ORPHA:98644
Metabolic disease with cataract
- 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 | Metabolic disease with cataract | |
| fr | Maladie métabolique avec cataracte | |
| de | Katarakt mit assoziierter Stoffwechselkrankheit | |
| es | Enfermedad metabólica con una posible catarata | |
| it | Cataratta associata a malattia metabolica | |
| nl | Cataract geassocieerd met een stofwisselingsziekte | |
| pt | Doença metabólica com catarata | |
| pl | Zaćma w chorobie metabolicznej | |
| cs | Katarakta asociovaná s metabolickým onemocněním | |
| uk | Метаболічні захворювання з катарактою | |
| zh | 代谢性疾病伴白内障 | |
| tr | Katarakt ile seyreden metabolik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681665 | 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
Children (25):
- ORPHA:670483-methylglutaconic aciduria type 4
- ORPHA:4450383-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- ORPHA:79326ALG2-CDG
- ORPHA:79325ALG8-CDG
- ORPHA:14Abetalipoproteinemia
- ORPHA:773Adult Refsum disease
- ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 3
- ORPHA:61Alpha-mannosidosis
- ORPHA:909Cerebrotendinous xanthomatosis
- ORPHA:272Congenital muscular dystrophy, Fukuyama type
- ORPHA:2962De Barsy syndrome
- ORPHA:324Fabry disease
- ORPHA:438178Fatty acyl-CoA reductase 1 deficiency
- ORPHA:352Galactosemia
- ORPHA:414Gyrate atrophy of choroid and retina
- ORPHA:394Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:46059Lathosterolosis
- ORPHA:29Mevalonic aciduria
- ORPHA:581Mucopolysaccharidosis type 3
- ORPHA:585Multiple sulfatase deficiency
- ORPHA:588Muscle-eye-brain disease
- ORPHA:44Neonatal adrenoleukodystrophy
- ORPHA:98907Neutral lipid storage disease with ichthyosis
- ORPHA:709Peters plus syndrome
- ORPHA:615938Spastic paraparesis-cataracts-speech delay syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:98712OBSOLETE: Metabolic disease with cataract 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98644
- This record as JSON: /data/d/98644.json