Tyrosinemia type 2

General Information (adopted from Orphanet):

Synonyms, Signs: TYROSINE TRANSAMINASE DEFICIENCY
TAT DEFICIENCY
OREGON TYPE TYROSINEMIA
KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY
TYROSINE AMINOTRANSFERASE DEFICIENCY
TYROSINOSIS, OCULOCUTANEOUS TYPE
Tyrosinemia due to tyrosine aminotransferase deficiency
Oculocutaneous tyrosinemia
richner-hanhart syndrome
Keratosis palmoplantaris - corneal dystrophy
Tyrosinemia type II
Tyrosinemia due to TAT deficiency
Number of Symptoms 48
OrphanetNr: 28378
OMIM Id: 276600
ICD-10: E70.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 150 cases
Inheritance: Autosomal recessive
21145993 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Disorder of tyrosine metabolism
 -Rare genetic disease
Metabolic disease with corneal opacity
 -Rare eye disease
 -Rare genetic disease
Syndromic ichthyosis associated with ocular features
 -Rare eye disease
 -Rare genetic disease

Comment:

All tyrosinemia type II patients responded to restricted diet therapy, and ocular and skin lesions subsided gradually after treatment (PMID:22389994). In Italy a common mutation R57X has been identified (PMID:9544843).

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria Frequent [Orphanet] 16602095 IBIS 65 / 7739
2
 (HPO:0000643) Blepharospasm 22389994 IBIS 20 / 7739
3
 (HPO:0009926) Increased lacrimation 22389994 IBIS 8 / 7739
4
 (HPO:0007957) Corneal opacity Very frequent [Orphanet] hallmark [HPO] 22389994 IBIS 84 / 7739
5
 (HPO:0001131) Corneal dystrophy 22389994 IBIS 56 / 7739
6
 (HPO:0000639) Nystagmus Frequent [Orphanet] 12548382 IBIS 555 / 7739
7
 (HPO:0007759) Opacification of the corneal stroma Very frequent [Orphanet] 22389994 IBIS 77 / 7739
8
 (HPO:0011496) Corneal neovascularization Very frequent [Orphanet] 8912606 IBIS 7 / 7739
9
 (HPO:0000531) Corneal crystals 25119963 IBIS 9 / 7739
10
 (HPO:0000491) Keratitis Very frequent [Orphanet] 23954227 IBIS 21 / 7739
11
 (HPO:0000509) Conjunctivitis Very frequent [Orphanet] 12548382 IBIS 47 / 7739
12
 (HPO:0000505) Visual impairment Occasional [Orphanet] 16684290 IBIS 297 / 7739
13
 (HPO:0000554) Uveitis Very frequent [Orphanet] 22389994 IBIS 10 / 7739
14
 (HPO:0000613) Photophobia Frequent [Orphanet] 25119963 IBIS 158 / 7739
15
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 16602095 IBIS 70 / 7739
16
 (HPO:0007812) Herpetiform corneal ulceration 16602095 IBIS 1 / 7739
17
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 11589874 IBIS 230 / 7739
18
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 16602095 IBIS 853 / 7739
19
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 16309482 IBIS 212 / 7739
20
 (HPO:0002066) Gait ataxia Occasional [Orphanet] occasional [HPO] 16309482 IBIS 327 / 7739
21
 (HPO:0002311) Incoordination Occasional [Orphanet] 21145993 IBIS 84 / 7739
22
 (HPO:0000742) Self-mutilation 16309482 IBIS 27 / 7739
23
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 16309482 IBIS 308 / 7739
24
 (HPO:0001251) Ataxia Occasional [Orphanet] occasional [HPO] 11589874 IBIS 413 / 7739
25
 (HPO:0001270) Motor delay Very frequent [Orphanet] 11589874 IBIS 322 / 7739
26
 (HPO:0001328) Specific learning disability Very frequent [Orphanet] 16309482 IBIS 114 / 7739
27
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 22389994 IBIS 1089 / 7739
28
 (HPO:0001337) Tremor Occasional [Orphanet] 21145993 IBIS 200 / 7739
29
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 16309482 IBIS 55 / 7739
30
 (HPO:0000972) Palmoplantar hyperkeratosis Very frequent [Orphanet] hallmark [HPO] 22389994 IBIS 41 / 7739
31
 (HPO:0001510) Growth delay 16309482 IBIS 295 / 7739
32
 (HPO:0001508) Failure to thrive 16309482 IBIS 454 / 7739
33
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] 16309482 IBIS 115 / 7739
34
 (HPO:0200034) Papule Very frequent [Orphanet] 12548382 IBIS 12 / 7739
35
 (HPO:0000982) Palmoplantar keratoderma Very frequent [Orphanet] 16309482 IBIS 40 / 7739
36
 (HPO:0000975) Hyperhidrosis Frequent [Orphanet] 8912606 IBIS 64 / 7739
37
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 22389994 IBIS 216 / 7739
38
 (HPO:0008066) Abnormal blistering of the skin Frequent [Orphanet] 11589874 IBIS 20 / 7739
39
 (HPO:0000951) Abnormality of the skin 16602095 IBIS 147 / 7739
40
 (HPO:0003231) Hypertyrosinemia 16602095 IBIS 8 / 7739
41
 (HPO:0003607) 4-Hydroxyphenylacetic aciduria 16602095 IBIS 3 / 7739
42
 (HPO:0003161) 4-Hydroxyphenylpyruvic aciduria 16602095 IBIS 4 / 7739
43
 (HPO:0004337) Abnormality of amino acid metabolism Frequent [Orphanet] 16602095 IBIS 45 / 7739
44
 (OMIM) Normal phenylalanine level 16309482 IBIS 1 / 7739
45
 (OMIM) Tyrosine transaminase deficiency 16602095 IBIS 1 / 7739
46
 (OMIM) Soluble tyrosine aminotransferase (TAT) deficiency 16602095 IBIS 1 / 7739
47
 (OMIM) Phenylaceticacidemia 16602095 IBIS 1 / 7739
48
 (OMIM) Painful punctate keratoses of digits, palms, and soles 16602095 IBIS 1 / 7739

Associated genes:

TAT;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).
Diagnosis OMIM - Prenatal Diagnosis

Westphal et al. (1988) described MspI and HaeIII RFLPs associated with the TAT locus. The authors used the 2 polymorphisms, which have a combined polymorphism information content (PIC) of 0.44, to perform haplotype ...
Clinical Description OMIM Richner (1938) and Hanhart (1947) described an oculocutaneous syndrome characterized by herpetiform corneal ulcers and painful punctate keratoses of digits, palms, and soles. Richner (1938) described skin lesions in brother and sister. Only the brother had corneal lesions. ...