Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Synonyms: Asparagine synthetase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome | Asparagine synthetase deficiency |
| fr | Syndrome de microcéphalie congénitale-encéphalopathie sévère-atrophie cérébrale progressive | Déficit en asparagine synthétase |
| de | Kongenitale Mikrozephalie-schwere Enzephalopathie-progressive zerebrale Atrophie-Syndrom | Asparagin-Synthetase-Mangel |
| es | Síndrome de microcefalia congénita-encefalopatía grave-atrofia cerebral progresiva | Deficiencia de asparagina sintetasa |
| it | Sindrome da microcefalia congenita, encefalopatia grave e atrofia cerebrale progressiva | Deficit dell'asparagina sintentasi |
| nl | Congenitale microcefalie - ernstige encefalopathie - progressieve cerebrale atrofie-syndroom | Asparaginesynthetasedeficiëntie |
| pt | Síndrome de microcefalia congénita-encefalopatia grave-atrofia cerebral progressiva | |
| pl | Zespół wrodzone małogłowie-ciężka encefalopatia- postępujący zanik mózgu | Niedobór syntetazy kwasu asparaginianowego |
| cs | Syndrom zahrnující vrozenou mikrocefalii, těžkou encefalopatii a progresivní mozkovou atrofii | Deficit asparagin syntetázy |
| uk | Синдром вродженої мікроцефалії-тяжкої енцефалопатії-прогресуючої церебральної атрофії | Дефіцит аспарагінсинтетази |
| zh | 先天性小头畸形-重度脑病-进行性脑萎缩综合征 | 天冬酰胺合成酶缺乏症 |
| tr | Doğumsal mikrosefali-ağır ensefalopati-ilerleyici serebral atrofi sendromu | Asparagin sentetaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615574 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.Y | NTBT | attributed | validated |
| MONDO | 0014258 | E | validated | |
| UMLS | C3809971 | 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:391381Disorder of asparagine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASNS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:753 | ENSG00000070669 | 108370 | 7q21.3 | asparagine synthetase (glutamine-hydrolyzing) | 24139043[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 28776279[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28776279[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/391376
- This record as JSON: /data/d/391376.json