BTHS
MCID: BRT005
MIFTS: 52

Barth Syndrome (BTHS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases, Cardiovascular diseases

Aliases & Classifications for Barth Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Barth Syndrome:

Name: Barth Syndrome 52 11 23 48 24 25 49 54 70 12 50 39 13
3-Methylglutaconic Aciduria Type 2 24 25 54 70 68
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 48 25 54 70
Mga Type Ii 11 48 25 70
Bths 48 25 54 70
3-Methylglutaconic Aciduria Type Ii 48 24 70
Mga2 24 54 70
3 Methylglutaconic Aciduria, Type Ii 25 27
Mga Type 2 11 25
Taz Defect 48 25
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked 70
Left Ventricular Non-Compaction Isolated X-Linked 70
X-Linked Cardioskeletal Myopathy and Neutropenia 54
 
Cardioskeletal Myopathy-Neutropenia Syndrome 54
Agammaglobulinemia 2, Autosomal Recessive 68
3-Alpha-Methylglutaconic Aciduria Type 2 70
Endocardial Fibroelastosis, X-Linked 24
Cardioskeletal Myopathy-Neutropenia 70
3-Methylglutaconicaciduria Type Ii 11
3-Methylglutaconicaciduria Type 2 11
Endocardial Fibroelastosis Type 2 24
Dnajc19 Defect 25
Mga, Type Ii 24
Mgca2 70
Invm 70
Agm2 70

Characteristics:

Orphanet epidemiological data:

54
barth syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United States),1-9/1000000 (United Kingdom); Age of onset: Childhood; Age of death: any age

HPO:

64
barth syndrome:
Inheritance: x-linked recessive inheritance

GeneReviews:

23
Penetrance: although the question of the penetrance of barth syndrome has never been formally evaluated, it is thought that males manifest complete penetrance, although with variable expressivity...


Classifications:



External Ids:

OMIM52 302060
Disease Ontology11 DOID:0050476
ICD1030 E78.71
MeSH39 D056889
NCIt45 C84585
SNOMED-CT62 297231002
Orphanet54 ORPHA111
MESH via Orphanet40 D056889
UMLS via Orphanet69 C0574083
ICD10 via Orphanet31 E71.1
MedGen37 C0574083

Summaries for Barth Syndrome

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NINDS:49 Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. Its main characteristics often include combinations in varying degrees of heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell cunt, which may lead to an increased risk for bacterial infections), reduced muscle tone (hypotonia), muscle weakness, undeveloped skeletal muscles, delayed growth, fatigue, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all of these characteristics, others may have only one or two and are often misdiagnosed. BTHS is an X-linked genetic condition passed from mother to son through the X chromosome. A mother who is a carrier of BTHS typically shows no signs or symptoms of the disorder herself. On average, 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will develop symptoms. All daughters born to an affected male will be carriers but typically will not have symptoms.

MalaCards based summary: Barth Syndrome, also known as 3-methylglutaconic aciduria type 2, is related to agammaglobulinemia 2 and 3-methylglutaconic aciduria, type v, and has symptoms including fatigue, fatigue and proximal weakness. An important gene associated with Barth Syndrome is TAZ (Tafazzin), and among its related pathways is Mitochondrial protein import. Affiliated tissues include heart, skeletal muscle and neutrophil.

Disease Ontology:11 A lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.

Genetics Home Reference:25 Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males.

NIH Rare Diseases:48 Barth syndrome is a metabolic and neuromuscular disorder, occurring almost exclusively in males, that primarily affects the heart, immune system, muscles, 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. barth syndrome 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. last updated: 2/25/2016

OMIM:52 Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with... (302060) more...

UniProtKB/Swiss-Prot:70 Barth syndrome: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood.

Wikipedia:71 Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linkedgenetic... more...

