MCID: BRT005
MIFTS: 53

Barth Syndrome 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:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Barth Syndrome:

Name: Barth Syndrome 50 11 22 46 23 24 47 13 52 68 12 48 37
3-Methylglutaconic Aciduria Type 2 23 24 52 68 66
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 46 24 52 68
Mga Type Ii 11 46 24 68
Bths 46 24 52 68
3-Methylglutaconic Aciduria Type Ii 46 23 68
Mga2 23 52 68
3 Methylglutaconic Aciduria, Type Ii 24 25
Mga Type 2 11 24
Taz Defect 46 24
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked 68
Left Ventricular Non-Compaction Isolated X-Linked 68
 
X-Linked Cardioskeletal Myopathy and Neutropenia 52
Cardioskeletal Myopathy-Neutropenia Syndrome 52
3-Alpha-Methylglutaconic Aciduria Type 2 68
Endocardial Fibroelastosis, X-Linked 23
Cardioskeletal Myopathy-Neutropenia 68
3-Methylglutaconicaciduria Type Ii 11
Endocardial Fibroelastosis Type 2 23
3-Methylglutaconicaciduria Type 2 11
Dnajc19 Defect 24
Mga, Type Ii 23
Invm 68
Agm2 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
barth syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 302060
Disease Ontology11 DOID:0050476
ICD1028 E78.71
MeSH37 D056889
NCIt43 C84585
SNOMED-CT60 297231002
Orphanet52 ORPHA111
ICD10 via Orphanet29 E71.1
MESH via Orphanet38 D056889
UMLS via Orphanet67 C0574083
MedGen35 C0574083

Summaries for Barth Syndrome

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NINDS:47 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 count, 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 familial isolated noncompaction of left ventricular myocardium, and has symptoms including hypertrophic cardiomyopathy, abnormality of neutrophils and abnormality of the musculature. 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.

NIH Rare Diseases:46 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

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

OMIM:50 Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with... (302060) more...

Wikipedia:69 Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linkedgenetic... more...

GeneReviews summary 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 for Barth Syndrome

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Symptoms by clinical synopsis from OMIM:

302060

Clinical features from OMIM:

302060

Symptoms:

 52
  • dilated cardiomyopathy
  • endocardial fibroelastosis
  • abnormality of neutrophils
  • abnormal mitochondrial morphology

HPO human phenotypes related to Barth Syndrome:

(show all 29)
id Description Frequency HPO Source Accession
1 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
2 abnormality of neutrophils typical (50%) HP:0001874
3 abnormality of the musculature typical (50%) HP:0003011
4 abnormality of the endocardium typical (50%) HP:0004306
5 talipes equinovarus rare (5%) HP:0001762
6 neutropenia rare (5%) HP:0001875
7 full cheeks HP:0000293
8 mandibular prognathia HP:0000303
9 round face HP:0000311
10 macrotia HP:0000400
11 deeply set eye HP:0000490
12 motor delay HP:0001270
13 gait disturbance HP:0001288
14 failure to thrive HP:0001508
15 growth delay HP:0001510
16 congestive heart failure HP:0001635
17 hypertrophic cardiomyopathy HP:0001639
18 dilated cardiomyopathy HP:0001644
19 endocardial fibroelastosis HP:0001706
20 granulocytopenia HP:0001913
21 myopathic facies HP:0002058
22 3-methylglutaconic aciduria HP:0003535
23 exercise intolerance HP:0003546
24 skeletal myopathy HP:0003756
25 intermittent lactic acidemia HP:0004913
26 recurrent infections in infancy and early childhood HP:0005437
27 abnormal mitochondrial morphology HP:0008322
28 arrhythmia HP:0011675
29 fatigue HP:0012378

UMLS symptoms related to Barth Syndrome:


