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
[ more ]
|
0001875 |
Oligomenorrhea |
Light or infrequent menstrual periods
|
0000876 |
Optic atrophy | 0000648 | |
Optic neuropathy |
Damaged optic nerve
|
0001138 |
Pigmentary retinopathy | 0000580 | |
Primary amenorrhea | 0000786 | |
Drooping upper eyelid
|
0000508 | |
Sensorineural hearing impairment | 0000407 | |
Sideroblastic anemia | 0001924 | |
Stroke-like episode | 0002401 | |
Testicular atrophy |
Testicular degeneration
|
0000029 |
Low platelet count
|
0001873 | |
Tremor | 0001337 |
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.
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 mitochondrial disorders such as Maternally-inherited diabetes and deafness, Leber hereditary optic neuropathy, Mohr-Tranebjaerg syndrome, and Autosomal dominant optic atrophy plus syndrome. Other possible differential diagnoses are X-linked Carcot-Marie-Tooth disease type 5, Friedreich ataxia, Thiamine-responsive megaloblastic anemia, Bardet-Biedl and Alstrom syndromes. An autosomal dominant disorder, referred to as Wolfram-like syndrome, with DM occurring in adulthood, a juvenile onset of OA, and/or associated hearing impairment has also been described.
Visit the
Orphanet disease page
for more information.
|
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.
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.
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