Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAmino Acid Metabolism, Inborn Errors (D000592)
Parent Node:
expandCarbohydrate Metabolism, Inborn Errors (D002239)
..Starting node
..expandMultiple Carboxylase Deficiency (D009100)

       Child Nodes:
........expandBiotinidase Deficiency (D028921) Child1
........expandHolocarboxylase Synthetase Deficiency (D028922)
........expandMultiple Carboxylase Deficiency, Juvenile-Onset (C565365)



 Sister Nodes: 
..expandChondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome (C565852)
..expandCongenital Disorders of Glycosylation (D018981) Child31
..expandD-glycericacidemia (C535767)
..expandDe Vivo disease (C536830)
..expandFructose and Galactose Intolerance (C565558)
..expandFructose Metabolism, Inborn Errors (D015318) Child4
..expandFucosidosis (D005645)
..expandGalactosemias (D005693)
..expandGlucose-Galactose Malabsorption (C562602)
..expandGlucosephosphate Dehydrogenase Deficiency (D005955) Child3
..expandGlycogen Storage Disease (D006008) Child42
..expandHyperglycerolemia (C538138)
..expandHyperoxaluria, Primary (D006960) Child3
..expandHyperproglucagonemia (C564159)
..expandLactase Deficiency, Congenital (C562600)
..expandLactate Dehydrogenase Deficiency (C580233)
..expandLactose Intolerance (D007787) Child1
..expandMannosidase Deficiency Diseases (D044904) Child6
..expandMucolipidoses (D009081) Child11
..expandMucopolysaccharidoses (D009083) Child10
..expandMultiple Carboxylase Deficiency (D009100) Child4
..expandMyopathy with Storage of Glycoproteins and Glycosaminoglycans (C563542)
..expandPentosuria (C536652)
..expandPhosphoenolpyruvate carboxykinase deficiency (C536654)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPolysaccharide, Storage of Unusual (C564877)
..expandPyruvate Metabolism, Inborn Errors (D015323) Child20
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandSucrase-isomaltase deficiency, congenital (C538139)
..expandTransaldolase Deficiency (C563207)
..expandTrehalase Deficiency (C562603)
..expandTriosephosphate Isomerase Deficiency (C566029)
..expandXylosidase Deficiency (C564730)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7453
Name:Multiple Carboxylase Deficiency
Definition:A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Alternative IDs:
ParentIDs:MESH:D000592|MESH:D002239
TreeNumbers:C16.320.565.100.620 |C16.320.565.202.720 |C18.452.648.100.620 |C18.452.648.202.720
Synonyms:Carboxylase Deficiencies, Combined |Carboxylase Deficiencies, Multiple |Carboxylase Deficiency, Combined |Carboxylase Deficiency, Multiple |Combined Carboxylase Deficiencies |Combined Carboxylase Deficiency |Deficiencies, Combined Carboxylase |Deficiencies, Mul
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D009100
MeSH: D009100
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants