MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expand
inborn errors of metabolism (MONDO:0019052)
..Starting node
..expand
inherited lipid metabolism disorder ()

       Child Nodes:
........expand46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ()
........expand46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ()
........expandcortisone reductase deficiency ()
........expanddisorder of lipid absorption and transport ()
........expanddisorder of phospholipids, sphingolipids and fatty acids biosynthesis ()
........expanddisorder of plasmalogens biosynthesis ()
........expanddisorder of sphingolipid biosynthesis ()
........expandfamilial hyperlipidemia ()
........expandglycosylphosphatidylinositol biosynthesis defect 16 ()
........expandglycosylphosphatidylinositol biosynthesis defect 17 ()
........expandglycosylphosphatidylinositol biosynthesis defect 18 ()
........expandhypolipoproteinemia (disease) ()
........expandinborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation ()
........expandinherited fatty acid metabolism disorder ()
........expandlipoid proteinosis ()
........expandlysosomal lipid storage disorder ()
........expandsteroid inherited metabolic disorder ()
........expandsterol metabolism disorder ()
........expandsyndromic dyslipidemia ()



 Sister Nodes: 
..expandabdominal obesity-metabolic syndrome 3 ()
..expandalcohol sensitivity, acute ()  LSDB  L: 00081;
..expandAlstrom syndrome ()
..expandapolipoprotein c-III deficiency ()
..expandAREDYLD syndrome ()
..expandaromatase excess syndrome ()
..expandautosomal dominant hypocalcemia ()
..expandautosomal recessive infantile hypercalcemia ()
..expandBloom syndrome ()
..expandCockayne syndrome ()
..expanddiabetes mellitus, noninsulin-dependent, 1 ()
..expanddiabetes mellitus, noninsulin-dependent, 3 ()
..expanddiabetes mellitus, noninsulin-dependent, 4 ()
..expanddiabetes mellitus, noninsulin-dependent, 5 ()
..expanddiabetic ketoacidosis ()
..expanddisorder of lysosomal-related organelles ()
..expanddisorder of metabolite absorption and transport ()
..expandDonohue syndrome ()
..expandfamilial calcium pyrophosphate deposition ()
..expandfamilial hyperinsulinism ()
..expandfamilial hypocalciuric hypercalcemia ()
..expandfamilial intrahepatic cholestasis ()
..expandfamilial tumoral calcinosis ()
..expandferro-cerebro-cutaneous syndrome ()
..expandgluthathione peroxidase deficiency ()
..expandH syndrome ()
..expandhereditary amyloidosis ()
..expandhereditary chronic pancreatitis ()
..expandhereditary thrombophilia due to congenital protein C deficiency ()
..expandhypophosphatasia ()
..expandimmunodeficiency-centromeric instability-facial anomalies syndrome ()
..expandimmunoglobulin-mediated membranoproliferative glomerulonephritis ()
..expandinborn disorder of amino acid and other organic acid metabolism ()
..expandinborn disorder of porphyrin metabolism ()
..expandinborn metal metabolism disorder ()
..expandinborn vitamin metabolic disorder ()
..expandinherited lipid metabolism disorder ()
..expandinsulin-resistance syndrome type A ()
..expandjuvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ()
..expandlysosomal storage disease ()
..expandmannose-binding lectin deficiency ()
..expandmetabolic syndrome X ()
..expandmicrocephalic primordial dwarfism-insulin resistance syndrome ()
..expandneonatal diabetes mellitus with congenital hypothyroidism ()
..expandNIDDM2 ()
..expandNijmegen breakage syndrome ()
..expandNijmegen breakage syndrome-like disorder ()
..expandnucleoside diphosphate-linked moiety X Motif 15 deficiency ()
..expandpermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ()
..expandperoxisomal disease ()
..expandphotosensitive trichothiodystrophy ()
..expandplasma protein metabolism disease ()
..expandpolyendocrine-polyneuropathy syndrome ()
..expandpolysyndactyly ()
..expandprimary microcephaly-epilepsy-permanent neonatal diabetes syndrome ()
..expandprimary microcephaly-mild intellectual disability-young-onset diabetes syndrome ()
..expandproximal renal tubular acidosis ()
..expandRabson-Mendenhall syndrome ()
..expandrecurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ()
..expandrenal tubular acidosis 3 ()
..expandrenal tubular acidosis, distal, autosomal recessive ()
..expandsevere combined immunodeficiency due to DCLRE1C deficiency ()
..expandthiopurine S-methyltransferase deficiency ()
..expandUV-sensitive syndrome ()
..expandWaldenstrom macroglobulinemia ()
..expandWolcott-Rallison syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2525
Name:inherited lipid metabolism disorder
Definition:An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:disorder of lipid metabolism; dyslipidemia; fatty acid metabolism disorder; lipid metabolism disorder
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Phenotypes
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