skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
3-Methylglutaconic aciduria type 2 (CUI C0574083) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0574083

NCI Thesaurus Code: C84585  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.

GARD Definition: Barth syndrome is a metabolic and neuromuscular disorder, occurring exclusively in males, that primarily affects the heart, immune system, and growth. It typically becomes apparent during infancy or early childhood, but the age of onset, associated symptoms and findings, and disease course varies considerably among affected individuals. The main characteristics of the condition include abnormalities of heart and skeletal muscle (cardiomyopathy and skeletal myopathy); low levels of certain white blood cells called neutrophils that help to fight bacterial infections (neutropenia); and growth retardation, potentially leading to short stature. Other signs and symptoms may include increased levels of certain organic acids in the urine and blood (such as 3-methylglutaconic acid), and increased thickness of the left ventricle of the heart due to endocardial fibroelastosis, which can cause potential heart failure. It is caused by mutations in the TAZ gene and is inherited in an X-linked recessive manner. Treatment is directed toward the specific symptoms that are apparent in each individual. - this information is from GARD/ORDR/NCATS.

MSH Definition: 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.

Synonyms & Abbreviations: (see Synonym Details)
3 Methylglutaconic Aciduria, Type II
3 Methylglutaconicaciduria Type 2
3-Methylglutaconic aciduria type 2 (disorder)
3-methylglutaconic aciduria type 2
3-methylglutaconic aciduria type II
3-Methylglutaconic Aciduria, Type II
3-Methylglutaconicaciduria Type 2s
3-Methylglutaconicaciduria Type 2
3-Methylglutaconicaciduria Type IIs
3-Methylglutaconicaciduria Type II
Barth Syndrome [Disease/Finding]
Barth syndrome
BTHS
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Cardioskeletal myopathy-neutropenia
MGA Type 2s
MGA Type 2
MGA Type IIs
MGA type II
MGA, TYPE II
MGA2
MGCA2
Syndrome, Barth
Type 2, 3-Methylglutaconicaciduria
Type 2, MGA
Type 2s, MGA
Type II, MGA
Type IIs, MGA
X-linked cardioskeletal myopathy and neutropenia

External Source Codes: 
NCI Thesaurus Code C84585 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID Xa6aY SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 17449 GARD
DISEASE_IDENTIFIER_ID 17450 GARD
DISEASE_IDENTIFIER_ID 17451 GARD
DISEASE_IDENTIFIER_ID 17452 GARD
DISEASE_IDENTIFIER_ID 30361 GARD
DISEASE_IDENTIFIER_ID 30362 GARD
DISEASE_IDENTIFIER_ID 30363 GARD
DISEASE_IDENTIFIER_ID 30364 GARD
DX 20100101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D056830 MSH
GENELOCUS ,X,q,2,8, OMIM
GENESYMBOL BTHS OMIM
GENESYMBOL CMD3A OMIM
GENESYMBOL EFE2 OMIM
GENESYMBOL LVNCX OMIM
GENESYMBOL TAZ OMIM
HAS_GARD_PAGE true GARD
HN 2010 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20090706 MSH
MESH_DEFINITION 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. NDFRT
MESH_DUI D056889 NDFRT
MESH_NAME Barth Syndrome NDFRT
MESH_UI M0529363 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20120703 MSH
MN C14.240.400.172 MSH
MN C14.280.400.172 MSH
MN C16.131.077.121 MSH
MN C16.131.240.400.172 MSH
MN C16.320.322.068 MSH
MN C16.320.565.398.224 MSH
MN C18.452.648.398.224 MSH
MOVED_FROM 300069 OMIM
MOVED_FROM 300183 OMIM
MOVED_FROM 305300 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Barth Syndrome NCI
NUI N0000181162 NDFRT
ORDER_NO 04687 ICD10CM
PM 2010 MSH
PRIMARY_PATH 10078537$10059674$10027424$10010331$Barth syndrome$Inborn errors of lipid metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 GARD
RXAUI 3286777 RXNORM
RXAUI 3286778 RXNORM
RXAUI 3287962 RXNORM
RXAUI 5038486 RXNORM
RXAUI 5038487 RXNORM
RXAUI 5038488 RXNORM
RXAUI 5039055 RXNORM
RXAUI 5039621 RXNORM
RXCUI 1022773 RXNORM
SMQ_TERM_ADDVERSION 19.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 19.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E71.1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E71.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E71.111 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E71.111 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~Xa6aY SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T734862 MSH
TERMUI T751310 MSH
TERMUI T822999 MSH
TERMUI T823000 MSH
TERMUI T823001 MSH
TERMUI T823002 MSH
TERMUI T824084 MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0574083

Mainbox Bottom