ORPHA:882
Tyrosinemia type 1
Synonyms: FAH deficiency · Fumarylacetoacetase deficiency · Fumarylacetoacetate hydrolase deficiency · Hepatorenal tyrosinemia · Tyrosinemia type I
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inborn error of tyrosine catabolism characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tyrosinemia type 1 | FAH deficiency · Fumarylacetoacetase deficiency · Fumarylacetoacetate hydrolase deficiency · Hepatorenal tyrosinemia · Tyrosinemia type I |
| fr | Tyrosinémie type 1 | Déficit en FAH · Déficit en fumarylacétoacétase · Déficit en fumarylacétoacétate hydrolase · Tyrosinose hépato-rénale · Tyrosinémie hépato-rénale · Tyrosinémie type I |
| de | Tyrosinämie Typ 1 | FAH-Mangel · Fumarylacetoacetase-Hydrolase-Mangel · Fumarylacetoacetase-Mangel · Tyrosinämie Typ I · Tyrosinämie, hepatorenale |
| es | Tirosinemia tipo 1 | Deficiencia de FAH · Deficiencia de fumarilacetoacetasa · Deficiencia de fumarilacetoacetasa hidrolasa · Tirosinemia hepatorrenal · Tirosinemia tipo I |
| it | Tirosinemia, tipo 1 | Deficit di FAH · Deficit di fumaril acetoacetasi · Deficit di fumaril acetoacetato idrolasi · Tirosinemia epatorenale · Tirosinemia, tipo I |
| nl | Tyrosinemie type 1 | Deficiëntie van fumarylacetoacetaat-hydrolase · Deficiëntie van fumarylacetoacetase · FAH-deficiëntie · Hepatorenale tyrosinemie · Tyrosinemie type I |
| pt | Tirosinemia tipo 1 | Deficiência de fumarilacetoacetase · Tirosinemia hepato-renal |
| pl | Tyrozynemia typu 1 | Niedobór FAH · Niedobór fumaryloacetoacetazy · Niedobór hydrolazy fumaryloacetooctanu · Tyrozynemia typu I · Tyrozynemia wątrobowo-nerkowa |
| cs | Tyrozinemie, typ 1 | FAH deficit · Deficit fumarylacetoacetázy · Deficit fumarylacetoacetát hydrolázy · Hepatorenální tyrosinémie · Tyrosinémie, typ I |
| uk | Тирозинемія, тип 1 | Дефіцит FAH · Дефіцит фумарилацетоацетази · Дефіцит фумарилацетоацетатної гідролази · Гепаторенальна тирозинемія · Тирозинемія I типу |
| zh | 酪氨酸血症1型 | 延胡索酰乙酰乙酸水解酶缺乏症 |
| tr | Tirozinemi tip 1 | FAH eksikliği · Tirozinemi tip I · Hepatorenal tirozinemi · Fumarilasetoasetaz eksikliği · fumarilasetoasetat hidrolaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276700 | E | validated | |
| ICD-10 | E70.2 | NTBT | inclusion | validated |
| ICD-11 | 5C50.11 | E | specific | validated |
| MONDO | 0010161 | E | validated | |
| UMLS | C0268490 | E | validated | |
| GARD | 2658 | E | validated | |
| MedDRA | 10069462 | 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 (7):
- ORPHA:284818Disorder of tyrosine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAH | Disease-causing germline mutation(s) in | Assessed | HGNC:3579 | ENSG00000103876 | 613871 | 15q25.1 | fumarylacetoacetate hydrolase | 20301688[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 / 100 000 | Worldwide | Value and class | Validated | 20301688[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Norway | Value and class | Not yet validated | 20301688[PMID]_22554029[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Finland | Value and class | Validated | 33046095[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.7 / 100 000 | Tunisia | Value and class | Validated | 22481200[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.25 / 100 000 | Specific population | Value and class | Validated | 20301688[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 54 / 100 000 | Specific population | Value and class | Validated | 2378355[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002909 | Generalized aminoaciduria | |
| Occasional (29-5%) | ||
| HP:0006554 | Acute hepatic failure | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0002240 | Hepatomegaly | |
| HP:0006463 | Rickets of the lower limbs | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/882
- This record as JSON: /data/d/882.json