Autism spectrum disorder due to AUTS2 deficiency
Synonyms: ASD due to AUTS2 deficiency · AUTS2 syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autism spectrum disorder due to AUTS2 deficiency | ASD due to AUTS2 deficiency · AUTS2 syndrome |
| fr | Trouble du spectre de l'autisme par déficit en AUTS2 | Syndrome AUTS2 |
| de | Autismus-Spektrum-Störung durch AUTS-Mangel | ASD durch AUTS2-Mangel · AUTS2-Syndrom |
| es | Trastorno del espectro autista por deficiencia en AUTS2 | Síndrome AUTS2 · TEA por deficiencia de AUTS2 |
| it | Disturbo dello spettro dell'autismo da deficit di AUTS2 | ASD da deficit di AUTS2 · Sindrome AUTS2 |
| nl | Autismespectrumstoornis door AUTS2-deficiëntie | ASD als gevolg van AUTS2-deficiëntie · AUTS2-syndroom |
| pt | Doença do espectro do autismo por défice de AUTS2 | |
| pl | Zaburzenie ze spektrum autyzmu z powodu niedoboru AUTS2 | ASD z powodu niedoboru AUTS2 · Zespół AUTS2 |
| cs | Porucha autistického spektra způsobená deficitem AUTS2 | AUTS2 syndrom · ASD způsobená deficitem AUTS2 |
| uk | Розлад аутистичного спектру, зумовлений дефіцитом AUTS2 | РАС через дефіцит AUTS2 · Синдром AUTS2 |
| zh | AUTS2基因缺陷所致自闭症谱系障碍 | AUTS2基因缺陷所致ASD |
| tr | AUTS2 eksikliğine bağlı otizm spektrum bozukluğu | AUTS2 sendromu · AUTS2 eksikliğine bağlı ASD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615834 | E | validated | |
| ICD-10 | F84.1 | NTBT | attributed | validated |
| MONDO | 0014361 | E | validated | |
| UMLS | C4749945 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:180772Rare disease with autism
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AUTS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:14262 | ENSG00000158321 | 607270 | 7q11.22 | activator of transcription and developmental regulator AUTS2 | 23332918[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 23332918[PMID]_27075013[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23332918[PMID]_27075013[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.
HPO phenotypes
55 annotations · validated 2019-10-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000729 | Autistic behavior | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000286 | Epicanthus | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000520 | Proptosis | |
| HP:0008762 | Repetitive compulsive behavior | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0025112 | Sound sensitivity | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0100021 | Cerebral palsy | |
| HP:0002803 | Congenital contracture | |
| HP:0000028 | Cryptorchidism | |
| HP:0006184 | Decreased palmar creases | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000752 | Hyperactivity | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0009183 | Joint contracture of the 5th finger | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0002808 | Kyphosis | |
| HP:0004283 | Narrow palm | |
| HP:0100277 | Periauricular skin pits | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0001537 | Umbilical hernia | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23332918[PMID]_27075013[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352490
- This record as JSON: /data/d/352490.json