GeneReviews for NBK247162

Related Diseases for Barth Syndrome

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Graphical network of the top 20 diseases related to Barth Syndrome:



Diseases related to barth syndrome

Symptoms & Phenotypes for Barth Syndrome

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Symptoms by clinical synopsis from OMIM:

302060

Clinical features from OMIM:

302060

Human phenotypes related to Barth Syndrome:

 54 64 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy64 54 Very frequent (99-80%) HP:0001644
2 endocardial fibroelastosis64 54 Frequent (79-30%) HP:0001706
3 abnormality of neutrophils64 54 Frequent (79-30%) HP:0001874
4 abnormal mitochondrial morphology64 54 Frequent (79-30%) HP:0008322
5 full cheeks64 HP:0000293
6 mandibular prognathia64 HP:0000303
7 round face64 HP:0000311
8 macrotia64 HP:0000400
9 deeply set eye64 HP:0000490
10 motor delay64 HP:0001270
11 gait disturbance64 HP:0001288
12 failure to thrive64 HP:0001508
13 growth delay64 HP:0001510
14 congestive heart failure64 HP:0001635
15 hypertrophic cardiomyopathy64 HP:0001639
16 talipes equinovarus64 HP:0001762
17 neutropenia64 HP:0001875
18 granulocytopenia64 HP:0001913
19 myopathic facies64 HP:0002058
20 3-methylglutaconic aciduria64 HP:0003535
21 exercise intolerance64 HP:0003546
22 skeletal myopathy64 HP:0003756
23 intermittent lactic acidemia64 HP:0004913
24 recurrent infections in infancy and early childhood64 HP:0005437
25 arrhythmia64 HP:0011675
26 fatigue64 HP:0012378

UMLS symptoms related to Barth Syndrome:


fatigue, proximal weakness

Drugs & Therapeutics for Barth Syndrome

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Drugs for Barth Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Calcimimetic AgentsPhase 471
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 413168
3HormonesPhase 414415
4Hormone AntagonistsPhase 413180
5Cinacalcet HydrochloridePhase 471
6
PromethazineapprovedPhase 223460-87-74927
Synonyms:
(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(Dimethylamino-2-propyl-10-phenothiazine hydrochloride
10-(2-(Dimethylamino)-2-methylethyl)phenothiazine
10-(2-(Dimethylamino)propyl)phenothiazine
10-(2-Dimethylaminopropyl)phenothiazine
10-[2-(Dimethylamino)propyl]phenothiazine
10-[2-(dimethylamino)Propyl]phenothiazine
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)
3277 RP
3389 R.p.
38878-40-9
4-27-00-01253 (Beilstein Handbook Reference)
4182 R.p.
60-87-7
73745-50-3
A-91033
AB00053535
AC-15939
AC1L1J92
Antiallersin
Aprobit
Avomine
BPBio1_000744
BRN 0088554
BSPBio_000676
BSPBio_002777
C07404
CCRIS 7056
CHEBI:8461
CHEMBL643
CID4927
Camergan
D00494
DB01069
Dimapp
Dimethylamino-isopropyl-phenthiazin
Dimethylamino-isopropyl-phenthiazin [German]
Diphergan
Diprazin
Diprazine
Diprozin
DivK1c_000005
EINECS 200-489-2
Fargan
Fenazil
Fenetazina
Fenetazine
Genphen
HMS2089E08
HSDB 3173
Hiberna
Histargan
IDI1_000005
Iergigan
InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3
Isophenergan
Isopromethazine
KBio1_000005
KBio2_001348
KBio2_003916
KBio2_006484
KBio3_001997
KBioGR_001697
KBioSS_001348
L000495
LS-264
Lercigan
Lergigan
Lilly 01516
Lilly 1516
Lopac0_000899
Metaryl
MolPort-001-783-684
N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine
N,N,α-trimethyl-10H-phenothiazine-10-ethanamine
N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine
 
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride
N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine
N-(2'-dimethylamino-2'-Methyl)ethylphenothiazine
N-Dimethylamino-2-methylethyl thiodiphenylamine
NCGC00015817-10
NCGC00089735-02
NCGC00089735-03
NCI-C60673
NCI60_001878
NINDS_000005
NSC 30321
NSC30321
Oprea1_758749
PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)
Pelpica
Phargan
Phenargan
Phenerzine
Phenoject-50
Phensedyl
Pilothia
Pilpophen
Pipolphene
Prestwick0_000888
Prestwick1_000888
Prestwick2_000888
Prestwick3_000888
Pro-50
Proazaimine
Proazamine
Procit
Promacot
Promazinamide
Promergan
Promesan
Prometasin
Prometazin
Prometazina
Prometazina [INN-Spanish]
Prometazine
Prometh
Promethacon
Promethaine
Promethazin
Promethazine
Promethazine (JAN/INN)
Promethazine [INN:BAN]
PromethazineHcl
Promethazinum
Promethazinum [INN-Latin]
Promethegan
Promethiazine
Promezathine
Prorex
Protazine
Prothazin
Prothazine
Provigan
Pyrethia
Pyrethiazine
RP 3277
Remsed
Romergan
Rumergan
SKF 1498
SPBio_000799
SPBio_002895
Spectrum2_000840
Spectrum3_001019
Spectrum4_001149
Spectrum5_000977
Spectrum_000868
Tanidil
Thiergan
UNII-FF28EJQ494
Valergine
Vallergine
WLN: T C666 BN ISJ B1Y1&N1&1
WY 509
Zipan-25
promethazine
7
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
8
Prednisoneapproved, vet_approvedPhase 2139853-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
9
AcetaminophenapprovedPhase 21026103-90-21983
Synonyms:
4'-Hydroxyacetanilide
4'-hydroxyacetanilide
4-(Acetylamino)phenol
4-Acetamidophenol
4-Acetaminophenol
4-Hydroxyacetanilide
4-Hydroxyanilid kyseliny octove
4-acetamidophenol
A-Per
A.F. Anacin
AC1Q1KYJ
AC1Q1KYK
APAP
Abenol
Abensanil
Abrol
Abrolet
Acamol
Accu-Tap
Acenol
Acephen
Acertol
Aceta Elixir
Aceta Tablets
Acetaco
Acetagesic
Acetalgin
Acetaminofen
Acetaminophen
Acetaminophen Uniserts
Acetamol
Acetavance
Acetofen
Actamin
Actamin Extra
Actamin Super
Actifed Plus
Actimol
Actimol Chewable Tablets
Actimol Children'S Suspension
Actimol Infants' Suspension
Actimol Junior Strength Caplets
Actron
Afebrin
Afebryl
Aferadol
Algesidal
Algina
Algomol
Algotropyl
Allay
Alpiny
Alpinyl
Alvedon
Amadil
Aminofen
Aminofen Max
Anacin
Anacin 3
Anacin-3
Anacin-3 Extra Strength
Anadin dla dzieci
Anaflon
Analter
Anapap
Andox
Anelix
Anexsia
Anexsia 10/660
Anexsia 5/325
Anexsia 7.5/325
Anexsia 7.5/650
Anhiba
Anoquan
Anti-Algos
Antidol
Anuphen
Apacet
Apacet Capsules
Apacet Elixir
Apacet Extra Strength Caplets
Apacet Extra Strength Tablets
Apacet Regular Strength Tablets
Apadon
Apamid
Apamide
Apitrelal
Apo-Acetaminophen
Arfen
Arthralgen
Asetam
Asomal
Aspac
Aspirin Free Anacin Maximum Strength Caplets
Aspirin Free Anacin Maximum Strength Gel Caplets
Aspirin Free Anacin Maximum Strength Tablets
Aspirin-Free Anacin
Aspirin-Free Excedrin Caplets
Asplin
Atasol
Atasol Caplets
Atasol Drops
Atasol Forte Caplets
Atasol Forte Tablets
Atasol Oral Solution
Atasol Tablets
Atralidon
Babikan
Bacetamol
Bancap
Bancap Hc
Banesin
Bayer Select
Bayer Select Allergy-Sinus
Bayer Select Head Cold
Bayer Select Headache Pain
Bayer Select Maximum Strength Headache Pain Relief Formula
Bayer Select Menstrual Multi-Symptom
Bayer Select Sinus Pain Relief
Ben-u-ron
Benmyo
Bickie-mol
Biocetamol
Bucet
Butalbital
Butapap
CCRIS 3
CHEBI:46195
Cadafen
Calapol
Calmanticold
Calonal
Calpol
Capital
Capital with Codeine
Captin
Causalon
Cefalex
Cetadol
Children'S Acetaminophen Elixir Drops
Children'S Acetaminophen Oral Solution
Children'S Tylenol Chewable
Claradol Codeine
Clixodyne
Co-Gesic
Cod-Acamol Forte
Codabrol
Codalgin
Codapane
Codicet
Codisal
Codisal Forte
Codoliprane
Codral Pain Relief
Cofamol
Conacetol
Contac Cough & Sore Throat Formula
Contra-Schmerz P
Coricidin
Coricidin D
Coricidin Sinus
Cosutone
Croix Blanche
Cuponol
Curadon
Curpol
Custodial
D oliprane
Dafalgan
Dapa
Dapa X-S
Darocet
Darvocet
Darvocet-N 50
Datril
Datril Extra-Strength
Daygrip
Demilets
Deminofen
Democyl
Demogripal
Desfebre
Dhamol
Dhc Plus
Dial-a-gesic
Dial-alpha-gesic
Dimindol
Dirox
Disprol
Dol-Stop
Dolcor
Dolefin
Dolegrippin
Dolene AP-65
Dolene Ap-65
Dolgesic
Doliprane
Dolko
Dolofugin
Doloreduct
Dolorfug
Dolorol Forte
Dolorstop
Dolotec
Dolprone
Dorocoff
Dresan
Dristan Cold No Drowsiness
Dristancito
Drixoral Plus
Duaneo
Dularin
Duorol
Duracetamol
Duradyne Dhc
Durapan
Dymadon
Dymadon Co
Dymadon Forte
Dypap
Ecosetol
Elixodyne
Empracet
Endecon
Enelfa
Eneril
Esgic
Esgic-Plus
Eu-Med
Excedrin
Excedrin Caplets
Excedrin Extra Strength Caplets
Excipain
Exdol
Exdol Strong
Fanalgic
Farmadol
Febranine
Febrectal
Febrectol
Febrex
Febricet
Febridol
Febrilix
Febrin
Febrinol
Febro-Gesic
Febrolin
Femcet
Fendon
Fensum
Fepanil
Fever All
Feverall
Feverall Junior Strength
Feverall Sprinkle Caps Junior Strength
Fevor
Finimal
Finiweh
Fioricet
Fluparmol
Fortalidon P
Freka-cetamol
Gattaphen T
Gelocatil
Geluprane
Genapap
Genapap Children'S Elixir
Genapap Children'S Tablets
Genapap Extra Strength Caplets
Genapap Extra Strength Tablets
Genapap Regular Strength Tablets
Genebs
Genebs Extra Strength Caplets
Genebs Regular Strength Tablets
Genebs X-Tra
Geralgine-P
Gripin Bebe
Grippostad
Gynospasmine
Hedex
Helon N
Homoolan
Hy-Phen
Hycomine Compound
Hydrocet
Ildamol
Inalgex
Infadrops
Infants' Feverall
Influbene N
Injectapap
Intensin
Janupap
Jin Gang
Junior Disprol
KBio1_000660
Kataprin
Kinder Finimal
Korum
Kratofin simplex
L024125
Labamol
Lekadol
Lemgrip
Lemsip
Lestemp
Liqiprine
Liquagesic
Liquigesic Co
Liquiprin
Liquiprin Children'S Elixir
Liquiprin Infants" Drops
Lonarid
Lonarid Mono
Lorcet-Hd
Lortab
Lupocet
Lyteca
Lyteca Syrup
Magnidol
Malex N
Malgis
Malidens
Maxadol
Medigesic Plus
Medinol Paediatric
Medocodene
Melabon Infantil
Mexalen
Midol Maximum Strength
Midol PM Night Time Formula
Midol Regular Strength
Midol Teen Formula
Migraleve Yellow
Minafen
Minoset
Miralgin
Momentum
Mono Praecimed
 
