ORPHA:101940
Rare metabolic liver 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 metabolic liver disease | |
| fr | Maladie métabolique hépatique rare | |
| de | Leberkrankheit, metabolische | |
| es | Enfermedad metabólica hepática | |
| it | Malattia epatica metabolica | |
| nl | Metabole leverziekte | |
| pt | Doença metabólica do fígado, rara | |
| pl | Choroby metaboliczne wątroby | |
| cs | Vzácná metabolická onemocnění jater | |
| uk | Рідкісні метаболічні захворювання печінки | |
| zh | 罕见代谢性肝病 | |
| tr | Nadir metabolik karaciğer hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15115 | E | validated | |
| UMLS | C5681784 | E | validated | |
| GARD | 19790 | E | validated | |
| MedDRA | 10019689 | 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:156601Rare genetic hepatic disease
rare genetic diseases - ORPHA:57146Rare hepatic disease
rare hepatic diseases
Children (39):
- ORPHA:727915APOB-related familial hypobetalipoproteinemia
- ORPHA:618899Acid sphingomyelinase deficiency
- ORPHA:217371Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- ORPHA:60Alpha-1-antitrypsin deficiency
- ORPHA:369942CADDS
- ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- ORPHA:247585Citrullinemia type II
- ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
- ORPHA:205Crigler-Najjar syndrome
- ORPHA:139507Dietary iron overload disease
- ORPHA:234Dubin-Johnson syndrome
- ORPHA:247790FTH1-related iron overload
- ORPHA:284385Familial intrahepatic cholestasis
- ORPHA:2088Fanconi-Bickel syndrome
- ORPHA:397922Ferro-cerebro-cutaneous syndrome
- ORPHA:648562Ferroportin disease
- ORPHA:53693GRACILE syndrome
- ORPHA:79238Galactose epimerase deficiency
- ORPHA:723094Galactose-1-phosphate uridylyltransferase deficiency
- ORPHA:364Glycogen storage disease due to glucose-6-phosphatase deficiency
- ORPHA:367Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiency
- ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiency
- ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency
- ORPHA:659694Hepatic porphyria
- ORPHA:137681Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- ORPHA:469Hereditary fructose intolerance
- ORPHA:275761Lysosomal acid lipase deficiency
- ORPHA:254871Mitochondrial DNA depletion syndrome, hepatocerebral form
- ORPHA:446Neonatal hemochromatosis
- ORPHA:79189Peroxisome biogenesis disorder
- ORPHA:220489Rare hereditary hemochromatosis
- ORPHA:254902Renal tubulopathy-encephalopathy-liver failure syndrome
- ORPHA:3111Rotor syndrome
- ORPHA:3196Steroid dehydrogenase deficiency-dental anomalies syndrome
- ORPHA:882Tyrosinemia type 1
- ORPHA:905Wilson disease
- ORPHA:727861YARS1-related multisystemic 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/101940
- This record as JSON: /data/d/101940.json