eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| endocardial fibroelastosis | ||||
| Disease ID | 548 |
|---|---|
| Disease | endocardial fibroelastosis |
| Definition | A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis. |
| Synonym | efe efe - endocardial fibroelastosis elastomyofibrosis endocard fibroelastosis endocardial fibroelastoses endocardial fibroelastosis (disorder) endocardial fibroelastosis [disease/finding] endomyocardial fibroelastosis fibroelastoses, endocardial fibroelastosis, endocardial fibroelastosis, endocardium |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0014117 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0878544 | cardiomyopathy | 4 C0007193 | dilated cardiomyopathy | 3 C0024586 | carcinoid syndrome | 1 C0026266 | mitral insufficiency | 1 C0152101 | hypoplastic left heart | 1 C0018801 | heart failure | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 88 | ACTN2 | 3.048 | DISEASES 501 | ALDH7A1 | 1.361 | DISEASES 284 | ANGPT1 | 1.352 | DISEASES 23607 | CD2AP | 1.284 | DISEASES 1025 | CDK9 | 1.438 | DISEASES 1280 | COL2A1 | 1.551 | DISEASES 78987 | CRELD1 | 2.848 | DISEASES 2170 | FABP3 | 2.47 | DISEASES 9846 | GAB2 | 2.177 | DISEASES 2885 | GRB2 | 1.464 | DISEASES 3155 | HMGCL | 2.843 | DISEASES 259307 | IL4I1 | 2.296 | DISEASES 4519 | MT-CYB | 3.144 | DISEASES 4625 | MYH7 | 1.742 | DISEASES 10529 | NEBL | 4.402 | DISEASES 6540 | SLC6A13 | 2.023 | DISEASES 6693 | SPN | 1.283 | DISEASES 6738 | TROVE2 | 2.058 | DISEASES 7791 | ZYX | 1.147 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 548 |
|---|---|
| Disease | endocardial fibroelastosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0001635 | Congestive heart failure HP:0000028 | Cryptorchidism HP:0001999 | Facial dysmorphism HP:0000707 | Neurological abnormality HP:0001706 | Endocardial fibroelastosis HP:0001638 | Cardiomyopathy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) |
| Disease ID | 548 |
|---|---|
| Disease | endocardial fibroelastosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000707 | Abnormality of the nervous system | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000707 | Abnormality of the nervous system | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001706 | Endocardial fibroelastosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| Disease ID | 548 |
|---|---|
| Disease | endocardial fibroelastosis |
| Case | (Waiting for update.) |