ORPHA:28378
Tyrosinemia type 2
Synonyms: Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia · Richner-Hanhart syndrome · Tyrosinemia due to TAT deficiency · Tyrosinemia due to tyrosine aminotransferase deficiency · Tyrosinemia type II
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tyrosinemia type 2 | Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia · Richner-Hanhart syndrome · Tyrosinemia due to TAT deficiency · Tyrosinemia due to tyrosine aminotransferase deficiency · Tyrosinemia type II |
| fr | Tyrosinémie type 2 | Syndrome de Richner-Hanhart · Syndrome de kératose palmoplantaire-dystrophie cornéenne · Tyrosinémie oculocutanée · Tyrosinémie par déficit en TAT · Tyrosinémie par déficit en tyrosine aminotransférase · Tyrosinémie type II |
| de | Tyrosinämie Typ 2 | Tyrosinämie durch TAT-Mangel · Tyrosinämie durch Tyrosintransaminase-Mangel · Okulokutane Tyrosinämie · Palmoplantarkeratose - Hornhautdystrophie · Richner-Hanhart-Syndrom · Tyrosinämie Typ II |
| es | Tirosinemia tipo 2 | Queratosis palmoplantar-distrofia corneal · Síndrome de Richner-Hanhart · Tirosinemia oculocutánea · Tirosinemia por deficiencia de TAT · Tirosinemia por deficiencia de tirosina aminotransferasa · Tirosinemia tipo II |
| it | Tirosinemia, tipo 2 | Cheratosi palmoplantare - distrofia corneale · Sindrome di Richner-Hanhart · Tirosinemia da deficit di TAT · Tirosinemia da deficit di tirosina aminotransferasi · Tirosinemia oculocutanea · Tirosinemia, tipo II |
| nl | Tyrosinemie type 2 | Keratosis palmoplantaris - hoornvliesdystrofie-syndroom · Oculocutane tyrosinemie · Syndroom van Richner-Hanhart · Tyrosinemie als gevolg van TAT-deficiëntie · Tyrosinemie als gevolg van tyrosine aminotransferasedeficiëntie · Tyrosinemie type II |
| pt | Tirosinemia tipo 2 | Tirosinemia por deficiência de TAT · Tirosinemia por deficiência de tirosina aminotransferase · Tirosinemia tipo II · Síndrome Richner-Hanhart · Síndrome de queratose palmo-plantar-distrofia da córnea · Tirosinemia oculo-cutânea |
| pl | Tyrozynemia typu 2 | Rogowiec dłoniowo-podeszwowy - dystrofia rogówki · Tyrozynemia oczno-skórna · Tyrozynemia spowodowana niedoborem aminotransferazy tyrozyny · Tyrozynemia spowodowana niedoborem TAT · Tyrozynemia typu II · Zespół Richnera i Hanharta |
| cs | Tyrosinémie, typ 2 | Syndrom zahrnující keratosis palmoplantaris a korneální dystrofii · Okulokutánní tyrosinémie · Tyrosinémie, typ II · Richnerův-Hanhartův syndrom · Tyrosinémie způsobená deficitem TAT · Tyrosinémie způsobená deficitem tyrosin aminotransferázy · Richner-Hanhartův syndrom |
| uk | Тирозинемія, тип 2 | Синдром кератозу пальмоплантарно-рогівкової дистрофії · Окулярна тирозинемія · Синдром Ріхнера-Ганхарта · Тирозинемія внаслідок дефіциту ТАТ · Тирозинемія внаслідок дефіциту тирозин-амінотрансферази · Тирозинемія II типу |
| zh | 酪氨酸血症II型 | 酪氨酸氨基转移酶缺乏所致酪氨酸血症 |
| tr | Tirozinemi tip 2 | Tirozinemi tip II · Richner-Hanhart sendromu · Okülokütan tirozinemi · TAT eksikliğine bağlı tirozinemi · Keratoz palmoplantaris-korneal distrofi sendromu · Tirozin aminotransferaz eksikliğine bağlı tirozinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276600 | E | validated | |
| ICD-10 | E70.2 | NTBT | inclusion | validated |
| ICD-11 | 5C50.12 | E | specific | validated |
| MONDO | 0010160 | E | validated | |
| UMLS | C0268487 | E | validated | |
| GARD | 3105 | E | validated | |
| MedDRA | 10069463 | 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
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98357Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:284818Disorder of tyrosine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:519288Rare disorder with corneal involvement as a major feature
rare ophthalmic disorders - ORPHA:522558Rare genetic disorder with corneal involvement as a major feature
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TAT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11573 | ENSG00000198650 | 613018 | 16q22.2 | tyrosine aminotransferase | 1357662[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 8912606[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | 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.
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HPO phenotypes
17 annotations · validated 2018-01-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007957 | Corneal opacity | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000982 | Palmoplantar keratoderma | |
| Frequent (79-30%) | ||
| HP:0004337 | Abnormality of amino acid metabolism | |
| HP:0000708 | Atypical behavior | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| Occasional (29-5%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001251 | Ataxia | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001337 | Tremor | |
| HP:0000572 | Visual loss | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/28378
- This record as JSON: /data/d/28378.json