ORPHA:1568
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Synonyms: Pettigrew Syndrome · AP1S2-related neurodevelopmental disorder · AP1S2-related X-linked intellectual disability
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | Pettigrew Syndrome · AP1S2-related neurodevelopmental disorder · AP1S2-related X-linked intellectual disability |
| fr | Syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions | Syndrome de Pettigrew · Syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des ganglions de la base-convulsions · Trouble du neurodéveloppement associé à AP1S2 · Syndrome de déficience intellectuelle liée à l'X associé à AP1S2 |
| de | X-chromosomale Intelligenzminderung-Dandy-Walker-Fehlbildung-Basalganglienkrankheit-Krämpfe-Syndrom | X-chromosomale Intelligenzminderung, AP1S2-assoziierte · Pettigrew-Syndrom · AP1S2-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de discapacidad intelectual-malformación de Dandy-Walker-enfermedad de los ganglios basales-crisis ligado al cromosoma X | Síndrome de Pettigrew · Discapacidad intelectual asociada al gen AP1S2 |
| it | Sindrome disabilità cognitiva legata all'X-malformazione di Dandy-Walker-malattia dei gangli della base-epilessia | Disabilità intellettiva legata all'X correlata ad AP1S2 · Sindrome di Pettigrew · Malattia del neurosviluppo correlata ad AP1S2 |
| nl | X-gebonden intellectuele achterstand - Dandy-Walker malformatie - aandoening van basale ganglia - insulten-syndroom | AP1S2-gerelateerde neurologische ontwikkelingsstoornis · AP1S2-gerelateerde X-gebonden intellectuele achterstand · Syndroom van Pettigrew |
| pt | Síndrome de perturbação do desenvolvimento intelectual-malformação Dandy-Walker-doença dos gânglios basais-convulsões ligada ao X | Síndrome Pettigrew |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - malformacja Dandy'ego i Walkera - choroba zwojów podstawnych - napady padaczkowe | Sprzęzony z chromosomem X zespół niepełnosprawności intelektualnej, malformacji Dandy-Walkera, choroby zwojów podstawy mózgu oraz drgawek |
| cs | Syndrom zahrnující X-vázanou mentální retardaci, Dandyho-Walkerovu malformaci, postižení bazálních ganglií a záchvaty | Syndrom zahrnující X-vázanou mentální retardaci, Dandy-Walkerovu malformaci, postižení bazálních ganglií a záchvaty |
| uk | Х-зчеплена розумова відсталість - вада розвитку Денді-Уокера - хвороба базальних гангліїв - судомний синдром | Синдром Петтігрю |
| zh | X连锁智力障碍-Dandy-Walker畸形-基底神经节疾病-癫痫发作综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-Dandy-Walker malformasyonu-bazal ganglion hastalığı-nöbet sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304340 | NTBT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 10574 | E | validated | |
| MeSH | C535773 | E | validated | |
| UMLS | C0796254 | E | validated | |
| GARD | 8520 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AP1S2 | Disease-causing germline mutation(s) in | Assessed | HGNC:560 | ENSG00000182287 | 300629 | Xp22.2 | adaptor related protein complex 1 subunit sigma 2 | 23756445[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 23756445[PMID]_23756445[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.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000256 | Macrocephaly | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1568
- This record as JSON: /data/d/1568.json