Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome | |
| fr | Syndrome d'atrophie cérébrale et cérébelleuse diffuse-épilepsie réfractaire-microcéphalie progressive | |
| de | Diffuse zerebrale und zerebelläre Atrophie-Intraktable Krämpfe-progressive Mikrozephalie-Syndrom | |
| es | Síndrome de atrofia cerebral y cerebelosa difusa-crisis intratables-microcefalia progresiva | |
| it | Sindrome da atrofia cerebrale e cerebellare generalizzata, crisi epilettiche non trattabili e microcefalia progressiva | |
| nl | Diffuse cerebrale en cerebellaire atrofie - onbehandelbare insulten - progressieve microcefalie-syndroom | |
| pt | Síndrome de atrofia cerebral e cerebelosa difusa-convulsões intratáveis-microcefalia progressiva | |
| pl | Zespół rozlanego zaniku mózgu i móżdżku, lekoopornych napadów padaczkowych i postępującego małogłowia | |
| cs | Syndrom zahrnující difuzní cerebrální a cerebelární atrofii, nezvladatelné záchvaty a progresivní mikrocefalii | |
| uk | Синдром дифузної атрофії головного мозку та мозочка-невиліковних судом-прогресуючої мікроцефалії | |
| zh | 弥漫性脑和小脑萎缩-顽固性癫痫-进行性小头综合征 | |
| tr | Yaygın serebral ve serebellar atrofi-inatçı nöbetler-ilerleyici mikrosefali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615760 | E | validated | |
| ICD-10 | G98 | NTBT | attributed | validated |
| MONDO | 0014335 | E | validated | |
| UMLS | C5190583 | 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:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| QARS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9751 | ENSG00000172053 | 603727 | 3p21.31 | glutaminyl-tRNA synthetase 1 | 24656866[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24656866[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24656866[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404437
- This record as JSON: /data/d/404437.json