ORPHA:68356
Leukodystrophy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukodystrophy | |
| fr | Leucodystrophie | |
| de | Leukodystrophie | |
| es | Leucodistrofia | |
| it | Leucodistrofia | |
| nl | Leukodystrofie | |
| pt | Leucodistrofia | |
| pl | Leukodystrofia | |
| cs | Leukodystrofie | |
| uk | Лейкодистрофія | |
| zh | 脑白质营养不良 | |
| tr | Lökodistrofi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8A44 | E | specific | validated |
| MONDO | 0019046 | E | validated | |
| MONDO | 19046 | E | validated | |
| UMLS | C0023520 | E | validated | |
| GARD | 6895 | E | validated | |
| MedDRA | 10024381 | 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 (2):
- ORPHA:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:98006Rare neurologic disease
rare neurological diseases
Children (49):
- ORPHA:2894944H leukodystrophy
- ORPHA:773Adult Refsum disease
- ORPHA:99027Adult-onset autosomal dominant leukodystrophy
- ORPHA:313808Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- ORPHA:652532Adult-onset progressive leukoencephalopathy-early-onset deafness
- ORPHA:51Aicardi-Goutières syndrome
- ORPHA:58Alexander disease
- ORPHA:502444Alkaline ceramidase 3 deficiency
- ORPHA:495844C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:135CACH syndrome
- ORPHA:369942CADDS
- ORPHA:141Canavan disease
- ORPHA:909Cerebrotendinous xanthomatosis
- ORPHA:85136Cystic leukoencephalopathy without megalencephaly
- ORPHA:1659Dermatoleukodystrophy
- ORPHA:556985Early-onset calcifying leukoencephalopathy-skeletal dysplasia
- ORPHA:729649Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder
- ORPHA:662229Episodic memory defect leukoencephalopathy
- ORPHA:599376Hypomyelination of early myelinating structures
- ORPHA:139441Hypomyelination with atrophy of basal ganglia and cerebellum
- ORPHA:363412Hypomyelination with brain stem and spinal cord involvement and leg spasticity
- ORPHA:85163Hypomyelination-congenital cataract syndrome
- ORPHA:487Krabbe disease
- ORPHA:139444Leukoencephalopathy with bilateral anterior temporal lobe cysts
- ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- ORPHA:363540Leukoencephalopathy with mild cerebellar ataxia and white matter edema
- ORPHA:163684Leukoencephalopathy-dystonia-motor neuropathy syndrome
- ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- ORPHA:314051Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- ORPHA:597874MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
- ORPHA:2478Megalencephalic leukoencephalopathy with subcortical cysts
- ORPHA:512Metachromatic leukodystrophy
- ORPHA:457406Multiple mitochondrial dysfunctions syndrome type 4
- ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:2770Nasu-Hakola disease
- ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:702Pelizaeus-Merzbacher disease
- ORPHA:280270Pelizaeus-Merzbacher-like disease
- ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- ORPHA:79189Peroxisome biogenesis disorder
- ORPHA:139447Progressive cavitating leukoencephalopathy
- ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:99852Ravine syndrome
- ORPHA:440706Ribose-5-P isomerase deficiency
- ORPHA:99015Spastic paraplegia type 2
- ORPHA:611207Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
- ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:43X-linked adrenoleukodystrophy
Codes that Orphanet moved or referred to this one:
- ORPHA:84096OBSOLETE: Unknown leukodystrophy referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/68356
- This record as JSON: /data/d/68356.json