Multin
N-(4-Hydroxyphenyl)acetamide
N-Acetyl-4-aminophenol
N-Acetyl-p-aminophenol
N-acetyl-p-aminophenol
NAPA
NCX 701
NEBS
NSC3991
Naldegesic
Napafen
Napap
Naprinol
Nealgyl
Nebs
Neo-Fepramol
NeoCitran
Neodol
Neodolito
Neopap
Neotrend
Neuridon
New Cortal for Children
NilnOcen
Nina
No-Febril
Nobedon
Nodolex
Noral
Norcet
Norco
O-Acetaminophenol
Ofirmev
Oltyl
Oralgan
Oraphen-PD
Ortensan
Oxycet
Oxycocet
Oxycodone 2.5/Apap 500
Oxycodone 5/Apap 500
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acetaminofén
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p-(Acetylamino)phenol
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p-acetamidophenol
p-acetaminophenol
p-hydroxy-acetanilid
p-hydroxyacetanilide
p-hydroxyphenolacetamide
10
DiphenhydramineapprovedPhase 223458-73-1, 147-24-03100
Synonyms:
147-24-0
147-24-0 (HYDROCHLORIDE)
2-(Benzhydryloxy)-N,N-dimethylethylamine
2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride
2-(Diphenylmethoxy)-N,N-dimethylethylamine
2-(diphenylmethoxy)-N,N-dimethylethanamine
2-Diphenylmethoxy-N,N-dimethylethylamine
2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine
2-benzhydryloxy-N,N-dimethylethanamine
2-benzhydryloxyethyl-N,N-dimethylammonium
2-diphenylmethoxy-N,N-demthylethanamine
2PM
58-73-1
88637-37-0 (citrate (1:1))
AB00053460
AC-13704
AC1L1F65
AKOS003658554
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BIDD:GT0152
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CAS-147-24-0
CCRIS 1959
CHEBI:127629
CHEBI:4636
CHEMBL657
CID3100
CPD-10890
Compoz
D00300
DB01075
DB06975
DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE
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Diphenhydraminum
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Diphenylhydramin
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DivK1c_000368
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EINECS 200-396-7
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I14-6749
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KBio1_000368
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KBioSS_001460
L000227
LS-68208
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MLS002222276
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N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride
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N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]
N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE
NCGC00015335-01
NCGC00015335-02
NCGC00015335-03
NCGC00015335-10
NCGC00024414-03
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NCI60_002916
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TL8003758
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UNII-8GTS82S83M
Unisom Sleepgels Maximum Strength
alpha-(2-Dimethylaminoethoxy)diphenylmethane
beta-Dimethylamino-aethyl-benzhydryl-aether
beta-Dimethylamino-aethyl-benzhydryl-aether [German]
beta-Dimethylaminoethanol diphenylmethyl ether
beta-Dimethylaminoethyl benzhydryl ether
beta-Dimethylaminoethylbenzhydrylether
beta-dimethylaminoethyl benzhydryl ether
diphenhydramine
nchembio747-comp18
β-dimethylaminoethyl benzhydryl ether
11Antirheumatic AgentsPhase 210956
12AnalgesicsPhase 1, Phase 211733
13Peripheral Nervous System AgentsPhase 223689
146-(4-fluorophenyl)-2,3-dihydro-5-(4-pyridinyl)imidazo(2,1-b)thiazolePhase 25
15Anti-Inflammatory Agents, Non-SteroidalPhase 24443
16Anti-Inflammatory AgentsPhase 210729
17Analgesics, Non-NarcoticPhase 26501
18VaccinesPhase 16611
19Pharmaceutical SolutionsPhase 18192
20
Pyruvateapproved, Nutraceutical44
Synonyms:
 
