eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tyrosinemia type 1 | ||||
| Disease ID | 576 |
|---|---|
| Disease | tyrosinemia type 1 |
| Definition | Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. |
| Synonym | defic dis fumarylacetoacetase deficiencies, fumarylacetoacetase deficiency disease, fumarylacetoacetase deficiency diseases, fumarylacetoacetase deficiency of beta-diketonase deficiency of fumarylacetoacetase deficiency of fumarylacetoacetase (disorder) deficiency, fumarylacetoacetase disease, fumarylacetoacetase deficiency diseases, fumarylacetoacetase deficiency fah deficiency fumarylacetoacetase defic dis fumarylacetoacetase deficiencies fumarylacetoacetase deficiency fumarylacetoacetase deficiency (disorder) fumarylacetoacetase deficiency disease fumarylacetoacetase deficiency diseases hepatorenal tyrosinemia hepatorenal tyrosinemias hereditary tyrosinaemia type i hereditary tyrosinemia type i hereditary tyrosinemia, type i hypertyrosinemia, type i hypertyrosinemias, type i type i hypertyrosinemia type i hypertyrosinemias type i tyrosinemia type i tyrosinemias tyrosinaemia type i tyrosinemia type 1s tyrosinemia type i tyrosinemia type i (disorder) tyrosinemia, hepatorenal tyrosinemia, type i tyrosinemias, hepatorenal tyrosinemias, type i tyrsn1 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268490 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 174 | AFP | 2.856 | DISEASES 210 | ALAD | 4.043 | DISEASES 229 | ALDOB | 2.877 | DISEASES 2730 | GCLM | 2.254 | DISEASES 55788 | LMBRD1 | 2.752 | DISEASES 4143 | MAT1A | 2.501 | DISEASES 4359 | MPZ | 1.755 | DISEASES 4540 | MT-ND5 | 1.995 | DISEASES 79661 | NEIL1 | 2.653 | DISEASES 4926 | NUMA1 | 1.621 | DISEASES 5799 | PTPRN2 | 1.942 | DISEASES 6161 | RPL32 | 3.054 | DISEASES 6288 | SAA1 | 1.119 | DISEASES 26278 | SACS | 2.144 | DISEASES 10165 | SLC25A13 | 3.514 | DISEASES 788 | SLC25A20 | 2.476 | DISEASES 6648 | SOD2 | 1.4 | DISEASES 6667 | SP1 | 1.312 | DISEASES 6708 | SPTA1 | 2.583 | DISEASES 6898 | TAT | 3.415 | DISEASES 7019 | TFAM | 1.636 | DISEASES 2547 | XRCC6 | 1.506 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FAH | 15q25.1 |
| Disease ID | 576 |
|---|---|
| Disease | tyrosinemia type 1 |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0001744 | Splenomegaly HP:0001402 | Hepatocellular carcinoma HP:0006463 | Rickets of the lower limbs HP:0002909 | Generalized aminoaciduria HP:0002240 | Hepatomegaly HP:0006554 | Acute hepatic failure |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0000531 | Corneal crystals | 2 HP:0000491 | Corneal inflammation | 1 HP:0030731 | Carcinoma | 1 HP:0001399 | Liver failure | 1 HP:0000613 | Extreme light sensitivity | 1 HP:0001402 | Hepatocellular carcinoma | 1 |
| Disease ID | 576 |
|---|---|
| Disease | tyrosinemia type 1 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:21) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11555096 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80180184 | C | T |
| rs11555096 | 11278491 | 2184 | FAH | umls:C0268490 | UNIPROT | Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. | 0.452757768 | 2001 | FAH | 15 | 80180184 | C | T |
| rs121965073 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80153101 | A | G,T |
| rs121965074 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80162282 | C | A |
| rs121965075 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80181048 | G | T |
| rs121965076 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80181069 | G | T |
| rs121965077 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80181120 | A | G |
| rs121965078 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80173143 | A | G |
| rs370686447 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80168052 | G | A,T |
| rs771712041 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80172148 | G | A,C |
| rs781496816 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80168116 | C | T |
