ORPHA:207018
Rare hereditary metabolic disease with peripheral neuropathy
- 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 hereditary metabolic disease with peripheral neuropathy | |
| fr | Maladie métabolique héréditaire avec neuropathie périphérique | |
| de | Seltene hereditäre Stoffwechelkrankheit nit peripherer Neuropathie | |
| es | Enfermedad metabólica rara hereditaria con neuropatía periférica | |
| it | Malattia metabolica ereditaria rara con neuropatia periferica | |
| nl | Zeldzame erfelijke stofwisselingsziekte met perifere neuropathie | |
| pt | Doença rara hereditária metabólica com neuropatia periférica | |
| pl | Rzadka dziedziczna choroba metaboliczna z neuropatią obwodową | |
| cs | Vzácná hereditární metabolická onemocnění s periferní neuropatií | |
| uk | Рідкісне спадкове метаболічне захворювання з периферичною нейропатією | |
| zh | 罕见遗传性代谢疾病伴周围神经病 | |
| tr | Periferik nöropati ile seyreden nadir kalıtsal metabolik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16133 | E | validated | |
| UMLS | C5680814 | 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:207015Rare hereditary disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
Children (34):
- ORPHA:14Abetalipoproteinemia
- ORPHA:95157Acute hepatic porphyria
- ORPHA:139399Adrenomyeloneuropathy
- ORPHA:773Adult Refsum disease
- ORPHA:206583Adult polyglucosan body disease
- ORPHA:96Ataxia with vitamin E deficiency
- ORPHA:118Beta-mannosidosis
- ORPHA:79241Biotinidase deficiency
- ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:909Cerebrotendinous xanthomatosis
- ORPHA:2388Choreoacanthocytosis
- ORPHA:77293Chronic visceral acid sphingomyelinase deficiency
- ORPHA:79095Congenital bile acid synthesis defect type 4
- ORPHA:2962De Barsy syndrome
- ORPHA:527276Encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:324Fabry disease
- ORPHA:414Gyrate atrophy of choroid and retina
- ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- ORPHA:512Metachromatic leukodystrophy
- ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC
- ORPHA:225703Mitochondrial disease with peripheral neuropathy
- ORPHA:746Mitochondrial trifunctional protein deficiency
- ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:611237Parkinsonism with polyneuropathy
- ORPHA:79189Peroxisome biogenesis disorder
- ORPHA:796Sandhoff disease
- ORPHA:521268Sodium-dependent multivitamin transporter deficiency
- ORPHA:31150Tangier disease
- ORPHA:845Tay-Sachs disease
- ORPHA:882Tyrosinemia type 1
- ORPHA:905Wilson disease
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/207018
- This record as JSON: /data/d/207018.json