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Disease Profile
Lowe oculocerebrorenal syndrome
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.
1-9 / 1 000 000
Age of onset
Neonatal
ICD-10
E72.0
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)
OCRL; OCRL1; Lowe syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;
Summary
Lowe oculocerebrorenal
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 pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ] |
0000615 |
Abnormal renal tubule morphology | 0000091 | |
Abnormality of the voice |
Voice abnormality
|
0001608 |
Amblyopia |
Lazy eye
Wandering eye
[ more ] |
0000646 |
Aminoaciduria |
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] |
0003355 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Areflexia |
Absent tendon reflexes
|
0001284 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Dehydration | 0001944 | |
Depressivity |
Depression
|
0000716 |
Dysphasia | 0002357 | |
Glomerulopathy | 0100820 | |
Hypercalciuria |
Elevated urine calcium levels
|
0002150 |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Proximal renal tubular acidosis | 0002049 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
30%-79% of people have these symptoms | ||
Abnormal calcium-phosphate regulating |
0100530 | |
Joint inflammation
|
0001369 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Benign |
0100835 | |
Buphthalmos |
Enlarged eyeball
|
0000557 |
Clonus | 0002169 | |
Constipation | 0002019 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
0002353 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties in infancy | 0008872 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Frontal bossing | 0002007 | |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Generalized hypopigmentation |
Fair skin
Pale pigmentation
[ more ] |
0007513 |
Hyperparathyroidism |
Elevated blood parathyroid hormone level
|
0000843 |
Hypokalemia |
Low blood potassium levels
|
0002900 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Joint swelling | 0001386 | |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Low levels of vitamin D |
Deficient in vitamin D
Vitamin D deficiency
[ more ] |
0100512 |
Low-set, posteriorly rotated ears | 0000368 | |
Neoplasm of the skin |
Skin tumors
Tumor of the skin
[ more ] |
0008069 |
Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
Osteomalacia |
Softening of the bones
|
0002749 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
0002650 | ||
0001250 | ||
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
Low platelet count
|
0001873 | |
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes Dent disease type 2 (an allelic disease with a milder phenotype), congenital infections (such as congenital rubella syndrome), Nance-Horan syndrome, Smith-Lemli-Opitz syndrome, muscle-eye-brain disease, cystinosis and peroxisomal disorders.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Lowe Syndrome Association
PO Box 417
Chicago Ridge, IL 60415
Telephone: 216-630-7723
Website: https://www.lowesyndrome.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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 Lowe Syndrome Association offers an information page on Lowe oculocerebrorenal syndrome. Please click on the link to access this resource.
- Genetics Home Reference (GHR) contains information on Lowe oculocerebrorenal syndrome. This website is maintained by the National Library of Medicine.
- 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
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Lowe oculocerebrorenal syndrome. Click on the link to view a sample search on this topic.
References
- Lowe syndrome. Genetics Home Reference. November 2013; https://ghr.nlm.nih.gov/condition/lowe-syndrome.
- Richard Alan Lewis, MD, MS, Robert L Nussbaum, MD, and Eileen D Brewer, MD. Lowe Syndrome. GeneReviews. February 2012; https://www.ncbi.nlm.nih.gov/books/NBK1480.
- Deborah M Alcorn, MD. Oculocerebrorenal Syndrome. Medscape Reference. December 2014; https://emedicine.medscape.com/article/1214184-overview.
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