Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Synonyms: Poretti-Boltshauser syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | Poretti-Boltshauser syndrome |
| fr | Syndrome d'ataxie-déficience intellectuelle-apraxie oculomotrice-kystes cérébelleux | Syndrome de Poretti-Boltshauser |
| de | Ataxie-Intelligenzminderung-okulomotorische Apraxie-zerebelläre Zysten-Syndrom | Poretti-Boltshauser-Syndrom |
| es | Síndrome de ataxia-discapacidad intelectual-apraxia oculomotora-quistes cerebelosos | Síndrome de Poretti-Boltshauser |
| it | Sindrome atassia-disabilità intellettiva-aprassia oculomotoria-cisti cerebellari | Sindrome di Poretti-Boltshauser |
| nl | Ataxie - intellectuele achterstand - oculomotorische apraxie - cerebellaire cysten-syndroom | Syndroom van Poretti-Boltshauser |
| pt | Síndrome de ataxia-perturbação do desenvolvimento intelectual-apraxia oculomotora-quistos cerebelosos | |
| pl | Zespół ataksja-niepełnosprawność intelektualna-apraksja okoruchowa-torbiele móżdżku | = en |
| cs | Syndrom zahrnující ataxii, mentální retardaci, okulomotorickou apraxii a mozečkové cysty | = en |
| uk | Синдром атаксії-інтелектуальної недостатності-окуломоторної апраксії-кіст мозочка | Синдром Поретті-Больцгаузера |
| zh | 共济失调-智力障碍-动眼神经失用-小脑囊肿综合征 | Poretti-Boltshauser综合征 |
| tr | Ataksi-zihinsel yetersizlik-okülomotor apraksi-serebellar kist sendromu | Poretti-Boltshauser sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615960 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0014419 | E | validated | |
| UMLS | C4014821 | 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 (6):
- ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:730406Genetic syndrome with a posterior fossa cystic malformation as a major feature
rare genetic diseases - ORPHA:98688Oculomotor apraxia
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:729566Syndrome with a posterior fossa cystic malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAMA1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6481 | ENSG00000101680 | 150320 | 18p11.31 | laminin subunit alpha 1 | 25105227[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24013853[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
22 annotations · validated 2019-11-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0002350 | Cerebellar cyst | |
| HP:0007033 | Cerebellar dysplasia | |
| HP:0100543 | Cognitive impairment | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0002342 | Intellectual disability, moderate | |
| Frequent (79-30%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0000646 | Amblyopia | |
| HP:0011933 | Elongated superior cerebellar peduncle | |
| HP:0001263 | Global developmental delay | |
| HP:0007068 | Inferior vermis hypoplasia | |
| HP:0000545 | Myopia | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001105 | Retinal atrophy | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002599 | Head titubation | |
| HP:0000540 | Hypermetropia | |
| HP:0001252 | Hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0000556 | Retinal dystrophy | |
| Very rare (<4-1%) | ||
| HP:0000750 | Delayed speech and language development | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 26932191[PMID]_28283601[PMID]_25105227[PMID]_24013853[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370022
- This record as JSON: /data/d/370022.json