| rs786204551 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80186139 | A | - |
| rs786204683 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80158171 | G | T |
| rs80338894 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80158170 | G | T |
| rs80338895 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80168263 | G | T |
| rs80338896 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80172143 | T | C,G |
| rs80338897 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80172240 | A | T |
| rs80338898 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80173089 | C | T |
| rs80338899 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80173093 | G | A |
| rs80338900 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80180172 | G | A |
| rs80338901 | NA | 2184 | FAH | umls:C0268490 | CLINVAR | NA | 0.452757768 | NA | FAH | 15 | 80180230 | G | A |
GWASdb Annotation(Total Genotypes:15) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 15 | 80450328 | rs1370276 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | NA | NA | chr15,80450001,80460000,chr1,16020001,16030000,8,Hi-C | chr15,80450001,80460000,chr15,82580001,82590000,18,Hi-C | NA | Ceh-22,2.7148 | Mrg2_2302,1.7321 | Pbx1_3203,1.8878 | Pknox2_3077,5.0428 | hoxb3,1.2735 | NA | NA | NA | NA | NA | NA | 0.000 | -0.099 | -0.39 | TF1 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | 5PRIME_UTR | 934 |
| 15 | 80453730 | rs8027913 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | TFP.MYC | NA | chr15,80450001,80460000,chr1,16020001,16030000,8,Hi-C | chr15,80450001,80460000,chr15,82580001,82590000,18,Hi-C | NA | LM140,25.6114 | LM185,1.4729 | LM194,2.2634 | LM199,3.4028 | PPARG-RXRA,1.8938 | NA | NA | NA | NA | NA | NA | 0.000 | -0.454 | -2.19 | GM1 | T | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | UPSTREAM | 934 |
| 15 | 80454745 | rs2114716 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | TFP.FOXA2 | TFP.FOXA1 | TFP.GATA3 | MCV-23 | NA | chr15,80450001,80460000,chr1,16020001,16030000,8,Hi-C | chr15,80450001,80460000,chr15,82580001,82590000,18,Hi-C | NA | Bsx_3483,2.0074 | Dlx1_1741,1.6788 | Dlx2_2273,2.1012 | Dlx3_1030,2.8877 | Gsm1-FL-primary,1.6019 | NA | NA | NA | NA | NA | NA | 0.002 | 0.036 | -0.136 | GE1 | T | NA | NA | NA | NA | NA | NA | NA | NA |
| 15 | 80460524 | rs1545119 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | NA | NA | chr15,80460001,80470000,chr15,82580001,82590000,47,Hi-C | chr15,80460001,80470000,chr9,41910001,41920000,267,Hi-C | chr15,80460001,80470000,chr9,122380001,122390000,8,Hi-C | NA | LM9,4.8956 | LM14,1.8024 | LM20,4.4157 | LM22,1.3111 | LM77,2.8883 | NA | NA | NA | NA | NA | NA | 0.000 | 0.562 | 1.72 | TF2 | G | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | DOWNSTREAM |
| 15 | 80462342 | rs8033974 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | MCV-2 | NA | chr15,80460001,80470000,chr15,82580001,82590000,47,Hi-C | chr15,80460001,80470000,chr9,41910001,41920000,267,Hi-C | chr15,80460001,80470000,chr9,122380001,122390000,8,Hi-C | NA | LM136,10.165 | LM210,1.343 | Ar,3.121 | Ar,76.813 | FOXF2,2.7779 | NA | NA | NA | NA | NA | NA | 0.000 | -0.751 | -2.14 | TF2 | G | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | DOWNSTREAM |
| 15 | 80464669 | rs7180031 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | CHMM | TFP.RXRA | TFP.HNF4A | NA | chr15,80460001,80470000,chr15,82580001,82590000,47,Hi-C | chr15,80460001,80470000,chr9,41910001,41920000,267,Hi-C | chr15,80460001,80470000,chr9,122380001,122390000,8,Hi-C | NA | LM28,2.1589 | LM31,1.5242 | LM58,3.9886 | LM130,4.2665 | LM191,2.674 | NA | NA | NA | NA | NA | NA | 0.000 | -1.123 | -4.64 | TF2 | A | NA | NA | NA | NA | NA | NA | NA | NA |