fatigue, myopathic facies, 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 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabPhase 21611174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
AcetaminophenPhase 2930103-90-21983
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
Acetaminophene
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
PCM Paracetamol Lichtenstein
Paceco
Pacemo
Pacemol
Pacet
Pacimol
Paedialgon
Paedol
Painex
Paldesic
Pamol
Panacete
Panadeine
Panadeine Co
Panadiene
Panado-Co
Panado-Co Caplets
Panadol
Panadol Extra Strength
Panadol Junior Strength Caplets
Panadol Maximum Strength Caplets
Panadol Maximum Strength Tablets
Panale ve
Panaleve
Panamax
Panasorb
Panasorbe
Panets
Panex
Panodil
Panofen
Pantalgin
Papa-Deine
Papa-Deine #3
Papa-Deine #4
Para-Suppo
Para-Tabs
Paracemol
Paracenol
Paracet
Paracetamol
Paracetamol AL
Paracetamol Antipanin P
Paracetamol BC
Paracetamol Basics
Paracetamol DC
Paracetamol Dr. Schmidgall
Paracetamol Fecofar
Paracetamol Genericon
Paracetamol Hanseler
Paracetamol Harkley
Paracetamol Heumann
Paracetamol Hexal
Paracetamol Italfarmaco
Paracetamol Nycomed
Paracetamol PB
Paracetamol Raffo
Paracetamol Ratiopharm
Paracetamol Rosch
Paracetamol Saar
Paracetamol SmithKline Beecham
Paracetamol Stada
Paracetamol Winthrop
Paracetamol von ct
Paracetamole
Paracetamolo
Paracetamolum
Paracetanol
Paracetol
Paracin
Paracod
Paracodol
Parador
Paradrops
Parakapton
Parake
Paralen
Paralief
Paralink
Paralyoc
Paramol
Paramolan
Paranox
Parapan
Parasedol
Parasin
Paraspen
Parcetol
Parelan
Parmol
Parogal
Paroma
Pasolind
Pasolind N
Pe-Tam
Pediapirin
Pediatrix
Pedric
Percocet
Percocet-5
Percocet-Demi
Percogesic with Codeine
Perdolan Mono
Perfalgan
Phenaphen
Phenaphen Caplets
Phenaphen W/Codeine
Phendon
Phenipirin
Phogoglandin
Phrenilin
Phrenilin Forte
Pinex
Piramin
Pirinasol
Plicet
Polmofen
Predimol
Predualito
Prestwick_13
Prodol
Prompt
Prontina
Propacet
Propacet 100
Proval #3
Puernol
Pulmofen
Pyregesic-C
Pyrigesic
Pyrinazine
Pyromed
Quiet World
Redutemp
Reliv
Remedol
Rhinex D-Lay Tablets
Rivalgyl
Robigesic
Robitussin Night Relief
Rockamol Plus
Rounox
Roxicet
Roxicet 5/500
Roxilox
RubieMol
Rubophen
Rupemol
SK-Apap
SPBio_002836
Salzone
Sanicet
Sanicopyrine
Scanol
Scentalgyl
Scherzatabletten Rezeptur 534
Schmerzex
Sedalito
Sedapap
Semolacin
Servigesic
Seskamol
Setakop
Setamol
Setol
Sifenol
Sinaspril
Sine-Off Sinus Medicine Caplets
Sinedol
Sinmol
Sinubid
Snaplets-FR
Spalt N
Spalt fur die nacht
St Joseph Aspirin-Free
St Joseph Aspirin-Free for Children
St. Joseph Cold Tablets for Children
St. Joseph Fever Reducer
Stanback
Stopain
Sudafed Severe Cold Formula
Sudafed Sinus
Sunetheton
Supac
Supadol mono
Supofen
Suppap
Suppap-120
Suppap-325
Suppap-650
Supramol-M
Synalgos-Dc-A
TYL
Tabalgin
Tachiprina
Talacen
Tapanol
Tapanol Extra Strength Caplets
Tapanol Extra Strength Tablets
Tapar
Tavist Allergy/Sinus/Headache
Tazamol
Temlo
Tempanal
Tempra
Tempra Caplets
Tempra Chewable Tablets
Tempra D.S
Tempra Drops
Tempra Syrup
Tencon
Termacet
Termalgin
Termalgine
Termofren
TheraFlu
Tibinide
Tibizide
Tiffy
Tisin
Tisiodrazida
Titralgan
Tizide
Tocris-1706
Toximer P
Tralgon
Treupel N
Treupel mon
Treuphadol
Triad
Triaminic Sore Throat Formula
Triaprin
Tricoton
Tussapap
Ty lenol
Tycolet
Tylenol
Tylenol (TN)
Tylenol Allergy Sinus
Tylenol Arthritis Extended Relief
Tylenol Caplets
Tylenol Children'S Chewable Tablets
Tylenol Children'S Elixir
Tylenol Children'S Suspension Liquid
Tylenol Drops
Tylenol Elixir
Tylenol Extra Strength Adult Liquid Pain Reliever
Tylenol Extra Strength Caplets
Tylenol Extra Strength Gelcaps
Tylenol Extra Strength Tablets
Tylenol Gelcaps
Tylenol Infants Drops
Tylenol Infants" Suspension Drops
Tylenol Junior Strength Caplets
Tylenol Junior Strength Chewable Tablets
Tylenol Regular Strength Caplets
Tylenol Regular Strength Tablets
Tylenol Tablets
Tylex
Tylex CD
Tylol
Tylox
Tylox-325
Tymol
Ultracet
Upsanol
Utragin
Valadol
Valgesic
Valorin
Valorin Extra
Vanquish
Veralgina
Vermidon
Verpol
Viclor Richet
Vicodin
Vicodin Es
Vicodin Hp
Vips
Viruflu
Vivimed
Volpan
Wygesic
Zatinol
Zolben
alpha-Per
p-(Acetylamino)phenol
p-Acetamidophenol
p-Acetaminophenol
p-Acetylaminophenol
p-Hydroxyacetanilide
p-Hydroxyphenolacetamide
p-acetamidophenol
p-acetaminophenol
p-hydroxyacetanilide
p-hydroxyphenolacetamide
3
PromethazinePhase 221760-87-74927
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
4
PrednisonePhase 2131853-03-25865
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
5
DiphenhydraminePhase 221758-73-1, 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
Aleryl
Alledryl
Aller-Med
Allerdryl
Allergan
Allergan B
Allergeval
Allergical
Allergina
Allergival
Allermax Caplets
Amidryl
Antistominum
Antitussive
Antomin
Automin
BENADRYL HCl
BIDD:GT0152
BPBio1_000275
BRD-K47278471-003-05-7
BRN 1914136
BSPBio_000249
BSPBio_002219
Bagodryl
Banophen
Banophen Caplets
Baramine
Beldin
Belix
Ben-allergin
Bena
Benachlor
Benadrin
Benadryl
Benadryl (hydrochloride)
Benadryl Allergy
Benapon
Bendylate
Benhydramin
Benodin
Benodine
Benylan
Benylin
Benzantin
Benzantine
Benzhydramine
Benzhydraminum
Benzhydril
Benzhydroamina
Benzhydryl
Betramin
CAS-147-24-0
CCRIS 1959
CHEBI:127629
CHEBI:4636
CHEMBL657
CID3100
CPD-10890
Compoz
D00300
DB01075
DB06975
DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE
Dabylen
Debendrin
Dermistina
Dermodrin
Desentol
Diabenyl
Diabylen
Dibendrin
Dibenil
Dibondrin
Difedryl
Difenhidramina
Difenhidramina [INN-Spanish]
Difenhydramin
Difenhydramine
Difenidramina
Difenidramina [Italian]
Dihidral
Dimedrol
Dimedrol base
Dimedrolum
Dimedryl
Dimehydrinate
Dimethylamine benzhydryl ester
Diphamine
Diphantine
Diphen
 
