Hypomyelination with atrophy of basal ganglia and cerebellum
Synonyms: H-ABC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Patients present with distinctive MRI findings of diffuse hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy, and atrophy of the basal nuclei.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomyelination with atrophy of basal ganglia and cerebellum | H-ABC |
| fr | Hypomyélinisation avec atrophie des noyaux gris centraux et du cervelet | H-ABC · Hypomyélinisation avec atrophie des ganglions de la base et du cervelet |
| de | Hypomyelinisierung mit Atrophie der Basalganglien und des Kleinhirns | = en |
| es | Hipomielinización con atrofia de los ganglios basales y del cerebelo | = en |
| it | Ipomielinizzazione con atrofia dei gangli basali e del cervelletto | = en |
| nl | Hypomyelinisatie met atrofie van basale ganglia en cerebellum | = en |
| pt | Hipomielinização com atrofia dos gânglios basais e do cerebelo | |
| pl | Hipomielinizacja z zanikiem zwojów podstawnych i móżdżku | = en |
| cs | Hypomyelinizace s atrofií bazálních ganglií a mozečku | = en |
| uk | Гіпомієлінізація з атрофією базальних гангліїв і мозочка | = en |
| zh | 髓鞘形成不足伴基底节和小脑萎缩 | = en |
| tr | Bazal gangliyon ve beyincik atrofisi ile seyreden hipomiyelinazyon | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612438 | BTNT | validated | |
| OMIM | 617899 | BTNT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | index | validated |
| MONDO | 12905 | E | validated | |
| GARD | 10917 | 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:68356Leukodystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TUBB4A | Disease-causing germline mutation(s) in | Assessed | HGNC:20774 | ENSG00000104833 | 602662 | 19p13.3 | tubulin beta 4A class IVa | 23582646[PMID] |
| UFM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20597 | ENSG00000120686 | 610553 | 13q13.3 | ubiquitin fold modifier 1 | 28931644[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 216 cases | Worldwide | Case(s) | Validated | 39951964[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/139441
- This record as JSON: /data/d/139441.json