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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
..Starting node ..Barth Syndrome (D056889)
Child Nodes:
........Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria (C538496)
........Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked (C564571)
Sister Nodes:
..2,4-Dienoyl-CoA Reductase Deficiency (C565624)
..Acetyl-Coa Carboxylase Deficiency (C562678)
..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
..Apolipoprotein E, Deficiency or Defect of (C566260)
..Barth Syndrome (D056889) 2
..Carnitine palmitoyl transferase 1A deficiency (C535588)
..Carnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine-Acylcarnitine Translocase Deficiency (C562812)
..Cholesteryl Ester Transfer Protein Deficiency (C564591)
..Cytosolic acetoacetyl-CoA thiolase deficiency (C536005)
..Desmosterolosis (C566555)
..Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (C536080)
..Hyperlipidemia, Familial Combined (D006950) 2
..Hyperlipoproteinemia Type I (D008072) 1
..Hyperlipoproteinemia Type II (D006938) 4
..Hyperlipoproteinemia Type III (D006952)
..Hyperlipoproteinemia Type IV (D006953)
..Hyperlipoproteinemia Type V (D006954)
..Hypolipoproteinemias (D007009) 14
..Lipase deficiency combined (C535904)
..Lipidoses (D008064) 71
..Lipodystrophy, Congenital Generalized (D052497) 3
..Long-chain acyl-CoA dehydrogenase deficiency (C535690)
..Lp(A) Deficiency, Congenital (C563618)
..Medium chain acyl CoA dehydrogenase deficiency (C536038)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Peroxisomal ACYL-COA oxidase deficiency (C536662)
..Short chain Acyl CoA dehydrogenase deficiency (C537596)
..Sitosterolemia (C537345)
..Smith-Lemli-Opitz Syndrome (D019082) 1
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Triglyceride Storage Disease, Type I (C566031)
..Triglyceride Storage Disease, Type II (C566030)
..VLCAD deficiency (C536353)
..Xanthomatosis, Cerebrotendinous (D019294)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1172

Name:

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.

Alternative IDs:

OMIM:302060

ParentIDs:

MESH:D000015|MESH:D006330|MESH:D008052|MESH:D040181

TreeNumbers:

C14.240.400.172 |C14.280.400.172 |C16.131.077.121 |C16.131.240.400.172 |C16.320.322.068 |C16.320.565.398.224 |C18.452.648.398.224

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D056889
MeSH: D056889
OMIM: 302060;

Genes: TAZ;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003535	3-Methylglutaconic aciduria
3	HP:0008322	Abnormal mitochondrial morphology
4	HP:0011675	Arrhythmia
5	HP:0001635	Congestive heart failure
6	HP:0000490	Deeply set eye
7	HP:0001644	Dilated cardiomyopathy
8	HP:0001706	Endocardial fibroelastosis
9	HP:0003546	Exercise intolerance
10	HP:0001508	Failure to thrive
11	HP:0012378	Fatigue
12	HP:0000293	Full cheeks
13	HP:0001288	Gait disturbance
14	HP:0001913	Granulocytopenia
15	HP:0001510	Growth delay
16	HP:0001639	Hypertrophic cardiomyopathy
17	HP:0004913	Intermittent lactic acidemia
18	HP:0000400	Macrotia
19	HP:0000303	Mandibular prognathia
20	HP:0001270	Motor delay
21	HP:0002058	Myopathic facies
22	HP:0001875	Neutropenia	HP:0040283
23	HP:0001992	Organic aciduria	HP:0040283
24	HP:0005437	Recurrent infections in infancy and early childhood
25	HP:0000311	Round face
26	HP:0003756	Skeletal myopathy
27	HP:0001762	Talipes equinovarus	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_153640181)_(153641904_?)del	-1	-	Likely pathogenic	-1	RCV000154557;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153640181	153641904	-	-		-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.110-17C>T	-1	-	Uncertain significance	62617809	RCV000030474;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153640406	153640406	NM_000116.4:c.110-17C>T		NC_000023.10:g.153640406C>T	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.153C>G (p.Tyr51Ter)	6901	TAZ	Pathogenic	104894941	RCV000011850;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153640466	153640466	NM_000116.4:c.153C>G	NP_000107.1:p.Tyr51Ter	NC_000023.10:g.153640466C>G	OMIM Allelic Variant:300394.0002	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.208C>T (p.Gln70Ter)	6901	TAZ	Likely pathogenic	397515738	RCV000035087;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153640521	153640521	NM_000116.4:c.208C>T	NP_000107.1:p.Gln70Ter	NC_000023.10:g.153640521C>T	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.280C>A (p.Arg94Ser)	6901	TAZ	Pathogenic	104894942	RCV000011859;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153641585	153641585	NM_000116.4:c.280C>A	NP_000107.1:p.Arg94Ser	NC_000023.10:g.153641585C>A,NC_000023.10:g.153641585C>T	OMIM Allelic Variant:300394.0011	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.307T>C (p.Cys103Arg)	6901	TAZ	Likely pathogenic	397515740	RCV000035089;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153641841	153641841	NM_000116.4:c.307T>C	NP_000107.1:p.Cys103Arg	NC_000023.10:g.153641841T>C	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.310T>C (p.Phe104Leu)	6901	TAZ	Pathogenic	397515741	RCV000035090;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153641844	153641844	NM_000116.4:c.310T>C	NP_000107.1:p.Phe104Leu	NC_000023.10:g.153641844T>C	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.328T>C (p.Ser110Pro)	6901	TAZ	Likely pathogenic	397515739	RCV000035088;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153641862	153641862	NM_000116.4:c.328T>C	NP_000107.1:p.Ser110Pro	NC_000023.10:g.153641862T>C	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.347G>A (p.Gly116Asp)	6901	TAZ	Likely pathogenic	727504327	RCV000154422;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153641881	153641881	NM_000116.4:c.347G>A	NP_000107.1:p.Gly116Asp	NC_000023.10:g.153641881G>A	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.352T>C (p.Cys118Arg)	6901	TAZ	Pathogenic	104894937	RCV000011857;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153641886	153641886	NM_000116.4:c.352T>C	NP_000107.1:p.Cys118Arg	NC_000023.10:g.153641886T>C	OMIM Allelic Variant:300394.0009	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.584-7del	6901	TAZ	Likely benign	782192927	RCV000206800;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153648364	153648364	NM_000116.4:c.584-7del		NC_000023.10:g.153648364delT	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.589G>A (p.Gly197Arg)	6901	TAZ	Pathogenic	132630277	RCV000011854;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153648376	153648376	NM_000116.4:c.589G>A	NP_000107.1:p.Gly197Arg	NC_000023.10:g.153648376G>A	OMIM Allelic Variant:300394.0006	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.590G>A (p.Gly197Glu)	6901	TAZ	Likely pathogenic	397515746	RCV000035097;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153648377	153648377	NM_000116.4:c.590G>A	NP_000107.1:p.Gly197Glu	NC_000023.10:g.153648377G>A	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.647-1G>C	6901	TAZ	Pathogenic	587776741	RCV000011861;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153648550	153648550	NM_000116.4:c.647-1G>C		X:g.153648550G>C	OMIM Allelic Variant:300394.0013	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.647G>T (p.Gly216Val)	6901	TAZ	Likely pathogenic	727504431	RCV000154666;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153648551	153648551	NM_000116.4:c.647G>T	NP_000107.1:p.Gly216Val	NC_000023.10:g.153648551G>T	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.700-1G>A	6901	TAZ	Likely pathogenic	397515747	RCV000035098;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153648996	153648996	NM_000116.4:c.700-1G>A		NC_000023.10:g.153648996G>A	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.710_711delTG (p.Val237Alafs)	6901	TAZ	Pathogenic	727504394	RCV000154564;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153649007	153649008	NM_000116.4:c.710_711delTG	NP_000107.1:p.Val237Alafs	NC_000023.10:g.153649007_153649008delTG	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.718G>A (p.Gly240Arg)	6901	TAZ	Pathogenic	387907218	RCV000029171;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153649015	153649015	NM_000116.4:c.718G>A	NP_000107.1:p.Gly240Arg	NC_000023.10:g.153649015G>A,NC_000023.10:g.153649015G>C	OMIM Allelic Variant:300394.0014	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.718G>C (p.Gly240Arg)	6901	TAZ	Pathogenic	387907218	RCV000035099;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153649015	153649015	NM_000116.4:c.718G>C	NP_000107.1:p.Gly240Arg	NC_000023.10:g.153649015G>A,NC_000023.10:g.153649015G>C	-	C0574083 302060 3-Methylglutaconic aciduria type 2
NM_000116.4(TAZ):c.823C>T (p.Gln275Ter)	6901	TAZ	Likely pathogenic	397515750	RCV000035102;	N	MedGen:C0574083,OMIM:302060,ORPHA:111,SNOMED CT:297231002	X	153649287	153649287	NM_000116.4:c.823C>T	NP_000107.1:p.Gln275Ter	NC_000023.10:g.153649287C>T	-	C0574083 302060 3-Methylglutaconic aciduria type 2