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In order to clarify the mechanism of fecal incontinence in in Wolfram syndrome and to characterize its risk factors, the examiner will reviewed the files of patients followed in a Reference Center for Rare Diseases in Ophthalmology.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Wolfram syndrome patients with fecal incontience | wolfram syndrome patients without fecal incontinence |
| |
| Wolfram syndrome patients without fecal incontience |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Retrospective case-control analysis | Other | retrospective analysis of data |
|
| Measure | Description | Time Frame |
|---|---|---|
| Urinary disorders | number of patients with urinary disorder in each group according to the group | The date at the baseline |
| Measure | Description | Time Frame |
|---|---|---|
| sleep apnea | number of patients with sleep apnea in each group according to the group | The date the data will be analyzed at the baseline |
| frequence of swallowing disroder | number of patients with swallowing disorders in each group according to the group |
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Inclusion Criteria:
Exclusion Criteria:
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retrospectif cohort of the rare disease center
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| christophe Orssaud, MD | Contact | 33 156093466 | christophe.orssaud@aphp.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| HEGP | Paris | 75015 | France |
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| ID | Term |
|---|---|
| D014929 | Wolfram Syndrome |
| D005242 | Fecal Incontinence |
| ID | Term |
|---|---|
| D054062 | Deaf-Blind Disorders |
| D003638 | Deafness |
| D034381 | Hearing Loss |
| D006311 | Hearing Disorders |
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| The data will be analyzed at baseline |
| frequence of diabetes insipidus | number of patients with diabetes insipidus in each group according to the group | The data will be analyzed at baseline |
| mutation type | report of mutations of WFS1 in each group | The data will be analyzed at baseline |
| D004427 |
| Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D015418 | Optic Atrophies, Hereditary |
| D009896 | Optic Atrophy |
| D009901 | Optic Nerve Diseases |
| D003389 | Cranial Nerve Diseases |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D001766 | Blindness |
| D014786 | Vision Disorders |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D003919 | Diabetes Insipidus |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003922 | Diabetes Mellitus, Type 1 |
| D003920 | Diabetes Mellitus |
| D044882 | Glucose Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D004700 | Endocrine System Diseases |
| D010900 | Pituitary Diseases |
| D012002 | Rectal Diseases |
| D007410 | Intestinal Diseases |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |