ORPHA:435638
Proximal 3p25.3 microdeletion syndrome
Synonyms: Intellectual disability-epilepsy-stereotypic hand movement syndrome · Proximal del(3)p(25.3) syndrome · Proximal monosomy 3p25.3 syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal 3p25.3 microdeletion syndrome | Intellectual disability-epilepsy-stereotypic hand movement syndrome · Proximal del(3)p(25.3) syndrome · Proximal monosomy 3p25.3 syndrome |
| fr | Syndrome de microdélétion proximale 3p25.3 | Syndrome de del(3)p(25.3) proximale · Syndrome de monosomie 3p25.3 proximale · Syndrome de déficience intellectuelle-épilepsie-mouvements stéréotypés des mains |
| de | Mikrodeletionssyndrom 3p25.3, proximales | Del(3)p(25.3) · Intelligenzminderung-Epilepsie-stereotype Handbewegungen-Syndrom |
| es | Síndrome de microdeleción 3p25.3 proximal | Síndrome de discapacidad intelectual-epilepsia-movimientos estereotipados de las manos · Síndrome de monosomía proximal 3p25.3 · Síndrome del(3)p(25.3) proximal |
| it | Sindrome da microdelezione prossimale 3p25.3 | Sindrome da del(3)p(25.3) prossimale · Sindrome da monosomia prossimale 3p25.3 · Sindrome disabilità cognitiva-epilessia-movimenti stereotipati delle mani · Sindrome disabilità cognitiva-epilessia-movimenti stereotipati delle mani · Del(3)p(25.3) prossimale · Monosomia prossimale 3p25.3 |
| nl | Proximale 3p25.3-microdeletiesyndroom | Proximale del(3)p(25.3)-syndroom · Proximale monosomie 3p25.3-syndroom · Intellectuele achterstand - epilepsie - stereotiepe handbewegingen-syndroom |
| pt | Síndrome de microdeleção 3p25.3 | Del(3)p(25.3) · Monossomia 3p25.3 · Síndrome de perturbação do desenvolvimento intelectual-epilepsia-movimentos estereotipados das mãos |
| pl | Zespół mikrodelecji 3p25.3 | Del(3)p(25.3) · Monosomia 3p25.3 · Zespół niepełnosprawności intelektualnej, padaczki i stereotypowych ruchów ręki |
| cs | Mikrodeleční syndrom 3p25.3 | Del(3)p(25.3) · Syndrom zahrnující mentální retardaci, epilepsii a stereotypní pohyby rukou · Monozomie 3p25.3 |
| uk | Синдром мікроделеції 3p25.3 | Del(3)p(25.3) · Інтелектуальна недостатність-епілепсія-стереотипний синдром рухів рук · Моносомія 3p25.3 |
| zh | 3p25.3微小缺失综合征 | 智力障碍-癫痫-手刻板运动综合征 |
| tr | 3p25.3 mikrodelesyon sendromu | Del(3)p(25.3) · Monozomi 3p25.3 · Zihinsel yetersizlik-epilepsi-stereotipik el hareketi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.31 | NTBT | index | validated |
| MONDO | 0018564 | E | validated | |
| UMLS | C5437630 | 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 (2):
- ORPHA:261875Partial deletion of the short arm of chromosome 3 syndrome
rare developmental anomalies during embryogenesis; rare genetic 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC6A1 | Role in the phenotype of | Assessed | HGNC:11042 | ENSG00000157103 | 137165 | 3p25.3 | solute carrier family 6 member 1 | 25256099[PMID] |
| SLC6A11 | Role in the phenotype of | Assessed | HGNC:11044 | ENSG00000132164 | 607952 | 3p25.3 | solute carrier family 6 member 11 | 25256099[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 25256099[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25256099[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
51 annotations · validated 2016-11-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0001344 | Absent speech | |
| HP:0002002 | Deep philtrum | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001252 | Hypotonia | |
| HP:0000448 | Prominent nose | |
| Occasional (29-5%) | ||
| HP:0001233 | 2-3 finger syndactyly | |
| HP:0010663 | Abnormality of thalamus morphology | |
| HP:0003086 | Acromesomelia | |
| HP:0000463 | Anteverted nares | |
| HP:0001251 | Ataxia | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000581 | Blepharophimosis | |
| HP:0000248 | Brachycephaly | |
| HP:0010055 | Broad hallux | |
| HP:0011304 | Broad thumb | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0000175 | Cleft palate | |
| HP:0006585 | Congenital pseudoarthrosis of the clavicle | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0002705 | High, narrow palate | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000341 | Narrow forehead | |
| HP:0001845 | Overlapping toe | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0100259 | Postaxial polydactyly | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000322 | Short philtrum | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001182 | Tapered finger | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25256099[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435638
- This record as JSON: /data/d/435638.json