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Disease Profile
Wolfram 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
Childhood
ICD-10
E34.8
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)
WFS; Diabetes insipidus and mellitus with optic atrophy and deafness; DIDMOAD;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;
Summary
Wolfram
Symptoms
Other signs and symptoms of Wolfram syndrome type 1 may include:[7][1][8]
- Urinary tract abnormalities
Ataxia (problems with coordination and balance)- Loss of sense of smell
- Loss of gag reflex
- Myoclonus (muscle spasms)
- Decreased sensation in some parts of the body (
peripheral neuropathy ) Seizures - Depression
- Impulsive and/or aggressive behavior
- Psychosis
- Gastrointestinal problems
Intellectual disability - Irregular breathing due to lack of brain's inability to control breathing (central apnea) and central respiratory failure
Hypogonadism in males (reduced amounts of the sexhormone testosterone)
In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendency to bleed excessively after injuries.[1]
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 | |||
Diabetes insipidus | 0000873 | ||
Polydipsia |
Extreme thirst
|
0001959 | |
30%-79% of people have these symptoms | |||
Abnormality of mesentery morphology | 0100016 | ||
Ataxia | 0001251 | ||
Difficulty articulating speech
|
0001260 | ||
Dysuria |
Painful or difficult urination
|
0100518 | |
Feeding difficulties in infancy | 0008872 | ||
Nephropathy | 0000112 | ||
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 | |
Seizure | 0001250 | ||
5%-29% of people have these symptoms | |||
Abnormal autonomic nervous system physiology | 0012332 | ||
Low number of red blood cells or hemoglobin
|
0001903 | ||
Disease of the heart muscle
|
0001638 | ||
Central apnea | 0002871 | ||
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 | |
Constipation | 0002019 | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | ||
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | ||
Gastric ulcer |
Stomach ulcer
|
0002592 | |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 | |
0000501 | |||
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 | |
Malabsorption |
Intestinal malabsorption
|
0002024 | |
Male hypogonadism |
Decreased function of male gonad
|
0000026 | |
Myopathy |
Muscle tissue disease
|
0003198 | |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 | |
Peripheral neuropathy | 0009830 | ||
Respiratory insufficiency |
Respiratory impairment
|
0002093 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 | |
Percent of people who have these symptoms is not available through HPO | |||
Abnormal bleeding |
Bleeding tendency
|
0001892 | |
Abnormality of the skeletal system |
Skeletal abnormalities
Skeletal anomalies
[ more ] |
0000924 | |
0000007 | |||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 | |
Blindness | 0000618 | ||
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 | |
Decreased circulating |
0004313 | ||
Depressivity |
Depression
|
0000716 | |
0000819 | |||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | ||
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 | |
Hydronephrosis | 0000126 | ||
Hydroureter | 0000072 | ||
Hypothyroidism |
Underactive thyroid
|
0000821 | |
Impaired collagen-induced |
0008320 | ||
Limited mobility of proximal interphalangeal joint |
Limited mobility of innermost hinge joint
|
0006217 | |
Megaloblastic anemia | 0001889 | ||
0001427 | |||
Neurogenic bladder |
Lack of bladder control due to nervous system injury
|
0000011 | |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
A specific mutation in the CISD2 gene causes Wolfram syndrome type 2. Although the exact function of this gene is not known, scientists suspect that it plays an important role in the Mutations in The following are the most important features that help with the diagnosis:[2] The For more detailed information please visit the GeneReviews section regarding the treatment and management of Wolfram syndrome. 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 Neurology News |