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Details
Link-It Detail - Disease - Acidemia, methylmalonic
Debug Stats
  • ### Total Build Time: 34 ms 18.155 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 582 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 2.361 KB
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 13.662 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Acidemia, methylmalonic C0268583
Definition (1)
A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
Relationships (4)

Relation Types:
diso_​to_​diso : 4


Relationships:
isa : 2
use : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOuseimg Acidemia, methylmalonic C0268583
DISO_to_DISOisaimg Adenosylcobalamin and methylcobalamin synthesis defect C0268591
DISO_to_DISOisaimg Adenosylcobalamin synthesis defect C0342720
DISO_to_DISOuseimg Deficiency of methylmalonyl-CoA mutase C0268584
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img OMIM, Score=1000, UMLKSK CUI: C0268583
img GENERIF, Score=1000, Pubmed Id: 17410422, UMLKSK CUI: C0268583
img GENERIF, Score=1000, Pubmed Id: 17957493, UMLKSK CUI: C0268583
img GENERIF, Score=983, Pubmed Id: 17597648, UMLKSK CUI: C0268583
img OMIM, Score=1000, UMLKSK CUI: C0268583
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img OMIM, Score=1000, UMLKSK CUI: C0268583
img OMIM, Score=1000, UMLKSK CUI: C0268583
img GENERIF, Score=1000, Pubmed Id: 15308131, UMLKSK CUI: C0268583
HumanMCEE84693methylmalonyl CoA epimerase
img GENERIF, Score=901, Pubmed Id: 17823972, UMLKSK CUI: C0268583
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
img OMIM, Score=1000, UMLKSK CUI: C0268583
img OMIM, Score=1000, UMLKSK CUI: C0268583
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
img OMIM, Score=1000, UMLKSK CUI: C0268583
img OMIM, Score=1000, UMLKSK CUI: C0268583
HumanMUT4594methylmalonyl CoA mutase
img GENERIF, Score=1000, Pubmed Id: 18940555, UMLKSK CUI: C0268583
img GENERIF, Score=1000, Pubmed Id: 17445044, UMLKSK CUI: C0268583
img GENERIF, Score=1000, Pubmed Id: 17410422, UMLKSK CUI: C0268583
HumanMTRR45525-methyltetrahydrofolate-homocysteine methyltransferase reductase
img OMIM, Score=1000, UMLKSK CUI: C0268583
HumanMTR45485-methyltetrahydrofolate-homocysteine methyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0268583
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268583Acidemia, methylmalonic0self