ORPHA:263410
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | |
| fr | Syndrome de spasmes infantiles-retard psychomoteur-atrophie cérébrale progressive-anomalie des ganglions de la base | |
| de | Infantile Spasmen-psychomotorische Retardierung-progressive Hirnatrophie-Basalganglienerkrankung-Syndrom | |
| es | Síndrome de espasmos infantiles-retraso psicomotor-atrofia cerebral progresiva-enfermedad de los ganglios basales | |
| it | Sindrome da spasmi infantili, ritardo psicomotorio, atrofia cerebrale progressiva e malattia dei gangli basali | |
| nl | Infantiele spasmen - psychomotorische retardatie - progressieve hersenatrofie - basale gangliaziekte-syndroom | |
| pt | Síndrome de espasmos infantis-atraso psicomotor-atrofia cerebral progressiva-doença dos gânglios basais | |
| pl | Zespół drgawek niemowlęcych, opóźnienia psychoruchowego, postępującego zaniku mózgu oraz choroby zwojów podstawnych | |
| cs | Syndrom zahrnující infantilní spazmy, psychomotorickou retardaci, progresivní atrofii mozku a onemocnění bazálních ganglií | |
| uk | Синдром інфантильних спазмів-психомоторної затримки-прогресуючої атрофії головного мозку-хвороби базальних гангліїв | |
| zh | 婴儿痉挛-精神运动性迟滞-进行性脑萎缩-基底节病综合征 | |
| tr | İnfantil spazmlar-psikomotor gerilik-ilerleyici beyin atrofisi-bazal gangliya hastalığı sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607483 | E | validated | |
| ICD-10 | E51.8 | NTBT | attributed | validated |
| ICD-11 | 5B5A.Y | NTBT | attributed | validated |
| MONDO | 16981 | E | validated | |
| UMLS | C5190692 | 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:298644Disorder of thiamine metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC19A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:16266 | ENSG00000135917 | 606152 | 2q36.3 | solute carrier family 19 member 3 | 21176162[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 21176162[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
25 annotations · validated 2019-10-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001263 | Global developmental delay | |
| HP:0012697 | Small basal ganglia | |
| Frequent (79-30%) | ||
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
| HP:0001251 | Ataxia | |
| HP:0001289 | Confusion | |
| HP:0002329 | Drowsiness | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0030215 | Inappropriate crying | |
| HP:0007105 | Infantile encephalopathy | |
| HP:0000737 | Irritability | |
| HP:0007185 | Loss of consciousness | |
| HP:0002465 | Poor speech | |
| HP:0000711 | Restlessness | |
| HP:0001250 | Seizure | |
| HP:0002273 | Tetraparesis | |
| Occasional (29-5%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0008947 | Floppy infant | |
| HP:0004302 | Functional motor deficit | |
| HP:0012469 | Infantile spasms | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30054086[PMID]_23742248[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263410
- This record as JSON: /data/d/263410.json