ORPHA:457193
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
Synonyms: Arboleda-Tham syndrome · KAT6A syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome | Arboleda-Tham syndrome · KAT6A syndrome |
| fr | Syndrome de déficience intellectuelle-anomalies craniofaciales-hypotonie-cardiopathie lié à KAT6 | Syndrome de Arboleda-Tham · Syndrome de KAT6A |
| de | Intelligenzminderung-kraniofaziale Anomalien-Herzfehler-Syndrom, KAT6-assoziiert | Arboleda-Tham-Syndrom · KAT6A-Syndrom |
| es | Síndrome de discapacidad intelectual-anomalías craneofaciales-defectos cardíacos asociados al gen KAT6 | Síndrome KAT6A · Síndrome de Arboleda-Tham |
| it | Sindrome disabilità intellettiva-anomalie craniofacciali-cardiopatie correlata a KAT6 | Sindrome KAT6A · Sindrome di Arboleda-Tham |
| nl | KAT6-gerelateerd intellectuele achterstand - craniofaciale anomalieën - hartdefecten-syndroom | KAT6A-syndroom · Syndroom van Arboleda-Tham |
| pt | Síndrome de perturbação do desenvolvimento intelectual-anomalias craniofaciais-defeitos cardíacos autossómica dominante | Síndrome Arboleda-Tham · Síndrome KAT6A |
| pl | Związany z KAT6 zespół niepełnosprawności intelektualnej, wad twarzoczaszki i sercaszki oraz wad serca | Autosomalny dominujący zespół niepełnosprawności intelektualnej - anomalii twarzoczaszki - wad serca |
| cs | Syndrom zahrnující autozomálně dominantní mentální retardaci, kraniofaciální anomálie a srdeční vady | = en |
| uk | Аутосомно-домінантний синдром інтелектуальної недостатності - черепно-лицьових аномалій - серцевих вад | Синдром Арболеда-Тама · Синдром KAT6A |
| zh | 常染色体显性遗传性智力障碍-颅面畸形-心脏缺陷综合征 | |
| tr | Otozomal dominant zihinsel yetersizlik-kraniyofasiyal anomaliler-kalp defektleri sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616268 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0014558 | E | validated | |
| UMLS | C4225396 | 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: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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KAT6A | Disease-causing germline mutation(s) in | Assessed | HGNC:13013 | ENSG00000083168 | 601408 | 8p11.21 | lysine acetyltransferase 6A | 25728775[PMID]_25728777[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25728775[PMID]_25728777[PMID]_27133397[PMID] |
| Cases/families | 76 cases | Worldwide | Case(s) | Validated | EXPERT |
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
39 annotations · validated 2018-06-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | Diagnostic criterion |
| HP:0000455 | Broad nasal tip | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | Diagnostic criterion |
| HP:0000252 | Microcephaly | |
| HP:0000341 | Narrow forehead | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002465 | Poor speech | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000219 | Thin upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0001363 | Craniosynostosis | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0000308 | Microretrognathia | |
| HP:0003552 | Muscle stiffness | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001643 | Patent ductus arteriosus | Diagnostic criterion |
| HP:0001357 | Plagiocephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0001332 | Dystonia | |
| HP:0000126 | Hydronephrosis | |
| HP:0002566 | Intestinal malrotation | |
| HP:0007678 | Lacrimal duct stenosis | |
| HP:0001601 | Laryngomalacia | |
| HP:0000648 | Optic atrophy | |
| HP:0004467 | Preauricular pit | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 25728775[PMID]_25728777[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457193
- This record as JSON: /data/d/457193.json