Polymicrogyria with optic nerve hypoplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polymicrogyria with optic nerve hypoplasia | |
| fr | Polymicrogyrie avec hypoplasie du nerf optique | |
| de | Polymikrogyrie mit Sehnerv-Hypoplasie | |
| es | Polimicrogiria con hipoplasia del nervio óptico | |
| it | Polimicrogiria con ipoplasia del nervo ottico | |
| nl | Polymicrogyrie met hypoplasie van nervus opticus | Polymicrogyrie met hypoplasie van oogzenuw |
| pt | Polimicrogiria com hipoplasia do nervo óptico | |
| pl | Polimikrogyria z hipoplazją nerwu wzrokowego | |
| cs | Polymikrogyrie s hypoplázií zrakového nervu | |
| uk | Полімікрогірія з гіпоплазією зорового нерва | |
| zh | 多小脑回伴视神经发育不全性 | |
| tr | Optik sinir hipoplazi ile seyreden polimikrogri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0013172 | E | validated | |
| MeSH | C567715 | E | validated | |
| UMLS | C2750798 | 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 (6):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:137905Syndromic optic nerve hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TUBA8 | Disease-causing germline mutation(s) in | Assessed | HGNC:12410 | ENSG00000183785 | 605742 | 22q11.21 | tubulin alpha 8 | 19896110[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19896110[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19896110[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
14 annotations · validated 2019-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001344 | Absent speech | |
| HP:0030048 | Colpocephaly | |
| HP:0001265 | Hyporeflexia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0002126 | Polymicrogyria | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| Occasional (29-5%) | ||
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0012469 | Infantile spasms | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 30016746[PMID]_19896110[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250972
- This record as JSON: /data/d/250972.json