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| 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:
| 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