2-oxopropanoate
21methicillin162
22Coagulase11
23Catalase4

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary HyperparathyroidismCompletedNCT00132431Phase 4
2A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth SyndromeRecruitingNCT03098797Phase 2, Phase 3
3Rituximab in Patients With Relapsed or Refractory TTP-HUSUnknown statusNCT00531089Phase 2
4Effects of Vaporized Marijuana on Neuropathic PainCompletedNCT01037088Phase 1, Phase 2
5Resistance Exercise in Barth SyndromeRecruitingNCT01629459Phase 2
6Effect of Cannabis and Endocannabinoids on HIV Neuropathic PainNot yet recruitingNCT03099005Phase 2
7PTC299 for Treatment of Neurofibromatosis Type 2SuspendedNCT00911248Phase 2
8Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down SyndromeRecruitingNCT02738450Phase 1
9Exercise Training in Barth SyndromeCompletedNCT01194141
10Prospective Study Into the Performance of the MicroPhage S. Aureus/MSSA/MRSA Test Direct From Blood Culture PositivesCompletedNCT01184339
11Heart and Muscle Metabolism in Barth SyndromeRecruitingNCT01625663
12North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
13Exercise in Genetic Cardiovascular ConditionsRecruitingNCT02549664
14Monocyte Profiles in Critically Ill Patients With Pseudomonas Aeruginosa SepsisRecruitingNCT03044223
15Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304

