ORPHA:111
Barth syndrome
Synonyms: 3-methylglutaconic aciduria type 2 · BTHS · Cardioskeletal myopathy with neutropenia and abnormal mitochondria · Cardioskeletal myopathy-neutropenia syndrome · MGA2 · X-linked cardioskeletal myopathy and neutropenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Barth syndrome | 3-methylglutaconic aciduria type 2 · BTHS · Cardioskeletal myopathy with neutropenia and abnormal mitochondria · Cardioskeletal myopathy-neutropenia syndrome · MGA2 · X-linked cardioskeletal myopathy and neutropenia |
| fr | Syndrome de Barth | Acidurie 3-méthylglutaconique type 2 · BTHS · MGA2 · Myopathie cardioquelettique et neutropénie liée à l'X · Syndrome de myopathie cardiosquelettique-neutropénie |
| de | Barth-Syndrom | 3-Methylglutaconazidurie Typ 2 · BTHS · Kardioskelettale Myopathie - Neutropenie, X-chromosomal · Kardioskelettale Myopathie-Neutropenie-Syndrom · MGA2 · X-chromosomale kardioskelettale Myopathie und Neutropenie |
| es | Síndrome de Barth | Aciduria 3-metilglutacónica tipo 2 · BTHS · MGA2 · Miopatía cardioesquelética con neutropenia y mitocondria anómala · Miopatía cardioesquelética ligada al cromosoma X y neutropenia · Síndrome de miopatía cardioesquelética-neutropenia |
| it | Sindrome di Barth | Aciduria 3-metilglutaconica, tipo 2 · BTHS · MGA2 · Miopatia cardioscheletrica con neutropenia e difetti mitocondriali · Miopatia cardioscheletrica e neutropenia, legata all'X · Sindrome miopatia cardioscheletrica-neutropenia |
| nl | Syndroom van Barth | 3-methylglutaconacidurie type 2 · BTHS · Cardioskeletale myopathie - neutropenie-syndroom · Cardioskeletale myopathie met neutropenie en abnormale mitochondriën · MGA2 · X-gebonden cardioskeletale myopathie en neutropenie |
| pt | Síndrome Barth | AGM2 · Acidúria 3-metilglutacónica tipo 2 · BTHS · Miopatia cardio-esquelética-neutropenia |
| pl | Zespół Bartha | Acyduria 3-metyloglutakonowa typu 2 · BTHS · MGA2 · Miopatia sercowo-szkieletowa - neutropenia · Miopatia sercowo-szkieletowa sprzężona z chromosomem X z neutropenią · Miopatia sercowo-szkieletowa z neutropenią i nieprawidłowe mitochondria |
| cs | Barthův syndrom | 3-methylglutakonová acidurie, typ 2 · BTHS · Kardioskeletální myopatie s neutropenií a abnormálními mitochondriemi · Syndrom zahrnující kardioskeletální myopatii a neutropenii · MGA2 · X-vázaná kardioskeletální myopatie a neutropenie |
| uk | Синдром Барта | 3-метилглутаконова ацидурія типу 2 · BTHS · Серцево-судинна міопатія з нейтропенією та аномальними мітохондріями · Синдром кардіоскелетної міопатії-нейтропенії · MGA2 · Х-зчеплена серцево-скелетна міопатія та нейтропенія |
| zh | Barth综合征 | 心脏骨骼肌肌病伴中性粒细胞减少和异常线粒体 |
| tr | Barth sendromu | BTHS · MGA2 · 3-metilglutakonik asidüri tip 2 · Kardiyoskeletal miyopati-nötropeni sendromu · X'e bağlı kardiyoskeletal miyopati ve nötropeni · Nötropeni ve anormal mitokondri ile seyreden kardiyoskeletal miyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302060 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0010543 | E | validated | |
| MeSH | D056889 | E | validated | |
| UMLS | C0574083 | E | validated | |
| GARD | 5890 | E | validated | |
| MedDRA | 10078537 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:2899023-methylglutaconic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:352312Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217613Mitochondrial disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TAFAZZIN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11577 | ENSG00000102125 | 300394 | Xq28 | tafazzin, phospholipid-lysophospholipid transacylase | 23843353[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.22 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 / 100 000 | United States | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 / 100 000 | France | Value and class | Validated | 23656970[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.71 / 100 000 | United Kingdom | Value and class | Validated | 23398819[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
40 annotations · validated 2025-12-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0003756 | Skeletal myopathy | |
| Frequent (79-30%) | ||
| HP:0003344 | 3-Methylglutaric aciduria | |
| HP:0000739 | Anxiety | |
| HP:0011675 | Arrhythmia | |
| HP:0000337 | Broad forehead | |
| HP:0031085 | Decreased circulating prealbumin concentration | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0000490 | Deeply set eye | |
| HP:0002194 | Delayed gross motor development | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:6000517 | Elevated monolysocardiolipin/cardiolipin ratio | Pathognomonic sign |
| HP:0001706 | Endocardial fibroelastosis | |
| HP:0003546 | Exercise intolerance | |
| HP:0000293 | Full cheeks | |
| HP:0003146 | Hypocholesterolemia | |
| HP:0001252 | Hypotonia | |
| HP:0012311 | Increased total monocyte count | |
| HP:0003128 | Lactic acidosis | |
| HP:0001324 | Muscle weakness | |
| HP:0000155 | Oral ulcer | |
| HP:0000307 | Pointed chin | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0005184 | Prolonged QTc interval | |
| HP:0000311 | Round face | |
| HP:0033454 | Tube feeding | |
| Occasional (29-5%) | ||
| HP:0012532 | Chronic pain | |
| HP:0000716 | Depression | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001789 | Hydrops fetalis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0004914 | Recurrent infantile hypoglycemia | |
| HP:0002650 | Scoliosis | |
| HP:0001699 | Sudden death | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25299040[PMID]_34197965[PMID]_39404727[PMID]_40282425[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/111
- This record as JSON: /data/d/111.json