| Prevalence | Estimated at 1 in 770,000 in the United Kingdom; 1 in 54,478 in a Sicilian district of Italy, reflecting higher consanguinity rates (Barrett et al., 1995; Lombardo et al., 2014) |
| Inheritance | Autosomal recessive for both types, though heterozygous WFS1 variants can cause dominantly inherited sensorineural hearing loss and diabetes |
| Prognosis | Median survival approximately 30 years (range 25-49 years) |
| Carrier frequency | Approximately 1 in 354 in the UK general population |
| Higher prevalence | In populations with high rates of consanguinity (Middle East, North Africa, South Asia) |
| Type distribution | WS1 (WFS1 mutations) accounts for ~90% of cases; WS2 (CISD2 mutations) is extremely rare, with cases reported in only a few families worldwide |
| Sex distribution | Affects males and females equally |
| Gene | CISD2 (chromosome 4q24) |
| Core features | Diabetes mellitus, optic atrophy, sensorineural deafness |
| Neurodegeneration | Similar progressive neurological decline |
| Urological | Neurogenic bladder, hydroureteronephrosis |
| Psychiatric | Depression, anxiety, psychosis (present in ~60% of patients) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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