Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Synonyms: ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| fr | Syndrome tétraplégie spastique-corps calleux fin-microcéphalie postnatale progressive | Déficit en ASCT1 · Syndrome de quadriplégie spastique-corps calleux fin-microcéphalie postnatale progressive |
| de | Spastische Tetraplegie-dünnes Corpus callosum-progressive postnatale Mikrozephalie-Syndrom | ASCT1-Mangel |
| es | Síndrome de tetraplejía espástica-cuerpo calloso delgado-microcefalia progresiva postnatal | Deficiencia de ASCT1 · Síndrome de cuadriplejía espástica-cuerpo calloso delgado-microcefalia progresiva postnatal |
| it | Sindrome tetraplegia spastica-assottigliamento del corpo calloso-microcefalia postnatale progressiva | Deficit di ASCT1 · Sindrome quadriplegia spastica-corpo calloso sottile-microcefalia postnatale progressiva |
| nl | Spastische tetraplegie - dun corpus callosum - progressieve postnatale microcefalie-syndroom | ASCT1-deficiëntie · Spastische quadriplegie - dun corpus callosum - progressieve postnatale microcefalie-syndroom |
| pt | Síndrome de tetraplegia espástica-corpo caloso estreito-microcefalia pós-natal progressiva | |
| pl | Zespół tetraplegii spastycznej, cienkego ciała modzelowatego i postępującej mikrocefalii postnatalnej | Niedobór ASCT1 · Zespół kwadriplegii spastycznej, cienkego ciała modzelowatego i postępującej mikrocefalii postnatalnej |
| cs | Syndrom zahrnující spastickou tetraplegii, tenké corpus callosum a progresivní postnatální mikrocefalii | ASCT1 deficit · Syndrom zahrnující spastickou kvadruplegii, tenké corpus callosum a progresivní postnatální mikrocefalii |
| uk | Синдром спастичноїа тетраплегії-тонкого мозолистого тіла-прогресуючої постнатальної мікроцефалії | Дефіцит ASCT1 · Синдром спастичної квадриплегії - тонкого мозолистого тіла - прогресуючої постнатальної мікроцефалії |
| zh | 痉挛性四肢瘫痪-胼胝体发育不良-生后进行性小头畸形 | ASCT1缺乏 |
| tr | Spastik tetrapleji-ince korpus kallozum-ilerleyici doğum sonrası mikrosefali sendromu | Spastik kuadripleji-ince korpus kallozum-İlerleyici doğum sonrası mikrosefali sendromu · ASCT1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616657 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-10 | Q02 | NTBT | attributed | validated |
| ICD-11 | 5C50.6 | NTBT | attributed | validated |
| MONDO | 0014725 | E | validated | |
| UMLS | C4225254 | E | validated | |
| GARD | 13425 | 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:35705Neurometabolic disorder due to serine deficiency
rare inborn errors of metabolism; 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 |
|---|---|---|---|---|---|---|---|---|
| SLC1A4 | Disease-causing germline mutation(s) in | Assessed | HGNC:10942 | ENSG00000115902 | 600229 | 2p14 | solute carrier family 1 member 4 | 25930971[PMID]_26041762[PMID]_26138499[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 25930971[PMID]_26041762[PMID]_26138499[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25930971[PMID]_26041762[PMID]_26138499[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
34 annotations · validated 2019-12-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0012444 | Brain atrophy | |
| HP:0002015 | Dysphagia | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001270 | Motor delay | |
| HP:0011451 | Primary microcephaly | |
| HP:0005484 | Secondary microcephaly | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0002169 | Clonus | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0012167 | Hair-pulling | |
| HP:0000752 | Hyperactivity | |
| HP:0000316 | Hypertelorism | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0012469 | Infantile spasms | |
| HP:0000737 | Irritability | |
| HP:0000369 | Low-set ears | |
| HP:0002828 | Multiple joint contractures | |
| HP:0003739 | Myoclonic spasms | |
| HP:0000411 | Protruding ear | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000664 | Synophrys | |
| HP:0000020 | Urinary incontinence | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31763347[PMID]_29989513[PMID]_27161889[PMID]_26041762[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447997
- This record as JSON: /data/d/447997.json