Diphen Cough
Diphenhist
Diphenhist Captabs
Diphenhydramine
Diphenhydramine (JP15/INN)
Diphenhydramine Base
Diphenhydramine HCl
Diphenhydramine [INN:BAN:JAN]
Diphenhydraminum
Diphenhydraminum [INN-Latin]
Diphenylhydramin
Diphenylhydramine
DivK1c_000368
Dobacen
Dormarex 2
Dryistan
Drylistan
Dylamon
EINECS 200-396-7
Etanautine
FAR 90X2
Genahist
HMS2089E06
HSDB 3066
Histaxin
Hyadrine
Hydramine
Hyrexin
I14-6749
IDI1_000368
Ibiodral
KBio1_000368
KBio2_001460
KBio2_004028
KBio2_006596
KBio3_001439
KBioGR_001099
KBioSS_001460
L000227
LS-68208
Lopac-D-3630
Lopac0_000377
MLS002222276
Medidryl
Mephadryl
MolPort-001-783-508
N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride
N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine
N-(Benzhydryloksy-etylo)dwumetyloamina
N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]
N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE
NCGC00015335-01
NCGC00015335-02
NCGC00015335-03
NCGC00015335-10
NCGC00024414-03
NCGC00024414-04
NCI60_002916
NCI60_022782
NINDS_000368
NSC665800
Nausen
Nervine Nighttime Sleep-Aid
Novamina
Nytol Quickcaps
Nytol Quickgels
O-Benzhydryldimethylaminoethanol
O-benzhydryldimethylaminoethanol
Oprea1_254625
PM 255
Prestwick0_000065
Prestwick1_000065
Prestwick2_000065
Prestwick3_000065
Probedryl
Restamin
Restamin (TN)
Rigidil
S51
SMR001307259
SPBio_000961
SPBio_002170
STK103720
STOCK2S-94461
Siladryl
Silphen
Sleep-Eze D
Sleep-Eze D Extra Strength
Spectrum2_000961
Spectrum3_000400
Spectrum4_000520
Spectrum5_000915
Spectrum_000980
Syntedril
Syntodril
TL8003758
Twilite Caplets
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
6methicillin152
7pyruvateNutraceutical34

