Lowe oculocerebrorenal syndrome

Información en español Title

Other Names:

OCRL; OCRL1; Lowe syndrome; OCRL; OCRL1; Lowe syndrome; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency; Oculocerebrorenal syndrome See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases; Metabolic disorders; Nervous System Diseases See More

Summary 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]

Last updated: 3/13/2016

Symptoms 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.

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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
Ventriculomegaly		0002119
5%-29% of people have these symptoms
Abnormality of dental enamel	Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ]	0000682
Abnormality of epiphysis morphology	Abnormal shape of end part of bone	0005930
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Abnormality of the ribs	Rib abnormalities	0000772
Anemia	Low number of red blood cells or hemoglobin	0001903
Atelectasis	Partial or complete collapse of part or entire lung	0100750
Atypical scarring of skin	Atypical scarring	0000987
Azoospermia	Absent sperm in semen	0000027
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Cheilitis	Inflammation of the lips	0100825
Chorioretinal dysplasia		0007731
Chronic otitis media	Chronic infections of the middle ear	0000389
Corneal opacity		0007957
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
Deep philtrum		0002002
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
Delayed puberty	Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ]	0000823
Dental crowding	Crowded teeth Dental overcrowding Overcrowding of teeth [ more ]	0000678
Diabetes insipidus		0000873
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Flat occiput		0005469
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Genu valgum	Knock knees	0002857
Gingivitis	Inflamed gums Red and swollen gums [ more ]	0000230
Hematuria	Blood in urine	0000790
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hyperaldosteronism	Elevated plasma aldosterone Increased aldosterone Increased aldosterone production [ more ]	0000859
Hypercholesterolemia	Elevated serum cholesterol Elevated total cholesterol Increased total cholesterol [ more ]	0003124
Hypoammonemia		0100493
Hypophosphatemia	Low blood phosphate level	0002148
Increased serum lactate		0002151
Inguinal hernia		0000023
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Kyphosis	Hunched back Round back [ more ]	0002808
Lacrimation abnormality	Abnormality of tear production	0000632
Lentiglobus		0011527
Long philtrum		0000343
Malabsorption	Intestinal malabsorption	0002024
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Microphthalmia	Abnormally small eyeball	0000568
Multiple renal cysts	Multiple kidney cysts	0005562
Narrow palate	Narrow roof of mouth	0000189
Nephrocalcinosis	Too much calcium deposited in kidneys	0000121
Nephrolithiasis	Kidney stones	0000787
Odontogenic neoplasm		0100612
Oligosacchariduria		0010471
Open bite	Absence of overlap of upper and lower teeth Open bite between upper and lower teeth [ more ]	0010807
Open mouth	Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ]	0000194
Patellar dislocation	Dislocated kneecap	0002999
Periodontitis		0000704
Platyspondyly	Flattened vertebrae	0000926
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Reduced number of teeth	Decreased tooth count	0009804
Respiratory insufficiency	Respiratory impairment	0002093
Skin ulcer	Open skin sore	0200042
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Taurodontia		0000679
Thin upper lip vermilion	Thin upper lip	0000219
Umbilical hernia		0001537
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Urogenital fistula		0100589
Percent of people who have these symptoms is not available through HPO
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Bicarbonaturia		0003646
Camptodactyly of finger	Permanent flexion of the finger	0100490
Dense posterior cortical cataract		0007948
Developmental cataract	Clouding of the lens of the eye at birth	0000519
Elevated amniotic fluid alpha-fetoprotein		0004639
Elevated maternal serum alpha-fetoprotein		0005984
Elevated serum acid phosphatase	Acid phosphatase elevated	0003148
Finger swelling		0025131
Glaucoma		0000501
Hyperphosphaturia	High urine phosphate levels	0003109
Hypoplasia of dental enamel	Underdeveloped teeth enamel	0006297
Joint contracture of the hand		0009473
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Pathologic fracture	Spontaneous fracture	0002756
Periventricular cysts		0007109
Reduced visual acuity	Decreased clarity of vision	0007663
Renal Fanconi syndrome		0001994
Rickets	Weak and soft bones	0002748
Subcutaneous nodule	Firm lump under the skin Growth of abnormal tissue under the skin [ more ]	0001482
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Wrist swelling		0001225
X-linked recessive inheritance		0001419

Showing of 141 |

Last updated: 7/1/2020

Diagnosis 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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Lowe oculocerebrorenal syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The Rare Kidney Stone Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with primary hyperoxaluria, cystinuria, dihydroxyadeninuria, and Dent's disease through research. The Rare Kidney Stone Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations 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: http://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).

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More 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

Genetics Home Reference (GHR) contains information on Lowe oculocerebrorenal syndrome. This website is maintained by the National Library of Medicine.
The Lowe Syndrome Association offers an information page on Lowe oculocerebrorenal syndrome. Please click on the link to access this resource.
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.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

References 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; http://www.ncbi.nlm.nih.gov/books/NBK1480.
Deborah M Alcorn, MD. Oculocerebrorenal Syndrome. Medscape Reference. December 2014; http://emedicine.medscape.com/article/1214184-overview.

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