Tubulinopathy-associated dysgyria
Synonyms: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy
- Status
- active
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tubulinopathy-associated dysgyria | Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome |
| fr | Dysgyrie associée à une tubulinopathie | Syndrome d'asymétrie du tronc cérébral-dysplasie cérébelleuse supérieure et des ganglions de la base · Syndrome d'asymétrie du tronc cérébral-dysplasie cérébelleuse supérieure et des noyaux gris centraux |
| de | Tubulinopathie-assoziierte Dysgyrie | Hirnstamm-Asymmetrie-superiore zerebelläre und basale Gangliendysplasie-Syndrom |
| es | Disgiria asociada a una tubulinopatía | Síndrome de asimetría del tronco encefálico-displasia cerebelosa superior y de los ganglios basales |
| it | Disgiria associata a tubulinopatia | |
| nl | Tubulinopathie-geassocieerde dysgyrie | Asymmetrie van de hersenstam - dysplasie van het superieur cerebellum en de basale ganglia-syndroom |
| pt | Disgiria associada a tubulinopatia | |
| pl | Nieprawidłowe zakręty mózgu związane z tubulinopatią (Dysgyria związana z tubulinopatią) | Zespół asymetrii pnia mózgu, dysplazji konarów górnych móżdżku i zwojów podstawnych |
| cs | Dysgyrie asociovaná s tubulunopatií | Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome · Syndrom zahrnující asymetrii mozkového kmene, dysplázii předního mozečku a bazálních ganglií |
| uk | Дисгірія, асоційована з тубулінопатією | Синдром асиметрії стовбура мозку - дисплазії верхніх мозочкових і базальних гангліїв |
| zh | 肾小管病相关记忆障碍 | 脑干不对称-小脑上部和基底神经节发育不良综合征 |
| tr | Tübülinopati-ilişkili disji | Beyin sapı asimetrisi-süperior serebellar ve bazal gangliya displazisi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0018763 | E | validated | |
| UMLS | C5568850 | 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 (4):
- ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TUBA1A | Disease-causing germline mutation(s) in | Assessed | HGNC:20766 | ENSG00000167552 | 602529 | 12q13.12 | tubulin alpha 1a | 26130693[PMID] |
| TUBB2B | Disease-causing germline mutation(s) in | Assessed | HGNC:30829 | ENSG00000137285 | 612850 | 6p25.2 | tubulin beta 2B class IIb | 26130693[PMID] |
| TUBB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:20772 | ENSG00000258947 | 602661 | 16q24.3 | tubulin beta 3 class III | 26130693[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 26130693[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26130693[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
24 annotations · validated 2022-09-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0010663 | Abnormality of thalamus morphology | |
| HP:0012502 | Abnormality of the internal capsule | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0032398 | Dysgyria | |
| HP:0001263 | Global developmental delay | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0012547 | Abnormal involuntary eye movements | |
| HP:0040327 | Abnormal morphology of the olfactory bulb | |
| HP:0031882 | Agyria | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001302 | Pachygyria | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001488 | Bilateral ptosis | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001252 | Hypotonia | |
| HP:0012469 | Infantile spasms | |
| HP:0000256 | Macrocephaly | |
| HP:0020214 | Startle-induced seizure | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 26130693[PMID]_26564436[PMID]_34869359[PMID]_26564436[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/467166
- This record as JSON: /data/d/467166.json