ORPHA:2379
Early-onset parkinsonism-intellectual disability syndrome
Synonyms: Laxova-Opitz syndrome · Waisman syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset parkinsonism-intellectual disability syndrome | Laxova-Opitz syndrome · Waisman syndrome |
| fr | Syndrome de parkinsonisme précoce-déficience intellectuelle | Syndrome de Laxova-Opitz · Syndrome de Waisman |
| de | Frühbeginnender Parkinsonismus-Intelligenzminderung-Syndrom | Laxova-Opitz-Syndrom · Waisman-Syndrom |
| es | Síndrome de parkinsonismo de inicio precoz-discapacidad intelectual | Síndrome de Laxova-Opitz · Síndrome de Waisman |
| it | Parkinsonismo ad esordio precoce-disabilità intellettiva | Sindrome di Laxova-Opitz · Sindrome di Waisman |
| nl | Ziekte van Parkinson met vroege aanvang - intellectuele achterstand-syndroom | Syndroom van Laxova-Opitz · Syndroom van Waisman |
| pt | Síndrome de parkinsonismo de início precoce-perturbação do desenvolvimento intelectual | Síndrome Laxova-Opitz · Síndrome Waisman |
| pl | Parkinsonizm o wczesnym początku - niepełnosprawność intelektualna | Zespół Laxova i Opitza · Zespół Waismana |
| cs | Syndrom zahrnující parkinsonismus s časným nástupem a mentální retardaci | Laxova-Opitzův syndrom · Waismanův syndrom |
| uk | Синдром раннього паркінсонізму та інтелектуальної недостатності | Синдром Лаксова-Опітца · Синдром Вайсмана |
| zh | 早发型帕金森症-智力障碍综合征 | Laxova-Opitz综合征 |
| tr | Erken başlangıçlı parkinson-zihinsel yetersizlik sendromu | Waisman sendromu · Laxova-Opitz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311510 | E | validated | |
| ICD-10 | G20 | NTBT | attributed | validated |
| ICD-11 | LD90.1 | E | specific | validated |
| MONDO | 0010709 | E | validated | |
| MeSH | C537179 | E | validated | |
| UMLS | C0796195 | E | validated | |
| GARD | 3203 | 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 (3):
- ORPHA:307055Rare parkinsonian syndrome due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAB39B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16499 | ENSG00000155961 | 300774 | Xq28 | RAB39B, member RAS oncogene family | 25434005[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 4025396[PMID]_25434005[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4025396[PMID]_25434005[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.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002396 | Cogwheel rigidity | |
| HP:0002007 | Frontal bossing | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0002063 | Rigidity | |
| Frequent (79-30%) | ||
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
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/2379
- This record as JSON: /data/d/2379.json