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Disease Profile

Lowe oculocerebrorenal syndrome

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

OCRL; OCRL1; Lowe syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases;

Summary

Lowe oculocerebrorenal syndrome is a rare condition that primarily affects the eyes, central nervous system and kidneys. Some of the signs and symptoms associated with the condition are often present from birth, including congenital cataracts and other eye abnormalities; hypotonia (reduced muscle tone); and feeding difficulties. Affected people may also experience kidney problems (such as Fanconi syndrome), infantile glaucoma, impaired vision, developmental delay, intellectual disability, behavioral problems, seizures and short stature.[1][2][3] Lowe oculocerebrorenal syndrome occurs almost exclusively in males. The condition is caused by changes (mutations) in the OCRL and is inherited in an X-linked recessive manner.[1][2] Treatment is based on the signs and symptoms present in each person.[2][3]

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.

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.
    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
    Cataract
    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
    Intellectual disability
    Mental deficiency
    Mental retardation
    Mental retardation, nonspecific
    Mental-retardation

    [ more ]

    0001249
    Neonatal hypotonia
    Low muscle tone, in neonatal onset
    0001319
    Nystagmus
    Involuntary, rapid, rhythmic eye movements
    0000639
    Proteinuria
    High urine protein levels
    Protein in urine

    [ more ]

    0000093
    Proximal renal tubular acidosis
    0002049
    Renal insufficiency
    Renal failure
    Renal failure in adulthood

    [ more ]

    0000083
    Short stature
    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 hormone level
    0100530
    Arthritis
    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 neoplasm of the central nervous system
    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
    EEG abnormality
    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
    Scoliosis
    0002650
    Seizure
    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
    Thrombocytopenia
    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

      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

            1. Lowe syndrome. Genetics Home Reference. November 2013; https://ghr.nlm.nih.gov/condition/lowe-syndrome.
            2. 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.
            3. Deborah M Alcorn, MD. Oculocerebrorenal Syndrome. Medscape Reference. December 2014; https://emedicine.medscape.com/article/1214184-overview.

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