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Disease Profile
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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
Adolescent
ICD-10
E75.2
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)
PLOSL; Nasu-Hakola disease; NHD;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Orpha Number: 2770
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 | ||
Abnormal adipose |
Abnormality of adipose tissue
Abnormality of fat tissue
Abnormality of fatty tissue
[ more ] |
0009124 |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Arthralgia |
Joint pain
|
0002829 |
Bone cyst |
Bone cysts
|
0012062 |
Bone pain | 0002653 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Disinhibition | 0000734 | |
Frontal lobe |
0000727 | |
Irritability |
Irritable
|
0000737 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Personality changes |
Personality change
|
0000751 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Skeletal dysplasia | 0002652 | |
Ventriculomegaly | 0002119 | |
30%-79% of people have these symptoms | ||
Agnosia | 0010524 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Chorea | 0002072 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Oculomotor apraxia | 0000657 | |
0001250 | ||
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
5%-29% of people have these symptoms | ||
Acute leukemia | 0002488 | |
Functional abnormality of the gastrointestinal tract | 0012719 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
Abnormal upper motor neuron morphology |
Abnormal shape of upper motor neuron
|
0002127 |
Abnormality of the hand |
Abnormal hands
Hand anomalies
Hand deformities
[ more ] |
0001155 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Apraxia | 0002186 | |
0000007 | ||
Axonal loss | 0003447 | |
Babinski sign | 0003487 | |
Basal ganglia calcification | 0002135 | |
Caudate atrophy | 0002340 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
0002353 | ||
Euphoria | 0031844 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Gliosis | 0002171 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Inappropriate behavior | 0000719 | |
Lack of insight | 0000757 | |
Leukoencephalopathy | 0002352 | |
Myoclonus | 0001336 | |
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Peripheral demyelination | 0011096 | |
Primitive reflex | 0002476 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
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
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Click on the link to view a sample search on this topic.