Porencephaly-microcephaly-bilateral congenital cataract 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 bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porencephaly-microcephaly-bilateral congenital cataract syndrome | |
| fr | Syndrome de porencéphalie-microcéphalie-cataracte bilatérale congénitale | |
| de | Porenzephalie-Mikrozephalie-bilaterale kongenitale Katarakte-Syndrom | |
| es | Síndrome de porencefalia-microcefalia-catarata congénita bilateral | |
| it | Sindrome porencefalia, microcefalia, cataratta bilaterale congenita | |
| nl | Porencefalie - microcefalie - bilateraal congenitaal cataract-syndroom | |
| pt | Síndrome de porencefalia-microcefalia-catarata bilateral congénita | |
| pl | Zespół porencefalia-mikrocefalia-obustronna zaćma wrodzona | |
| cs | Syndrom zahrnující porencefalii, mikrocefalii a bilaterální vrozenou kataraktu | |
| uk | Синдром поренцефалії-мікроцефалії-двосторонньої вродженої катаракти | |
| zh | 脑出血性破坏伴室管膜下钙化、白内障 | |
| tr | Porensefali-mikrosefali-bilateral Doğumsal katarakt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613730 | E | validated | |
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| MONDO | 0013394 | E | validated | |
| UMLS | C4751076 | 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:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JAM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:15532 | ENSG00000166086 | 606871 | 11q25 | junctional adhesion molecule 3 | 21109224[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 21109224[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306547
- This record as JSON: /data/d/306547.json