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Disease Profile
Infantile histiocytoid cardiomyopathy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Infancy
ICD-10
I42.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Infantile xanthomatous cardiomyopathy; Focal lipid cardiomyopathy; Oncocytic cardiomyopathy;
Categories
Congenital and Genetic Diseases; Heart Diseases
Summary
Orpha Number: 137675
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Ventricular tachycardia | 0004756 | |
5%-29% of people have these symptoms | ||
Atrioventricular block |
Interruption of electrical communication between upper and lower chambers of heart
|
0001678 |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Cough |
Coughing
|
0012735 |
Cyanosis |
Blue discoloration of the skin
|
0000961 |
Drowsiness |
Sleepy
|
0002329 |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fever | 0001945 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Junctional ectopic tachycardia | 0011716 | |
Pallor | 0000980 | |
Right bundle branch block | 0011712 | |
Stroke-like episode | 0002401 | |
Tachypnea |
Increased respiratory rate or depth of breathing
|
0002789 |
Vomiting |
Throwing up
|
0002013 |
Wolff-Parkinson-White |
0001716 | |
1%-4% of people have these symptoms | ||
Agenesis of |
0001274 | |
Atrial fibrillation |
Quivering upper heart chambers resulting in irregular heartbeat
|
0005110 |
Atrial flutter | 0004749 | |
Cerebellar malformation | 0002438 | |
Cleft roof of mouth
|
0000175 | |
0007707 | ||
Corneal opacity | 0007957 | |
Hemiplegia |
Paralysis on one side of body
|
0002301 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Low blood sugar
|
0001943 | |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Laryngeal web | 0005950 | |
Lethargy | 0001254 | |
Loss of consciousness |
Passing out
|
0007185 |
Megalocornea |
Enlarged cornea
|
0000485 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Optic atrophy | 0000648 | |
Polycystic ovaries | 0000147 | |
Pulmonary edema |
Excess fluid in lungs
Wet lung
[ more ] |
0100598 |
Renal cyst |
Kidney cyst
|
0000107 |
0001250 | ||
Shortened PR interval | 0005165 | |
Thromboembolism | 0001907 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Infantile histiocytoid cardiomyopathy. Click on the link to view a sample search on this topic.