Polymicrogyria due to TUBB2B mutation
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polymicrogyria due to TUBB2B mutation | |
| fr | Polymicrogyrie due à une mutation TUBB2B | |
| de | Polymikrogyrie durch TUBB2B-Genmutation | |
| es | Polimicrogiria por una mutación en el gen TUBB2B | |
| it | Polimicrogiria da mutazione TUBB2B | |
| nl | Polymicrogyrie door TUBB2B-mutatie | |
| pt | Polimicrogiria devido a mutação no gene TUBB2B | |
| pl | Polimikrogyria z powodu mutacji TUBB3 | |
| cs | Polymikrogyrie způsobená mutací v TUBB2B genu | |
| uk | Полімікрогірія, зумовлена мутацією TUBB2B | |
| zh | TUBB2B变异所致多小脑回畸形 | |
| tr | TUBB2B mutasyonuna bağlı polimikrogri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610031 | NTBT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0012399 | E | validated | |
| MONDO | 12399 | E | validated | |
| UMLS | C5681081 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar 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:269523Syndrome with a cerebellar 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 |
|---|---|---|---|---|---|---|---|---|
| TUBB2B | Disease-causing germline mutation(s) in | Assessed | HGNC:30829 | ENSG00000137285 | 612850 | 6p25.2 | tubulin beta 2B class IIb | 19465910[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 36 cases | Worldwide | Case(s) | Validated | 19465910[PMID]_17036343[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
30 annotations · validated 2019-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0002539 | Cortical dysplasia | |
| HP:0002126 | Polymicrogyria | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001269 | Hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| Occasional (29-5%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0002339 | Abnormal caudate nucleus morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0025102 | Dysgenesis of the basal ganglia | |
| HP:0008947 | Floppy infant | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0012377 | Hemianopia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0007301 | Oromotor apraxia | |
| HP:0001302 | Pachygyria | |
| HP:0012650 | Perisylvian polymicrogyria | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| Very rare (<4-1%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001339 | Lissencephaly | |
| HP:0010636 | Schizencephaly | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26130693[PMID]_22333901[PMID]_19465910[PMID]_16401865[PMID]_10891642[PMID]_27010057[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300573
- This record as JSON: /data/d/300573.json