Partington syndrome
Synonyms: Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (<i>ARX</i>) gene (Xp22.13). Transmission is X-linked recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partington syndrome | Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome |
| fr | Syndrome de Partington | Syndrome de Partington-Mulley · Syndrome de déficience intellectuelle liée à l'X-main en griffe-dysarthrie |
| de | Partington-Syndrom | Partington-Mulley-Syndrom · X-chromosomale Intelligenzminderung mit Dystonie und Dysarthrie |
| es | Síndrome de Partington | Síndrome de Partington-Mulley · Síndrome de discapacidad intelectual-distonía-disartria ligado al cromosoma X |
| it | Sindrome di Partington | Sindrome disabilità intellettiva legata all'X-distonia-disartria · Sindrome di Partington-Mulley |
| nl | Syndroom van Partington | Syndroom van Partington-Mulley · X-gebonden intellectuele achterstand - dystonie - dysartrie-syndroom |
| pt | Síndrome Partington | Síndrome Partington-Mulley · Síndrome de perturbação do desenvolvimento intelectual ligado ao X-distonia-disartria |
| pl | Zespół Partingtona | Niepełnosprawność sprzężona z chromosomem X - dystonia - dyzartria · Zespół Partingtona i Mulley'a |
| cs | Partingtonův syndrom | Syndrom zahrnující X-vázanou mentální retardaci, dystonii a dysartrii · Partingtonův-Mulleyův syndrom · Partington-Mulleyův syndrom |
| uk | Синдром Партингтона | Синдром Партингтона-Маллі · Х-зчеплений синдром інтелектуальної недостатності-дистонії-дизартрії |
| zh | 帕廷顿综合征 | X-连锁智力障碍-肌张力障碍-构音困难综合征 |
| tr | Partington sendromu | Partington-Mulley sendromu · X'e bağlı zihinsel yetersizlik-distoni-dizartri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309510 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0010654 | E | validated | |
| MeSH | C536300 | E | validated | |
| UMLS | C0796250 | E | validated | |
| GARD | 4235 | 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:182079ARX-related epileptic encephalopathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARX | Disease-causing germline mutation(s) in | Assessed | HGNC:18060 | ENSG00000004848 | 300382 | Xp21.3 | aristaless related homeobox | 11889467[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 3177452[PMID]_12376949[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3177452[PMID]_12376949[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
13 annotations · validated 2019-08-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0002451 | Limb dystonia | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| HP:0001288 | Gait disturbance | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000053 | Macroorchidism | |
| Occasional (29-5%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0002353 | EEG abnormality | |
| HP:0007380 | Facial telangiectasia | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 3177452[PMID]_16647850[PMID]_14631200[PMID]_21204215[PMID]_17082467[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94083
- This record as JSON: /data/d/94083.json