Rare Endocrinology News
Disease Profile
Infantile myofibromatosis
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.
Unknown
Age of onset
Infancy
ICD-10
D48.1
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
Categories
Congenital and Genetic Diseases; Nervous System Diseases; Rare Cancers;
Summary
Orpha Number: 2591
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Abnormality of the musculature |
Muscular abnormality
|
0003011 |
Bone cyst |
Bone cysts
|
0012062 |
Skin tumors
Tumor of the skin
[ more ] |
0008069 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
30%-79% of people have these symptoms | ||
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ] |
0001595 |
Abnormal skull morphology |
Abnormality of the skull
|
0000929 |
Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
Chondrocalcinosis |
Calcium deposits in joints
|
0000934 |
Gingival fibromatosis | 0000169 | |
Neoplasm of the lung |
Lung tumor
|
0100526 |
5%-29% of people have these symptoms | ||
Abnormal sacrum morphology | 0005107 | |
Abnormality of the eye |
Abnormal eye
|
0000478 |
Abnormality of the kidney |
Abnormal kidney
|
0000077 |
Benign neoplasm of the |
0100835 | |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ] |
0003072 |
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ] |
0005214 |
Irregular hyperpigmentation | 0007400 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Neoplasm of the pancreas |
Cancer of the pancreas
Pancreatic tumor
[ more ] |
0002894 |
Osteolysis |
Breakdown of bone
|
0002797 |
Skin ulcer |
Open skin sore
|
0200042 |
Tracheoesophageal fistula | 0002575 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of connective |
0003549 | |
0000006 | ||
Fibroma | 0010614 |
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 myofibromatosis. Click on the link to view a sample search on this topic.