eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tyrosine transaminase deficiency | ||||
| Disease ID | 1137 |
|---|---|
| Disease | tyrosine transaminase deficiency |
| Definition | Tyrosinemia caused by mutation(s) in the TAT gene, encoding tyrosine aminotransferase. The inheritance is autosomal recessive. |
| Synonym | 2 tyrosinemias, type defic dis tyrosine transaminase deficiencies, tat deficiency disease, tyrosine transaminase deficiency of tyrosine aminotransferase deficiency of tyrosine aminotransferase (disorder) deficiency, tat hereditary hypertyrosinaemia, type ii hereditary hypertyrosinemia, type ii hereditary tyrosinemia, type ii hypertyrosinaemia, oregon type hypertyrosinaemia, richner-hanhart type hypertyrosinemia, oregon type hypertyrosinemia, richner-hanhart type hypertyrosinemia, richner-hanhart type (disorder) keratosis palmoplantaris with corneal dystrophy oculocutaneous type tyrosinoses oculocutaneous type tyrosinosis oculocutaneous tyrosinaemia oculocutaneous tyrosinemia oregon type tyrosinemia persistent hypertyrosinaemia persistent hypertyrosinemia richner hanhart syndrome richner syndrome richner-hanhart syndrome richner-hanhart syndrome, tyrosinosis, oculocutaneous type richner-hanhart syndromes syndrome, richner-hanhart syndromes, richner-hanhart tat deficiencies tat deficiency type 2 tyrosinemia type 2 tyrosinemias type ii tyrosinemia type ii tyrosinemias type tyrosinoses, oculocutaneous type tyrosinosis, oculocutaneous tyrosinaemia type 2 tyrosinaemia type ii tyrosinaemia without hepatorenal dysfunction tyrosinaemia, type ii tyrosine aminotransferase deficiency tyrosine transaminase defic dis tyrosine transaminase deficiency disease tyrosinemia type 2 tyrosinemia type ii tyrosinemia without hepatorenal dysfunction tyrosinemia, type 2 tyrosinemia, type ii tyrosinemias, type 2 tyrosinemias, type ii tyrosinoses, oculocutaneous type tyrosinosis, oculocutaneous type tyrsn2 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268487 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 4166 | CHST6 | 3.196 | DISEASES 2934 | GSN | 1.809 | DISEASES 3052 | HCCS | 1.729 | DISEASES 3850 | KRT3 | 3.017 | DISEASES 51360 | MBTPS2 | 2.948 | DISEASES 6303 | SAT1 | 2.491 | DISEASES 4070 | TACSTD2 | 2.452 | DISEASES 6898 | TAT | 7.54 | DISEASES 7045 | TGFBI | 2.075 | DISEASES 162514 | TRPV3 | 3.128 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1137 |
|---|---|
| Disease | tyrosine transaminase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0003161 | 4-Hydroxyphenylpyruvic aciduria HP:0007812 | Herpetiform corneal ulcers HP:0000951 | dermatopathy HP:0001510 | Growth deficiency HP:0003231 | Increased tyrosine in blood HP:0001249 | Mental retardation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1137 |
|---|---|
| Disease | tyrosine transaminase deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203914 | NA | 6898 | TAT | umls:C0268487 | CLINVAR | NA | 0.362985861 | NA | TAT | 16 | 71576247 | G | A |
| rs28934277 | 1357662 | 6898 | TAT | umls:C0268487 | UNIPROT | Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. | 0.362985861 | 1992 | NA | NA | NA | NA | NA |
| rs587776512 | NA | 6898 | TAT | umls:C0268487 | CLINVAR | NA | 0.362985861 | NA | TAT | 16 | 71576031 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000951 | Abnormality of the skin | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003231 | Hypertyrosinemia | MP:0013724 | decreased circulating tyrosine level | the amount of the amino acid histidine in the blood is less than expected |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003161 | 4-Hydroxyphenylpyruvic aciduria | MP:0013724 | decreased circulating tyrosine level | the amount of the amino acid histidine in the blood is less than expected |
| HP:0000951 | Abnormality of the skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1137 |
|---|---|
| Disease | tyrosine transaminase deficiency |
| Case | (Waiting for update.) |