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Details
Link-It Detail - Disease - Barth Syndrome
Debug Stats
  • ### Total Build Time: 27 ms 24.552 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 390 bytes
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Disease (2)
Barth Syndrome C0574083
3-Methylglutaconic aciduria type 2
Definition (1)
Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Heart Defects, Congenital C0018798
img Genetic Diseases, X-Linked C1138434
img Abnormalities, Multiple C0000772
img Lipid Metabolism, Inborn Errors C0023772
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Heart Defects, Congenital C0018798
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430504img Heart Defects, Congenital C0018798
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Heart Defects, Congenital C0018798
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lipid Metabolism, Inborn Errors C0023772
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lipid Metabolism, Inborn Errors C0023772
Relationships (18)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 16
diso_​to_​phen : 1


Relationships:
none : 2
inheritance_​type_​of : 1
manifestation_​of : 13
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM5img TRANSCRIPTION FACTOR C0040648
DISO_to_DISOpermuted_term_ofimg 3-Methylglutaconic aciduria type 2 C0574083
DISO_to_DISOmanifestation_ofimg Agranulocytosis C0001824
DISO_to_DISOmanifestation_ofimg Cardiomyopathy, Dilated C0007193
DISO_to_DISOmanifestation_ofimg Caused by mutations in the tafazzin gene (TAZ, 300394.0001) C1844916
DISO_to_DISOmanifestation_ofimg Congestive heart failure C0018802
DISO_to_DISOmapped_toimg Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria C2931864
DISO_to_DISOmanifestation_ofimg Elevated urinary 2-ethylhydracrylate C1844914
DISO_to_DISOmanifestation_ofimg Elevated urinary 3-methylglutaconate C1844912
DISO_to_DISOmanifestation_ofimg Elevated urinary 3-methylglutarate C1844913
DISO_to_DISOmanifestation_ofimg Endomyocardial fibroelastosis on light microscopy C1844911
DISO_to_DISOmanifestation_ofimg Growth retardation C0151686
DISO_to_DISOmanifestation_ofimg Intermittent lactic acidemia C1844917
DISO_to_DISOmanifestation_ofimg Recurrent infections in infancy and early childhood C1844909
DISO_to_DISOmanifestation_ofimg Skeletal myopathy C1844915
DISO_to_DISOmanifestation_ofimg Ultrastructural abnormalities in mitochondria on electron microscopy C1844910
DISO_to_DISOinheritance_type_ofimg X- linked recessive C1845977
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanTAZ6901tafazzin
img OMIM, Score=1000, UMLKSK CUI: C0574083
img GENERIF, Score=1000, Pubmed Id: 15304507, UMLKSK CUI: C0574083
img OMIM, Score=1000, UMLKSK CUI: C0574083
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0574083Barth Syndrome0self