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary HyperparathyroidismCompletedNCT00132431Phase 4
2Effects of Vaporized Marijuana on Neuropathic PainCompletedNCT01037088Phase 1, Phase 2
3Resistance Exercise in Barth SyndromeRecruitingNCT01629459Phase 2
4Rituximab in Patients With Relapsed or Refractory TTP-HUSRecruitingNCT00531089Phase 2
5PTC299 for Treatment of Neurofibromatosis Type 2SuspendedNCT00911248Phase 2
6Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down SyndromeRecruitingNCT02738450Phase 1
7Exercise Training in Barth SyndromeCompletedNCT01194141
8Prospective Study Into the Performance of the MicroPhage S. Aureus/MSSA/MRSA Test Direct From Blood Culture PositivesCompletedNCT01184339
9Heart and Muscle Metabolism in Barth SyndromeRecruitingNCT01625663
10North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
11Exercise in Genetic Cardiovascular ConditionsRecruitingNCT02549664
12Compassionate 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 225 23 TAZ

Anatomical Context for Barth Syndrome

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MalaCards organs/tissues related to Barth Syndrome:

34
Heart, Skeletal muscle, Neutrophil, Eye, Testes, Kidney, Pituitary

Animal Models for Barth Syndrome or affiliated genes

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Publications for Barth Syndrome

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Articles related to Barth Syndrome:

(show top 50)    (show all 146)
idTitleAuthorsYear
1
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. (27015085)
2016
2
Defining functional classes of Barth syndrome mutation in humans. (26908608)
2016
3
New targets for monitoring and therapy in Barth syndrome. (26845103)
2016
4
A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome. (25776009)
2015
5
The mitochondrial quality control protein yme1 is necessary to prevent defective mitophagy in a yeast model of barth syndrome. (25688091)
2015
6
Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. (26415690)
2015
7
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome. (26144817)
2015
8
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome. (25860817)
2015
9
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience. (26337810)
2015
10
Pharmacogenomic considerations in the treatment of the pediatric cardiomyopathy called Barth syndrome. (25185984)
2014
11
Clinical laboratory studies in Barth Syndrome. (24751896)
2014
12
Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation. (23523468)
2013
13
Barth syndrome in adulthood: a clinical case. (23485191)
2013
14
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. (23606313)
2013
15
Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome. (22580961)
2013
16
Advances in the understanding of Barth syndrome. (23432031)
2013
17
Barth syndrome in adulthood: a clinical case. (22999963)
2013
18
Seven functional classes of Barth syndrome mutation. (23100323)
2013
19
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. (23792436)
2013
20
Barth syndrome in a female patient. (22410210)
2012
21
Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction. (21987083)
2012
22
Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. (23031367)
2012
23
Eponym: Barth syndrome. (21947198)
2011
24
Impaired cardiac reserve and severely diminished skeletal muscle Oa88 utilization mediate exercise intolerance in Barth syndrome. (21873497)
2011
25
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. (20812380)
2010
26
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. (20303308)
2010
27
Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome. (20651830)
2010
28
Dysmorphology of Barth syndrome. (19648820)
2009
29
Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome. (19962311)
2009
30
Psychosocial Functioning in Youth with Barth Syndrome. (20808735)
2009
31
A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome. (19261493)
2009
32
Cardiomyopathy of unknown etiology: Barth syndrome unrecognized. (19037987)
2008
33
Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction. (18365900)
2008
34
Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. (18070816)
2008
35
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. (17394203)
2007
36
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. (16055927)
2006
37
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. (16906470)
2006
38
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients. (16857210)
2006
39
Characterization of lymphoblast mitochondria from patients with Barth syndrome. (15806137)
2005
40
Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. (16235007)
2005
41
Barth syndrome without 3-methylglutaconic aciduria. (15124852)
2004
42
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. (15098233)
2004
43
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. (11118295)
2000
44
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. (10484787)
1999
45
X chromosome inactivation in carriers of Barth syndrome. (9792874)
1998
46
Barth syndrome may be due to an acyltransferase deficiency. (9259571)
1997
47
Mutation characterization and genotype-phenotype correlation in Barth syndrome. (9345098)
1997
48
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. (8739954)
1996
49
Barth syndrome: clinical observations and genetic linkage studies. (8042670)
1994
50
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. (1998334)
1991

