PedAM
Pediatric Disease Annotations & Medicines
| Disease | cone-rod dystrophy |
| Phenotype | C0456909|blindness |
| Sentences | 2 |
| PubMedID- 22566558 | Alström syndrome (alms; omim: 203800) is a rare ciliopathy (∼50 diagnosed cases in the uk) characterised by cone-rod dystrophy leading to blindness, childhood obesity, hearing loss, hyperinsulinaemia, type 2 diabetes and dilated cardiomyopathy, together with pulmonary, renal, urological and hepatic dysfunction and chronic respiratory tract infections (reviewed in marshall et al., 2011a). |
| PubMedID- 20103962 | It is clinically characterized by: (i) childhood obesity (95%), (ii) progressive cone-rod dystrophy ultimately leading to blindness with 90% of the patients becoming blind at the age of 16 years, (iii) sensorineural deafness (80%), (iv) dilated cardiomyopathy (60%), (v) heptic dysfunction (80%), (vi) renal insufficiency (50%), and (vii) endocrinological features.8 it was first described in 1959 and 500 cases have been detected globally so far without any gender predilection.8 it is now considered to be one of the class of genetic diseases known as ciliopathies in which the ciliary function of various cell types are affected, resulting in dysfunction of cells of renal tubules, sperm cells, and retinal cells, thereby producing the components of the syndrome.9 the genetic disease is due to mutations in the alms1 genes, of which 81 mutant genes have been detected so far (table 3).8 as in bardet-biedl syndrome, and because of the wide-ranging and complex spectrum of phenotypes reported in the literature, marshall et al adopted the diagnostic criteria for alström syndrome as shown in table 2.10 in adults, two major criteria and two minor criteria, or one major and four minor criteria are required for the clinical diagnosis of the syndrome. |
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