eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| barth syndrome | ||||
| Disease ID | 244 |
|---|---|
| Disease | barth syndrome |
| 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. |
| Synonym | 3 methylglutaconic aciduria, type ii 3 methylglutaconicaciduria type 2 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 2 (disorder) 3-methylglutaconic aciduria, type ii 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type 2s 3-methylglutaconicaciduria type ii 3-methylglutaconicaciduria type iis barth syndrome [disease/finding] barths syndrome bths cardioskeletal myopathy with neutropenia and abnormal mitochondria mga type 2 mga type 2s mga type ii mga type iis mga, type ii mga2 mgca2 syndrome, barth type 2, 3-methylglutaconicaciduria type 2, mga type 2s, mga type ii, mga type iis, mga |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0574083 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0878544 | cardiomyopathy | 3 C0027947 | neutropenia | 3 C0007193 | dilated cardiomyopathy | 1 C0018801 | heart failure | 1 C0878544 | myocardial disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:39) 26090 | ABHD12 | 3.571 | DISEASES 55750 | AGK | 3.469 | DISEASES 224 | ALDH3A2 | 1.857 | DISEASES 270 | AMPD1 | 2.999 | DISEASES 549 | AUH | 3.881 | DISEASES 633 | BGN | 1.205 | DISEASES 841 | CASP8 | 1.526 | DISEASES 1120 | CHKB | 2.487 | DISEASES 7555 | CNBP | 1.179 | DISEASES 113612 | CYP2U1 | 2.799 | DISEASES 80821 | DDHD1 | 3.93 | DISEASES 23259 | DDHD2 | 3.682 | DISEASES 1756 | DMD | 1.183 | DISEASES 1760 | DMPK | 2.17 | DISEASES 131118 | DNAJC19 | 4.836 | DISEASES 1837 | DTNA | 4.374 | DISEASES 10682 | EBP | 2.362 | DISEASES 2280 | FKBP1A | 2.75 | DISEASES 642489 | FKBP1C | 1.932 | DISEASES 11155 | LDB3 | 3.544 | DISEASES 4000 | LMNA | 1.673 | DISEASES 4010 | LMX1B | 1.68 | DISEASES 25974 | MMACHC | 2.017 | DISEASES 4519 | MT-CYB | 1.108 | DISEASES 4566 | MT-TK | 1.887 | DISEASES 4607 | MYBPC3 | 2.249 | DISEASES 4625 | MYH7 | 2.256 | DISEASES 378884 | NHLRC1 | 1.677 | DISEASES 190 | NR0B1 | 1.121 | DISEASES 8398 | PLA2G6 | 1.544 | DISEASES 57104 | PNPLA2 | 1.279 | DISEASES 10908 | PNPLA6 | 2.392 | DISEASES 9791 | PTDSS1 | 2.954 | DISEASES 84947 | SERAC1 | 4.791 | DISEASES 6444 | SGCD | 1.625 | DISEASES 26520 | TIMM9 | 3.203 | DISEASES 401505 | TOMM5 | 3.612 | DISEASES 157680 | VPS13B | 1.725 | DISEASES 23038 | WDTC1 | 1.36 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) TAZ | Xq28 |
| Disease ID | 244 |
|---|---|
| Disease | barth syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0008322 | Abnormal mitochondrial morphology HP:0001644 | Dilated cardiomyopathy HP:0001706 | Endocardial fibroelastosis HP:0001874 | Abnormality of neutrophils |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001638 | Cardiomyopathy | 3 HP:0001875 | Neutropenia | 3 HP:0012817 | Noncompaction of the ventricular myocardium | 2 HP:0011968 | Feeding difficulties | 1 HP:0001635 | Congestive heart failure | 1 HP:0011664 | Left ventricular non-compaction cardiomyopathy | 1 HP:0001644 | Congestive cardiomyopathy | 1 |
| Disease ID | 244 |
|---|---|
| Disease | barth syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:17) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894937 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | DNASE1L1;TAZ | X | 154413549 | T | C |
| rs104894941 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | DNASE1L1;TAZ | X | 154412129 | C | G |
| rs104894942 | 12032589 | 6901 | TAZ | umls:C0574083 | BeFree | Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. | 0.493572094 | 2002 | DNASE1L1;TAZ | X | 154413248 | C | A,T |
| rs104894942 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | DNASE1L1;TAZ | X | 154413248 | C | A,T |
| rs132630277 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | TAZ | X | 154420037 | G | A |
| rs387907218 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | TAZ | X | 154420676 | G | A,C |
| rs397515738 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | DNASE1L1;TAZ | X | 154412184 | C | T |
| rs397515739 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | DNASE1L1;TAZ | X | 154413525 | T | C |
| rs397515740 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | DNASE1L1;TAZ | X | 154413504 | T | C |
| rs397515741 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | DNASE1L1;TAZ | X | 154413507 | T | C |
| rs397515746 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | TAZ | X | 154420038 | G | A |
| rs397515747 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | TAZ | X | 154420657 | G | A |
| rs397515750 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | TAZ | X | 154420948 | C | T |
| rs587776741 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | TAZ | X | 154420211 | G | C |
| rs727504327 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | DNASE1L1;TAZ | X | 154413544 | G | A |
| rs727504394 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | TAZ | X | 154420668 | TG | - |
| rs727504431 | NA | 6901 | TAZ | umls:C0574083 | CLINVAR | NA | 0.493572094 | NA | TAZ | X | 154420212 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001874 | Abnormality of neutrophils | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0001644 | Dilated cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001706 | Endocardial fibroelastosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001874 | Abnormality of neutrophils | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001644 | Dilated cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 244 |
|---|---|
| Disease | barth syndrome |
| Case | (Waiting for update.) |