Variations for Barth Syndrome

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

68
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 28)
id Gene Variation Type Significance SNP ID Assembly Location
1TAZTAZ, IVS2AS, G-A, -1single nucleotide variantPathogenic
2TAZNM_000116.4(TAZ): c.153C> G (p.Tyr51Ter)single nucleotide variantPathogenicrs104894941GRCh37Chr X, 153640466: 153640466
3TAZTAZ, IVS2AS, G-C, -1single nucleotide variantPathogenic
4TAZTAZ, 1-BP INS, NT868insertionPathogenic
5TAZTAZ, 1-BP DELdeletionPathogenic
6TAZNM_000116.4(TAZ): c.589G> A (p.Gly197Arg)single nucleotide variantPathogenicrs132630277GRCh37Chr X, 153648376: 153648376
7TAZTAZ, IVS1DS, G-C, +5single nucleotide variantPathogenic
8TAZTAZ, IVS3DS, G-A, +110single nucleotide variantPathogenic
9TAZNM_000116.4(TAZ): c.352T> C (p.Cys118Arg)single nucleotide variantPathogenicrs104894937GRCh37Chr X, 153641886: 153641886
10TAZTAZ, IVS1AS, A-G, -2single nucleotide variantPathogenic
11TAZNM_000116.4(TAZ): c.280C> A (p.Arg94Ser)single nucleotide variantPathogenicrs104894942GRCh37Chr X, 153641585: 153641585
12TAZTAZ, 4-BP DEL, AGTGdeletionPathogenic
13TAZNM_000116.4(TAZ): c.647-1G> Csingle nucleotide variantPathogenicrs587776741GRCh37Chr X, 153648550: 153648550
14TAZNM_000116.4(TAZ): c.347G> A (p.Gly116Asp)single nucleotide variantLikely pathogenicrs727504327GRCh37Chr X, 153641881: 153641881
15NC_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)single nucleotide variantLikely pathogenicrs727504431GRCh37Chr X, 153648551: 153648551
18TAZNM_000116.4(TAZ): c.227C> G (p.Pro76Arg)single nucleotide variantLikely pathogenicrs878853654GRCh38Chr X, 154412203: 154412203
19TAZNM_000116.4(TAZ): c.460+1G> Asingle nucleotide variantLikely pathogenicrs878853655GRCh38Chr X, 154414191: 154414191
20TAZNM_000116.4(TAZ): c.718G> A (p.Gly240Arg)single nucleotide variantPathogenicrs387907218GRCh37Chr X, 153649015: 153649015
21TAZNM_000116.4(TAZ): c.208C> T (p.Gln70Ter)single nucleotide variantLikely pathogenicrs397515738GRCh37Chr X, 153640521: 153640521
22TAZNM_000116.4(TAZ): c.328T> C (p.Ser110Pro)single nucleotide variantLikely pathogenicrs397515739GRCh37Chr X, 153641862: 153641862
23TAZNM_000116.4(TAZ): c.307T> C (p.Cys103Arg)single nucleotide variantLikely pathogenicrs397515740GRCh37Chr X, 153641841: 153641841
24TAZNM_000116.4(TAZ): c.310T> C (p.Phe104Leu)single nucleotide variantPathogenicrs397515741GRCh37Chr X, 153641844: 153641844
25TAZNM_000116.4(TAZ): c.590G> A (p.Gly197Glu)single nucleotide variantLikely pathogenicrs397515746GRCh37Chr X, 153648377: 153648377
26TAZNM_000116.4(TAZ): c.700-1G> Asingle nucleotide variantLikely pathogenicrs397515747GRCh37Chr X, 153648996: 153648996
27TAZNM_000116.4(TAZ): c.718G> C (p.Gly240Arg)single nucleotide variantPathogenicrs387907218GRCh37Chr X, 153649015: 153649015
28TAZNM_000116.4(TAZ): c.823C> T (p.Gln275Ter)single nucleotide variantLikely 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
19.0DNAJC19, 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
1sarcolemmaGO:00423839.8ANXA5, DTNA
2Z discGO:00300189.7ANXA5, LDB3
3protein complexGO:00432348.9DNAJC19, DTNA, TTR
4mitochondrionGO:00057398.1DBT, DNAJC19, PLA2G6, TAZ, TOMM40

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

idNameGO IDScoreTop Affiliating Genes
1cardiolipin biosynthetic processGO:00320499.5PLA2G6, TAZ
2protein targeting to mitochondrionGO:00066269.3DNAJC19, TOMM40

Sources for Barth Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet