PedAM

Pediatric Disease Annotations & Medicines


	tyrosinemia

Disease ID	347
Disease	tyrosinemia
Definition	group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency.
Synonym	hereditary tyrosinemia hereditary tyrosinemias hypertyrosinemia tyrosinaemia tyrosinemia (disorder) tyrosinemia, hereditary tyrosinemias tyrosinemias [disease/finding] tyrosinemias, hereditary
DOID	DOID:9275
ICD10	ICD10CM:E70.21
UMLS	C0268483
MeSH	D020176
SNOMED-CT	SNOMEDCT_US_2016_09_01:190694001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0023890 \| liver cirrhosis \| 1 C0035579 \| rickets \| 1 C0878544 \| cardiomyopathy \| 1 C0023895 \| liver disease \| 1 C0023890 \| cirrhosis \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0022568 \| keratitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) FAH \| 2184 \| CTD_human;GHR HPD \| 3242 \| CTD_human;GHR TAT \| 6898 \| CTD_human;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:72) 6820 \| SULT2B1 \| DISEASES 2954 \| GSTZ1 \| DISEASES 8106 \| PABPN1 \| DISEASES 191 \| AHCY \| DISEASES 412 \| STS \| DISEASES 4913 \| NTHL1 \| DISEASES 4350 \| MPG \| DISEASES 7036 \| TFR2 \| DISEASES 2584 \| GALK1 \| DISEASES 1594 \| CYP27B1 \| DISEASES 33 \| ACADL \| DISEASES 7374 \| UNG \| DISEASES 35 \| ACADS \| DISEASES 3859 \| KRT12 \| DISEASES 4836 \| NMT1 \| DISEASES 2184 \| FAH \| DISEASES 23531 \| MMD \| DISEASES 7299 \| TYR \| DISEASES 3931 \| LCAT \| DISEASES 1716 \| DGUOK \| DISEASES 8626 \| TP63 \| DISEASES 2495 \| FTH1 \| DISEASES 3081 \| HGD \| DISEASES 252969 \| NEIL2 \| DISEASES 3242 \| HPD \| DISEASES 2019 \| EN1 \| DISEASES 5092 \| PCBD1 \| DISEASES 189 \| AGXT \| DISEASES 3171 \| FOXA3 \| DISEASES 54658 \| UGT1A1 \| DISEASES 1296 \| COL8A2 \| DISEASES 686 \| BTD \| DISEASES 51029 \| DESI2 \| DISEASES 57521 \| RPTOR \| DISEASES 54205 \| CYCS \| DISEASES 5376 \| PMP22 \| DISEASES 6169 \| RPL38 \| DISEASES 80025 \| PANK2 \| DISEASES 788 \| SLC25A20 \| DISEASES 4166 \| CHST6 \| DISEASES 79661 \| NEIL1 \| DISEASES 26503 \| SLC17A5 \| DISEASES 6898 \| TAT \| DISEASES 37 \| ACADVL \| DISEASES 4540 \| MT-ND5 \| DISEASES 6646 \| SOAT1 \| DISEASES 6708 \| SPTA1 \| DISEASES 2730 \| GCLM \| DISEASES 55788 \| LMBRD1 \| DISEASES 4070 \| TACSTD2 \| DISEASES 4143 \| MAT1A \| DISEASES 3155 \| HMGCL \| DISEASES 229 \| ALDOB \| DISEASES 29914 \| UBIAD1 \| DISEASES 285440 \| CYP4V2 \| DISEASES 2592 \| GALT \| DISEASES 6303 \| SAT1 \| DISEASES 51360 \| MBTPS2 \| DISEASES 26278 \| SACS \| DISEASES 5799 \| PTPRN2 \| DISEASES 4926 \| NUMA1 \| DISEASES 174 \| AFP \| DISEASES 6161 \| RPL32 \| DISEASES 825 \| CAPN3 \| DISEASES 210 \| ALAD \| DISEASES 10165 \| SLC25A13 \| DISEASES 3850 \| KRT3 \| DISEASES 7045 \| TGFBI \| DISEASES 7019 \| TFAM \| DISEASES 4359 \| MPZ \| DISEASES 162514 \| TRPV3 \| DISEASES 79104 \| MEG8 \| DISEASES
Locus	(Waiting for update.)

Disease ID	347
Disease	tyrosinemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0000531 \| Corneal crystals \| 2 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0002748 \| Rickets \| 1 HP:0001399 \| Liver failure \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0030731 \| Carcinoma \| 1 HP:0000491 \| Corneal inflammation \| 1 HP:0001638 \| Cardiomyopathy \| 1

Disease ID	347
Disease	tyrosinemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C2364050 \| hypothermia C2203646 \| jaundice C1837530 \| atic deficiency C1623038 \| cirrhosis C0235270 \| keratopathy C0151747 \| renal tubular dysfunction C0022658 \| nephropathy C0001339 \| acute pancreatitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0023890 \| cirrhosis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121965078	11476670	2184	FAH	umls:C0268483	BeFree	A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.	0.133049073	2001	FAH	15	80173143	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0268483	carbamazepine	D002220	298-46-4	tyrosinemias	MESH:D020176	marker/mechanism	3313115
C0268483	nitisinone	C077073	104206-65-7	tyrosinemias	MESH:D020176	therapeutic	11488774

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics