome ATR-X |
| it | Sindrome alfa talassemia-disabilità cognitiva legata all'X | Sindrome ATR-X |
| nl | X-gebonden alfa-thalassemie - intellectuele achterstand-syndroom | ATR-X-syndroom |
| pt | Síndrome de alfa-talassemia-perturbação do desenvolvimento intelectual ligada ao X | Síndrome ATR-X |
| pl | Zespół alfa-talasemii i niepełnosprawności intelektualnej sprzężony z chromosomem X | Zespół ATR-X |
| cs | Syndrom X-vázané alfa-thalasémie s mentální retardací | ATR-X syndrom |
| uk | Х-зчеплений синдром альфа-таласемії та інтелектуальної недостатності | Синдром ATR-X |
| zh | X连锁α地中海贫血-智力障碍综合征 | ATR-X 综合征 |
| tr | Alfa-talasemi-X'e bağlı zihinsel yetersizlik sendromu | ATR-X sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301040 | E | validated | |
| OMIM | 309580 | BTNT | validated | |
| ICD-10 | D56.0 | NTBT | attributed | validated |
| ICD-11 | 3A50.1 | NTBT | index | validated |
| MONDO | 0010519 | E | validated | |
| MeSH | C538258 | E | validated | |
| UMLS | C1845055 | E | validated | |
| GARD | 5864 | E | validated | |
| MedDRA | 10082291 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:232288Syndrome with alpha-thalassemia as a major feature
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:73220X-linked intellectual disability-hypotonic face syndrome moved to · inactive
- ORPHA:93970Holmes-Gang syndrome moved to · inactive
- ORPHA:93971Chudley-Lowry-Hoar syndrome moved to · inactive
- ORPHA:93973Carpenter-Waziri syndrome moved to · inactive
- ORPHA:93974Smith-Fineman-Myers syndrome moved to · inactive
- ORPHA:263355OBSOLETE: ATR-X-related syndrome referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATRX | Disease-causing germline mutation(s) in | Assessed | HGNC:886 | ENSG00000085224 | 300032 | Xq21.1 | ATRX chromatin remodeler | 20301622[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 20301622[PMID]_16722615[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 20301622[PMID]_16722615[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.
6
HPO phenotypes
66 annotations · validated 2025-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011328 | Abnormality of fontanelles | |
| HP:0000271 | Abnormality of the face | |
| HP:0010461 | Abnormality of the male genitalia | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0002381 | Aphasia | |
| HP:0000708 | Atypical behavior | |
| HP:0000028 | Cryptorchidism | |
| HP:0012368 | Flat face | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0000252 | Microcephaly | |
| HP:0012736 | Profound global developmental delay | |
| Frequent (79-30%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0000463 | Anteverted nares | |
| HP:0000717 | Autism | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002307 | Drooling | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0002808 | Kyphosis | |
| HP:0000158 | Macroglossia | |
| HP:0011800 | Midface retrusion | |
| HP:0001270 | Motor delay | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000506 | Telecanthus | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0010806 | U-Shaped upper lip vermilion | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001903 | Anemia | |
| HP:0000618 | Blindness | |
| HP:0001156 | Brachydactyly | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002019 | Constipation | |
| HP:0001522 | Death in infancy | |
| HP:0000716 | Depression | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001371 | Flexion contracture | |
| HP:0001510 | Growth delay | |
| HP:0000126 | Hydronephrosis | |
| HP:0001252 | Hypotonia | |
| HP:0002383 | Infectious encephalitis | |
| HP:0001387 | Joint stiffness | |
| HP:0000545 | Myopia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000648 | Optic atrophy | |
| HP:0000939 | Osteoporosis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001258 | Spastic paraplegia | |
| HP:0002580 | Volvulus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 40484370[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/847
- This record as JSON: /data/d/847.json