ORPHA:457212
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | |
| fr | Syndrome de tremblement essentiel progressif-trouble sévère du langage-dysmorphie faciale-déficience intellectuelle-trouble du comportement | |
| de | Progressiver essentieller Tremor-Sprachstörung-Gesichtsdysmorphie-Intelligenzminderung-Verhaltensstörung-Syndrom | |
| es | Síndrome progresivo de temblor esencial-trastorno del habla-dismorfia facial-discapacidad intelectual-trastorno de la conducta | |
| it | Sindrome tremore essenziale progressivo-deficit del linguaggio-dismorfismi facciali-disabilità intellettiva-anomalie del comportamento | |
| nl | Progressieve essentiële tremor - spraakstoornis - faciale dysmorfie - intellectuele achterstand - gedragsstoornis-syndroom | |
| pt | Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental | |
| pl | Zespół postępującego drżenia samoistnego, upośledzenia mowy, dysmorfii twarzy, niepełnosprawności intelektualnej i nieprawidłowego zachowania | |
| cs | Syndrom zahrnující progresivní esenciální třes, poruchy řeči, faciální dysmorfismus, mentální retardaci a poruchy chování | |
| uk | Синдром прогресуючого есенціального тремору-порушення мовлення-дисморфізму обличчя-інтелектуальної недостатності-аномальної поведінки | |
| zh | 进行性原发性震颤-言语障碍-面部畸形-智力障碍行为异常综合征 | |
| tr | İlerleyici esansiyel titreme-konuşma bozukluğu-yüz dismorfizm-zihinsel yetersizlik-anormal davranış sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616269 | E | validated | |
| ICD-10 | F78.1 | NTBT | attributed | not yet validated |
| MONDO | 0014559 | E | validated | |
| UMLS | C4225395 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:307061Rare genetic tremor disorder
rare genetic diseases - ORPHA:306712Rare tremor disorder
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC6A17 | Disease-causing germline mutation(s) in | Assessed | HGNC:31399 | ENSG00000197106 | 610299 | 1p13.3 | solute carrier family 6 member 17 | 25704603[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 25704603[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25704603[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
22 annotations · validated 2019-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000712 | Emotional lability | |
| HP:0001263 | Global developmental delay | |
| HP:0002378 | Hand tremor | |
| HP:0002705 | High, narrow palate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000343 | Long philtrum | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0002465 | Poor speech | |
| HP:0000742 | Self-mutilation | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0003002 | Breast carcinoma | |
| HP:0005580 | Duplication of renal pelvis | |
| HP:0012114 | Endometrial carcinoma | |
| HP:0000821 | Hypothyroidism | |
| HP:0002540 | Inability to walk | |
| HP:0000748 | Inappropriate laughter | |
| HP:0002861 | Melanoma | |
| HP:0000574 | Thick eyebrow | |
| HP:0000073 | Ureteral duplication | |
Annotation source: 25704603[PMID]_25970702[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457212
- This record as JSON: /data/d/457212.json