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Details
Link-It Detail - Disease - Hyperlysinemias
Debug Stats
  • ### Total Build Time: 64 ms 17.866 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 578 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=15 ms Completed: 15 ms rowSize= 1,023 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.802 KB
  • CONCEPT_RELATIONSHIPS gt=30 ms Completed: 30 ms rowSize= 6.479 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 1.333 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperlysinemias C0268553
Definition (1)
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)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Brain Diseases, Metabolic, Inborn C0752109
img Amino Acid Metabolism, Inborn Errors C0002514
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Metabolism, Inborn Errors C0002514
Relationships (13)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 4
diso_​to_​diso : 7
diso_​to_​phys : 1


Relationships:
none : 7
alias_​of : 2
isa : 2
mapped_​to : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT1img Cerebral Cortex C0007776
DISO_to_CHEM1img Acids, Pipecolic C0031952
DISO_to_CHEM1img Creatine Kinase C0010287
DISO_to_CHEM1img Lysine C0024337
DISO_to_CHEM1img MAGNESIUM (AS SULFATE) C0024480
DISO_to_DISO1img Seizures C0036572
DISO_to_PHYS1img Energy Metabolism C0014272
DISO_to_DISOused_forimg AA METAB DIS INBORN C0002514
DISO_to_DISOisaimg HYPERLYSINEMIA, PERIODIC C0268555
DISO_to_DISOalias_ofimg Hyperlysinemias C0268553
DISO_to_DISOalias_ofimg Lysine intolerance C1282843
DISO_to_DISOisaimg Persistent hyperlysinaemia C0268554
DISO_to_DISOmapped_toimg Saccharopine dehydrogenase deficiency C2936921
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanAASS10157aminoadipate-semialdehyde synthase
img OMIM, Score=1000, UMLKSK CUI: C0268553
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268553Hyperlysinemias0self