ORPHA:137675
Histiocytoid cardiomyopathy
Synonyms: Foamy myocardial transformation of infancy · Infantile cardiomyopathy with histiocytoid change · Infantile xanthomatous cardiomyopathy · Oncocytic cardiomyopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Unknown, X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Histiocytoid cardiomyopathy | Foamy myocardial transformation of infancy · Infantile cardiomyopathy with histiocytoid change · Infantile xanthomatous cardiomyopathy · Oncocytic cardiomyopathy |
| fr | Cardiomyopathie histiocytoïde | Cardiomyopathie oncocytique · Cardiomyopathie xanthomateuse infantile |
| de | Kardiomyopathie, histiozytoide | Kardiomyopathie mit histiozytären Veränderungen, infantile Form · Kardiomyopathie, onkozytische · Kardiomyopathie, xanthomatöse, infantile Form |
| es | Miocardiopatía histiocitoide | Cardiomiopatía histiocitoide · Miocardiopatia infantil con cambios histiocitoides · Miocardiopatía oncocítica · Miocardiopatía xantomatosa infantil · Transformacion miocárdica espumosa de la infancia |
| it | Cardiomiopatia istiocitoide | Cardiomiopatia oncocitica · Cardiomiopatia xantomatosa infantile |
| nl | Histiocytoïde cardiomyopathie | Foamy myocardtransformatie in de kinderjaren · Infantiele cardiomyopathie met histiocytoïde verandering · Infantiele xanthomateuze cardiomyopathie · Oncocytische cardiomyopathie |
| pt | Miocardiopatia histiocitóide | |
| pl | Kardiomiopatia histiocytarna | Dziecięca kardiomiopatia ksantynowa · Dziecięca kardiomiopatia ze zmianami histiocytarnymi · Kardiomiopatia onkocytarna · Spienione przekształcenie mięśnia sercowego u niemowląt |
| cs | Histiocytoidní kardiomyopatie | Infantilní xantomatózní kardiomyopatie · Onkocytická kardiomyopatie · Infantilní kardiomyopatie s histiocytoidními změnami |
| uk | Гістіоцитоїдна кардіоміопатія | Піниста трансформація міокарда в дитячому віці · Дитяча кардіоміопатія з гістіоцитоїдними змінами · Дитяча ксантоматозна кардіоміопатія · Онкоцитарна кардіоміопатія |
| zh | 组织细胞样心肌病 | 婴幼儿心肌病伴组织细胞样变 |
| tr | Histiyositoid kardiyomiyopati | Onkositik kardiyomiyopati · İnfantil ksantomatöz kardiyomiyopati · Bebeklik dönemi köpüklü miyokardiyal dönüşümü · Histiyositoid değişiklik ile seyreden infantil kardiyomiyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212080 | BTNT | validated | |
| OMIM | 500000 | E | validated | |
| ICD-10 | I42.0 | NTBT | attributed | validated |
| ICD-11 | BC43.00 | NTBT | index | validated |
| MONDO | 0010771 | E | validated | |
| MeSH | C535584 | E | validated | |
| UMLS | C1708371 | E | validated | |
| GARD | 9511 | 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 (3):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:217613Mitochondrial disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:254837Unspecified mitochondrial disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-CYB | Candidate gene tested in | Not yet assessed | HGNC:7427 | ENSG00000198727 | 516020 | mitochondria | mitochondrially encoded cytochrome b | 10960495[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25921236[PMID]_ORPHANET |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 25921236[PMID] |
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
44 annotations · validated 2019-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001649 | Tachycardia | |
| Frequent (79-30%) | ||
| HP:0004755 | Supraventricular tachycardia | |
| HP:0004756 | Ventricular tachycardia | |
| Occasional (29-5%) | ||
| HP:0001678 | Atrioventricular block | |
| HP:0001640 | Cardiomegaly | |
| HP:0001635 | Congestive heart failure | |
| HP:0012735 | Cough | |
| HP:0000961 | Cyanosis | |
| HP:0002329 | Drowsiness | |
| HP:0003546 | Exercise intolerance | |
| HP:0001508 | Failure to thrive | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0011716 | Junctional ectopic tachycardia | |
| HP:0000980 | Pallor | |
| HP:0011712 | Right bundle branch block | |
| HP:0002401 | Stroke-like episode | |
| HP:0002789 | Tachypnea | |
| HP:0002013 | Vomiting | |
| HP:0001716 | Wolff-Parkinson-White syndrome | |
| Very rare (<4-1%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0005110 | Atrial fibrillation | |
| HP:0004749 | Atrial flutter | |
| HP:0002438 | Cerebellar malformation | |
| HP:0000175 | Cleft palate | |
| HP:0007707 | Congenital aphakia | |
| HP:0007957 | Corneal opacity | |
| HP:0002301 | Hemiplegia | |
| HP:0000238 | Hydrocephalus | |
| HP:0001943 | Hypoglycemia | |
| HP:0003128 | Lactic acidosis | |
| HP:0005950 | Laryngeal web | |
| HP:0001254 | Lethargy | |
| HP:0007185 | Loss of consciousness | |
| HP:0000485 | Megalocornea | |
| HP:0000568 | Microphthalmia | |
| HP:0000648 | Optic atrophy | |
| HP:0000147 | Polycystic ovaries | |
| HP:0100598 | Pulmonary edema | |
| HP:0000107 | Renal cyst | |
| HP:0001250 | Seizure | |
| HP:0005165 | Shortened PR interval | |
| HP:0001907 | Thromboembolism | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 7942464[PMID]_27504452[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137675
- This record as JSON: /data/d/137675.json