ORPHA:99027
Adult-onset autosomal dominant leukodystrophy
Synonyms: ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset autosomal dominant leukodystrophy | ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy |
| fr | Leucodystrophie autosomique dominante de l'adulte | ADLD · Leucodystrophie démyélinisante autosomique dominante de l'adulte |
| de | Leukodystrophie, autosomal-dominante, im Erwachsenenalter beginnend | ADLD · Adulte autosomal-dominante demyelinisierende Leukodystrophie |
| es | Leucodistrofia autosómica dominante de inicio en el adulto | ADLD · Leucodistrofia desmielinizante autosómica dominante de inicio en el adulto |
| it | Leucodistrofia autosomica dominante a esordio nell'età adulta | ADLD · Leucodistrofia demielinizzante autosomica dominante a esordio nell'età adulta |
| nl | Autosomaal dominante leukodystrofie met aanvang in de volwassenheid | ADLD · Autosomaal dominante demyeliniserende leukodystrofie met aanvang in de volwassenheid |
| pt | Leucodistrofia autossómica dominante de início no adulto | Doença de Pelizaeus-Merzbacher autossómica dominante de início tardio |
| pl | Autosomalna dominująca leukodystrofia dorosłych | ADLD · Autosomalna dominująca leukodystrofia demielinizująca dorosłych |
| cs | Autozomálně dominantní leukodystrofie s manifestací v dospělosti | ADLD · Autozomálně dominantní demyelinizační leukodystrofie s manifestací v dospělosti |
| uk | Аутосомно-домінантна лейкодистрофія, що починається в дорослому віці | ADLD · Аутосомно-домінантна демієлінізуюча лейкодистрофія, що починається в дорослому віці |
| zh | 成人起病型常染色体显性遗传脑白质营养不良症 | 成人起病常染色体显性遗传脱髓鞘性白质营养不良 |
| tr | Yetişkin başlangıçlı otozomal dominant lökodistrofi | ADLD · Erişkin başlangıçlı otozomal dominant demiyelinizan lökodistrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 169500 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.1 | NTBT | index | validated |
| MONDO | 0008215 | E | validated | |
| MeSH | C566813 | E | validated | |
| UMLS | C1868512 | E | validated | |
| GARD | 10587 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:262869Partial duplication of the long arm of chromosome 5 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6637 | ENSG00000113368 | 150340 | 5q23.2 | lamin B1 | 24501781[PMID]_23649844[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
61 annotations · validated 2021-04-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0001251 | Ataxia | |
| Frequent (79-30%) | ||
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0007377 | Abnormality of somatosensory evoked potentials | |
| HP:0011931 | Abnormality of the cerebellar peduncle | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0005341 | Autonomic bladder dysfunction | |
| HP:0003487 | Babinski sign | |
| HP:0002936 | Distal sensory impairment | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001347 | Hyperreflexia | |
| HP:0001324 | Muscle weakness | |
| HP:0001257 | Spasticity | |
| HP:0001337 | Tremor | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0002345 | Action tremor | |
| HP:0000970 | Anhidrosis | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0007369 | Atrophy/Degeneration affecting the cerebrum | |
| HP:0002169 | Clonus | |
| HP:0100543 | Cognitive impairment | |
| HP:0002019 | Constipation | |
| HP:0007480 | Decreased sweating due to autonomic dysfunction | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0002015 | Dysphagia | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0100639 | Erectile dysfunction | |
| HP:0001371 | Flexion contracture | |
| HP:0004302 | Functional motor deficit | |
| HP:0002599 | Head titubation | |
| HP:0001276 | Hypertonia | |
| HP:0002045 | Hypothermia | |
| HP:0006886 | Impaired distal vibration sensation | |
| HP:0010831 | Impaired proprioception | |
| HP:0000802 | Impotence | |
| HP:0002080 | Intention tremor | |
| HP:0004395 | Malnutrition | |
| HP:0003326 | Myalgia | |
| HP:0000639 | Nystagmus | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0002200 | Pseudobulbar signs | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0002064 | Spastic gait | |
| HP:0005968 | Temperature instability | |
| HP:0002273 | Tetraparesis | |
| HP:0007351 | Upper limb postural tremor | |
| HP:0000016 | Urinary retention | |
| HP:0000012 | Urinary urgency | |
| Very rare (<4-1%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000726 | Dementia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31695592[PMID]_29302065[PMID]_26749591[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99027
- This record as JSON: /data/d/99027.json