ORPHA:68367
Rare inborn error of metabolism
Synonyms: Rare metabolic disease
- Type
- Category
- Group
- Group of disorders
- Status
- active
- Flag
- Head of classification
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare inborn error of metabolism | Rare metabolic disease |
| fr | Erreur innée rare du métabolisme | Maladie métabolique rare |
| de | Seltene angeborene Stoffwechselstörung | Seltene Stoffwechselkrankheit |
| es | Error innato raro del metabolismo | Enfermedad metabólica rara |
| it | Errore congenito raro del metabolismo | Malattia metabolica rara |
| nl | Zeldzame aangeboren stofwisselingsziekte | Zeldzame metabole ziekte · Zeldzame stofwisselingsziekte · Zeldzaam aangeboren defect van stofwisseling · Zeldzame stofwisselingsstoornis |
| pt | Erros congénitos do metabolismo raros | Doença metabólica rara |
| pl | Rzadkie wrodzone wady metabolizmu | Rzadka choroba metaboliczna |
| cs | Vzácné vrozené poruchy metabolismu | Vzácné metabolické onemocnění |
| uk | Рідкісні вроджені помилки метаболізму | Рідкісне метаболічне захворювання |
| zh | 罕见先天性代谢异常 | 罕见代谢疾病 |
| tr | Nadir doğumsal metabolizma hataları | Nadir metabolik hastalık |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 19052 | E | validated | |
| UMLS | C5680169 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Parents in the classifications (1):
- ORPHA:98053Rare genetic disease
rare genetic diseases
Children (13):
- ORPHA:137Congenital disorder of glycosylation
- ORPHA:79062Disorder of amino acid and other organic acid metabolism
- ORPHA:79214Disorder of biogenic amine metabolism and transport
- ORPHA:79161Disorder of carbohydrate metabolism
- ORPHA:79200Disorder of energy metabolism
- ORPHA:309005Disorder of lipid metabolism
- ORPHA:309340Disorder of lysosomal-related organelles
- ORPHA:309824Disorder of metabolite absorption and transport
- ORPHA:309813Disorder of porphyrin and heme metabolism
- ORPHA:79224Disorder of purine or pyrimidine metabolism
- ORPHA:68366Lysosomal disease
- ORPHA:91088Other metabolic disease
- ORPHA:68373Peroxisomal disease
Codes that Orphanet moved or referred to this one:
- ORPHA:2860OBSOLETE: Preeyasombat-Varavithya syndrome referred to · inactive
- ORPHA:3284OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome referred to · inactive
- ORPHA:98710OBSOLETE: Metabolic disease associated with ocular features referred to · inactive
- ORPHA:98711OBSOLETE: Metabolic disease with corneal opacity referred to · inactive
- ORPHA:98713OBSOLETE: Metabolic disease with pigmentary retinitis referred to · inactive
- ORPHA:98714OBSOLETE: Metabolic disease with macular cherry-red spot referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.3 / 100 000 | Germany | Value and class | Validated | 21689452[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/68367
- This record as JSON: /data/d/68367.json