Intellectual disability-alacrima-achalasia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-alacrima-achalasia syndrome | |
| fr | Syndrome de déficience intellectuelle-alacrimie-achalasie | |
| de | Intelligenzminderung-Alakrimie-Achalasie-Syndrom | |
| es | Síndrome de discapacidad intelectual-alacrimia-acalasia | |
| it | Sindrome disabilità intellettiva-alacrimia-acalasia | |
| nl | Intellectuele achterstand - alacrimie - achalasie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-alacrimia-acalasia | |
| pl | Niepełnosprawność intelektualna - wrodzony brak łez - achalazja | |
| cs | Syndrom zahrnující mentální retardaci, alakrimii a achalázii | |
| uk | Синдром інтелектуальної недостатності-алакріми-ахалазії | |
| zh | 智力障碍-软化症-贲门失弛缓症综合征 | |
| tr | Zihinsel yetersizlik-alakrima-akalazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300858 | E | validated | |
| ICD-10 | H04.8 | NTBT | attributed | validated |
| MONDO | 0010460 | E | validated | |
| UMLS | C4706563 | 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 (2):
- ORPHA:98604Congenital alacrima
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
HPO phenotypes
16 annotations · validated 2019-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0000522 | Alacrima | |
| HP:0012434 | Delayed social development | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0002571 | Achalasia | |
| HP:0009916 | Anisocoria | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0002002 | Deep philtrum | |
| HP:0002015 | Dysphagia | |
| HP:0000805 | Enuresis | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002119 | Ventriculomegaly | |
| Excluded (0%) | ||
| HP:0000834 | Abnormality of the adrenal glands | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 21744492[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289483
- This record as JSON: /data/d/289483.json