| 15 | 80465920 | rs3752692 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | TFP.CTCF | TFP.MYC | TFP.RAD21 | TFP.ZNF263 | TFP.SMC3 | TFP.STAT3 | TFP.CEBPB | MCV-113 | NA | chr15,80460001,80470000,chr15,82580001,82590000,47,Hi-C | chr15,80460001,80470000,chr9,41910001,41920000,267,Hi-C | chr15,80460001,80470000,chr9,122380001,122390000,8,Hi-C | NA | Cep3-primary,11.4132 | Ecm22-primary,1.6751 | Gat3-primary,1.4147 | Hal9-primary,1.597 | Hal9-primary,1.5207 | NA | NA | NA | NA | NA | NA | 0.001 | 0.015 | -0.132 | C0 | A | NA | NA | NA |
| 15 | 80469025 | rs8043254 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | MCV-8 | NA | chr15,80460001,80470000,chr15,82580001,82590000,47,Hi-C | chr15,80460001,80470000,chr9,41910001,41920000,267,Hi-C | chr15,80460001,80470000,chr9,122380001,122390000,8,Hi-C | NA | Sox17,1.4893 | TCCCRNNRTGC,11.8778 | SYATTGTG,3.2141 | YGTCCTTGR,2.1613 | YTCCCRNNAGGY,2.337 | NA | NA | NA | NA | NA | NA | 0.000 | -0.272 | -0.988 | TF1 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC |
| 15 | 80470834 | rs2866592 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | MCV-1 | NA | NA | NA | LM30,1.8904 | LM56,6.6097 | LM159,1.9513 | LM188,2.5959 | LM200,1.4344 | NA | NA | NA | NA | NA | NA | 0.002 | -0.293 | -1.13 | L0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 934 | 4.96 |
| 15 | 80471491 | rs2866593 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | CHMM | TFP.FOS | TFP.JUND | TFP.JUN | NA | NA | NA | Cgd2_3490,1.8412 | Irx2_0900,1.9284 | Irx3_2226,1.2718 | Irx4_2242,1.6483 | Irx5_2385,1.586 | NA | NA | NA | NA | NA | NA | 0.000 | -1.271 | -4.73 | TF1 | G | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature |
| 15 | 80472243 | rs2043692 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | MCV-1 | NA | NA | NA | Rpn4-primary,1.9007 | Sut2-primary,12.3736 | Ykl222c-DBD-primary,1.3977 | LM102,1.3114 | LM227,5.2487 | NA | NA | NA | NA | NA | NA | 0.002 | 0.767 | 1.94 | TF2 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 934 | 27.60 |
| 15 | 80476575 | rs12594576 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | TFP.CTCF | TFP.RAD21 | NA | NA | NA | LM54,2.0461 | LM110,3.7918 | LM161,1.44 | LM165,2.5206 | LM229,2.8969 | NA | NA | NA | NA | NA | NA | 0.000 | -0.401 | -1.42 | GE1 | G | NA | NA | NA | NA | NA | NA | NA | NA | RegulatoryFeature | REGULATORY | 934 |
| 15 | 80476793 | rs7177977 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | TFP.CTCF | NA | NA | NA | LM12,1.6672 | LM197,9.5307 | LM225,4.8166 | usp,2.1071 | PPARG-RXRA,2.0341 | NA | NA | NA | NA | NA | NA | 0.000 | -1.216 | -3.54 | TF1 | G | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 934 | 3.20 |
| 15 | 80477571 | rs8039712 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | NA | NA | NA | NA | Dlx3_1030,1.5513 | Dlx4_3488,1.4797 | Gcn4-DBD-primary,1.4108 | Hlxb9_3422,3.5665 | Hoxa7_2668,2.2555 | NA | NA | NA | NA | NA | NA | 0.000 | -0.569 | -1.99 | GE0 | A | NA | NA | NA | 0.080 | 0.100 | 0.070 | 0.090 | 0.060 | Transcript | INTRONIC | 934 | 2.00 |
| 15 | 80478645 | rs1049194 | NM_000137,FAH | ENST00000407106,ENSG00000103876 | ENST00000261755,ENSG00000103876 | NA | NA | NA | NA | LM2,8.5588 | LM7,1.4663 | LM23,2.811 | LM54,1.4386 | LM130,15.3639 | hsa-miR-1238-5p,-0.158000 | hsa-miR-4481,-0.113000 | hsa-miR-4745-5p,-0.113000 | hsa-miR-4758-5p,-0.130000 | NA | NA | NA | NA | NA | 0.000 | -0.086 | -0.631 | TF2 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006554 | Acute hepatic failure | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001402 | Hepatocellular carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0006463 | Rickets of the lower limbs | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002909 | Generalized aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006554 | Acute hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006463 | Rickets of the lower limbs | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001402 | Hepatocellular carcinoma | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 576 |
|---|---|
| Disease | tyrosinemia type 1 |
| Case | (Waiting for update.) |