loading...| Preferred Name |
Tyrosinemias |
|
| Synonyms |
Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate |
|
| Definitions |
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020176 |
|
| altLabel |
Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate Hypertyrosinemia Tyrosinemias, Hepatorenal Tyrosinemias, Hereditary Type I Hypertyrosinemia Tyrosinemia Type 1s Tyrosinemia, Type III Type 2 Tyrosinemia Tyrosinemias, Type 2 Tyrosinemia Type 1 Tyrosinemia, Type 2 Fumarylacetoacetase Deficiency Tyrosinoses, Oculocutaneous Type Tat Deficiency 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease Tyrosinosis, Oculocutaneous Type 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Fumarylacetoacetase Deficiencies Type III Tyrosinemias Deficiency, Tat Syndrome, Richner-Hanhart Hypertyrosinemias, Type I Diseases, Fumarylacetoacetase Deficiency Richner-Hanhart Syndrome Tyrosinemias, Type II Hereditary Tyrosinemia, Type II Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase Deficiency, Fumarylacetoacetase Tyrosine Aminotransferase Deficiency Deficiencies, Fumarylacetoacetase Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase Hypertyrosinemia, Type I Type 2 Tyrosinemias Oregon Type Tyrosinemia Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate Type Tyrosinosis, Oculocutaneous Tyrosine Transaminase Deficiency Fumarylacetoacetase Deficiency Disease Hereditary Tyrosinemia, Type I Oculocutaneous Type Tyrosinosis Deficiency Diseases, Fumarylacetoacetase Type I Tyrosinemia Tyrosinemia, Type I Tat Deficiencies Hepatorenal Tyrosinemias Deficiency Disease, Fumarylacetoacetase Tyrosine Transaminase Deficiency Disease 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease Hereditary Tyrosinemias Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type Type III Tyrosinemia 4-Hydroxyphenylpyruvate Dioxygenase Deficiency Disease, Fumarylacetoacetase Deficiency Keratosis Palmoplantaris with Corneal Dystrophy Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease Richner-Hanhart Syndromes Deficiency Disease, Tyrosine Transaminase Tyrosinemia, Type II Tyrosinemia, Hepatorenal Tyrosinemia Richner Hanhart Syndrome Hereditary Tyrosinemia, Type III Hepatorenal Tyrosinemia Type Tyrosinoses, Oculocutaneous Deficiencies, Tat Hereditary Tyrosinemia Tyrosinemia, Hereditary Type II Tyrosinemias Tyrosinemias, Type III Oculocutaneous Type Tyrosinoses Syndromes, Richner-Hanhart Type II Tyrosinemia 2 Tyrosinemias, Type Fumarylacetoacetase Deficiency Diseases Type I Hypertyrosinemias Tyrosinemias, Type I Type I Tyrosinemias Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase |
|
| AN |
note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0268486 C0268623 C0268487 C0268490 |
|
| DC |
1 |
|
| definition |
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) |
|
| DX |
20000101 |
|
| HN |
2000 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2000 |
|
| Mapped from | ||
| MDA |
19991104 |
|
| MMR |
20160628 |
|
| MN |
C10.228.140.163.100.875 C18.452.132.100.875 C16.320.565.189.875 C18.452.648.189.875 C18.452.648.100.880 C16.320.565.100.880 |
|
| notation |
D020176 |
|
| prefLabel |
Tyrosinemias |
|
| TERMUI |
T781172 T812226 T370826 T370832 T370838 T824030 T812225 T824034 T370830 T824033 T812231 T824031 T370837 T842632 T824032 T812243 T842631 T842630 T370827 T781171 T370825 T370833 T370836 T370829 T370831 T812244 T370839 T824029 T781170 T370828 T370834 T358654 T370835 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) NLM (2013) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |