loading...| Preferred Name |
Hyperlysinemias |
| Synonyms |
Hyperlysinuria With Hyperammonemias |
| 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 |
Hyperlysinuria With Hyperammonemias Hyperlysinemia Alpha-Aminoadipic Semialdehyde Deficiency Disease Familial Hyperlysinemias Deficiency, Lysine:Alpha-Ketoglutarate Reductase Reductase Deficiency, Lysine:Alpha-Ketoglutarate Reductase Deficiencies, Lysine:Alpha-Ketoglutarate Hyperlysinuria With Hyperammonemia L-Lysine:NAD-Oxido-Reductase Deficiencies Deficiency Disease, Lysine Alpha Ketoglutarate Reductase Hyperlysinemias, Familial Lysine:Alpha-Ketoglutarate Reductase Deficiency Lysine:Alpha-Ketoglutarate Reductase Deficiencies Deficiency, L-Lysine:NAD-Oxido-Reductase Hyperammonemias, Hyperlysinuria With Hyperammonemia, Hyperlysinuria With Deficiency Disease, Alpha-Aminoadipic Semialdehyde Lysine:Alpha Ketoglutarate Reductase Deficiency Alpha Aminoadipic Semialdehyde Deficiency Disease L-Lysine:NAD-Oxido-Reductase Deficiency Saccharopine Dehydrogenase Deficiency Disease Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase L Lysine:NAD Oxido Reductase Deficiency Hyperlysinemias, Periodic Periodic Hyperlysinemias Deficiency Disease, Saccharopine Dehydrogenase Hyperlysinemia, Familial Deficiency Disease, Alpha Aminoadipic Semialdehyde With Hyperammonemia, Hyperlysinuria Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Periodic Hyperlysinemia Hyperlysinemia, Periodic Deficiencies, L-Lysine:NAD-Oxido-Reductase Familial Hyperlysinemia With Hyperammonemias, Hyperlysinuria Lysine Alpha Ketoglutarate Reductase Deficiency Disease Deficiencies, Lysine:Alpha-Ketoglutarate Reductase |
| 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 |
C0268555 C0268556 C0936256 C0268553 C1527317 |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D056732 http://purl.bioontology.org/ontology/MESH/D007706 http://purl.bioontology.org/ontology/MESH/D020176 http://purl.bioontology.org/ontology/MESH/D020279 http://purl.bioontology.org/ontology/MESH/D015324 http://purl.bioontology.org/ontology/MESH/D056693 http://purl.bioontology.org/ontology/MESH/D000417 http://purl.bioontology.org/ontology/MESH/D020158 http://purl.bioontology.org/ontology/MESH/D000326 http://purl.bioontology.org/ontology/MESH/D056806 http://purl.bioontology.org/ontology/MESH/D010661 http://purl.bioontology.org/ontology/MESH/D009800 http://purl.bioontology.org/ontology/MESH/D054078 http://purl.bioontology.org/ontology/MESH/D054069 http://purl.bioontology.org/ontology/MESH/D017243 http://purl.bioontology.org/ontology/MESH/D052919 http://purl.bioontology.org/ontology/MESH/D006527 http://purl.bioontology.org/ontology/MESH/D020138 http://purl.bioontology.org/ontology/MESH/D017241 http://purl.bioontology.org/ontology/MESH/D015211 http://purl.bioontology.org/ontology/MESH/D006712 http://purl.bioontology.org/ontology/MESH/D007888 http://purl.bioontology.org/ontology/MESH/D009100 http://purl.bioontology.org/ontology/MESH/D028243 http://purl.bioontology.org/ontology/MESH/D015325 http://purl.bioontology.org/ontology/MESH/D007926 http://purl.bioontology.org/ontology/MESH/D012035 http://purl.bioontology.org/ontology/MESH/D006250 http://purl.bioontology.org/ontology/MESH/D000474 http://purl.bioontology.org/ontology/MESH/D005693 |
| Machine permutation |
2000 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C565499 |
| MDA |
19991103 |
| MMR |
20130708 |
| MN |
C18.452.132.100.380 C16.320.565.189.380 C18.452.648.189.380 C16.320.565.100.544 C18.452.648.100.544 C10.228.140.163.100.380 |
| notation |
D020167 |
| prefLabel |
Hyperlysinemias |
| TERMUI |
T368506 T368504 T841693 T368501 T812238 T368505 T358333 T812235 T368503 T839570 T368507 T368508 T368502 T812237 |
| TH |
NLM (2000) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |