ORPHA:412069
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Synonyms: Xia-Gibbs syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | Xia-Gibbs syndrome |
| fr | Syndrome de déficience intellectuelle-apnée obstructive du sommeil-dysmorphie modérée associé à AHDC1 | Syndrome de Xia-Gibbs |
| de | Xia-Gibbs-Syndrom | Intelligenzminderung-obstruktive Schlafapnoe-milde Dysmorphien-Syndrom durch AHDC1-Genmutation · XGS |
| es | Síndrome de discapacidad intelectual-apnea obstructiva del sueño-dismorfia leve asociado a AHDC1 | Síndrome de Xia-Gibbs |
| it | Sindrome da disabilità intellettiva, apnea ostruttiva del sonno e dismorfismi sfumati correlata a AHDC1 | Sindrome di Xia-Gibbs |
| nl | AHDC1-gerelateerd intellectuele achterstand - obstructieve slaapapneu - milde dysmorfie-syndroom | Syndroom van Xia-Gibbs |
| pt | Síndrome de perturbação do desenvolvimento intelectual-apneia do sono obstrutiva-dismorfia ligeira AHDC1-relacionada | Síndrome Xia-Gibbs |
| pl | Zespół niepełnosprawność intelektualna-obturacyjny bezdech senny-łagodna dysmorfia spowodowany mutacjami AHDC1 | Zespół Xia i Gibbsa |
| cs | AHDC1-vázaný syndrom zahrnující mentální retardaci, obstrukční spánkovou apnoe a lehkým dysmorfismem | Xiaův-Gibbsův syndrom · Xia-Gibbsův syndrom |
| uk | Синдром інтелектуальної недостатності, повязаної з AHDC1-обструктивного апное сну-легкого дисморфізму | Синдром Ся-Гіббса |
| zh | AHDC1相关智力障碍-阻塞性睡眠呼吸暂停 | 夏-吉布斯综合征 |
| tr | AHDC1 -ilişkili zihinsel yetersizlik-obstrüktif uyku apnesi-hafif dismorfizm sendromu | Xia-Gibbs sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615829 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014358 | E | validated | |
| UMLS | C4014419 | E | validated | |
| GARD | 13409 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AHDC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25230 | ENSG00000126705 | 615790 | 1p36.11-p35.3 | AT-hook DNA binding motif containing 1 | 24791903[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24791903[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24791903[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
45 annotations · validated 2019-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0001251 | Ataxia | |
| HP:0031936 | Delayed ability to walk | |
| HP:0002474 | Expressive language delay | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001382 | Joint hypermobility | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0011477 | Upbeat nystagmus | |
| HP:0002781 | Upper airway obstruction | |
| Occasional (29-5%) | ||
| HP:0000717 | Autism | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0001363 | Craniosynostosis | |
| HP:0000490 | Deeply set eye | |
| HP:0012448 | Delayed myelination | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002353 | EEG abnormality | |
| HP:0000565 | Esotropia | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001601 | Laryngomalacia | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0025573 | Mild myopia | |
| HP:0000411 | Protruding ear | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0006951 | Retrocerebellar cyst | |
| HP:0002650 | Scoliosis | |
| HP:0000385 | Small earlobe | |
| HP:0025267 | Snoring | |
| HP:0002779 | Tracheomalacia | |
| HP:0009909 | Uplifted earlobe | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30152016[PMID]_29696776[PMID]_24791903[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412069
- This record as JSON: /data/d/412069.json