PedAM

Pediatric Disease Annotations & Medicines


	barth syndrome

Disease ID	131
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	ORPHANET:111
OMIM	OMIM:302060
DOID	DOID:0050476
UMLS	C0574083
MeSH	D056889
SNOMED-CT	SNOMEDCT_US_2016_09_01:297231002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0027947 \| neutropenia \| 3 C0878544 \| cardiomyopathy \| 3 C0007193 \| dilated cardiomyopathy \| 1 C0878544 \| myocardial disease \| 1 C0018801 \| heart failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) TAZ \| 6901 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:73) 1774 \| DNASE1L1 \| DISEASES 6640 \| SNTA1 \| DISEASES 79152 \| FA2H \| DISEASES 1440 \| CSF3 \| DISEASES 4358 \| MPV17 \| DISEASES 5153 \| PDE1B \| DISEASES 6535 \| SLC6A8 \| DISEASES 23175 \| LPIN1 \| DISEASES 26519 \| TIMM10 \| DISEASES 50640 \| PNPLA8 \| DISEASES 2201 \| FBN2 \| DISEASES 8455 \| ATRN \| DISEASES 4885 \| NPTX2 \| DISEASES 7168 \| TPM1 \| DISEASES 5428 \| POLG \| DISEASES 10413 \| YAP1 \| DISEASES 8526 \| DGKE \| DISEASES 51422 \| PRKAG2 \| DISEASES 70 \| ACTC1 \| DISEASES 5130 \| PCYT1A \| DISEASES 81570 \| CLPB \| DISEASES 9076 \| CLDN1 \| DISEASES 1040 \| CDS1 \| DISEASES 6901 \| TAZ \| DISEASES 2548 \| GAA \| DISEASES 54205 \| CYCS \| DISEASES 253558 \| LCLAT1 \| DISEASES 54968 \| TMEM70 \| DISEASES 2688 \| GH1 \| DISEASES 1537 \| CYC1 \| DISEASES 201164 \| PLD6 \| DISEASES 637 \| BID \| DISEASES 58492 \| ZNF77 \| DISEASES 80207 \| OPA3 \| DISEASES 80821 \| DDHD1 \| DISEASES 633 \| BGN \| DISEASES 8398 \| PLA2G6 \| DISEASES 113612 \| CYP2U1 \| DISEASES 57104 \| PNPLA2 \| DISEASES 6444 \| SGCD \| DISEASES 378884 \| NHLRC1 \| DISEASES 224 \| ALDH3A2 \| DISEASES 1760 \| DMPK \| DISEASES 4625 \| MYH7 \| DISEASES 55750 \| AGK \| DISEASES 4010 \| LMX1B \| DISEASES 841 \| CASP8 \| DISEASES 157680 \| VPS13B \| DISEASES 4519 \| MT-CYB \| DISEASES 1756 \| DMD \| DISEASES 23038 \| WDTC1 \| DISEASES 84947 \| SERAC1 \| DISEASES 4000 \| LMNA \| DISEASES 642489 \| FKBP1C \| DISEASES 549 \| AUH \| DISEASES 26090 \| ABHD12 \| DISEASES 190 \| NR0B1 \| DISEASES 2280 \| FKBP1A \| DISEASES 131118 \| DNAJC19 \| DISEASES 26520 \| TIMM9 \| DISEASES 23259 \| DDHD2 \| DISEASES 1837 \| DTNA \| DISEASES 25974 \| MMACHC \| DISEASES 1120 \| CHKB \| DISEASES 11155 \| LDB3 \| DISEASES 10908 \| PNPLA6 \| DISEASES 7555 \| CNBP \| DISEASES 10682 \| EBP \| DISEASES 270 \| AMPD1 \| DISEASES 9791 \| PTDSS1 \| DISEASES 401505 \| TOMM5 \| DISEASES 4607 \| MYBPC3 \| DISEASES 4566 \| MT-TK \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) TAZ \| Xq28

Disease ID	131
Disease	barth syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:4) HP:0001874 \| Abnormality of neutrophils HP:0001706 \| Endocardial fibroelastosis HP:0001644 \| Dilated cardiomyopathy HP:0008322 \| Abnormal mitochondrial morphology
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:0011664 \| Left ventricular non-compaction cardiomyopathy \| 1 HP:0011968 \| Feeding difficulties \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1

Disease ID	131
Disease	barth syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C0878544 \| cardiomyopathy C0151723 \| hypomagnesemia C0038454 \| stroke C0027947 \| neutropenia C0007193 \| dilated cardiomyopathy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0027947 \| neutropenia \| 3 C0878544 \| cardiomyopathy \| 3 C0007193 \| dilated cardiomyopathy \| 1

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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