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Disease Profile
Premature aging Okamoto type
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
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ICD-10
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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)
Premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay
Categories
Hereditary Cancer Syndromes
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ] |
0001595 |
Abnormality of blood and blood-forming |
0001871 | |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
0000007 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
0000819 | ||
Growth abnormality |
Abnormal growth
Growth issue
[ more ] |
0001507 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Neoplasm | 0002664 | |
0000939 | ||
Osteosarcoma |
Bone cell cancer
|
0002669 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Levoleucovorin(Brand name: Fusilev™) Manufactured by Spectrum Pharmaceuticals, Inc.
FDA-approved indication: Levoleucovorin rescue is indicated after high-dose methotrexate therapy in osteosarcoma. Levoleucovorin is also indicated to diminish the toxicity and counteract the effects of impaired methotrexate elimination and of inadvertent overdosage of folic acid
National Library of Medicine Drug Information Portal - Leucovorin(Brand name: Leucovorin calcium®) Manufactured by Bedford Laboratories
FDA-approved indication: For rescue use after high dose methotrexate therapy in the treatment of osteosarcoma.
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Methotrexate sodium(Brand name: Methotrexate) Manufactured by Lederle Laboratories
FDA-approved indication: For the use of high dose methotrexate with leucovorin rescue in patients with non-metastatic osteosarcoma who have undergone surgical resection or amputation for the primarytumor .
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Premature aging Okamoto type. Click on the link to view a sample search on this topic.