ORPHA:182070
Rare neurodegenerative disease
- 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 | Rare neurodegenerative disease | |
| fr | Maladie neurodégénérative rare | |
| de | Seltene neurodegenerative Krankheit | |
| es | Enfermedad neurodegenerativa rara | |
| it | Malattia neurodegenerativa rara | |
| nl | Zeldzame neurodegeneratieve ziekte | |
| pt | Doença neurodegenerativa rara | |
| pl | Rzadka choroba neurodegeneracyjna | |
| cs | Vzácná neurodegenerativní onemocnění | |
| uk | Рідкісне нейродегенеративне захворювання | |
| zh | 罕见神经退行性疾病 | |
| tr | Nadir nörodejeneratif hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15918 | E | validated | |
| UMLS | C5680602 | 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 (1):
- ORPHA:98006Rare neurologic disease
rare neurological diseases
Children (59):
- ORPHA:58Alexander disease
- ORPHA:726Alpers-Huttenlocher syndrome
- ORPHA:803Amyotrophic lateral sclerosis
- ORPHA:357043Amyotrophic lateral sclerosis type 4
- ORPHA:352723Attenuated Chédiak-Higashi syndrome
- ORPHA:363969Autosomal recessive cerebral atrophy
- ORPHA:610573CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
- ORPHA:141Canavan disease
- ORPHA:497906Childhood-onset basal ganglia degeneration syndrome
- ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- ORPHA:167Chédiak-Higashi syndrome
- ORPHA:191Cockayne syndrome
- ORPHA:478029Combined oxidative phosphorylation defect type 29
- ORPHA:556985Early-onset calcifying leukoencephalopathy-skeletal dysplasia
- ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:352654Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
- ORPHA:85162Facial onset sensory and motor neuronopathy
- ORPHA:391343Fatal post-viral neurodegenerative disorder
- ORPHA:397922Ferro-cerebro-cutaneous syndrome
- ORPHA:621758Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
- ORPHA:309152GM2 gangliosidosis
- ORPHA:685Hereditary spastic paraplegia
- ORPHA:157946Huntington disease-like 3
- ORPHA:684290Hypertrophic olivary degeneration
- ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome
- ORPHA:457375ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
- ORPHA:1576Infantile bilateral striatal necrosis
- ORPHA:313850Infantile cerebellar-retinal degeneration
- ORPHA:457205Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- ORPHA:481Kennedy disease
- ORPHA:487Krabbe disease
- ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- ORPHA:508093MEPAN syndrome
- ORPHA:221074Marchiafava-Bignami disease
- ORPHA:77299Microphthalmia-brain atrophy syndrome
- ORPHA:52368Mohr-Tranebjaerg syndrome
- ORPHA:457406Multiple mitochondrial dysfunctions syndrome type 4
- ORPHA:569274Multiple mitochondrial dysfunctions syndrome type 5
- ORPHA:569290Multiple mitochondrial dysfunctions syndrome type 6
- ORPHA:102Multiple system atrophy
- ORPHA:555402NAD(P)HX dehydratase deficiency
- ORPHA:555407NAD(P)HX epimerase deficiency
- ORPHA:98534Neurodegenerative disease with dementia
- ORPHA:217382Neurodegenerative syndrome due to cerebral folate transport deficiency
- ORPHA:216Neuronal ceroid lipofuscinosis
- ORPHA:646Niemann-Pick disease type C
- ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndrome
- ORPHA:2836PEHO syndrome
- ORPHA:702Pelizaeus-Merzbacher disease
- ORPHA:35689Primary lateral sclerosis
- ORPHA:314566Primary progressive apraxia of speech
- ORPHA:363400Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
- ORPHA:454706Progressive muscular atrophy
- ORPHA:401768Proximal myopathy with extrapyramidal signs
- ORPHA:505242Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
- ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- ORPHA:43X-linked adrenoleukodystrophy
- ORPHA:85334X-linked neurodegenerative syndrome, Bertini type
- ORPHA:85336X-linked neurodegenerative syndrome, Hamel type
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/182070
- This record as JSON: /data/d/182070.json