loading...| Preferred Name |
Hyperlysinemias |
|
| Synonyms |
With Hyperammonemias, Hyperlysinuria |
|
| Definitions |
A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020167 |
|
| altLabel |
With Hyperammonemias, Hyperlysinuria L-Lysine:NAD-Oxido-Reductase Deficiencies L Lysine:NAD Oxido Reductase Deficiency Deficiency, Lysine:Alpha-Ketoglutarate Reductase Hyperlysinuria With Hyperammonemias Deficiencies, L-Lysine:NAD-Oxido-Reductase Deficiencies, Lysine:Alpha-Ketoglutarate Reductase Saccharopine Dehydrogenase Deficiency Disease Alpha Aminoadipic Semialdehyde Deficiency Disease Hyperammonemia, Hyperlysinuria With With Hyperammonemia, Hyperlysinuria Hyperlysinemia Hyperlysinemias, Periodic Hyperlysinemia, Familial Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Lysine:Alpha Ketoglutarate Reductase Deficiency Deficiency Disease, Lysine Alpha Ketoglutarate Reductase Deficiency Disease, Alpha-Aminoadipic Semialdehyde Periodic Hyperlysinemia Deficiency, L-Lysine:NAD-Oxido-Reductase Alpha-Aminoadipic Semialdehyde Deficiency Disease Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase Deficiency Disease, Saccharopine Dehydrogenase Hyperlysinuria With Hyperammonemia Reductase Deficiency, Lysine:Alpha-Ketoglutarate Deficiency Disease, Alpha Aminoadipic Semialdehyde Lysine:Alpha-Ketoglutarate Reductase Deficiency Hyperammonemias, Hyperlysinuria With Hyperlysinemias, Familial Familial Hyperlysinemia L-Lysine:NAD-Oxido-Reductase Deficiency Reductase Deficiencies, Lysine:Alpha-Ketoglutarate Lysine:Alpha-Ketoglutarate Reductase Deficiencies Lysine Alpha Ketoglutarate Reductase Deficiency Disease Hyperlysinemia, Periodic Periodic Hyperlysinemias Familial Hyperlysinemias |
|
| 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 |
C0268553 C0936256 C0268556 C1527317 C0268555 |
|
| DC |
1 |
|
| definition |
A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56) |
|
| DX |
20000101 |
|
| FX |
D012443 |
|
| 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 |
http://purl.bioontology.org/ontology/MESH/C563201 |
|
| MDA |
19991103 |
|
| MMR |
20130708 |
|
| MN |
C18.452.648.189.380 C16.320.565.189.380 C16.320.565.100.544 C10.228.140.163.100.380 C18.452.648.100.544 C18.452.132.100.380 |
|
| notation |
D020167 |
|
| prefLabel |
Hyperlysinemias |
|
| TERMUI |
T368508 T812238 T812237 T368504 T368503 T368506 T368505 T368502 T368501 T812235 T841693 T839570 T368507 T358333 |
|
| TH |
OMIM (2013) NLM (2000) GHR (2014) |
|
| tui |
T047 |
|
| subClassOf |