ORPHA:453504
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Neonatal
- Status
- active
This disease is described under Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | |
| fr | Syndrome de dysmorphie craniofaciale-anomalies squelettiques-cardiopathie-trouble neurologique du développement dû à une mutation ponctuelle | |
| de | Neurologische Entwicklungsstörungen-kranio-faziale Dysmorphie-Herzfehler-Hüftdysplasie-Syndrom durch Punktmutationen | |
| es | Síndrome de trastorno del neurodesarrollo-dismorfia craneofacial-defecto cardíaco-anomalías esqueléticas, por una mutación puntual | |
| it | Sindrome difetto del neurosviluppo-dismorfismi craniofacciali-cardiopatia-displasia dell'anca, da mutazione puntiforme | Sindrome di Au-Kline |
| nl | Neurologische ontwikkelingsstoornis - craniofaciale dysmorfie - hartdefect - skeletanomalieën-syndroom door een puntmutatie | |
| pt | Síndrome de perturbação do neurodesenvolvimento-dismorfia craniofacial-anomalia cardíaca-anomalias esqueléticas devido a uma mutação pontual | |
| pl | Zespół zaburzeń nerurorozwojowych-dysmorfii twarzoczaszki-wady serca-anomalii szkieletowych wywołany mutacją punktową | Zespół Au i Kline |
| cs | Syndrom zahrnující neurovývojovou poruchu, kraniofaciální dysmorfismus, srdeční vady a kyčelní dysplázii, způsobený bodovými mutacemi | Auův-Klinové syndrom · Au-Klinové syndrom |
| uk | Синдром порушення нейророзвитку-черепно-лицьового дизморфізму-серцевої вади-скелетних аномалій, зумовлений точковою мутацією | |
| zh | 点突变引起的神经发育障碍-颅面畸形-心脏缺陷-骨骼异常综合征 | |
| tr | Nokta mutasyonuna bağlı nörogelişimsel bozukluk-kraniyofasiyal dismorfizm-kardiyak defekt-iskelet anomalileri sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616580 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| UMLS | C5848390 | 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 (1):
- ORPHA:453499Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNRNPK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5044 | ENSG00000165119 | 600712 | 9q21.32 | heterogeneous nuclear ribonucleoprotein K | 26173930[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 29904177[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29904177[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.
6
HPO phenotypes
90 annotations · validated 2020-11-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001252 | Hypotonia | |
| HP:0000637 | Long palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000455 | Broad nasal tip | |
| HP:0003763 | Bruxism | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000689 | Dental malocclusion | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002711 | Exaggerated median tongue furrow | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0001510 | Growth delay | |
| HP:0001385 | Hip dysplasia | |
| HP:0000126 | Hydronephrosis | |
| HP:0002540 | Inability to walk | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000276 | Long face | |
| HP:0000158 | Macroglossia | |
| HP:0000252 | Microcephaly | |
| HP:0000194 | Open mouth | |
| HP:0002465 | Poor speech | |
| HP:0002650 | Scoliosis | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0006481 | Abnormality of primary teeth | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0004942 | Aortic aneurysm | |
| HP:0001284 | Areflexia | |
| HP:0001631 | Atrial septal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0010297 | Bifid tongue | |
| HP:0000193 | Bifid uvula | |
| HP:0009794 | Branchial anomaly | |
| HP:0000175 | Cleft palate | |
| HP:0000280 | Coarse facial features | |
| HP:0000589 | Coloboma | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002019 | Constipation | |
| HP:0000476 | Cystic hygroma | |
| HP:0003388 | Easy fatigability | |
| HP:0002572 | Episodic vomiting | |
| HP:0007655 | Eversion of lateral third of lower eyelids | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0002578 | Gastroparesis | |
| HP:0002046 | Heat intolerance | |
| HP:0002705 | High, narrow palate | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000821 | Hypothyroidism | |
| HP:0007328 | Impaired pain sensation | |
| HP:0004389 | Intestinal pseudo-obstruction | |
| HP:0003186 | Inverted nipples | |
| HP:0001382 | Joint hypermobility | |
| HP:0004443 | Lambdoidal craniosynostosis | |
| HP:0011330 | Metopic synostosis | |
| HP:0001324 | Muscle weakness | |
| HP:0000545 | Myopia | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0002877 | Nocturnal hypoventilation | |
| HP:0010807 | Open bite | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000938 | Osteopenia | |
| HP:0001548 | Overgrowth | |
| HP:0001763 | Pes planus | |
| HP:0100259 | Postaxial polydactyly | |
| HP:0004467 | Preauricular pit | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0001954 | Recurrent fever | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0004442 | Sagittal craniosynostosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000586 | Shallow orbits | |
| HP:0002558 | Supernumerary nipple | |
| HP:0001762 | Talipes equinovarus | |
| HP:0009804 | Tooth agenesis | |
| HP:0011807 | Type 1 muscle fiber atrophy | |
| HP:0011147 | Typical absence seizure | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29904177[PMID]_30998304[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/453504
- This record as JSON: /data/d/453504.json