Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | |
| fr | Atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive | |
| de | Infantile zerebrale und zerebelläre Atrophie mit postnataler progressiver Mikrozephalie | |
| es | Atrofia cerebral y cerebelosa infantil con microcefalia postnatal progresiva | |
| it | Atrofia cerebro-cerebellare infantile con microcefalia postnatale progressiva | |
| nl | Infantiele cerebrale en cerebellaire atrofie met postnatale progressieve microcefalie | |
| pt | Atrofia cerebral e cerebelosa da infância com microcefalia pós-natal progressiva | |
| pl | Dziecięcy zanik mózgu i móżdżku z postnatalną postępującą mikrocefalią | |
| cs | Infantilní cerebrální a cerebelární atrofie s postnatální progresivní mikrocefalií | |
| uk | Дитяча церебральна та мозочкова атрофія з постнатальною прогресуючою мікроцефалією | |
| zh | 小儿脑和小脑萎缩伴产后进行性小头畸形 | |
| tr | Doğum sonrası ilerleyici mikrosefali ile seyreden infantil serebral ve serebellar atrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613668 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0013351 | E | validated | |
| UMLS | C4749432 | E | validated | |
| GARD | 10995 | 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 (1):
- 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 |
|---|---|---|---|---|---|---|---|---|
| MED17 | Disease-causing germline mutation(s) in | Assessed | HGNC:2375 | ENSG00000042429 | 603810 | 11q21 | mediator complex subunit 17 | 20950787[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 20950787[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20950787[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/402364
- This record as JSON: /data/d/402364.json