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Disease Profile
Norrie disease
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.
Unknown
Age of onset
Neonatal
ICD-10
H35.5
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)
Atrophia bulborum hereditaria; Pseudoglioma; Episkopi blindness;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Norrie disease is an
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 chorioretinal morphology | 0000532 | ||
Abnormal retinal vascular morphology |
Abnormality of retina blood vessels
|
0008046 | |
Anterior chamber synechiae | 0007833 | ||
Blindness | 0000618 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | ||
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 | |
Hypoplasia of the iris |
Underdeveloped iris
|
0007676 | |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 | |
Macrotia |
Large ears
|
0000400 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 | |
Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] |
0000446 | |
Eye tumor
|
0100012 | ||
Sclerocornea |
Hardening of skin and connective tissue
|
0000647 | |
Vascular neoplasm |
Blood vessel tumor
|
0100742 | |
30%-79% of people have these symptoms | |||
Abnormal cochlea morphology | 0000375 | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 | |
Aplasia/Hypoplasia of the lens |
Absent/small lens
Absent/underdeveloped lens
[ more ] |
0008063 | |
Erectile dysfunction |
Abnormal erection
Erectile abnormalities
[ more ] |
0100639 | |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 | ||
Irritability |
Irritable
|
0000737 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Psychosis | 0000709 | ||
Remnants of the hyaloid vascular system | 0007968 | ||
Retinal detachment |
Detached retina
|
0000541 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 | |
Venous insufficiency |
Poorly functioning veins
|
0005293 | |
5%-29% of people have these symptoms | |||
Abnormal pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ] |
0000615 | |
Abnormality of |
0010978 | ||
Abnormality of the diencephalon | 0010662 | ||
Abnormality of the helix | 0011039 | ||
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 | |
0000717 | |||
Cachexia |
Wasting syndrome
|
0004326 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 | |
Clonus | 0002169 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | ||
0000819 | |||
Ectopia lentis | 0001083 | ||
0002353 | |||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 | |
0000501 | |||
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 | |
Hypertonia | 0001276 | ||
Malar flattening |
Zygomatic flattening
|
0000272 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | ||
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 | |
Muscle weakness |
Muscular weakness
|
0001324 | |
Muscular |
Low or weak muscle tone
|
0001252 | |
Optic atrophy | 0000648 | ||
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 | |
0002650 | |||
0001250 | |||
Self-injurious behavior |
Self-injurious behaviour
|
0100716 | |
Sensorineural hearing impairment | 0000407 | ||
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
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. In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain.[3] For individuals with 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. 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. 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. Rare Nephrology News |