Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Synonyms: CONDBA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | CONDBA |
| fr | Syndrome de régression motrice et cognitive de l'enfance avec syndrome extrapyramidal | |
| de | Im Kindesalter beginnendes motorisches und kognitives Regressions-Syndrom mit extrapyramidaler Bewegungsstörung | CONDBA · Im Kindesalter auftretende Neurodegeneration mit Hirnatrophie |
| es | Síndrome de regresión cognitiva y motora de inicio en la infancia con trastorno extrapiramidal del movimiento | = en |
| it | Regressione motoria e cognitiva ad esordio infantile associata ad anomalie del movimento extrapiramidale | |
| nl | Syndroom van motorische en cognitieve regressie met aanvang in de kindertijd en met extrapiramidale bewegingsstoornis | = en |
| pt | Síndrome de regressão motora e cognitiva de início na infância com doença do movimento extrapiramidal | = en |
| pl | Zespół regresji poznawczej i ruchowej z pozapiramidowymi zaburzeniami ruchu o początku w dzieciństwie | = en |
| cs | Regresní syndrom s extrapyramidovou hybnou poruchou s nástupem v dětství | = en |
| uk | Синдром моторної та когнітивної регресії з екстрапірамідними руховими розладами, що почався в дитинстві | |
| zh | 儿童期起病的认知倒退综合征合并锥体外束运动障碍 | |
| tr | Ekstrapiramidal hareket bozukluğu ile seyreden çocukluk çağı başlangıçlı motor ve bilişsel gerileme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617672 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0044701 | E | validated | |
| UMLS | C5567227 | E | validated | |
| GARD | 13658 | 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:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:307058Miscellaneous movement disorder due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBTF | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:12511 | ENSG00000108312 | 600673 | 17q21.31 | upstream binding transcription factor | 28777933[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 28777933[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28777933[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
33 annotations · validated 2020-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000708 | Atypical behavior | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0002381 | Aphasia | |
| HP:0001332 | Dystonia | |
| HP:0002353 | EEG abnormality | |
| HP:0002066 | Gait ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0002540 | Inability to walk | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0002072 | Chorea | |
| HP:0008947 | Floppy infant | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0000752 | Hyperactivity | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007328 | Impaired pain sensation | |
| HP:0100710 | Impulsivity | |
| HP:0002808 | Kyphosis | |
| HP:0002509 | Limb hypertonia | |
| HP:0000768 | Pectus carinatum | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 28777933[PMID]_29300972[PMID]_31931739[PMID]_30517966[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500180
- This record as JSON: /data/d/500180.json