ITCMDBv1
DiseaseID 2288

巴特综合征

disease

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asym

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Disease: 1Formula: 8Herb: 1Symptom: 12Target: 36Links: 57
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Record Fields

Scalar fields from the final disease record.

Disease Id
2288
Core Entity Id
2575
Source Entity Count
1
Preferred Name
Propionicaciduria
Name Cn
巴特综合征
Name Pinyin
Ba Te Zong He Zheng
Name En
Barth Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Do Class
genetic diseasegenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
Hpo Class
Abnormality of metabolism/homeostasis
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Class Name
disease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entitygenetic disease
Disease Definition
3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asym
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Propionicaciduria
Role
preferred
Name
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Role
preferred
Name
3-Methylglutaconic Aciduria Type 1
Role
preferred
Name
3-Methylglutaconic Aciduria, Type I
Role
preferred
Name
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
Role
preferred
Name
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Role
preferred
Name
Methylmalonic Aciduria, Cbla Type
Role
preferred
Name
Methylmalonic Aciduria, Cblb Type
Role
preferred
Name
Methylmalonic Aciduria, Mut(-) Type
Role
preferred
Name
Methylmalonic Aciduria, Mut(0) Type
Role
preferred
Name
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Role
preferred
Name
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Role
preferred
Name
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Role
preferred
Name
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
Role
preferred
Name
3-Methylcrotonyl Coa Carboxylase 2 Deficiency
Role
preferred
Name
3-Methylcrotonyl-Coa Carboxylase Deficiency
Role
preferred
Name
3-Methylglutaconic Aciduria Type 3
Role
preferred
Name
Barth Syndrome
Role
preferred
Name
Isovaleric Acidemia
Role
preferred
Name
Methylmalonic Aciduria Cbla Type
Role
preferred
Name
Methylmalonic Aciduria Cblb Type
Role
preferred
Name
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Role
preferred
Name
Other Disorders of Branched-Chain Amino-Acid Metabolism
Role
preferred
Name
Propionic Acidemia
Role
preferred
Name
3-METHYLCROTONYLGLYCINURIA II
Role
alias
Name
3-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY
Role
alias
Name
3-MG-CoA-HYDRATASE DEFICIENCY
Role
alias
Name
3-Methylglutaconic Aciduria, Type Iii
Role
alias
Name
Acidemia, Propionic
Role
alias
Name
BCKDK DEFICIENCY
Role
alias
Name
BCKDKD
Role
alias
Name
Complete Deficiency Of Methylmalonyl-CoA Mutase
Role
alias
Name
Costeff Optic Atrophy Syndrome
Role
alias
Name
Costeff Syndrome
Role
alias
Name
MCC2 DEFICIENCY
Role
alias
Name
MCC2D
Role
alias
Name
METHYLCROTONYLGLYCINURIA, TYPE II
Role
alias
Name
METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY
Role
alias
Name
METHYLMALONIC ACIDEMIA, CblA TYPE
Role
alias
Name
METHYLMALONIC ACIDEMIA, CblB TYPE
Role
alias
Name
METHYLMALONIC ACIDEMIA, TCblR TYPE
Role
alias
Name
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, CblA TYPE
Role
alias
Name
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, CblB TYPE
Role
alias
Name
MGA, TYPE I
Role
alias
Name
MGA1
Role
alias
Name
MGCA1
Role
alias
Name
Methylmalonic Acidemia Cbla Type
Role
alias
Name
Methylmalonic Acidemia Cblb Type
Role
alias
Name
Methylmalonic Acidemia Due To Transcobalamin Receptor Defect
Role
alias
Name
Mgca3
Role
alias
Name
Partial Deficiency Of Methylmalonyl-CoA Mutase
Role
alias
Name
Vitamin B12-unresponsive Methylmalonic Aciduria Type Mut-
Role
alias
Name
Vitamin B12-unresponsive Methylmalonic Aciduria Type Mut0
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0003571
Herb
HBDIS006366HBDIS008055HBDIS008056HBDIS008434HBDIS010269HBDIS017106HBDIS017108HBDIS017109HBDIS017680HBDIS019676HBDIS020702HBDIS021822HBDIS028932HBDIS028933
Me Sh
D056693
Omim
210210250950251000251100251110258501606054613646614923
Umls
C0268575C0268579C0268600C0311298C0342727C0342728C0342738C0574083C0574084C1855102C1855109C1855114C1855115C1855116C1859499C2717876C3150900C3554078
Icd10
E71.1
Sym Map
SMDE00118SMDE00415SMDE00435SMDE00695SMDE00961SMDE01001SMDE01138SMDE01754SMDE02133SMDE02430SMDE03258SMDE03568SMDE04315SMDE04707SMDE04980SMDE05014SMDE10967SMDE10968
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0268579C0342727C0342728C0348484C0574084C1855102C1855109C1855114C1855115C1855116C1859499C2717876C3150900C3554078
Orphanet
1112899163335667046670477931288639
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C10C11C16C18C23
Etcm Disease
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency3-Methylcrotonyl-Coa Carboxylase Deficiency3-Methylglutaconic Aciduria, Type IBarth SyndromeBranched-Chain Keto Acid Dehydrogenase Kinase DeficiencyMethylmalonic Aciduria Due to Methylmalonyl-Coa Mutase DeficiencyMethylmalonic Aciduria, Cbla TypeMethylmalonic Aciduria, Cblb Type
Tcmbank Disease
13459177711895920742218962387725640267852825728499293227360
Itcmdb Generated
ITX-DISEASE-87EC91992375ITX-DISEASE-8FFA55AE16CDITX-DISEASE-9BB8448716CAITX-DISEASE-AAE1524893D4ITX-DISEASE-BD5CDA7ACF9DITX-DISEASE-C5133321A34AITX-DISEASE-C90FB70BFE4EITX-DISEASE-D4BF0CFF5F25ITX-DISEASE-E0C550DB5D8BITX-DISEASE-F3A6BDFCC5A6

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v1,v2v2
Suppress
0
Page Title
Disease 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency Details pageDisease 3-Methylcrotonyl-Coa Carboxylase Deficiency Details pageDisease 3-Methylglutaconic Aciduria, Type I Details pageDisease Barth Syndrome Details pageDisease Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency Details pageDisease Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency Details pageDisease Methylmalonic Aciduria, Cbla Type Details pageDisease Methylmalonic Aciduria, Cblb Type Details page
Do Class Name
disease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entitygenetic disease
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
genetic diseasegenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Global Category
Genetic diseases;Metabolic diseases
Anatomical Category
Muscle diseases
Disease Name
3-Methylcrotonyl-Coa Carboxylase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Muscle diseases
Disease Name
3-Methylglutaconic Aciduria, Type I
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases;Neuronal diseases
Disease Name
Barth Syndrome
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases
Disease Name
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Liver diseases;Nephrological diseases;Neuronal diseases
Disease Name
Methylmalonic Aciduria, Cbla Type
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Nephrological diseases
Disease Name
Methylmalonic Aciduria, Cblb Type
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Nephrological diseases
Disease Definition
3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asym3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to t3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in fourPropionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, nVitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome