| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (30.8%) |
7856638 |
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? Bird LM, Krous HF, Eichenfield LF, Swalwell CI, Jones MC. Am J Med Genet. 1994;53(2):141-8. |
| Microphthalmia Short palpebral fissure | ||
| Cardiomyopathies Females Homo sapiens Infant Male Microphthalmos Skin Abnormalities Syndrome X Chromosome | ||
| 2 (17.5%) |
25130767 |
Sudden death in a 15-year-old with diffuse cardiac rhabdomyomatosis: an autopsy case report. Fuller MY, Wolf DA, Buja LM. Cardiovasc Pathol. 2014;23(6):351-3. |
| Cardiomyopathy Cardiac rhabdomyoma | ||
| Autopsy Cardiomyopathies Differential Diagnosis Females Fibrosis Heart Neoplasm Heart Ventricle Homo sapiens Rhabdomyoma Sudden Cardiac Death | ||
| 2 (17.5%) |
15164143 |
A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. Vallance HD, Jeven G, Wallace DC, Brown MD. Pediatr Cardiol. 2004;25(5):538-40. |
| Failure to thrive Myopathy | ||
| g|SUB|A|8344|G rs118192098 | ||
| Cardiomyopathies DNA Mutational Analysis DNA, Mitochondrial Fatal Outcome Females Homo sapiens Infant Mitochondria, Heart Mitochondrial Myopathies Myocardium | ||
| 2 (17.5%) |
9619605 |
Hamartoma of mature cardiac myocytes: a case report. Sturtz CL, Abt AB, Leuenberger UA, Damiano R. Mod Pathol. 1998;11(5):496-9. |
| Hypertension Rhabdomyoma | ||
| Adult Cardiomyopathies Cellular Senescence Echocardiography, Transesophageal Electron Microscopy Hamartoma Homo sapiens Male Myocardium | ||
| 2 (17.5%) |
3181957 |
Oncocytic cardiomyopathy syndrome. Franciosi RA, Singh A. Hum Pathol. 1988;19(11):1361-2. |
| Cardiac rhabdomyoma | ||
| Congenital Heart Defects Females Heart Neoplasm Homo sapiens Infant, Newborn Syndrome | ||
| 2 (17.5%) |
2162615 |
Unexpected infant death attributable to cardiac tumor or cardiomyopathy. Immunohistochemical and electron microscopical findings in three cases. Jacob B, Haarhoff K, Neuen-Jacob E, Burrig KF, Frenzel H, Rammos S, Bonte W. Z Rechtsmed. 1990;103(5):335-43. |
| Cardiomyopathy Rhabdomyoma | ||
| DES GFAP MYH14 | ||
| Astrocytoma Biomarkers, Tumor Brain Brain Neoplasms Cardiomyopathies Cause of Death Electron Microscopy Females Heart Neoplasm Histiocytoma, Benign Fibrous Histiocytosis Homo sapiens Immunohistochemistry Infant Male Myocardium Neoplasms, Multiple Primary Rhabdomyoma Tuberous Sclerosis | ||
| 7 (4.0%) |
28939283 |
Histiocytoid cardiomyopathy and ventricular noncompaction presenting as sudden death in an adult male. Val-Bernal JF, Mayorga M, Ortega C, Linares E. Pathol Res Pract. 2017;213(11):1424-1430. |
| Cardiomyopathy | ||
| Cardiomyopathies Heart Heart Ventricle Homo sapiens Male Middle Aged Myocardium | ||
| 7 (4.0%) |
28045696 |
Sudden Death in a Male Infant Due to Histiocytoid Cardiomyopathy: An Autopsy Case and Review of the Literature. Xie H, Chen X, Chen N, Zhou Q. Am J Forensic Med Pathol. 2017;38(1):32-34. |
| Ventricular tachycardia | ||
| Cardiomyopathies Electron Microscopy Electron Transport Complex III Endocardium Homo sapiens Infant Liver Lung Male Pulmonary Edema | ||
| 7 (4.0%) |
27102574 |
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R. Clin Genet. 2017;91(3):441-447. |
| Microphthalmia | ||
| Acidosis, Lactic Child DNA, Mitochondrial Electron Transport Complex I Genetic Predisposition to Disease Homo sapiens Male Microphthalmos Mutation Phenotype Tyrosine-tRNA Ligase | ||
| 7 (4.0%) |
24438356 |
The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby. Cataldo S, Annoni GA, Marziliano N. Cardiol Young. 2015;25(1):174-6. |
| Wolff-Parkinson-White syndrome | ||
| CACNA2D1 RANGRF | ||
| Alleles Calcium Channel Cardiomyopathies DNA DNA Mutational Analysis Electron Transport Complex III Electrophysiologic Techniques, Cardiac Females Homo sapiens Infant, Newborn Mutation ran GTP-Binding Protein |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0011675 | Arrhythmia | 4 |
| HP:0000568 | Microphthalmia | 3 |
| HP:0010566 | Hamartoma | 3 |
| HP:0001638 | Cardiomyopathy | 2 |
| HP:0001716 | Wolff-Parkinson-White syndrome | 2 |
| HP:0009729 | Cardiac rhabdomyoma | 2 |
| HP:0001645 | Sudden cardiac death | 1 |
| HP:0001695 | Cardiac arrest | 1 |
| HP:0003128 | Lactic acidosis | 1 |
| HP:0009730 | Rhabdomyoma | 1 |
| HP:0010617 | Cardiac fibroma | 1 |