Search NIH Clinical Center for Barth Syndrome


Cochrane evidence based reviews: barth syndrome

Genetic Tests for Barth Syndrome

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Genetic tests related to Barth Syndrome:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria Type 227 24 TAZ

Anatomical Context for Barth Syndrome

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MalaCards organs/tissues related to Barth Syndrome:

36
Heart, Skeletal muscle, Neutrophil, Eye, Pituitary, Skin, Testes

Publications for Barth Syndrome

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Articles related to Barth Syndrome:

(show top 50)    (show all 156)
idTitleAuthorsYear
1
Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis. (28108107)
2017
2
Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome. (28188263)
2017
3
Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome. (28196853)
2017
4
The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. (28279226)
2017
5
Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts. (28097490)
2017
6
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy. (28070695)
2017
7
Barth syndrome cardiomyopathy. (28158532)
2017
8
Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20. (28318529)
2017
9
New targets for monitoring and therapy in Barth syndrome. (26845103)
2016
10
Defining functional classes of Barth syndrome mutation in humans. (26908608)
2016
11
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. (27358708)
2016
12
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. (28289596)
2016
13
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study. (27295193)
2016
14
Loss of protein association causes cardiolipin degradation in Barth syndrome. (27348092)
2016
15
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. (26853223)
2016
16
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing. (27124939)
2016
17
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. (27015085)
2016
18
A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome. (25776009)
2015
19
Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth Syndrome. (26191532)
2015
20
Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. (26415690)
2015
21
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. (25941633)
2015
22
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience. (26337810)
2015
23
Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. (26697888)
2015
24
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. (26373950)
2015
25
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome. (25860817)
2015
26
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. (25782672)
2015
27
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome. (26144817)
2015
28
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. (26834781)
2015
29
Cardiac metabolic pathways affected in the mouse model of barth syndrome. (26030409)
2015
30
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. (26251611)
2015
31
The mitochondrial quality control protein yme1 is necessary to prevent defective mitophagy in a yeast model of barth syndrome. (25688091)
2015
32
Tafazzin splice variants and mutations in Barth syndrome. (24342716)
2014
33
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. (25112388)
2014
34
Clinical laboratory studies in Barth Syndrome. (24751896)
2014
35
Pharmacogenomic considerations in the treatment of the pediatric cardiomyopathy called Barth syndrome. (25185984)
2014
36
Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence. (25118650)
2014
37
The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype. (24445246)
2014
38
Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection. (24901565)
2014
39
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. (24813252)
2014
40
Your heart on a chip: iPSC-based modeling of Barth-syndrome-associated cardiomyopathy. (24996164)
2014
41
Barth syndrome. (23398819)
2013
42
Novel mutations in the TAZ gene in patients with Barth syndrome. (24093814)
2013
43
Natural history of Barth syndrome: a national cohort study of 22 patients. (23656970)
2013
44
Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome. (23190323)
2013
45
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. (23792436)
2013
46
Barth syndrome. (23843353)
2013
47
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. (23361305)
2013
48
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. (23109063)
2013
49
Barth syndrome in adulthood: a clinical case. (22999963)
2013
50
Barth syndrome in adulthood: a clinical case. (23485191)
2013

Variations for Barth Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Barth Syndrome:

70
id Symbol AA change Variation ID SNP ID
1TAZp.Arg94SerVAR_014110rs104894942
2TAZp.Cys118ArgVAR_014111rs104894937
3TAZp.Gly197ArgVAR_014112rs132630277
4TAZp.Gly240ArgVAR_068434rs387907218

Clinvar genetic disease variations for Barth Syndrome:

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1TAZTAZ, IVS2AS, G-A, -1SNVPathogenic
2TAZNM_ 000116.4(TAZ): c.153C> G (p.Tyr51Ter)SNVPathogenicrs104894941GRCh37Chr X, 153640466: 153640466
3TAZTAZ, IVS2AS, G-C, -1SNVPathogenic
4TAZTAZ, 1-BP INS, NT868insertionPathogenic
5TAZTAZ, 1-BP DELdeletionPathogenic
6TAZNM_ 000116.4(TAZ): c.589G> A (p.Gly197Arg)SNVPathogenicrs132630277GRCh37Chr X, 153648376: 153648376
7TAZTAZ, IVS1DS, G-C, +5SNVPathogenic
8TAZTAZ, IVS3DS, G-A, +110SNVPathogenic
9TAZNM_ 000116.4(TAZ): c.352T> C (p.Cys118Arg)SNVPathogenicrs104894937GRCh37Chr X, 153641886: 153641886
10TAZTAZ, IVS1AS, A-G, -2SNVPathogenic
11TAZNM_ 000116.4(TAZ): c.280C> A (p.Arg94Ser)SNVPathogenicrs104894942GRCh37Chr X, 153641585: 153641585
12TAZTAZ, 4-BP DEL, AGTGdeletionPathogenic
13TAZNM_ 000116.4(TAZ): c.647-1G> CSNVPathogenicrs587776741GRCh37Chr X, 153648550: 153648550
14TAZNM_ 000116.4(TAZ): c.347G> A (p.Gly116Asp)SNVLikely pathogenicrs727504327GRCh37Chr X, 153641881: 153641881
15TAZNC_ 000023.10: g.(?_ 153640181)_ (153641904_ ?)deldeletionLikely pathogenicGRCh37Chr X, 153640181: 153641904
16TAZNM_ 000116.4(TAZ): c.710_ 711delTG (p.Val237Alafs)deletionPathogenicrs727504394GRCh37Chr X, 153649007: 153649008
17TAZNM_ 000116.4(TAZ): c.647G> T (p.Gly216Val)SNVLikely pathogenicrs727504431GRCh37Chr X, 153648551: 153648551
18TAZNM_ 000116.4(TAZ): c.227C> G (p.Pro76Arg)SNVLikely pathogenicrs878853654GRCh37Chr X, 153640540: 153640540
19TAZNM_ 000116.4(TAZ): c.718G> A (p.Gly240Arg)SNVPathogenicrs387907218GRCh37Chr X, 153649015: 153649015
20TAZNM_ 000116.4(TAZ): c.208C> T (p.Gln70Ter)SNVLikely pathogenicrs397515738GRCh37Chr X, 153640521: 153640521
21TAZNM_ 000116.4(TAZ): c.328T> C (p.Ser110Pro)SNVLikely pathogenicrs397515739GRCh37Chr X, 153641862: 153641862
22TAZNM_ 000116.4(TAZ): c.307T> C (p.Cys103Arg)SNVLikely pathogenicrs397515740GRCh37Chr X, 153641841: 153641841
23TAZNM_ 000116.4(TAZ): c.310T> C (p.Phe104Leu)SNVPathogenicrs397515741GRCh37Chr X, 153641844: 153641844
24TAZNM_ 000116.4(TAZ): c.590G> A (p.Gly197Glu)SNVLikely pathogenicrs397515746GRCh37Chr X, 153648377: 153648377
25TAZNM_ 000116.4(TAZ): c.700-1G> ASNVLikely pathogenicrs397515747GRCh38Chr X, 154420657: 154420657
26TAZNM_ 000116.4(TAZ): c.718G> C (p.Gly240Arg)SNVPathogenicrs387907218GRCh37Chr X, 153649015: 153649015
27TAZNM_ 000116.4(TAZ): c.823C> T (p.Gln275Ter)SNVLikely pathogenicrs397515750GRCh37Chr X, 153649287: 153649287

Expression for genes affiliated with Barth Syndrome

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Search GEO for disease gene expression data for Barth Syndrome.

Pathways for genes affiliated with Barth Syndrome

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Pathways related to Barth Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2DNAJC19, TAZ, TOMM40

GO Terms for genes affiliated with Barth Syndrome

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Cellular components related to Barth Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.4DNAJC19, SDHA, TAZ, TOMM40
2mitochondrionGO:00057398.3DNAJC19, PLA2G6, SDHA, TAZ, TOMM40

Biological processes related to Barth Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cardiolipin biosynthetic processGO:003204910.2PLA2G6, TAZ
2protein targeting to mitochondrionGO:00066269.5DNAJC19, TOMM40

Sources for Barth Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet